question,question_id,question_type,answer,focus,id,source,url,cui,semanticType,semanticGroup What is (are) Absence of the Septum Pellucidum ?,0000001-1,information,"The septum pellucidum (SP) is a thin membrane located at the midline of the brain between the two cerebral hemispheres, or halves of the brain.. It is connected to the corpus callosum -- a collection of nerve fibers that connect the cerebral hemispherers. This rare abnormality accompanies various malformations of the brain that affect intelligence, behavior, and the neurodevelopmental process, and seizures may occur. Children who are born without this membrane and also have other abnormalities--pituitary deficiencies and abnormal development of the optic disk--have a disorder known as septo-optic dysplasia. More information about this condition can be located at the NINDS Septo-Optic Dysplasia Information Page.",Absence of the Septum Pellucidum,0000001,NINDS,http://www.ninds.nih.gov/disorders/absence_septum_pellucidum/absence_septum_pellucidum.htm,C0431371,T019,Disorders What are the treatments for Absence of the Septum Pellucidum ?,0000001-2,treatment,Absence of the SP alone is not a disorder but is instead a characteristic noted in children with septo-optic dysplasia or other developmental anomalies.,Absence of the Septum Pellucidum,0000001,NINDS,http://www.ninds.nih.gov/disorders/absence_septum_pellucidum/absence_septum_pellucidum.htm,C0431371,T019,Disorders What is the outlook for Absence of the Septum Pellucidum ?,0000001-3,outlook,"When the absence of the septum pellucidum is part of septo-optic dysplasia, the prognosis varies according to the presence and severity of associated symptoms. By itself, absence of the septum pellucidum is not life-threatening.",Absence of the Septum Pellucidum,0000001,NINDS,http://www.ninds.nih.gov/disorders/absence_septum_pellucidum/absence_septum_pellucidum.htm,C0431371,T019,Disorders what research (or clinical trials) is being done for Absence of the Septum Pellucidum ?,0000001-4,research,The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system ad to use that knowledge to reduce the burden of neurological disease. The NINDS conducts and supports a wide range of studies that explore the complex mechanisms of normal brain development. The knowledge gained from these fundamental studies provides the foundation for understanding how this process can go awry and offers hope for new means to treat and prevent developmental brain disorders.,Absence of the Septum Pellucidum,0000001,NINDS,http://www.ninds.nih.gov/disorders/absence_septum_pellucidum/absence_septum_pellucidum.htm,C0431371,T019,Disorders What is (are) Acid Lipase Disease ?,0000002-1,information,"Acid lipase disease or deficiency occurs when the enzyme needed to break down certain fats that are normally digested by the body is lacking or missing, resulting in the toxic buildup of these fats in the bodys cells and tissues. These fatty substances, called lipids, include fatty acids, oils, and cholesterol. Two rare lipid storage diseases are caused by the deficiency of the enzyme lysosomal acid lipase: Wolmans disease (also known as acid lipase deficiency) is an autosomal recessive disorder marked by the buildup of cholesteryl esters (normally a tranport form of cholesterol that brings nutrients into the cells and carries out waste) and triglycerides (a chemical form in which fats exist in the body). Infants with the disorder appear normal at birth but quickly develop progressive mental deterioration, low muscle tone,enlarged liver and grossly enlarged spleen, gastrointestinal problems including an excessive amount of fats in the stools, jaundice, anemia, vomiting, and calcium deposits in the adrenal glands, which causes them to harden. Both male and female infants are affected by the disorder. Cholesteryl ester storage disease (CESD) is an extremely rare disorder that results from storage of cholesteryl esters and triglycerides in cells in the blood and lymph and lymphoid tissue. Children develop an enlarged liver, leading to cirrhosis and chronic liver failure before adulthood. Children may also develop calcium deposits in the adrenal glands and jaundice. Onset varies, and the disorder may not be diagnosed until adulthood.",Acid Lipase Disease,0000002,NINDS,http://www.ninds.nih.gov/disorders/acid_lipase/acid_lipase.htm,C2936797,T047,Disorders What are the treatments for Acid Lipase Disease ?,0000002-2,treatment,"Enzyme replacement therapy for both Wolman's and cholesteryl ester storage disease is currently under investigation. Certain drugs may be given to help with adrenal gland production, and children may need to be fed intravenously. Individuals with CESD may benefit from a low cholesterol diet.",Acid Lipase Disease,0000002,NINDS,http://www.ninds.nih.gov/disorders/acid_lipase/acid_lipase.htm,C2936797,T047,Disorders What is the outlook for Acid Lipase Disease ?,0000002-3,outlook,"Wolmans disease is usually fatal by age 1. The onset and course of cholesteryl ester storage disease varies, and individuals may live into adulthood.",Acid Lipase Disease,0000002,NINDS,http://www.ninds.nih.gov/disorders/acid_lipase/acid_lipase.htm,C2936797,T047,Disorders what research (or clinical trials) is being done for Acid Lipase Disease ?,0000002-4,research,"The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge abut the brain and nervous system, and to use that knowledge to reduce the burden of neurological diseaset. The NINDS conducts and supports research to understand lipid storage diseases such as acid lipase deficiency. Additional research studies hope to identify biomarkers (signs that may indicate risk of a disease and improve diagnosis) for thee lipid storage diseases that will speed the development of novel therapeutics for these disorders. Other investigators hope to establish an international disease registry designed to collect longitudinal data that would be used to improve the care and treatment of individuals with lysosomal acid lipase deficiency. The National Library of Medicine (NLM), a part of the National Institutes of Health (NIH) within the U.S. Department of Health and Human Services, offers free searches of biomedical literature through an Internet service called PubMed. To search, go to: http://www.ncbi.nlm.nih.gov/PubMed . The NLM also offers extensive health information from NIH and other trusted sources. To research your condition, go to: http://www.medlineplus.gov .",Acid Lipase Disease,0000002,NINDS,http://www.ninds.nih.gov/disorders/acid_lipase/acid_lipase.htm,C2936797,T047,Disorders What is (are) Pompe Disease ?,0000003-1,information,"Pompe disease is a rare (estimated at 1 in every 40,000 births), inherited and often fatal disorder that disables the heart and skeletal muscles. It is caused by mutations in a gene that makes an enzyme called acid alpha-glucosidase (GAA). Normally, the body uses GAA to break down glycogen, a stored form of sugar used for energy. The enzyme performs its function in intracellular compartments called lysosomes. Lysosomes are known to function as cellular clearinghouses; they ingest multiple substances including glycogen, which is converted by the GAA into glucose, a sugar that fuels muscles. In Pompe disease, mutations in the GAA gene reduce or completely eliminate this essential enzyme. Excessive amounts of lysosomal glycogen accumulate everywhere in the body, but the cells of the heart and skeletal muscles are the most seriously affected. Researchers have identified up to 300 different mutations in the GAA gene that cause the symptoms of Pompe disease, which can vary widely in terms of age of onset and severity. The severity of the disease and the age of onset are related to the degree of enzyme deficiency. Early onset (or the infantile form) is the result of complete or near complete deficiency of GAA. Symptoms begin in the first months of life, with feeding problems, poor weight gain, muscle weakness, floppiness, and head lag. Respiratory difficulties are often complicated by lung infections. The heart is grossly enlarged. Many infants with Pompe disease also have enlarged tongues. Most babies die from cardiac or respiratory complications before their first birthday. Late onset (or juvenile/adult) Pompe disease is the result of a partial deficiency of GAA. The onset can be as early as the first decade of childhood or as late as the sixth decade of adulthood. The primary symptom is muscle weakness progressing to respiratory weakness and death from respiratory failure after a course lasting several years. The heart is usually not involved. A diagnosis of Pompe disease can be confirmed by screening for the common genetic mutations or measuring the level of GAA enzyme activity in a blood sample. Once Pompe disease is diagnosed, testing of all family members and a consultation with a professional geneticist are recommended. Carriers are most reliably identified via genetic mutation analysis.",Pompe Disease,0000003,NINDS,http://www.ninds.nih.gov/disorders/pompe/pompe.htm,C0017921,T019,Disorders What are the treatments for Pompe Disease ?,0000003-2,treatment,"Individuals with Pompe disease are best treated by a team of specialists (such as cardiologist, neurologist, and respiratory therapist) knowledgeable about the disease, who can offer supportive and symptomatic care. The discovery of the GAA gene has led to rapid progress in understanding the biological mechanisms and properties of the GAA enzyme. As a result, an enzyme replacement therapy has been developed that has shown, in clinical trials with infantile-onset patients, to decrease heart size, maintain normal heart function, improve muscle function, tone, and strength, and reduce glycogen accumulation. A drug called alglucosidase alfa (Myozyme), has received FDA approval for the treatment of infants and children with Pompe disease. Another algluosidase alfa drug, Lumizyme, has been approved for late-onset (non-infantile) Pompe disease.",Pompe Disease,0000003,NINDS,http://www.ninds.nih.gov/disorders/pompe/pompe.htm,C0017921,T019,Disorders What is the outlook for Pompe Disease ?,0000003-3,outlook,"Without enzyme replacement therapy, the hearts of babies with infantile onset Pompe disease progressively thicken and enlarge. These babies die before the age of one year from either cardiorespiratory failure or respiratory infection. For individuals with late onset Pompe disease, the prognosis is dependent upon the age of onset. In general, the later the age of onset, the slower the progression of the disease. Ultimately, the prognosis is dependent upon the extent of respiratory muscle involvement.",Pompe Disease,0000003,NINDS,http://www.ninds.nih.gov/disorders/pompe/pompe.htm,C0017921,T019,Disorders what research (or clinical trials) is being done for Pompe Disease ?,0000003-4,research,"The National Institute of Neurological Disorders and Stroke (NINDS) supports Pompe research through grants to major research institutions across the country. Research related to Pompe disease is conducted in one of the laboratories of the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) at the National Institutes of Health. Much of Pompe-related research focuses on finding better ways to prevent, treat, and ultimately cure this disorder.",Pompe Disease,0000003,NINDS,http://www.ninds.nih.gov/disorders/pompe/pompe.htm,C0017921,T019,Disorders What is (are) Landau-Kleffner Syndrome ?,0000004-1,information,"Landau-Kleffner syndrome (LKS) is a rare, childhood neurological disorder characterized by the sudden or gradual development of aphasia (the inability to understand or express language) and an abnormal electro-encephalogram (EEG). LKS affects the parts of the brain that control comprehension and speech. The disorder usually occurs in children between the ages of 5 and 7 years. Typically, children with LKS develop normally but then lose their language skills for no apparent reason. While many of the affected individuals have seizures, some do not. The disorder is difficult to diagnose and may be misdiagnosed as autism, pervasive developmental disorder, hearing impairment, learning disability, auditory/verbal processing disorder, attention deficit disorder, childhood schizophrenia, or emotional/behavioral problems.",Landau-Kleffner Syndrome,0000004,NINDS,http://www.ninds.nih.gov/disorders/landaukleffnersyndrome/landaukleffnersyndrome.htm,C0282512,T048,Disorders What are the treatments for Landau-Kleffner Syndrome ?,0000004-2,treatment,"Treatment for LKS usually consists of medications, such as anticonvulsants and corticosteroids, and speech therapy, which should be started early. A controversial treatment option involves a surgical technique called multiple subpial transection in which the pathways of abnormal electrical brain activity are severed",Landau-Kleffner Syndrome,0000004,NINDS,http://www.ninds.nih.gov/disorders/landaukleffnersyndrome/landaukleffnersyndrome.htm,C0282512,T048,Disorders What is the outlook for Landau-Kleffner Syndrome ?,0000004-3,outlook,"The prognosis for children with LKS varies. Some affected children may have a permanent severe language disorder, while others may regain much of their language abilities (although it may take months or years). In some cases, remission and relapse may occur. The prognosis is improved when the onset of the disorder is after age 6 and when speech therapy is started early. Seizures generally disappear by adulthood.",Landau-Kleffner Syndrome,0000004,NINDS,http://www.ninds.nih.gov/disorders/landaukleffnersyndrome/landaukleffnersyndrome.htm,C0282512,T048,Disorders what research (or clinical trials) is being done for Landau-Kleffner Syndrome ?,0000004-4,research,"The NINDS supports broad and varied programs of research on epilepsy and developmental disorders. This research is aimed at discovering new ways to prevent, diagnose, and treat epilepsy and developmental disorders and, ultimately, to find cures for them.",Landau-Kleffner Syndrome,0000004,NINDS,http://www.ninds.nih.gov/disorders/landaukleffnersyndrome/landaukleffnersyndrome.htm,C0282512,T048,Disorders What is (are) Acute Disseminated Encephalomyelitis ?,0000005-1,information,"Acute disseminated encephalomyelitis (ADEM) is characterized by a brief but widespread attack of inflammation in the brain and spinal cord that damages myelin the protective covering of nerve fibers. ADEM often follows viral or bacterial infections, or less often, vaccination for measles, mumps, or rubella. The symptoms of ADEM appear rapidly, beginning with encephalitis-like symptoms such as fever, fatigue, headache, nausea and vomiting, and in the most severe cases, seizures and coma. ADEM typically damages white matter (brain tissue that takes its name from the white color of myelin), leading to neurological symptoms such as visual loss (due to inflammation of the optic nerve)in one or both eyes, weakness even to the point of paralysis, and difficulty coordinating voluntary muscle movements (such as those used in walking). ADEM is sometimes misdiagnosed as a severe first attack of multiple sclerosis (MS), since the symptoms and the appearance of the white matter injury on brain imaging may be similar. However, ADEM has several features which differentiate it from MS. First, unlike MS patients, persons with ADEM will have rapid onset of fever, a history of recent infection or immunization, and some degree of impairment of consciousness, perhaps even coma; these features are not typically seen in MS. Children are more likely than adults to have ADEM, whereas MS is a rare diagnosis in children. In addition, ADEM usually consists of a single episode or attack of widespread myelin damage, while MS features many attacks over the course of time. Doctors will often use imaging techniques, such as MRI (magnetic resonance imaging), to search for old and new lesions (areas of damage) on the brain. The presence of older brain lesions on MRI suggest that the condition may be MS rather than ADEM, since MS can cause brain lesions before symptoms become obvious. In rare situations, a brain biopsy may be necessary to differentiate between ADEM and some other diseases that involve inflammation and damage to myelin..",Acute Disseminated Encephalomyelitis,0000005,NINDS,http://www.ninds.nih.gov/disorders/acute_encephalomyelitis/acute_encephalomyelitis.htm,C0014059,T047,Disorders What are the treatments for Acute Disseminated Encephalomyelitis ?,0000005-2,treatment,"Treatment for ADEM is targeted at suppressing inflammation in the brain using anti-inflammatory drugs. Most individuals respond to several days of intravenous corticosteroids such as methylprednisolone, followed by oral corticosteroid treatment. When corticosteroids fail to work, plasmapheresis or intravenous immunoglobulin therapy are possible secondary treatment options that are reported to help in some severe cases. Additional treatment is symptomatic and supportive.",Acute Disseminated Encephalomyelitis,0000005,NINDS,http://www.ninds.nih.gov/disorders/acute_encephalomyelitis/acute_encephalomyelitis.htm,C0014059,T047,Disorders What is the outlook for Acute Disseminated Encephalomyelitis ?,0000005-3,outlook,"Corticosteroid therapy typically helps hasten recovery from most ADEM symptoms. The long-term prognosis for individuals with ADEM is generally favorable. For most individuals, recovery begins within days, and within six months the majority of ADEM patients will have total or near total recoveries. Others may have mild to moderate lifelong impairment ranging from cognitive difficulties, weakness, loss of vision, or numbness. Severe cases of ADEM can be fatal but this is a very rare occurrence. ADEM can recur, usually within months of the initial diagnosis, and is treated by restarting corticosteroids. A small fraction of individuals who are initially diagnosed as having ADEM can go on to develop MS, but there is currently no method or known risk factors to predict whom those individuals will be.",Acute Disseminated Encephalomyelitis,0000005,NINDS,http://www.ninds.nih.gov/disorders/acute_encephalomyelitis/acute_encephalomyelitis.htm,C0014059,T047,Disorders what research (or clinical trials) is being done for Acute Disseminated Encephalomyelitis ?,0000005-4,research,"The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research related to ADEM in laboratories at the NIH, and also support additional research through grants to major medical institutions across the country. Much of this research focuses on finding better ways to prevent, treat, and ultimately cure demyelinating disorders such as ADEM.",Acute Disseminated Encephalomyelitis,0000005,NINDS,http://www.ninds.nih.gov/disorders/acute_encephalomyelitis/acute_encephalomyelitis.htm,C0014059,T047,Disorders What is (are) Attention Deficit-Hyperactivity Disorder ?,0000006-1,information,"Attention deficit-hyperactivity disorder (ADHD) is a neurobehavioral disorder that affects 3-5 percent of all American children. It interferes with a person's ability to stay on a task and to exercise age-appropriate inhibition (cognitive alone or both cognitive and behavioral). Some of the warning signs of ADHD include failure to listen to instructions, inability to organize oneself and school work, fidgeting with hands and feet, talking too much, leaving projects, chores and homework unfinished, and having trouble paying attention to and responding to details. There are several types of ADHD: a predominantly inattentive subtype, a predominantly hyperactive-impulsive subtype, and a combined subtype. ADHD is usually diagnosed in childhood, although the condition can continue into the adult years.",Attention Deficit-Hyperactivity Disorder,0000006,NINDS,http://www.ninds.nih.gov/disorders/adhd/adhd.htm,C1263846,T048,Disorders What are the treatments for Attention Deficit-Hyperactivity Disorder ?,0000006-2,treatment,"The usual course of treatment may include medications such as methylphenidate (Ritalin) or dextroamphetamine (Dexedrine), which are stimulants that decrease impulsivity and hyperactivity and increase attention. Most experts agree that treatment for ADHD should address multiple aspects of the individual's functioning and should not be limited to the use of medications alone. Treatment should include structured classroom management, parent education (to address discipline and limit-setting), and tutoring and/or behavioral therapy for the child.",Attention Deficit-Hyperactivity Disorder,0000006,NINDS,http://www.ninds.nih.gov/disorders/adhd/adhd.htm,C1263846,T048,Disorders What is the outlook for Attention Deficit-Hyperactivity Disorder ?,0000006-3,outlook,"There is no ""cure"" for ADHD. Children with the disorder seldom outgrow it; however, some may find adaptive ways to accommodate the ADHD as they mature.",Attention Deficit-Hyperactivity Disorder,0000006,NINDS,http://www.ninds.nih.gov/disorders/adhd/adhd.htm,C1263846,T048,Disorders what research (or clinical trials) is being done for Attention Deficit-Hyperactivity Disorder ?,0000006-4,research,"Several components of the NIH support research on developmental disorders such as ADHD. Research programs of the NINDS, the National Institute of Mental Health (NIMH), and the National Institute of Child Health and Human Development (NICHD) seek to address unanswered questions about the causes of ADHD, as well as to improve diagnosis and treatment.",Attention Deficit-Hyperactivity Disorder,0000006,NINDS,http://www.ninds.nih.gov/disorders/adhd/adhd.htm,C1263846,T048,Disorders What is (are) Adrenoleukodystrophy ?,0000008-1,information,"X-linked Adrenoleukodystrophy (ALD) is one of a group of genetic disorders called the leukodystrophies that cause damage to the myelin sheath, an insulating membrane that surrounds nerve cells in the brain. Women have two X chromosomes and are the carriers of the disease, but since men only have one X chromosome and lack the protective effect of the extra X chromosome, they are more severely affected. People with X-ALD accumulate high levels of saturated, very long chain fatty acids (VLCFA) in the brain and adrenal cortex. The loss of myelin and the progressive dysfunction of the adrenal gland are the primary characteristics of X-ALD. While nearly all patients with X-ALD suffer from adrenal insufficiency, also known as Addison's disease, the neurological symptoms can begin either in childhood or in adulthood. The childhood cerebral form is the most severe, with onset between ages 4 and 10. The most common symptoms are usually behavioral changes such as abnormal withdrawal or aggression, poor memory, and poor school performance. Other symptoms include visual loss, learning disabilities, seizures, poorly articulated speech, difficulty swallowing, deafness, disturbances of gait and coordination, fatigue, intermittent vomiting, increased skin pigmentation, and progressive dementia. The milder adult-onset form is also known as adrenomyeloneuropathy (AMN), which typically begins between ages 21 and 35. Symptoms may include progressive stiffness, weakness or paralysis of the lower limbs, and ataxia. Although adult-onset ALD progresses more slowly than the classic childhood form, it can also result in deterioration of brain function. Almost half the women who are carriers of X-ALS will develop a milder form of AMN but almost never will develop symptoms seen in boys the X-ALD. X-ALD should not be confused with neonatal adrenoleukodsystrophy, which is a disease of newborns and young infants and belongs to the group of peroxisomal biogenesis disorders.",Adrenoleukodystrophy,0000008,NINDS,http://www.ninds.nih.gov/disorders/adrenoleukodystrophy/adrenoleukodystrophy.htm,C0162309,T047,Disorders What are the treatments for Adrenoleukodystrophy ?,0000008-2,treatment,"Adrenal function must be tested periodically in all patients with ALD. Treatment with adrenal hormones can be lifesaving. Symptomatic and supportive treatments for ALD include physical therapy, psychological support, and special education. Recent evidence suggests that a mixture of oleic acid and erucic acid, known as ""Lorenzo's Oil,"" administered to boys with X-ALD prior to symptom onset can prevent or delay the appearance of the childhood cerebral form It is not known whether Lorenzo's Oil will have any beneficial effects in AMN. Furthermore, Lorenzo's Oil has no beneficial effect in symptomatic boys with X-ALD. Bone marrow transplantations can provide long-term benefit to boys who have early evidence of the childhood cerebral form of X-ALD, but the procedure carries risk of mortality and morbidity and is not recommended for those whose symptoms are already severe or who have the adult-onset or neonatal forms.",Adrenoleukodystrophy,0000008,NINDS,http://www.ninds.nih.gov/disorders/adrenoleukodystrophy/adrenoleukodystrophy.htm,C0162309,T047,Disorders What is the outlook for Adrenoleukodystrophy ?,0000008-3,outlook,Prognosis for patients with childhood cerebral X-ALD is generally poor due to progressive neurological deterioration unless bone marrow transplantation is performed early. Death usually occurs within 1 to 10 years after the onset of symptoms. Adult-onset AMN will progress over decades.,Adrenoleukodystrophy,0000008,NINDS,http://www.ninds.nih.gov/disorders/adrenoleukodystrophy/adrenoleukodystrophy.htm,C0162309,T047,Disorders what research (or clinical trials) is being done for Adrenoleukodystrophy ?,0000008-4,research,"The NINDS supports research on genetic disorders such as ALD. The aim of this research is to find ways to prevent, treat, and cure these disorders. Studies are currently underway to identify new biomarkers of disease progression and to determine which patients will develop the childhood cerebral form of X-ALD. A recent case study in Europe demonstrated that the combination of gene therapy with bone marrow transplantation, using the patient's own bone marrow cells, may arrest disease progression in childhood cerebral X-ALD. A therapeutic trail in the United States is currently being discussed with the U.S. Food and Drug Administration.",Adrenoleukodystrophy,0000008,NINDS,http://www.ninds.nih.gov/disorders/adrenoleukodystrophy/adrenoleukodystrophy.htm,C0162309,T047,Disorders What is (are) Agenesis of the Corpus Callosum ?,0000009-1,information,"Agenesis of the corpus callosum (ACC) is one of several disorders of the corpus callosum, the structure that connects the two hemispheres (left and right) of the brain. In ACC the corpus callosum is partially or completely absent. It is caused by a disruption of brain cell migration during fetal development. ACC can occur as an isolated condition or in combination with other cerebral abnormalities, including Arnold-Chiari malformation, Dandy-Walker syndrome, schizencephaly (clefts or deep divisions in brain tissue), and holoprosencephaly (failure of the forebrain to divide into lobes.) Girls may have a gender-specific condition called Aicardi syndrome, which causes severe cognitive impairment and developmental delays, seizures, abnormalities in the vertebra of the spine, and lesions on the retina of the eye. ACC can also be associated with malformations in other parts of the body, such as midline facial defects. The effects of the disorder range from subtle or mild to severe, depending on associated brain abnormalities. Children with the most severe brain malformations may have intellectual impairment, seizures, hydrocephalus, and spasticity. Other disorders of the corpus callosum include dysgenesis, in which the corpus callosum is developed in a malformed or incomplete way, and hypoplasia, in which the corpus callosum is thinner than usual. Individuals with these disorders have a higher risk of hearing deficits and cardiac abnormalities than individuals with the normal structure. It is estimated that at lease one in 4,000 individuals has a disorder of the corpus callosum.",Agenesis of the Corpus Callosum,0000009,NINDS,http://www.ninds.nih.gov/disorders/agenesis/agenesis.htm,C0175754,T019,Disorders What are the treatments for Agenesis of the Corpus Callosum ?,0000009-2,treatment,"There is no standard course of treatment for ACC. Treatment usually involves management of symptoms and seizures if they occur. Associated difficulties are much more manageable with early recognition and therapy, especially therapies focusing on left/right coordination. Early diagnosis and interventions are currently the best treatments to improve social and developmental outcomes.",Agenesis of the Corpus Callosum,0000009,NINDS,http://www.ninds.nih.gov/disorders/agenesis/agenesis.htm,C0175754,T019,Disorders What is the outlook for Agenesis of the Corpus Callosum ?,0000009-3,outlook,"Prognosis depends on the extent and severity of malformations. Intellectual impairment does not worsen. Individuals with a disorder of the corpus callosum typically have delays in attaining developmental milestones such as walking, talking, or reading; challenges with social interactions; clumsiness and poor motor coordination, particularly on skills that require coordination of left and right hands and feet (such as swimming, bicycle riding, and driving; and mental and social processing problems that become more apparent with age, with problems particularly evident from junior high school into adulthood.",Agenesis of the Corpus Callosum,0000009,NINDS,http://www.ninds.nih.gov/disorders/agenesis/agenesis.htm,C0175754,T019,Disorders what research (or clinical trials) is being done for Agenesis of the Corpus Callosum ?,0000009-4,research,"The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. The NINDS conducts and supports a wide range of studies that explore the complex mechanisms of normal brain development. NINDS-funded research includes studies to understand the genetic causes of ACC, as well as to understand how magnetic resonance imaging findings may help predict outcome and response to therapy.",Agenesis of the Corpus Callosum,0000009,NINDS,http://www.ninds.nih.gov/disorders/agenesis/agenesis.htm,C0175754,T019,Disorders What is (are) Agnosia ?,0000010-1,information,"Agnosia is a rare disorder characterized by an inability to recognize and identify objects or persons. People with agnosia may have difficulty recognizing the geometric features of an object or face or may be able to perceive the geometric features but not know what the object is used for or whether a face is familiar or not. Agnosia can be limited to one sensory modality such as vision or hearing. For example, a person may have difficulty in recognizing an object as a cup or identifying a sound as a cough. Agnosia can result from strokes, dementia, developmental disorders, or other neurological conditions. It typically results from damage to specific brain areas in the occipital or parietal lobes of the brain. People with agnosia may retain their cognitive abilities in other areas.",Agnosia,0000010,NINDS,http://www.ninds.nih.gov/disorders/agnosia/agnosia.htm,C0001816,T048,Disorders What are the treatments for Agnosia ?,0000010-2,treatment,Treatment is generally symptomatic and supportive. The primary cause of the disorder should be determined in order to treat other problems that may contribute to or result in agnosia.,Agnosia,0000010,NINDS,http://www.ninds.nih.gov/disorders/agnosia/agnosia.htm,C0001816,T048,Disorders What is the outlook for Agnosia ?,0000010-3,outlook,Agnosia can compromise quality of life.,Agnosia,0000010,NINDS,http://www.ninds.nih.gov/disorders/agnosia/agnosia.htm,C0001816,T048,Disorders what research (or clinical trials) is being done for Agnosia ?,0000010-4,research,The NINDS supports research on disorders of the brain such as agnosia with the goal of finding ways to prevent or cure them.,Agnosia,0000010,NINDS,http://www.ninds.nih.gov/disorders/agnosia/agnosia.htm,C0001816,T048,Disorders What is (are) Aicardi Syndrome ?,0000011-1,information,"Aicardi syndrome is a rare genetic disorder that primarily affects newborn girls. The condition is sporadic, meaning it is not known to pass from parent to child. (An exception is a report of two sisters and a pair of identical twins, all of whom were affected.) The mutation that causes Aicardi syndrome has not been identified, but it is thought to be caused by a dominant mutation that appears for the first time in a family in an x-linked gene that may be lethal in certain males.. Aicardi syndrome can be seen in boys born with an extra ""X"" chromosome. (Females have two X chromosomes, while males normally have an X and a Y chromosome.) The precise gene or genetic mechanism causing Aicardi syndrome is not yet known. Originally, Aicardi syndrome was characterized by three main features: 1) partial or complete absence of the structure (corpus callosum) that links the two halves of the brain (2) infantile spasms (a type of seizure disorder), and 3) chorioretinal lacunae, lesions on the retina that look like yellowish spots. However, Aicardi syndrome is now known to have a much broader spectrum of abnormalities than was initially described. Not all girls with the condition have the three features described above and many girls have additional feature such as lower tone around the head and trunk, microcephaly (small head circumference), and spasticity in the limbs. Typical findings in the brain of girls with Aicardi syndrome include heterotopias, which are groups of brain cells that, during development, migrated to the wrong area of brain; polymicrogyria or pachygyria, which are numerous small, or too few, brain folds; and cysts, (fluid filled cavities) in the brain. Girls with Aicardi syndrome have varying degrees of intellectual disability and developmental delay. Many girls also have developmental abnormalities of their optic nerves and some have microphthalmia (small eyes). Skeletal problems such as absent or abnormal ribs and abnormalities of vertebrae in the spinal column (including hemivertebrae and butterfly vertebrae) have also been reported. Some girls also have skin problems, facial asymmetry, small hands, and an increased incidence of tumors. (Aicardi syndrome is distinct from Aicardi-Goutieres syndrome, which is an inherited encephalopathy that affects newborn infants.)",Aicardi Syndrome,0000011,NINDS,http://www.ninds.nih.gov/disorders/aicardi/aicardi.htm,C0175713,T047,Disorders What are the treatments for Aicardi Syndrome ?,0000011-2,treatment,There is no cure for Aicardi syndrome nor is there a standard course of treatment. Treatment generally involves medical management of seizures and programs to help parents and children cope with developmental delays. Long-term management by a pediatric neurologist with expertise in the management of infantile spasms is recommended.,Aicardi Syndrome,0000011,NINDS,http://www.ninds.nih.gov/disorders/aicardi/aicardi.htm,C0175713,T047,Disorders What is the outlook for Aicardi Syndrome ?,0000011-3,outlook,"The prognosis for girls with Aicardi syndrome varies according to the severity of their symptoms. There is an increased risk for death in childhood and adolescence, but survivors into adulthood have been described.",Aicardi Syndrome,0000011,NINDS,http://www.ninds.nih.gov/disorders/aicardi/aicardi.htm,C0175713,T047,Disorders what research (or clinical trials) is being done for Aicardi Syndrome ?,0000011-4,research,"The NINDS supports and conducts research on neurogenetic disorders such as Aicardi syndrome. The goals of this research are to locate and understand the genes involved and to develop techniques to diagnose, treat, prevent, and ultimately cure disorders such as Aicardi syndrome.",Aicardi Syndrome,0000011,NINDS,http://www.ninds.nih.gov/disorders/aicardi/aicardi.htm,C0175713,T047,Disorders What is (are) Aicardi-Goutieres Syndrome Disorder ?,0000012-1,information,"Aicardi-Goutieres syndrome (AGS) is an inherited encephalopathy that affects newborn infants and usually results in severe mental and physical handicap. There are two forms of the syndrome: an early-onset form that is severe, and a late-onset form that has less impact upon neurological function. The early-onset form affects about 20 percent of all babies who have AGS. These infants are born with neurological and liver abnormalities, such as enlargement of the liver and spleen and elevated liver enzymes. Their jittery behavior and poor feeding ability mimic congenital viral infection. Babies with later-onset AGS begin having symptoms after the first weeks or months of normal development, which appear as a progressive decline in head growth, weak or stiffened muscles (spasticity), and cognitive and developmental delays that range from moderate to severe. Symptoms last for several months, and include irritability, inconsolable crying, intermittent fever, seizures, and loss of developmental skills. Children may also have puffy swelling on the fingers, toes, and ears that resemble chilblains. A number of children have a noticeable startle reaction to sudden noise. For babies with the later-onset form, as symptoms lessen, there is no further worsening of the disease. AGS is difficult to diagnose since many of the symptoms are similar to those of other disorders. Diagnosis is made based on the clinical symptoms of the disease, as well as characteristic brain abnormalities that can be seen in an MRI brain scan. Cerebrospinal fluid (CSF), taken using a ""spinal tap,"" can also be tested for increased levels of a specific immune system cell (a lymphocyte), which indicates a condition known as chronic lymphocytosis. These cells are normally only elevated during infection, so that lymphocytosis without evidence of infection can be used as an indicator of AGS. CSF may also be tested for elevated levels of a substance known as interferon-gamma, which can also support a diagnosis of AGS. The mutations of four different genes are associated with AGS: - Aicardi-Goutieres syndrome-1 (AGS1) and AGS5 (an autosomal dominant form) are caused by a mutation in the TREX1 gene, - AGS2 is caused by a mutation in the RNASEH2B gene, - AGS3 is caused by a mutation in the RNASEH2C gene, - AGS4 is caused by a mutation in the RNASEH2A gene. Most cases of AGS are inherited in an autosomal recessive manner, which means that both parents of a child with AGS must carry a single copy of the defective gene responsible for the disease. Parents do not have any symptoms of disease, but with every child they have together, there is a one in four chance that the baby will receive two copies of the defective gene and inherit AGS. NOTE: AGS is distinct from the similarly named Aicardi syndrome (characterized by absence of a brain structure (corpus callosum), and spinal, skeletal, and eye abnormalities).",Aicardi-Goutieres Syndrome Disorder,0000012,NINDS,http://www.ninds.nih.gov/disorders/aicardi_goutieres/aicardi-goutieres.htm,C0039082,T047,Disorders What are the treatments for Aicardi-Goutieres Syndrome Disorder ?,0000012-2,treatment,"Depending upon the severity of symptoms, children may require chest physiotherapy and treatment for respiratory complications. To ensure adequate nutrition and caloric intake, some infants may require special accommodations for diet and feeding. Seizures may be managed with standard anticonvulsant medications. Children should be monitored for evidence of glaucoma in the first few months of life, and later for evidence of scoliosis, diabetes, and underactive thyroid.The prognosis depends upon the severity of symptoms.",Aicardi-Goutieres Syndrome Disorder,0000012,NINDS,http://www.ninds.nih.gov/disorders/aicardi_goutieres/aicardi-goutieres.htm,C0039082,T047,Disorders What is the outlook for Aicardi-Goutieres Syndrome Disorder ?,0000012-3,outlook,"The prognosis depends upon the severity of symptoms. Children with early-onset AGS have the highest risk of death. Children with the later-onset form may be left with weakness or stiffness in the peripheral muscles and arms, weak muscles in the trunk of the body, and poor head control. Almost all children with AGS have mild to severe intellectual and physical impairment.",Aicardi-Goutieres Syndrome Disorder,0000012,NINDS,http://www.ninds.nih.gov/disorders/aicardi_goutieres/aicardi-goutieres.htm,C0039082,T047,Disorders what research (or clinical trials) is being done for Aicardi-Goutieres Syndrome Disorder ?,0000012-4,research,The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) support research related to AGS through grants to major medical institutions across the country. Current research is aimed at finding new methods for treating and ultimately preventing or curing AGS.,Aicardi-Goutieres Syndrome Disorder,0000012,NINDS,http://www.ninds.nih.gov/disorders/aicardi_goutieres/aicardi-goutieres.htm,C0039082,T047,Disorders What are the complications of Neurological Complications of AIDS ?,0000013-1,complications,"AIDS is primarily an immune system disorder caused by the human immunodeficiency virus (HIV), but it can also affect the nervous system. HIV does not appear to directly invade nerve cells but it jeopardizes their health and function, causing symptoms such as confusion, forgetfulness, behavioral changes, headaches, progressive weakness and loss of sensation in the arms and legs, cognitive motor impairment, or damage to the peripheral nerves. Other complications that can occur as a result of HIV infection or the drugs used to treat it include pain, seizures, shingles, spinal cord problems, lack of coordination, difficult or painful swallowing, anxiety disorder, depression, fever, vision loss, gait disorders, destruction of brain tissue, and coma. Other AIDS-related nervous system disorders may be caused by certain cancers or by illnesses that would not otherwise affect people with healthy immune systems. Among the most common neurological complications are: AIDS dementia complex, causing symptoms such as encephalitis (inflammation of the brain), behavioral changes, and a gradual decline in cognitive function; central nervous system lymphomas, cancerous tumors that either begin in the brain or result from a cancer that has spread from another site in the body; cryptococcal meningitis; cytomegalovirus infections; herpes virus infections; neuropathy; neurosyphilis; progressive multifocal leukoencephalopathy (PML); and psychological and neuropsychiatric disorders.",Neurological Complications of AIDS,0000013,NINDS,http://www.ninds.nih.gov/disorders/aids/aids.htm,C1171258,T046,Disorders What are the treatments for Neurological Complications of AIDS ?,0000013-2,treatment,"No single treatment can cure the neurological complications of AIDS. Some disorders require aggressive therapy while others are treated symptomatically. Medicines range from analgesics sold over the counter to antiepileptic drugs, opiates, corticosteroids, and some classes of antidepressants. Other treatments include radiation therapy or chemotherapy to kill or shrink cancerous brain tumors that may be caused by HIV, antifungal or antimalarial drugs to combat certain bacterial infections, and penicillin to treat neurosyphilis. Aggressive antiretroviral therapy is used to treat AIDS dementia complex, PML, and cytomegalovirus encephalitis. HAART, or highly active antiretroviral therapy, combines at least three drugs to reduce the amount of virus circulating in the blood and may also delay the start of some infections.",Neurological Complications of AIDS,0000013,NINDS,http://www.ninds.nih.gov/disorders/aids/aids.htm,C1171258,T046,Disorders What is the outlook for Neurological Complications of AIDS ?,0000013-3,outlook,The overall prognosis for individuals with AIDS in recent years has improved significantly because of new drugs and treatments. AIDS clinicians often fail to recognize neurological complications of AIDS. Those who suspect they are having neurological complications should be sure to discuss these with their doctor.,Neurological Complications of AIDS,0000013,NINDS,http://www.ninds.nih.gov/disorders/aids/aids.htm,C1171258,T046,Disorders what research (or clinical trials) is being done for Neurological Complications of AIDS ?,0000013-4,research,"Within the Federal government, the National Institute of Neurological Disorders and Stroke (NINDS), one part of the National Institutes of Health (NIH), supports research on the neurological consequences of AIDS. The NINDS works closely with its sister agency, the National Institute of Allergy and Infectious Diseases (NIAID), which has primary responsibility for research related to HIV and AIDS.",Neurological Complications of AIDS,0000013,NINDS,http://www.ninds.nih.gov/disorders/aids/aids.htm,C1171258,T046,Disorders What is (are) Alexander Disease ?,0000014-1,information,"Alexander disease is one of a group of neurological conditions known as the leukodystrophies, disorders that are the result of abnormalities in myelin, the white matter that protects nerve fibers in the brain. Alexander disease is a progressive and often fatal disease. The destruction of white matter is accompanied by the formation of Rosenthal fibers, which are abnormal clumps of protein that accumulate in non-neuronal cells of the brain called astrocytes. Rosenthal fibers are sometimes found in other disorders, but not in the same amount or area of the brain that are featured in Alexander disease. The infantile form is the most common type of Alexander disease. It has an onset during the first two years of life. Usually there are both mental and physical developmental delays, followed by the loss of developmental milestones, an abnormal increase in head size, and seizures. The juvenile form of Alexander disease is less common and has an onset between the ages of two and thirteen. These children may have excessive vomiting, difficulty swallowing and speaking, poor coordination, and loss of motor control. Adult-onset forms of Alexander disease are less common. The symptoms sometimes mimic those of Parkinsons disease or multiple sclerosis, or may present primarily as a psychiatric disorder. The disease occurs in both males and females, and there are no ethnic, racial, geographic, or cultural/economic differences in its distribution.",Alexander Disease,0000014,NINDS,http://www.ninds.nih.gov/disorders/alexander_disease/alexander_disease.htm,C0270726,T047,Disorders What are the treatments for Alexander Disease ?,0000014-2,treatment,"There is no cure for Alexander disease, nor is there a standard course of treatment. Treatment of Alexander disease is symptomatic and supportive.",Alexander Disease,0000014,NINDS,http://www.ninds.nih.gov/disorders/alexander_disease/alexander_disease.htm,C0270726,T047,Disorders What is the outlook for Alexander Disease ?,0000014-3,outlook,"The prognosis for individuals with Alexander disease is generally poor. Most children with the infantile form do not survive past the age of 6. Juvenile and adult onset forms of the disorder have a slower, more lengthy course.",Alexander Disease,0000014,NINDS,http://www.ninds.nih.gov/disorders/alexander_disease/alexander_disease.htm,C0270726,T047,Disorders what research (or clinical trials) is being done for Alexander Disease ?,0000014-4,research,"Recent discoveries show that most individuals (approximately 90 percent) with Alexander disease have a mutation in the gene that makes glial fibrillary acidic protein (GFAP). GFAP is a normal component of the brain, but it is unclear how the mutations in this genecauses the disease. In most cases mutations occur spontaneously are not inherited from parents.A small number of people thought to have Alexander disease do not have identifiable mutations in GFAP, which leads researchers to believe that there may be other genetic or perhaps even non-genetic causes of Alexander disease. Current research is aimed at understanding the mechanisms by which the mutations cause disease, developing better animal models for the disorder, and exploring potential strategies for treatment. At present, there is no exact animal model for the disease; however, mice have been engineered to produce the same mutant forms of GFAP found in individuals with Alexander disease. These mice form Rosenthal fibers and have a predisposition for seizures, but do not yet mimic all features of human disease (such as the leukodystrophies). One clinical study is underway to identify biomarkers of disease severity or progression in samples of blood or cerebrospinal fluid. Such biomarkers, if found, would be a major advantage for evaluating the response to any treatments that are developed in the future.",Alexander Disease,0000014,NINDS,http://www.ninds.nih.gov/disorders/alexander_disease/alexander_disease.htm,C0270726,T047,Disorders What is (are) Alpers' Disease ?,0000015-1,information,"Alpers' disease is a progressive, neurodevelopmental, mitochondrial DNA depletion syndrome characterized by three co-occurring clinical symptoms: psychomotor regression (dementia); seizures; and liver disease. It is an autosomal recessive disease caused by mutation in the gene for the mitochondrial DNA polymerase POLG. The disease occurs in about one in 100,000 persons. Most individuals with Alpers' disease do not show symptoms at birth and develop normally for weeks to years before the onset of symptoms. Diagnosis is established by testing for the POLG gene. Symptoms typically occur months before tissue samples show the mitochondrial DNA depletion, so that these depletion studies cannot be used for early diagnosis. About 80 percent of individuals with Alpers' disease develop symptoms in the first two years of life, and 20 percent develop symptoms between ages 2 and 25. The first symptoms of the disorder are usually nonspecific and may include hypoglycemia secondary to underlying liver disease, failure to thrive, infection-associated encephalopathy, spasticity, myoclonus (involuntary jerking of a muscle or group of muscles), seizures, or liver failure. An increased protein level is seen in cerebrospinal fluid analysis. Cortical blindness (loss of vision due to damage to the area of the cortex that controls vision) develops in about 25 percent of cases. Gastrointestinal dysfunction and cardiomyopathy may occur. Dementia is typically episodic and often associated with an infection that occurs while another disease is in process. Seizures may be difficult to control and unrelenting seizures can cause developmental regression as well. ""Alpers-like"" disorders without liver disease are genetically different and have a different clinical course. Fewer than one-third of individuals with the ""Alpers-like"" phenotype without liver disease have POLG mutations.",Alpers' Disease,0000015,NINDS,http://www.ninds.nih.gov/disorders/alpersdisease/alpersdisease.htm,C0205710,T047,Disorders What are the treatments for Alpers' Disease ?,0000015-2,treatment,"There is no cure for Alpers' disease and no way to slow its progression. Treatment is symptomatic and supportive. Anticonvulsants may be used to treat the seizures, but at times the seizures do not respond well to therapy, even at high doses. Therefore, the benefit of seizure control should be weights against what could be excessive sedation from the anticonvulsant.. Valproate should not be used since it can increase the risk of liver failure. Physical therapy may help to relieve spasticity and maintain or increase muscle tone.",Alpers' Disease,0000015,NINDS,http://www.ninds.nih.gov/disorders/alpersdisease/alpersdisease.htm,C0205710,T047,Disorders What is the outlook for Alpers' Disease ?,0000015-3,outlook,"The prognosis for individuals with Alpers' disease is poor. Those with the disease usually die within their first decade of life. Continuous, unrelenting seizures often lead to death. Liver failure and cardiorespiratory failure due to brain, spinal cord, and nerve involvement may also occur.",Alpers' Disease,0000015,NINDS,http://www.ninds.nih.gov/disorders/alpersdisease/alpersdisease.htm,C0205710,T047,Disorders what research (or clinical trials) is being done for Alpers' Disease ?,0000015-4,research,"The NINDS supports research on gene-linked neurodegenerative disorders such as Alpers' disease. The goals of this research are to increase scientific understanding of these disorders, and to find ways to prevent, treat, and cure them.",Alpers' Disease,0000015,NINDS,http://www.ninds.nih.gov/disorders/alpersdisease/alpersdisease.htm,C0205710,T047,Disorders What is (are) Alternating Hemiplegia ?,0000016-1,information,"Alternating hemiplegia is a rare neurological disorder that develops in childhood, most often before the child is 18 months old. The disorder is characterized by recurrent episodes of paralysis that involve one or both sides of the body, multiple limbs, or a single limb. The paralysis may affect different parts of the body at different times and may be brief or last for several days. Oftentimes these episodes will resolve after sleep. Affected children may also have abnormal movements involving stiffening or ""dance-like"" movements of a limb, as well as walking and balance problems. Some children have seizures. Children may have normal or delayed development. There are both benign and more serious forms of the disorder. Most children do not have a family history of the disorder; however, recent studies have show that some children with a family history have mutations in the genes CACNA1A, SCN1A, and ATP1A2. Mutations in the ATP1A2 gene have previously been associated with families affect by familial hemiplegic migraine.",Alternating Hemiplegia,0000016,NINDS,http://www.ninds.nih.gov/disorders/alternatinghemiplegia/alternatinghemiplegia.htm,C0338488,T047,Disorders What are the treatments for Alternating Hemiplegia ?,0000016-2,treatment,Drug therapy including verapamil may help to reduce the severity and duration of attacks of paralysis associated with the more serious form of alternating hemiplegia,Alternating Hemiplegia,0000016,NINDS,http://www.ninds.nih.gov/disorders/alternatinghemiplegia/alternatinghemiplegia.htm,C0338488,T047,Disorders What is the outlook for Alternating Hemiplegia ?,0000016-3,outlook,"Children with the benign form of alternating hemiplegia have a good prognosis. Those who experience the more severe form have a poor prognosis because intellectual and mental capacities do not respond to drug therapy, and balance and gait problems continue. Over time, walking unassisted becomes difficult or impossible.",Alternating Hemiplegia,0000016,NINDS,http://www.ninds.nih.gov/disorders/alternatinghemiplegia/alternatinghemiplegia.htm,C0338488,T047,Disorders what research (or clinical trials) is being done for Alternating Hemiplegia ?,0000016-4,research,"The NINDS supports research on paralytic disorders such as alternating hemiplegia, with the goals of learning more about these disorders and finding ways to prevent, treat and, ultimately cure them.",Alternating Hemiplegia,0000016,NINDS,http://www.ninds.nih.gov/disorders/alternatinghemiplegia/alternatinghemiplegia.htm,C0338488,T047,Disorders What is (are) Alzheimer's Disease ?,0000017-1,information,"Alzheimer's disease (AD) is an age-related, non-reversible brain disorder that develops over a period of years. Initially, people experience memory loss and confusion, which may be mistaken for the kinds of memory changes that are sometimes associated with normal aging. However, the symptoms of AD gradually lead to behavior and personality changes, a decline in cognitive abilities such as decision-making and language skills, and problems recognizing family and friends. AD ultimately leads to a severe loss of mental function. These losses are related to the worsening breakdown of the connections between certain neurons in the brain and their eventual death. AD is one of a group of disorders called dementias that are characterized by cognitive and behavioral problems. It is the most common cause of dementia among people age 65 and older. There are three major hallmarks in the brain that are associated with the disease processes of AD. - Amyloid plaques, which are made up of fragments of a protein called beta-amyloid peptide mixed with a collection of additional proteins, remnants of neurons, and bits and pieces of other nerve cells. - Neurofibrillary tangles (NFTs), found inside neurons, are abnormal collections of a protein called tau. Normal tau is required for healthy neurons. However, in AD, tau clumps together. As a result, neurons fail to function normally and eventually die. - Loss of connections between neurons responsible for memory and learning. Neurons can't survive when they lose their connections to other neurons. As neurons die throughout the brain, the affected regions begin to atrophy, or shrink. By the final stage of AD, damage is widespread and brain tissue has shrunk significantly.",Alzheimer's Disease,0000017,NINDS,http://www.ninds.nih.gov/disorders/alzheimersdisease/alzheimersdisease.htm,C0002395,T046,Disorders What are the treatments for Alzheimer's Disease ?,0000017-2,treatment,"Currently there are no medicines that can slow the progression of AD. However, four FDA-approved medications are used to treat AD symptoms. These drugs help individuals carry out the activities of daily living by maintaining thinking, memory, or speaking skills. They can also help with some of the behavioral and personality changes associated with AD. However, they will not stop or reverse AD and appear to help individuals for only a few months to a few years. Donepezil (Aricept), rivastigmine (Exelon), and galantamine (Razadyne) are prescribed to treat mild to moderate AD symptoms. Donepezil was recently approved to treat severe AD as well. The newest AD medication is memantine (Namenda), which is prescribed to treat moderate to severe AD symptoms.",Alzheimer's Disease,0000017,NINDS,http://www.ninds.nih.gov/disorders/alzheimersdisease/alzheimersdisease.htm,C0002395,T046,Disorders What is the outlook for Alzheimer's Disease ?,0000017-3,outlook,"In very few families, people develop AD in their 30s, 40s, and 50s. This is known as ""early onset"" AD. These individuals have a mutation in one of three different inherited genes that causes the disease to begin at an earlier age. More than 90 percent of AD develops in people older than 65. This form of AD is called ""late-onset"" AD, and its development and pattern of damage in the brain is similar to that of early-onset AD. The course of this disease varies from person to person, as does the rate of decline. In most people with AD, symptoms first appear after age 65. We don't yet completely understand the causes of late-onset AD, but they probably include genetic, environmental, and lifestyle factors. Although the risk of developing AD increases with age, AD and dementia symptoms are not a part of normal aging. There are also some forms of dementia that aren't related to brain diseases such as AD, but are caused by systemic abnormalities such as metabolic syndrome, in which the combination of high blood pressure, high cholesterol, and diabetes causes confusion and memory loss.",Alzheimer's Disease,0000017,NINDS,http://www.ninds.nih.gov/disorders/alzheimersdisease/alzheimersdisease.htm,C0002395,T046,Disorders what research (or clinical trials) is being done for Alzheimer's Disease ?,0000017-4,research,"The National Institute of Neurological Disorders and Stroke (NINDS) supports basic and translational research related to AD through grants to major medical institutions across the country. Current studies are investigating how the development of beta amyloid plaques damages neurons, and how abnormalities in tau proteins create the characteristic neurofibrillary tangles of AD. Other research is exploring the impact of risk factors associated with the development of AD, such as pre-existing problems with blood flow in the blood vessels of the brain. Most importantly, the NINDS supports a number of studies that are developing and testing new and novel therapies that can relieve the symptoms of AD and potentially lead to a cure. On May 15, 2012 the Obama Administration announced the release of the National Alzheimers Plan. U.S. Secretary of Health and Human Services Kathleen Sebelius reaffirmed our nations commitment to conquering Alzheimers disease and related dementias, with a specific goal of finding effective ways to prevent and treat the disease by 2025.",Alzheimer's Disease,0000017,NINDS,http://www.ninds.nih.gov/disorders/alzheimersdisease/alzheimersdisease.htm,C0002395,T046,Disorders What is (are) Anencephaly ?,0000019-1,information,"Anencephaly is a defect in the closure of the neural tube during fetal development. The neural tube is a narrow channel that folds and closes between the 3rd and 4th weeks of pregnancy to form the brain and spinal cord of the embryo. Anencephaly occurs when the ""cephalic"" or head end of the neural tube fails to close, resulting in the absence of a major portion of the brain, skull, and scalp. Infants with this disorder are born without a forebrain (the front part of the brain) and a cerebrum (the thinking and coordinating part of the brain). The remaining brain tissue is often exposed--not covered by bone or skin. A baby born with anencephaly is usually blind, deaf, unconscious, and unable to feel pain. Although some individuals with anencephaly may be born with a rudimentary brain stem, the lack of a functioning cerebrum permanently rules out the possibility of ever gaining consciousness. Reflex actions such as breathing and responses to sound or touch may occur. The cause of anencephaly is unknown. Although it is thought that a mother's diet and vitamin intake may play a role, scientists believe that many other factors are also involved. Recent studies have shown that the addition of folic acid (vitamin B9) to the diet of women of childbearing age may significantly reduce the incidence of neural tube defects. Therefore it is recommended that all women of childbearing age consume 0.4 mg of folic acid daily.",Anencephaly,0000019,NINDS,http://www.ninds.nih.gov/disorders/anencephaly/anencephaly.htm,C2021655,T019,Disorders What are the treatments for Anencephaly ?,0000019-2,treatment,There is no cure or standard treatment for anencephaly. Treatment is supportive.,Anencephaly,0000019,NINDS,http://www.ninds.nih.gov/disorders/anencephaly/anencephaly.htm,C2021655,T019,Disorders What is the outlook for Anencephaly ?,0000019-3,outlook,"The prognosis for babies born with anencephaly is extremely poor. If the infant is not stillborn, then he or she will usually die within a few hours or days after birth.",Anencephaly,0000019,NINDS,http://www.ninds.nih.gov/disorders/anencephaly/anencephaly.htm,C2021655,T019,Disorders what research (or clinical trials) is being done for Anencephaly ?,0000019-4,research,"Research supported by the NINDS includes studies to understand how the brain and nervous system normally develop. These studies contribute to a greater understanding of neural tube disorders, such as anencephaly, and open promising new avenues to treat and prevent neurological birth defects.",Anencephaly,0000019,NINDS,http://www.ninds.nih.gov/disorders/anencephaly/anencephaly.htm,C2021655,T019,Disorders What is (are) Cerebral Aneurysms ?,0000020-1,information,"A cerebral aneurysm is a weak or thin spot on a blood vessel in the brain that balloons out and fills with blood. An aneurysm can press on a nerve or surrounding tissue, and also leak or burst, which lets blood spill into surrounding tissues (called a hemorrhage). Cerebral aneurysms can occur at any age, although they are more common in adults than in children and are slightly more common in women than in men. The signs and symptoms of an unruptured cerebral aneurysm will partly depend on its size and rate of growth. For example, a small, unchanging aneurysm will generally produce no symptoms, whereas a larger aneurysm that is steadily growing may produce symptoms such as headache, numbness, loss of feeling in the face or problems with the eyes. Immediately after an aneurysm ruptures, an individual may experience such symptoms as a sudden and unusually severe headache, nausea, vision impairment, vomiting, and loss of consciousness.",Cerebral Aneurysms,0000020,NINDS,http://www.ninds.nih.gov/disorders/cerebral_aneurysm/cerebral_aneurysms.htm,C0917996,T047,Disorders What are the treatments for Cerebral Aneurysms ?,0000020-2,treatment,"For unruptured aneurysms, treatment may be recommended for large or irregularly-shaped aneurysms or for those causing symptoms. Emergency treatment for individuals with a ruptured cerebral aneurysm may be required to restore deteriorating respiration and reduce abnormally high pressure within the brain. Treatment is necessary to prevent the aneurysm from rupturing again. Surgical treatment prevents repeat aneurysm rupture by placing a metal clip at the base of the aneurysm. Individuals for whom surgery is considered too risky may be treated by inserting the tip of a catheter into an artery in the groin and advancing it through the blood stream to the site of the aneurysm, where it is used to insert metal coils that induce clot formation within the aneurysm.",Cerebral Aneurysms,0000020,NINDS,http://www.ninds.nih.gov/disorders/cerebral_aneurysm/cerebral_aneurysms.htm,C0917996,T047,Disorders What is the outlook for Cerebral Aneurysms ?,0000020-3,outlook,"The prognosis for a individual with a ruptured cerebral aneurysm depends on the location of the aneurysm, extent of bleeding or rebleeding, the person's age, general health, pre-existing neurological conditions, adn time between rupture and medical attention. Early diagnosis and treatment are important. A burst cerebral aneurysm may be fatal or could lead to hemorrhagic stroke, vasospasm (in which other blood vessels in the brain contract and limit blood flow), hydrocephalus, coma, or short-term and/or permanent brain damage. Recovery from treatment or rupture may take weeks to months.",Cerebral Aneurysms,0000020,NINDS,http://www.ninds.nih.gov/disorders/cerebral_aneurysm/cerebral_aneurysms.htm,C0917996,T047,Disorders what research (or clinical trials) is being done for Cerebral Aneurysms ?,0000020-4,research,The National Institute of Neurological Disorders and Stroke (NINDS) conducts research in its laboratories at the National Institutes of Health (NIH) and also supports additional research through grants to major medical institutions. The NINDS supports a broad range of basic and clinical research on intracranial aneurysms and other vascular lesions of the nervous system. The Familial Intracranial Aneurysm study seeks to identify possible genes that may increase the risk of development of aneurysms in blood vessels in the brain. Other research projects include genome-wide studies to identify genes or DNA sequences that may indicate families harboring one type of aneurysm may be at increased risk of another type; studies of chromosomes to identify aneurysm-related genes; and additional research on microsurgical clipping and endovascular surgery to treat various types of ruptured and unruptured aneurysms.,Cerebral Aneurysms,0000020,NINDS,http://www.ninds.nih.gov/disorders/cerebral_aneurysm/cerebral_aneurysms.htm,C0917996,T047,Disorders What is (are) Angelman Syndrome ?,0000021-1,information,"Angelman syndrome is a genetic disorder that causes developmental delay and neurological problems. The physician Harry Angelman first delineated the syndrome in 1965, when he described several children in his practice as having ""flat heads, jerky movements, protruding tongues, and bouts of laughter."" Infants with Angelman syndrome appear normal at birth, but often have feeding problems in the first months of life and exhibit noticeable developmental delays by 6 to 12 months. Seizures often begin between 2 and 3 years of age. Speech impairment is pronounced, with little to no use of words. Individuals with this syndrome often display hyperactivity, small head size, sleep disorders, and movement and balance disorders that can cause severe functional deficits. Angelman syndrome results from absence of a functional copy of the UBE3A gene inherited from the mother.",Angelman Syndrome,0000021,NINDS,http://www.ninds.nih.gov/disorders/angelman/angelman.htm,C0162635,T047,Disorders What are the treatments for Angelman Syndrome ?,0000021-2,treatment,"There is no specific therapy for Angelman syndrome. Medical therapy for seizures is usually necessary. Physical and occupational therapies, communication therapy, and behavioral therapies are important in allowing individuals with Angelman syndrome to reach their maximum developmental potential.",Angelman Syndrome,0000021,NINDS,http://www.ninds.nih.gov/disorders/angelman/angelman.htm,C0162635,T047,Disorders What is the outlook for Angelman Syndrome ?,0000021-3,outlook,"Most individuals with Angelman syndrome will have severe developmental delays, speech limitations, and motor difficulties. However, individuals with Angelman syndrome can have normal life spans and generally do not show developmental regression as they age. Early diagnosis and tailored interventions and therapies help improve quality of life.",Angelman Syndrome,0000021,NINDS,http://www.ninds.nih.gov/disorders/angelman/angelman.htm,C0162635,T047,Disorders what research (or clinical trials) is being done for Angelman Syndrome ?,0000021-4,research,"The NINDS supports and conducts research on neurogenetic disorders such as Angelman syndrome, to develop techniques to diagnose, treat, prevent, and ultimately cure them.",Angelman Syndrome,0000021,NINDS,http://www.ninds.nih.gov/disorders/angelman/angelman.htm,C0162635,T047,Disorders What is (are) Von Hippel-Lindau Disease (VHL) ?,0000022-1,information,"von Hippel-Lindau disease (VHL) is a rare, genetic multi-system disorder in which non-cancerous tumors grow in certain parts of the body. Slow-growing hemgioblastomas -- benign tumors with many blood vessels -- may develop in the brain, spinal cord, the retinas of the eyes, and near the inner ear. Cysts (fluid-filled sacs) may develop around the hemangioblastomas. Other types of tumors develop in the adrenal glands, the kidneys, or the pancreas. Symptoms of VHL vary among individuals and depend on the size and location of the tumors. Symptoms may include headaches, problems with balance and walking, dizziness, weakness of the limbs, vision problems, deafness in one ear, and high blood pressure. Individuals with VHL are also at a higher risk than normal for certain types of cancer, especially kidney cancer.",Von Hippel-Lindau Disease (VHL),0000022,NINDS,http://www.ninds.nih.gov/disorders/von_hippel_lindau/von_hippel_lindau.htm,C1402998,T019,Disorders What are the treatments for Von Hippel-Lindau Disease (VHL) ?,0000022-2,treatment,"Treatment for VHL varies according to the location and size of the tumor. In general, the objective of treatment is to treat the tumors before they grow to a size large enough to cause permanent problems by putting pressure on the brain or spinal cord. this pressure can block the flow of cerebrospinal fluid in the nervous system, impair vision, or create deafness. Treatment of most cases of VHL usually involves surgery to remove the tumors before they become harmful. Certain tumors can be treated with focused high-dose irradiation. Individuals with VHL need careful monitoring by a physician and/or medical team familiar with the disorder.",Von Hippel-Lindau Disease (VHL),0000022,NINDS,http://www.ninds.nih.gov/disorders/von_hippel_lindau/von_hippel_lindau.htm,C1402998,T019,Disorders What is the outlook for Von Hippel-Lindau Disease (VHL) ?,0000022-3,outlook,"The prognosis for individuals with VHL depends on then number, location, and complications of the tumors. Untreated, VHL may result in blindness and/or permanent brain damage. With early detection and treatment the prognosis is significantly improved. Death is usually caused by complications of brain tumors or kidney cancer.",Von Hippel-Lindau Disease (VHL),0000022,NINDS,http://www.ninds.nih.gov/disorders/von_hippel_lindau/von_hippel_lindau.htm,C1402998,T019,Disorders what research (or clinical trials) is being done for Von Hippel-Lindau Disease (VHL) ?,0000022-4,research,"The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system, and to use that knowledge to reduce the burden of neurological disease. The NINDS pursues a vigorous program of research aimed at preventing and treating disorders that cause tumors in the brain and spinal cord such as VHL. A natural history study hopes to learn more about the growth of brain and spinal cord tumors, as well as cysts that develop in association with them in individuals with VHL. Researchers will examine how fast the tumors grow and try to determine which factors (such as puberty, pregnancy, menopause, or blood proteins) affect tumor growth. Based on laboratory findings, NINDS researchers are planning drug trials for individuals with VHL. For example, NNDS scientists hope to learn if a drug that fights other cancers might slow the growth of hemangioblastomas in some people with VHL. The NIH's National Cancer Institute conducts research aimed at treating kidney tumors in individuals with VHL, as well as studies to identify gene mutations in people who are at risk of developing the disease..",Von Hippel-Lindau Disease (VHL),0000022,NINDS,http://www.ninds.nih.gov/disorders/von_hippel_lindau/von_hippel_lindau.htm,C1402998,T019,Disorders What is (are) Cerebral Hypoxia ?,0000023-1,information,"Cerebral hypoxia refers to a condition in which there is a decrease of oxygen supply to the brain even though there is adequate blood flow. Drowning, strangling, choking, suffocation, cardiac arrest, head trauma, carbon monoxide poisoning, and complications of general anesthesia can create conditions that can lead to cerebral hypoxia. Symptoms of mild cerebral hypoxia include inattentiveness, poor judgment, memory loss, and a decrease in motor coordination. Brain cells are extremely sensitive to oxygen deprivation and can begin to die within five minutes after oxygen supply has been cut off. When hypoxia lasts for longer periods of time, it can cause coma, seizures, and even brain death. In brain death, there is no measurable activity in the brain, although cardiovascular function is preserved. Life support is required for respiration.",Cerebral Hypoxia,0000023,NINDS,http://www.ninds.nih.gov/disorders/anoxia/anoxia.htm,C1527348,T046,Disorders What are the treatments for Cerebral Hypoxia ?,0000023-2,treatment,"Treatment depends on the underlying cause of the hypoxia, but basic life-support systems have to be put in place: mechanical ventilation to secure the airway; fluids, blood products, or medications to support blood pressure and heart rate; and medications to suppress seizures.",Cerebral Hypoxia,0000023,NINDS,http://www.ninds.nih.gov/disorders/anoxia/anoxia.htm,C1527348,T046,Disorders What is the outlook for Cerebral Hypoxia ?,0000023-3,outlook,"Recovery depends on how long the brain has been deprived of oxygen and how much brain damage has occurred, although carbon monoxide poisoning can cause brain damage days to weeks after the event. Most people who make a full recovery have only been briefly unconscious. The longer someone is unconscious, the higher the chances of death or brain death and the lower the chances of a meaningful recovery. During recovery, psychological and neurological abnormalities such as amnesia, personality regression, hallucinations, memory loss, and muscle spasms and twitches may appear, persist, and then resolve.",Cerebral Hypoxia,0000023,NINDS,http://www.ninds.nih.gov/disorders/anoxia/anoxia.htm,C1527348,T046,Disorders what research (or clinical trials) is being done for Cerebral Hypoxia ?,0000023-4,research,"The NINDS supports and conducts studies aimed at understanding neurological conditions that can damage the brain, such as cerebral hypoxia. The goals of these studies are to find ways to prevent and treat these conditions.",Cerebral Hypoxia,0000023,NINDS,http://www.ninds.nih.gov/disorders/anoxia/anoxia.htm,C1527348,T046,Disorders What is (are) Antiphospholipid Syndrome ?,0000024-1,information,"Antiphospholipid syndrome (APS) is an autoimmune disorder caused when antibodies -- immune system cells that fight off bacteria and viruses -- mistakenly attack healthy body tissues and organs. In APS, specific antibodies activate the inner lining of blood vessels, which leads to the formation of blood clots in arteries or veins. APS is sometimes called sticky blood syndrome, because of the increased tendency to form blood clots in the veins and arteries. The symptoms of APS are due to the abnormal blood clotting. Clots can develop in the veins of the legs and lungs, or in the placenta of pregnant women. One of the most serious complications of APS occurs when a clot forms in the brain and causes a stroke. Other neurological symptoms include chronic headaches, dementia (similar to the dementia of Alzheimers disease), and seizures. Infrequently, individuals will develop chorea (a movement disorder in which the body and limbs writhe uncontrollably), cognitive dysfunction (such as poor memory), transverse myelitis, depression or psychosis, optic neuropathy, or sudden hearing loss. In pregnant women, clots in the placenta can cause miscarriages. APS is diagnosed by the presence of a positive antiphospholipid antibody and either a history of blood clots in an artery or vein or a history of multiple miscarriages or other pregnancy problems. Some individuals will have a characteristic lacy, net-like red rash called livedo reticularis over their wrists and knees.",Antiphospholipid Syndrome,0000024,NINDS,http://www.ninds.nih.gov/disorders/antiphosphlipid/antiphospholipid.htm,C0085278,T047,Disorders What are the treatments for Antiphospholipid Syndrome ?,0000024-2,treatment,"The main goal of treatment is to thin the blood to reduce clotting. At present, the recommended treatment is low-dose aspirin. For individuals who have already had a stroke or experience recurrent clots, doctors recommend treatment with the anticoagulant warfarin. Pregnant women are treated with either aspirin or another anticoagulant -- heparin -- since warfarin can cause birth defects.",Antiphospholipid Syndrome,0000024,NINDS,http://www.ninds.nih.gov/disorders/antiphosphlipid/antiphospholipid.htm,C0085278,T047,Disorders What is the outlook for Antiphospholipid Syndrome ?,0000024-3,outlook,"APS improves significantly with anticoagulation therapy, which reduces the risk of further clots in veins and arteries. Treatment should be lifelong, since there is a high risk of further clots in individuals who stop warfarin treatment. Doctors often recommend that individuals stop smoking, exercise regularly, and eat a healthy diet to prevent high blood pressure and diabetes, which are diseases that increase the risk for stroke. Treating pregnant women with aspirin or heparin usually prevents miscarriages related to APS.",Antiphospholipid Syndrome,0000024,NINDS,http://www.ninds.nih.gov/disorders/antiphosphlipid/antiphospholipid.htm,C0085278,T047,Disorders what research (or clinical trials) is being done for Antiphospholipid Syndrome ?,0000024-4,research,"The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) support research on APS through grants to major medical institutions across the country.NINDS-funded research is looking at ways to reduce clotting and prevent stroke. Among other NIH-funded research efforts, scientists are examining the role of antiphospholipid antibodies in clotting and pregnancy loss, which is commonly seen in individuals with lupus. Another project hopes to identify potential inherited risk factors for the development of APS.",Antiphospholipid Syndrome,0000024,NINDS,http://www.ninds.nih.gov/disorders/antiphosphlipid/antiphospholipid.htm,C0085278,T047,Disorders What is (are) Aphasia ?,0000025-1,information,"Aphasia is a neurological disorder caused by damage to the portions of the brain that are responsible for language production or processing. It may occur suddenly or progressively, depending on the type and location of brain tissue involved. Primary signs of the disorder include difficulty in expressing oneself when speaking, trouble understanding speech, and difficulty with reading and writing. Aphasia is not a disease, but a symptom of brain damage. Although it is primarily seen in individuals who have suffered a stroke, aphasia can also result from a brain tumor, infection, inflammation, head injury, or dementia that affect language-associated regions of the brain. It is estimated that about 1 million people in the United States today suffer from aphasia. The type and severity of language dysfunction depends on the precise location and extent of the damaged brain tissue. Generally, aphasia can be divided into four broad categories: (1) Expressive aphasia (also called Broca's aphasia) involves difficulty in conveying thoughts through speech or writing. The person knows what she/he wants to say, but cannot find the words he needs. (2) Receptive aphasia (Wernicke's aphasia) involves difficulty understanding spoken or written language. The individual hears the voice or sees the print but cannot make sense of the words. (3) Global aphasia results from severe and extensive damage to the language areas of the brain. People lose almost all language function, both comprehension and expression. They cannot speak or understand speech, nor can they read or write. (4) Indiivfduals with anomic or amnesia aphasia, the least severe form of aphasia, have difficulty in using the correct names for particular objects, people, places, or events.",Aphasia,0000025,NINDS,http://www.ninds.nih.gov/disorders/aphasia/aphasia.htm,C0003537,T048,Disorders What are the treatments for Aphasia ?,0000025-2,treatment,"In some instances, an individual will completely recover from aphasia without treatment. In most cases, however, language therapy should begin as soon as possible and be tailored to the individual needs of the person. Rehabilitation with a speech pathologist involves extensive exercises in which individuals read, write, follow directions, and repeat what they hear. Computer-aided therapy may supplement standard language therapy.",Aphasia,0000025,NINDS,http://www.ninds.nih.gov/disorders/aphasia/aphasia.htm,C0003537,T048,Disorders What is the outlook for Aphasia ?,0000025-3,outlook,"The outcome of aphasia is difficult to predict given the wide range of variability of the condition. Generally, people who are younger or have less extensive brain damage fare better. The location of the injury is also important and is another clue to prognosis. In general, people tend to recover skills in language comprehension more completely than those skills involving expression.",Aphasia,0000025,NINDS,http://www.ninds.nih.gov/disorders/aphasia/aphasia.htm,C0003537,T048,Disorders what research (or clinical trials) is being done for Aphasia ?,0000025-4,research,"The National Institute of Neurological Disorders and Stroke and the National Institute on Deafness and Other Communication Disorders conduct and support a broad range of scientific investigations to increase our understanding of aphasia, find better treatments, and discover improved methods to restore lost function to people who have aphasia.",Aphasia,0000025,NINDS,http://www.ninds.nih.gov/disorders/aphasia/aphasia.htm,C0003537,T048,Disorders What is (are) Apraxia ?,0000026-1,information,"Apraxia (called ""dyspraxia"" if mild) is a neurological disorder characterized by loss of the ability to execute or carry out skilled movements and gestures, despite having the desire and the physical ability to perform them. Apraxia results from dysfunction of the cerebral hemispheres of the brain, especially the parietal lobe, and can arise from many diseases or damage to the brain. There are several kinds of apraxia, which may occur alone or together. The most common is buccofacial or orofacial apraxia, which causes the inability to carry out facial movements on command such as licking lips, whistling, coughing, or winking. Other types of apraxia include limb-kinetic apraxia (the inability to make fine, precise movements with an arm or leg), ideomotor apraxia (the inability to make the proper movement in response to a verbal command), ideational apraxia (the inability to coordinate activities with multiple, sequential movements, such as dressing, eating, and bathing), verbal apraxia (difficulty coordinating mouth and speech movements), constructional apraxia (the inability to copy, draw, or construct simple figures), and oculomotor apraxia (difficulty moving the eyes on command). Apraxia may be accompanied by a language disorder called aphasia. Corticobasal ganglionic degeneration is a disease that causes a variety of types of apraxia, especially in elderly adults.",Apraxia,0000026,NINDS,http://www.ninds.nih.gov/disorders/apraxia/apraxia.htm,C0003635,T048,Disorders What are the treatments for Apraxia ?,0000026-2,treatment,"Generally, treatment for individuals with apraxia includes physical, speech,or occupational therapy. If apraxia is a symptom of another disorder, the underlying disorder should be treated.",Apraxia,0000026,NINDS,http://www.ninds.nih.gov/disorders/apraxia/apraxia.htm,C0003635,T048,Disorders What is the outlook for Apraxia ?,0000026-3,outlook,The prognosis for individuals with apraxia varies and depends partly on the underlying cause. Some individuals improve significantly while others may show very little improvement.,Apraxia,0000026,NINDS,http://www.ninds.nih.gov/disorders/apraxia/apraxia.htm,C0003635,T048,Disorders what research (or clinical trials) is being done for Apraxia ?,0000026-4,research,"The NINDS supports research on movement disorders and conditions such as apraxia. The goals of this research are to increase scientific understanding of these disorders, and to find ways to prevent, treat, and cure them.",Apraxia,0000026,NINDS,http://www.ninds.nih.gov/disorders/apraxia/apraxia.htm,C0003635,T048,Disorders What is (are) Arachnoid Cysts ?,0000027-1,information,"Arachnoid cysts are cerebrospinal fluid-filled sacs that are located between the brain or spinal cord and the arachnoid membrane, one of the three membranes that cover the brain and spinal cord. Primary arachnoid cysts are present at birth and are the result of developmental abnormalities in the brain and spinal cord that arise during the early weeks of gestation. Secondary arachnoid cysts are not as common as primary cysts and develop as a result of head injury, meningitis, or tumors, or as a complication of brain surgery. The majority of arachnoid cysts form outside the temporal lobe of the brain in an area of the skull known as the middle cranial fossa. Arachnoid cysts involving the spinal cord are rarer. The location and size of the cyst determine the symptoms and when those symptoms begin. Most individuals with arachnoid cysts develop symptoms before the age of 20, and especially during the first year of life, but some people with arachnoid cysts never have symptoms. Males are four times more likely to have arachnoid cysts than females. Typical symptoms of an arachnoid cyst around the brain include headache, nausea and vomiting, seizures, hearing and visual disturbances, vertigo, and difficulties with balance and walking. Arachnoid cysts around the spinal cord compress the spinal cord or nerve roots and cause symptoms such as progressive back and leg pain and tingling or numbness in the legs or arms. Diagnosis usually involves a brain scan or spine scan using diffusion-weighted MRI (magnetic resonance imaging) which helps distinguish fluid-filled arachnoid cysts from other types of cysts.",Arachnoid Cysts,0000027,NINDS,http://www.ninds.nih.gov/disorders/arachnoid_cysts/arachnoid_cysts.htm,C0078981,T047,Disorders What are the treatments for Arachnoid Cysts ?,0000027-2,treatment,"There has been active debate about how to treat arachnoid cysts. The need for treatment depends mostly upon the location and size of the cyst. If the cyst is small, not disturbing surrounding tissue, and not causing symptoms, some doctors will refrain from treatment. In the past, doctors placed shunts in the cyst to drain its fluid. Now with microneurosurgical techniques and endoscopic tools that allow for minimally invasive surgery, more doctors are opting to surgically remove the membranes of the cyst or open the cyst so its fluid can drain into the cerebrospinal fluid and be absorbed.",Arachnoid Cysts,0000027,NINDS,http://www.ninds.nih.gov/disorders/arachnoid_cysts/arachnoid_cysts.htm,C0078981,T047,Disorders What is the outlook for Arachnoid Cysts ?,0000027-3,outlook,"Untreated, arachnoid cysts may cause permanent severe neurological damage when progressive expansion of the cyst(s) or bleeding into the cyst injures the brain or spinal cord. Symptoms usually resolve or improve with treatment.",Arachnoid Cysts,0000027,NINDS,http://www.ninds.nih.gov/disorders/arachnoid_cysts/arachnoid_cysts.htm,C0078981,T047,Disorders what research (or clinical trials) is being done for Arachnoid Cysts ?,0000027-4,research,"The National Institute of Neurological Disorders and Stroke (NINDS) conducts research related to brain abnormalities and disorders of the nervous system such as arachnoid cysts in laboratories at the National Institutes of Health (NIH), and supports additional research through grants to major medical institutions across the country. Much of this research focuses on finding better ways to prevent, treat, and ultimately cure neurological disorders such as arachnoid cysts.",Arachnoid Cysts,0000027,NINDS,http://www.ninds.nih.gov/disorders/arachnoid_cysts/arachnoid_cysts.htm,C0078981,T047,Disorders What is (are) Arachnoiditis ?,0000028-1,information,"Arachnoiditis describes a pain disorder caused by the inflammation of the arachnoid, one of the membranes that surround and protect the nerves of the spinal cord. The arachnoid can become inflamed because of an irritation from chemicals, infection from bacteria or viruses, as the result of direct injury to the spine, chronic compression of spinal nerves, or complications from spinal surgery or other invasive spinal procedures. Inflammation can sometimes lead to the formation of scar tissue and adhesions, which cause the spinal nerves to stick together. If arachnoiditis begins to interfere with the function of one or more of these nerves, it can cause a number of symptoms, including numbness, tingling, and a characteristic stinging and burning pain in the lower back or legs. Some people with arachnoiditis will have debilitating muscle cramps, twitches, or spasms. It may also affect bladder, bowel, and sexual function. In severe cases, arachnoiditis may cause paralysis of the lower limbs.",Arachnoiditis,0000028,NINDS,http://www.ninds.nih.gov/disorders/arachnoiditis/arachnoiditis.htm,C0003708,T047,Disorders What are the treatments for Arachnoiditis ?,0000028-2,treatment,"Arachnoiditis remains a difficult condition to treat, and long-term outcomes are unpredictable. Most treatments for arachnoiditis are focused on pain relief and the improvement of symptoms that impair daily function. A regimen of pain management, physiotheraphy, exercise, and psychotheraphy is often recommended. Surgical intervention is controversial since the outcomes are generally poor and provide only short-term relief.",Arachnoiditis,0000028,NINDS,http://www.ninds.nih.gov/disorders/arachnoiditis/arachnoiditis.htm,C0003708,T047,Disorders What is the outlook for Arachnoiditis ?,0000028-3,outlook,Arachnoiditis is adisorder that causes chronic pain and neurological deficits and does not improve significantly with treatment.Surgery may only provide temporary relief. The outlook for someone witharachnoiditis iscomplicated by the fact that the disorder has no predictable pattern or severity of symptoms.,Arachnoiditis,0000028,NINDS,http://www.ninds.nih.gov/disorders/arachnoiditis/arachnoiditis.htm,C0003708,T047,Disorders what research (or clinical trials) is being done for Arachnoiditis ?,0000028-4,research,"Within the NINDS research programs, arachnoiditis is addressed primarily through studies associated with pain research. NINDS vigorously pursues a research program seeking new treatments for pain and nerve damage with the ultimate goal of reversing debilitating conditions such as arachnoiditis.",Arachnoiditis,0000028,NINDS,http://www.ninds.nih.gov/disorders/arachnoiditis/arachnoiditis.htm,C0003708,T047,Disorders What is (are) Chiari Malformation ?,0000029-1,information,"Chiari malformations (CMs) are structural defects in the cerebellum, the part of the brain that controls balance. When the indented bony space at the lower rear of the skull is smaller than normal, the cerebellum and brain stem can be pushed downward. The resulting pressure on the cerebellum can block the flow of cerebrospinal fluid (the liquid that surrounds and protects the brain and spinal cord) and can cause a range of symptoms including dizziness, muscle weakness, numbness, vision problems, headache, and problems with balance and coordination. Symptoms may change for some individuals depending on buildup of CNS and any resulting pressure on tissue and nerves. CMs are classified by the severity of the disorder and the parts of the brain that protrude into the spinal canal. The most common is Type I, which may not cause symptoms and is often found by accident during an examination for another condition. Type II (also called Arnold-Chiari malformation) is usually accompanied by a myelomeningocele-a form of spina bifida that occurs when the spinal canal and backbone do not close before birth, causing the spinal cord to protrude through an opening in the back. This can cause partial or complete paralysis below the spinal opening. Type III is the most serious form of CM, and causes severe neurological defects. Other conditions sometimes associated with CM include hydrocephalus, syringomyelia (a fluid-filled cyst in the spinal cord), and spinal curvature.",Chiari Malformation,0000029,NINDS,http://www.ninds.nih.gov/disorders/chiari/chiari.htm,C0003803,T019,Disorders What are the treatments for Chiari Malformation ?,0000029-2,treatment,"Medications may ease certain symptoms, such as pain. Surgery is the only treatment available to correct functional disturbances or halt the progression of damage to the central nervous system. More than one surgery may be needed to treat the condition. Some CMs have no noticeable symptoms and do not interfere with the person's activities of daily living.",Chiari Malformation,0000029,NINDS,http://www.ninds.nih.gov/disorders/chiari/chiari.htm,C0003803,T019,Disorders What is the outlook for Chiari Malformation ?,0000029-3,outlook,"Many people with Type I CM are asymptomatic and do not know they have the condition. Many individuals with the more severe types of CM and have surgery see a reduction in their symptoms and/or prolonged periods of relative stability, although paralysis is generally permanent.",Chiari Malformation,0000029,NINDS,http://www.ninds.nih.gov/disorders/chiari/chiari.htm,C0003803,T019,Disorders what research (or clinical trials) is being done for Chiari Malformation ?,0000029-4,research,"The NINDS supports research on disorders of the brain and nervous system such as Chiari malformations. The goals of this research are to increase scientific understanding of these disorders and to find ways to prevent, treat, and, ultimately, cure them. Current NINDS-funded research includes studies to better understand the genetic factors responsible for the malformation, and factors that influence the development, progression, and relief of symptoms among people with syringomyelia, including those with Chiari I malformations.",Chiari Malformation,0000029,NINDS,http://www.ninds.nih.gov/disorders/chiari/chiari.htm,C0003803,T019,Disorders What is (are) Arteriovenous Malformation ?,0000030-1,information,"Arteriovenous malformations (AVMs) are abnormal, snarled tangles of blood vessels that cause multiple irregular connections between the arteries and veins. These malformations most often occur in the spinal cord and in any part of the brain or on its surface, but can develop elsewhere in the body. AVMs can damage the brain and spinal cord by reducing the amount of oxygen reaching neurological tissues, bleeding into surrounding tissue (hemorrhage) that can cause stroke or brain damage, and by compressing or displacing parts of the brain or spinal cord. Many people with an AVM experience few, if any, significant symptoms, which can include headache, weakness, seizures, pain, and problems with speech, vision, or movement. Most often AVMs are congenital, but they can appear sporadically. In some cases the AVM may be inherited, but it is more likely that other inherited conditions increase the risk of having an AVM. The malformations tend to be discovered only incidentally, usually during treatment for an unrelated disorder or at autopsy.",Arteriovenous Malformation,0000030,NINDS,http://www.ninds.nih.gov/disorders/avms/avms.htm,C0334533,T019,Disorders What are the treatments for Arteriovenous Malformation ?,0000030-2,treatment,"Treatment options depend on the type of AVM, its location, noticeable symptoms, and the general health condition of the individual. Medication can often alleviate general symptoms such as headache, back pain, and seizures caused by AVMs and other vascular lesions. The definitive treatment for AVMs is either surgery to either remove the AVM or to create an artificial blood clot to close the lesion or focused irradiation treatment that is designed to damage the blood vessel walls and close the lesion. The decision to treat an AVM requires a careful consideration of possible benefits versus risks.",Arteriovenous Malformation,0000030,NINDS,http://www.ninds.nih.gov/disorders/avms/avms.htm,C0334533,T019,Disorders What is the outlook for Arteriovenous Malformation ?,0000030-3,outlook,"The greatest potential danger posed by AVMs is hemorrhage. Most episodes of bleeding remain undetected at the time they occur because they are not severe enough to cause significant neurological damage. But massive, even fatal, bleeding episodes do occur. Whenever an AVM is detected, the individual should be carefully and consistently monitored for any signs of instability that may indicate an increased risk of hemorrhage. Individuals who are treated require brain imaging afterwards to evaluate if the AVM has been completely removed or destroyed. The risk of hemorrhage remains if some of the AVM persists despite treatment.",Arteriovenous Malformation,0000030,NINDS,http://www.ninds.nih.gov/disorders/avms/avms.htm,C0334533,T019,Disorders what research (or clinical trials) is being done for Arteriovenous Malformation ?,0000030-4,research,"The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system, and to use that knowledge to reduce the burden of neurological disease. The NINDS has established an Arteriovenous Study Group to learn more about the natural causes of AVMs and to improve surgical treatment of these lesions. An NINDS study at Columbia University, A Randomized Trial of Unruptured Brain AVMs (ARUBA), showed that medical management alone is superior to medical management and interventional therapy (conventional surgery, endovascular procedures, and radiosurgery) for improving the long-term outcome of individuals with unruptured brain arteriovenous malformations. Data from a recently closed observational phase will show if the disparities continued over the additional five years of follow-up. Among other NINDS-funded research, scientists are testing a class of drugs called beta-blockers to see if they may lead to the development of new treatments for people with vascular malformations. Other NINDS-funded investigators hope to develop biomarkers (signs that may indicate risk of a disease) for AVM that may improve risk assessment and aid in the choice of therapy that may provide maximize benefit with minimal risk to the individual. Additional NINDS-funded research hopes to determine molecular pathways fundamental to the formation of brain AVMs.",Arteriovenous Malformation,0000030,NINDS,http://www.ninds.nih.gov/disorders/avms/avms.htm,C0334533,T019,Disorders What is (are) Asperger Syndrome ?,0000031-1,information,"Asperger syndrome (AS) is a developmental disorder. It is an autism spectrum disorder (ASD), one of a distinct group of neurological conditions characterized by a greater or lesser degree of impairment in language and communication skills, as well as repetitive or restrictive patterns of thought and behavior. Other ASDs include: classic autism, Rett syndrome, childhood disintegrative disorder, and pervasive developmental disorder not otherwise specified (usually referred to as PDD-NOS). Unlike children with autism, children with AS retain their early language skills. The most distinguishing symptom of AS is a childs obsessive interest in a single object or topic to the exclusion of any other. Children with AS want to know everything about their topic of interest and their conversations with others will be about little else. Their expertise, high level of vocabulary, and formal speech patterns make them seem like little professors. Other characteristics of AS include repetitive routines or rituals; peculiarities in speech and language; socially and emotionally inappropriate behavior and the inability to interact successfully with peers; problems with non-verbal communication; and clumsy and uncoordinated motor movements. Children with AS are isolated because of their poor social skills and narrow interests. They may approach other people, but make normal conversation impossible by inappropriate or eccentric behavior, or by wanting only to talk about their singular interest.Children with AS usually have a history of developmental delays in motor skills such as pedaling a bike, catching a ball, or climbing outdoor play equipment. They are often awkward and poorly coordinated with a walk that can appear either stilted or bouncy.",Asperger Syndrome,0000031,NINDS,http://www.ninds.nih.gov/disorders/asperger/asperger.htm,C0236792,T048,Disorders What are the treatments for Asperger Syndrome ?,0000031-2,treatment,"The ideal treatment for AS coordinates therapies that address the three core symptoms of the disorder: poor communication skills, obsessive or repetitive routines, and physical clumsiness. There is no single best treatment package for all children with AS, but most professionals agree that the earlier the intervention, the better. An effective treatment program builds on the childs interests, offers a predictable schedule, teaches tasks as a series of simple steps, actively engages the childs attention in highly structured activities, and provides regular reinforcement of behavior. It may include social skills training, cognitive behavioral therapy, medication for co-existing conditions, and other measures.",Asperger Syndrome,0000031,NINDS,http://www.ninds.nih.gov/disorders/asperger/asperger.htm,C0236792,T048,Disorders What is the outlook for Asperger Syndrome ?,0000031-3,outlook,"With effective treatment, children with AS can learn to cope with their disabilities, but they may still find social situations and personal relationships challenging. Many adults with AS are able to work successfully in mainstream jobs, although they may continue to need encouragement and moral support to maintain an independent life.",Asperger Syndrome,0000031,NINDS,http://www.ninds.nih.gov/disorders/asperger/asperger.htm,C0236792,T048,Disorders what research (or clinical trials) is being done for Asperger Syndrome ?,0000031-4,research,"Many of the Institutes at the NIH, including the NINDS, are sponsoring research to understand what causes AS and how it can be effectively treated. One study is using functional magnetic resonance imaging (fMRI) to show how abnormalities in particular areas of the brain cause changes in brain function that result in the symptoms of AS and other ASDs.Other studies include aclinical trial testing the effectiveness of an anti-depressant in individuals with AS and HFA who exhibit high levels of obsessive/ritualistic behavior and a long-range study to collect and analyze DNA samples from a large group of children with AS and HFA and their families to identify genes and genetic interactions that are linked to AS and HFA.",Asperger Syndrome,0000031,NINDS,http://www.ninds.nih.gov/disorders/asperger/asperger.htm,C0236792,T048,Disorders What is (are) Ataxia ?,0000032-1,information,"Ataxia often occurs when parts of the nervous system that control movement are damaged. People with ataxia experience a failure of muscle control in their arms and legs, resulting in a lack of balance and coordination or a disturbance of gait. While the term ataxia is primarily used to describe this set of symptoms, it is sometimes also used to refer to a family of disorders. It is not, however, a specific diagnosis. Most disorders that result in ataxia cause cells in the part of the brain called the cerebellum to degenerate, or atrophy. Sometimes the spine is also affected. The phrases cerebellar degeneration and spinocerebellar degeneration are used to describe changes that have taken place in a persons nervous system; neither term constitutes a specific diagnosis. Cerebellar and spinocerebellar degeneration have many different causes. The age of onset of the resulting ataxia varies depending on the underlying cause of the degeneration. Many ataxias are hereditary and are classified by chromosomal location and pattern of inheritance: autosomal dominant, in which the affected person inherits a normal gene from one parent and a faulty gene from the other parent; and autosomal recessive, in which both parents pass on a copy of the faulty gene. Among the more common inherited ataxias are Friedreichs ataxia and Machado-Joseph disease. Sporadic ataxias can also occur in families with no prior history. Ataxia can also be acquired. Conditions that can cause acquired ataxia include stroke, multiple sclerosis, tumors, alcoholism, peripheral neuropathy, metabolic disorders, and vitamin deficiencies.",Ataxia,0000032,NINDS,http://www.ninds.nih.gov/disorders/ataxia/ataxia.htm,C0004134,T184,Disorders What are the treatments for Ataxia ?,0000032-2,treatment,"There is no cure for the hereditary ataxias. If the ataxia is caused by another condition, that underlying condition is treated first. For example, ataxia caused by a metabolic disorder may be treated with medications and a controlled diet. Vitamin deficiency is treated with vitamin therapy. A variety of drugs may be used to either effectively prevent symptoms or reduce the frequency with which they occur. Physical therapy can strengthen muscles, while special devices or appliances can assist in walking and other activities of daily life.",Ataxia,0000032,NINDS,http://www.ninds.nih.gov/disorders/ataxia/ataxia.htm,C0004134,T184,Disorders What is the outlook for Ataxia ?,0000032-3,outlook,The prognosis for individuals with ataxia and cerebellar/spinocerebellar degeneration varies depending on its underlying cause.,Ataxia,0000032,NINDS,http://www.ninds.nih.gov/disorders/ataxia/ataxia.htm,C0004134,T184,Disorders what research (or clinical trials) is being done for Ataxia ?,0000032-4,research,"The NINDS supports and conducts a broad range of basic and clinical research on cerebellar and spinocerebellar degeneration, including work aimed at finding the cause(s) of ataxias and ways to treat, cure, and, ultimately, prevent them. Scientists are optimistic that understanding the genetics of these disorders may lead to breakthroughs in treatment.",Ataxia,0000032,NINDS,http://www.ninds.nih.gov/disorders/ataxia/ataxia.htm,C0004134,T184,Disorders What is (are) Ataxia Telangiectasia ?,0000033-1,information,"Ataxia-telangiectasia is a rare, childhood neurological disorder that causes degeneration in the part of the brain that controls motor movements and speech. The first signs of the disease are unsteady walking and slurred speech, usually occurring during the first five years of life. Telangiectasias (tiny, red ""spider"" veins), which appear in the corners of the eyes or on the surface of the ears and cheeks, are characteristic of the disease, but are not always present and generally do not appear in the first years of life. About 35 percent of those with A-T develop cancer, most frequently acute lymphocytic leukemia or lymphoma. The most unusual symptom is an acute sensitivity to ionizing radiation, such as X-rays or gamma rays. Many individuals with A-T have a weakened immune system, making them susceptible to recurrent respiratory infections. Other features of the disease may include mild diabetes mellitus, premature graying of the hair, difficulty swallowing, and delayed physical and sexual development. Children with A-T usually have normal or above normal intelligence.",Ataxia Telangiectasia,0000033,NINDS,http://www.ninds.nih.gov/disorders/a_t/a-t.htm,C0004135,T019,Disorders What are the treatments for Ataxia Telangiectasia ?,0000033-2,treatment,"There is no cure for A-T and, currently, no way to slow the progression of the disease. Treatment is symptomatic and supportive. Physical and occupational therapy help to maintain flexibility. Speech therapy is important, teaching children to control air flow to the vocal cords. Gamma-globulin injections may be useful if immunoglobulin levels are sufficiently reduced to weaken the immune system. High-dose vitamin regimens and antioxidants such as alpha lipoic acid also may also be used.",Ataxia Telangiectasia,0000033,NINDS,http://www.ninds.nih.gov/disorders/a_t/a-t.htm,C0004135,T019,Disorders What is the outlook for Ataxia Telangiectasia ?,0000033-3,outlook,"Average lifespan has been improving for years, for unknown reasons, and varies with the severity of the underlying mutations, ATM (ataxia-telangiectasia mutated) protein levels, and residual ATM kinase activity. Some individuals with later onset of disease and slower progression survive into their 50s.",Ataxia Telangiectasia,0000033,NINDS,http://www.ninds.nih.gov/disorders/a_t/a-t.htm,C0004135,T019,Disorders what research (or clinical trials) is being done for Ataxia Telangiectasia ?,0000033-4,research,"NINDS-supported researchers discovered the gene responsible for A-T, known as ATM (ataxia-telangiectasia mutated) in 1995. This gene makes a protein that activates many (probably more than 700) other proteins that control cell cycle, DNA repair, and cell death. Without it, cells are unable to activate the cellular checkpoints that protect against the damage of ionizing radiation and other agents that can harm DNA. In addition to supporting basic research on A-T, NINDS also funds research aimed at A-T drug development, including development of animal models, gene and stem-cell based therapies, and high-throughput drug screens. The NINDS also leads a trans-NIH A-T Working Group whose members include NINDS, NHLBI, NIEHS, NCI, NEI, NIGMS, NHGRI, NIA, NIAID, NICHD, and ORD.",Ataxia Telangiectasia,0000033,NINDS,http://www.ninds.nih.gov/disorders/a_t/a-t.htm,C0004135,T019,Disorders What is (are) Atrial Fibrillation and Stroke ?,0000034-1,information,"Atrial fibrillation (AF) describes the rapid, irregular beating of the left atrium (upper chamber) of the heart. These rapid contractions of the heart are weaker than normal contractions, resulting in slow flow of blood in the atrium. The blood pools and becomes sluggish and can result in the formation of blood clots. If a clot leaves the heart and travels to the brain, it can cause a stroke by blocking the flow of blood through cerebral arteries. Some people with AF have no symptoms, but others may experience a fluttering feeling in the area of the chest above the heart, chest pain, lightheadness or fainting, shortness of breath, and fatigue. AF is diagnosed by an electrocardiogram (ECG), a device that records the hearts electrical activity. Other tests are often performed to rule out contributing causes, such as high blood pressure, an overactive thyroid gland, heart failure, faulty heart valves, lung disease, and stimulant or alcohol abuse. Some people will have no identifiable cause for their AF.",Atrial Fibrillation and Stroke,0000034,NINDS,http://www.ninds.nih.gov/disorders/atrial_fibrillation_and_stroke/atrial_fibrillation_and_stroke.htm,C0038454,T046,Disorders What are the treatments for Atrial Fibrillation and Stroke ?,0000034-2,treatment,"Within a few hours after onset of a stroke, treatment with drugs or devices that dissolve or break up the clot can restore blood flow to the brain and lead to a better recovery. To prevent strokes related to AF, doctors often prescribe medications to prevent formation of clots in the heart, which can travel to the brain and cause stroke. Immediately after a stroke, doctors may temporarily administer heparin by injection, while starting an oral medication for long-term protection from clots. The most commonly used drug has been warfarin. People taking warfarin must be closely monitored to make sure their blood is thin enough to prevent clots, but not so thin as to promote bleeding. Since some foods, vitamin supplements, and medications can affect warfarin action, keeping the blood just thin enough can be tricky. More recently, a number of new blood thinners, including dabigatran, rivaroxaban, and apixaban, have been shown to be as effective as warfarin in stroke prevention. These newer medications do not require regular blood test monitoring and may have less tendency to cause bleeding due to making the blood too thin. Some individuals with AF may have a lower risk of stroke and may be treated with aspirin, either alone or with another antiplatelet agency like clopidogrel. Other treatments for AF include medications such as beta blockers or calcium channel blockers to slow the heartbeat, and anti-arrhythmic drugs or electrical cardioversion (which delivers an electrical shock to the heart) to normalize the heartbeat.",Atrial Fibrillation and Stroke,0000034,NINDS,http://www.ninds.nih.gov/disorders/atrial_fibrillation_and_stroke/atrial_fibrillation_and_stroke.htm,C0038454,T046,Disorders What is the outlook for Atrial Fibrillation and Stroke ?,0000034-3,outlook,"AF, which affects as many as 2.2 million Americans, increases an individuals risk of stroke by 4 to 6 times on average. The risk increases with age. In people over 80 years old, AF is the direct cause of 1 in 4 strokes. Treating individuals with warfarin or new blood thinners reduces the rate of stroke for those who have AF by approximately one-half to two- thirds. People with AF can have multiple strokes, including silent strokes (strokes that don't show physical symptoms but show up on a brain scan) that, over time, can cause dementia, so prevention is important.",Atrial Fibrillation and Stroke,0000034,NINDS,http://www.ninds.nih.gov/disorders/atrial_fibrillation_and_stroke/atrial_fibrillation_and_stroke.htm,C0038454,T046,Disorders what research (or clinical trials) is being done for Atrial Fibrillation and Stroke ?,0000034-4,research,"The National Institute of Neurological Disorders and Stroke (NINDS) is the leading Federal agency directing and funding research relevant to AF and stroke prevention. The NINDS conducts basic and clinical research in its laboratories and clinics at the National Institutes of Health (NIH), and also supports additional research through grants to major research institutions across the country. Much of this research focuses on finding better ways to prevent, treat, and ultimately cure disorders such as AF that can increase the risk of stroke.",Atrial Fibrillation and Stroke,0000034,NINDS,http://www.ninds.nih.gov/disorders/atrial_fibrillation_and_stroke/atrial_fibrillation_and_stroke.htm,C0038454,T046,Disorders What is (are) Autism ?,0000035-1,information,"Autistic disorder (sometimes called autism or classical ASD) is the most common condition in a group of developmental disorders known as the autism spectrum disorders (ASDs). Autistic children have difficulties with social interaction, display problems with verbal and nonverbal communication, and exhibit repetitive behaviors or narrow, obsessive interests. These behaviors can range in impact from mild to disabling. Autism varies widely in its severity and symptoms and may go unrecognized, especially in mildly affected children or when more debilitating handicaps mask it. Scientists arent certain what causes autism, but its likely that both genetics and environment play a role.",Autism,0000035,NINDS,http://www.ninds.nih.gov/disorders/autism/autism.htm,C0004352,T048,Disorders What are the treatments for Autism ?,0000035-2,treatment,"There is no cure for autism. Therapies and behavioral interventions are designed to remedy specific symptoms and can bring about substantial improvement. The ideal treatment plan coordinates therapies and interventions that meet the specific needs of individual children. Treatment options include educational/bahavioral interventions, medications, and other therapies. Most professionals agree that the earlier the intervention, the better.",Autism,0000035,NINDS,http://www.ninds.nih.gov/disorders/autism/autism.htm,C0004352,T048,Disorders What is the outlook for Autism ?,0000035-3,outlook,"For many children, autism symptoms improve with treatment and with age. Some children with autism grow up to lead normal or near-normal lives. Children whose language skills regress early in life, usually before the age of 3, appear to be at risk of developing epilepsy or seizure-like brain activity. During adolescence, some children with autism may become depressed or experience behavioral problems. Parents of these children should be ready to adjust treatment for their child as needed. People with an ASD usually continue to need services and support as they get older but many are able to work successfully and live independently or within a supportive environment.",Autism,0000035,NINDS,http://www.ninds.nih.gov/disorders/autism/autism.htm,C0004352,T048,Disorders what research (or clinical trials) is being done for Autism ?,0000035-4,research,"The National Institute of Neurological Disorders and Stroke (NINDS) conducts research in its laboratories at the National Institutes of Health (NIH) and also supports additional research through grants to major medical institutions across the country. As part of the Childrens Health Act of 2000, the NINDS and three sister institutes have formed the NIH Autism Coordinating Committee to expand, intensify, and coordinate NIHs autism research. As part of the Childrens Health Act of 2000, the NINDS and three sister institutes have formed the NIH Autism Coordinating Committee to expand, intensify, and coordinate NIHs autism research. Eight dedicated research centers across the country have been established as Centers of Excellence in Autism Research to bring together researchers and the resources they need. The Centers are conducting basic and clinical research, including investigations into causes, diagnosis, early detection, prevention, and treatment of autism.",Autism,0000035,NINDS,http://www.ninds.nih.gov/disorders/autism/autism.htm,C0004352,T048,Disorders What is (are) Dysautonomia ?,0000036-1,information,"Dysautonomia refers to a disorder of autonomic nervous system (ANS) function that generally involves failure of the sympathetic or parasympathetic components of the ANS, but dysautonomia involving excessive or overactive ANS actions also can occur. Dysautonomia can be local, as in reflex sympathetic dystrophy, or generalized, as in pure autonomic failure. It can be acute and reversible, as in Guillain-Barre syndrome, or chronic and progressive. Several common conditions such as diabetes and alcoholism can include dysautonomia. Dysautonomia also can occur as a primary condition or in association with degenerative neurological diseases such as Parkinson's disease. Other diseases with generalized, primary dysautonomia include multiple system atrophy and familial dysautonomia. Hallmarks of generalized dysautonomia due to sympathetic failure are impotence (in men) and a fall in blood pressure during standing (orthostatic hypotension). Excessive sympathetic activity can present as hypertension or a rapid pulse rate.",Dysautonomia,0000036,NINDS,http://www.ninds.nih.gov/disorders/dysautonomia/dysautonomia.htm,C0013363,T047,Disorders What are the treatments for Dysautonomia ?,0000036-2,treatment,"There is usually no cure for dysautonomia. Secondary forms may improve with treatment of the underlying disease. In many cases treatment of primary dysautonomia is symptomatic and supportive. Measures to combat orthostatic hypotension include elevation of the head of the bed, water bolus (rapid infusion of water given intravenously), a high-salt diet, and drugs such as fludrocortisone and midodrine.",Dysautonomia,0000036,NINDS,http://www.ninds.nih.gov/disorders/dysautonomia/dysautonomia.htm,C0013363,T047,Disorders What is the outlook for Dysautonomia ?,0000036-3,outlook,"The outlook for individuals with dysautonomia depends on the particular diagnostic category. People with chronic, progressive, generalized dysautonomia in the setting of central nervous system degeneration have a generally poor long-term prognosis. Death can occur from pneumonia, acute respiratory failure, or sudden cardiopulmonary arrest.",Dysautonomia,0000036,NINDS,http://www.ninds.nih.gov/disorders/dysautonomia/dysautonomia.htm,C0013363,T047,Disorders what research (or clinical trials) is being done for Dysautonomia ?,0000036-4,research,"The NINDS supports and conducts research on dysautonomia. This research aims to discover ways to diagnose, treat, and, ultimately, prevent these disorders.",Dysautonomia,0000036,NINDS,http://www.ninds.nih.gov/disorders/dysautonomia/dysautonomia.htm,C0013363,T047,Disorders What is (are) Back Pain ?,0000037-1,information,"Acute or short-term low back pain generally lasts from a few days to a few weeks. Most acute back pain is the result of trauma to the lower back or a disorder such as arthritis. Pain from trauma may be caused by a sports injury, work around the house or in the garden, or a sudden jolt such as a car accident or other stress on spinal bones and tissues. Symptoms may range from muscle ache to shooting or stabbing pain, limited flexibility and range of motion, or an inability to stand straight. Chronic back pain is pain that persists for more than 3 months. It is often progressive and the cause can be difficult to determine.",Back Pain,0000037,NINDS,http://www.ninds.nih.gov/disorders/backpain/backpain.htm,C1963071,T033,Disorders What are the treatments for Back Pain ?,0000037-2,treatment,"Most low back pain can be treated without surgery. Treatment involves using over-the-counter pain relievers to reduce discomfort and anti-inflammatory drugs to reduce inflammation. The goal of treatment is to restore proper function and strength to the back, and prevent recurrence of the injury. Medications are often used to treat acute and chronic low back pain. Effective pain relief may involve a combination of prescription drugs and over-the-counter remedies. Although the use of cold and hot compresses has never been scientifically proven to quickly resolve low back injury, compresses may help reduce pain and inflammation and allow greater mobility for some individuals. Bed rest is recommended for only 12 days at most. Individuals should resume activities as soon as possible. Exercise may be the most effective way to speed recovery from low back pain and help strengthen back and abdominal muscles. In the most serious cases, when the condition does not respond to other therapies, surgery may relieve pain caused by back problems or serious musculoskeletal injuries.",Back Pain,0000037,NINDS,http://www.ninds.nih.gov/disorders/backpain/backpain.htm,C1963071,T033,Disorders What is the outlook for Back Pain ?,0000037-3,outlook,"Most patients with back pain recover without residual functional loss, but individuals should contact a doctor if there is not a noticeable reduction in pain and inflammation after 72 hours of self-care. Recurring back pain resulting from improper body mechanics or other nontraumatic causes is often preventable. Engaging in exercises that don't jolt or strain the back, maintaining correct posture, and lifting objects properly can help prevent injuries. Many work-related injuries are caused or aggravated by stressors such as heavy lifting, vibration, repetitive motion, and awkward posture. Applying ergonomic principles designing furniture and tools to protect the body from injury at home and in the workplace can greatly reduce the risk of back injury and help maintain a healthy back.",Back Pain,0000037,NINDS,http://www.ninds.nih.gov/disorders/backpain/backpain.htm,C1963071,T033,Disorders what research (or clinical trials) is being done for Back Pain ?,0000037-4,research,"The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct pain research in laboratories at the NIH and also support pain research through grants to major medical institutions across the country. Currently, researchers are examining the use of different drugs to effectively treat back pain, in particular, chronic pain that has lasted at least 6 months. Other studies are comparing different health care approaches to the management of acute low back pain (standard care versus chiropractic, acupuncture, or massage therapy). These studies are measuring symptom relief, restoration of function, and patient satisfaction. Other research is comparing standard surgical treatments to the most commonly used standard nonsurgical treatments to measure changes in health-related quality of life among patients suffering from spinal stenosis.",Back Pain,0000037,NINDS,http://www.ninds.nih.gov/disorders/backpain/backpain.htm,C1963071,T033,Disorders What is (are) Barth Syndrome ?,0000038-1,information,"Barth syndrome (BTHS) is a rare, genetic disorder of lipid metabolism that primarily affects males. It is caused by a mutation in the tafazzin gene (TAZ, also called G4.5) which leads to decreased production of an enzyme required to produce cardiolipin. Cardiolipin is an essential lipid that is important in energy metabolism. BTHS, which affects multiple body systems, is considered serious. Its main characteristics often include combinations in varying degrees of heart muscle weakness (cardiomyopathy), neutropenia (low white blood cell cunt, which may lead to an increased risk for bacterial infections), reduced muscle tone (hypotonia), muscle weakness, undeveloped skeletal muscles, delayed growth, fatigue, varying degrees of physical disability, and methylglutaconic aciduria (an increase in an organic acid that results in abnormal mitochondria function). Although some with BTHS may have all of these characteristics, others may have only one or two and are often misdiagnosed. BTHS is an X-linked genetic condition passed from mother to son through the X chromosome. A mother who is a carrier of BTHS typically shows no signs or symptoms of the disorder herself. On average, 50 percent of children born to a carrier mother will inherit the defective gene, but only boys will develop symptoms. All daughters born to an affected male will be carriers but typically will not have symptoms.",Barth Syndrome,0000038,NINDS,http://www.ninds.nih.gov/disorders/barth/barth.htm,C0574083,T047,Disorders What are the treatments for Barth Syndrome ?,0000038-2,treatment,"There is no specific treatment for Barth syndrome. Bacterial infections caused by neutropenia can be effectively treated with antibiotics. The drug granulocyte colony stimulating factor, or GCSF, can stimulate white cell production by the bone marrow and help combat infection. Medicines may be prescribed to control heart problems. The dietary supplement carnitine has aided some children with Barth syndrome but in others it has caused increasing muscle weakness and even precipitated heart failure. Only careful dietary monitoring directed by a physician or nutritionist familiar with the disorder can ensure proper caloric and nutritional intake.",Barth Syndrome,0000038,NINDS,http://www.ninds.nih.gov/disorders/barth/barth.htm,C0574083,T047,Disorders What is the outlook for Barth Syndrome ?,0000038-3,outlook,"Early and accurate diagnosis is key to prolonged survival for boys born with Barth syndrome. The disorder was once considered uniformly fatal in infancy, but some individuals are now living much longer. Severe infections and cardiac failure are common causes of death in affected children.",Barth Syndrome,0000038,NINDS,http://www.ninds.nih.gov/disorders/barth/barth.htm,C0574083,T047,Disorders what research (or clinical trials) is being done for Barth Syndrome ?,0000038-4,research,"The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge of the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. The NINDS supports research on genetic disorders such as Barth syndrome, including basic research on mitochondrial dysfunction and investigations of other inborn errors of metabolism. Scientists have identified many of the genetic mutations that cause mitochondrial diseases and have created animal models which can be used to investigate potential treatments. Scientists hope to develop unique approaches to treating mitochondrial diseases through a better understanding of mitochondrial biology. Because people affected by mitochondrial disease often have a mixture of healthy and mutant mitochondria in their cells, effective therapy could involve getting the healthy mitochondria to take over for the diseased ones.",Barth Syndrome,0000038,NINDS,http://www.ninds.nih.gov/disorders/barth/barth.htm,C0574083,T047,Disorders What is (are) Batten Disease ?,0000039-1,information,"Batten disease is a fatal, inherited disorder of the nervous system that begins in childhood. In some cases, the early signs are subtle, taking the form of personality and behavior changes, slow learning, clumsiness, or stumbling. Symptoms of Batten disease are linked to a buildup of substances called lipopigments in the body's tissues. Lipopigments are made up of fats and proteins. Because vision loss is often an early sign, Batten disease may be first suspected during an eye exam. Often, an eye specialist or other physician may refer the child to a neurologist. Diagnostic tests for Batten disease include blood or urine tests, skin or tissue sampling, an electroencephalogram (EEG), electrical studies of the eyes, and brain scans.",Batten Disease,0000039,NINDS,http://www.ninds.nih.gov/disorders/batten/batten.htm,C0751383,T047,Disorders What are the treatments for Batten Disease ?,0000039-2,treatment,"As yet, no specific treatment is known that can halt or reverse the symptoms of Batten disease. However, seizures can sometimes be reduced or controlled with anticonvulsant drugs, and other medical problems can be treated appropriately as they arise. Physical therapy and occupational therapy may help patients retain functioning as long as possible.",Batten Disease,0000039,NINDS,http://www.ninds.nih.gov/disorders/batten/batten.htm,C0751383,T047,Disorders What is the outlook for Batten Disease ?,0000039-3,outlook,"Over time, affected children suffer cognitive impairment, worsening seizures, and progressive loss of sight and motor skills. Eventually, children with Batten disease become blind, bedridden, and demented. Batten disease is often fatal by the late teens or twenties.",Batten Disease,0000039,NINDS,http://www.ninds.nih.gov/disorders/batten/batten.htm,C0751383,T047,Disorders what research (or clinical trials) is being done for Batten Disease ?,0000039-4,research,"The biochemical defects that underlie several NCLs have recently been discovered. An enzyme called palmitoyl-protein thioesterase has been shown to be insufficiently active in the infantile form of Batten disease (this condition is now referred to as CLN1). In the late infantile form (CLN2), a deficiency of an acid protease, an enzyme that hydrolyzes proteins, has been found as the cause of this condition. A mutated gene has been identified in juvenile Batten disease (CLN3), but the protein for which this gene codes has not been identified. In addition, research scientists are working with NCL animal models to improve understanding and treatment of these disorders. One research team, for example, is testing the usefulness of bone marrow transplantation in a sheep model, while other investigators are working to develop mouse models. Mouse models will make it easier for scientists to study the genetics of these diseases.",Batten Disease,0000039,NINDS,http://www.ninds.nih.gov/disorders/batten/batten.htm,C0751383,T047,Disorders What is (are) Myotonia Congenita ?,0000040-1,information,"Myotonia congenita is an inherited neuromuscular disorder characterized by the inability of muscles to quickly relax after a voluntary contraction. The condition is present from early childhood, but symptoms can be mild. Most children will be 2 or 3 years old when parents first notice their muscle stiffness, particularly in the legs, often provoked by sudden activity after rest. The disease doesnt cause muscle wasting; in fact, it may cause muscle enlargement. Muscle strength is increased. There are two forms of the disorder: Becker-type, which is the most common form; and Thomsens disease, which is a rare and milder form. The disorder is cause by mutations in a gene responsible for shutting off electrical excitation in the muscles.",Myotonia Congenita,0000040,NINDS,http://www.ninds.nih.gov/disorders/myotoniacongenita/myotoniacongenita.htm,C2936781,T047,Disorders What are the treatments for Myotonia Congenita ?,0000040-2,treatment,"Most people with myotonia congenita dont require special treatments. Stiff muscles usually resolve with exercise, or light movement, especially after resting. For individuals whose symptoms are more limiting, doctors have had some success with medications such as quinine, or anticonvulsant drugs such as phenytoin. Physical therapy and other rehabilitative therapies are also sometimes used to improve muscle function.",Myotonia Congenita,0000040,NINDS,http://www.ninds.nih.gov/disorders/myotoniacongenita/myotoniacongenita.htm,C2936781,T047,Disorders What is the outlook for Myotonia Congenita ?,0000040-3,outlook,"Most individuals with myotonia congenita lead long, productive lives. Although muscle stiffness may interfere with walking, grasping, chewing, and swallowing, it is usually relieved with exercise.",Myotonia Congenita,0000040,NINDS,http://www.ninds.nih.gov/disorders/myotoniacongenita/myotoniacongenita.htm,C2936781,T047,Disorders what research (or clinical trials) is being done for Myotonia Congenita ?,0000040-4,research,"The National Institute of Neurological Disorders and Stroke (NINDS) conducts research related to myotonia congenita and also supports additional research through grants to major research institutions across the country. Current research is exploring how, at the molecular level, the defective gene in myotonia congenita causes the specific symptoms of the disorder. Additional research is focused on developing animal models of the disorder to test potential treatments and therapies.",Myotonia Congenita,0000040,NINDS,http://www.ninds.nih.gov/disorders/myotoniacongenita/myotoniacongenita.htm,C2936781,T047,Disorders What is (are) Behcet's Disease ?,0000041-1,information,"Behcet's disease is a rare, chronic inflammatory disorder. The cause of Behcet's disease is unknown, but current research suggests that both genetic and environmental factors play a role. Behcet's disease generally begins when individuals are in their 20s or 30s, although it can happen at any age. It tends to occur more often in men than in women. Symptoms of Behcet's disease include recurrent ulcers in the mouth (resembling canker sores) and on the genitals, and eye inflammation. The disorder may also cause various types of skin lesions, arthritis, bowel inflammation, meningitis (inflammation of the membranes of the brain and spinal cord), and cranial nerve palsies. Behcet's is a multi-system disease; it may involve all organs and affect the central nervous system, causing memory loss and impaired speech, balance, and movement. The effects of the disease may include blindness, stroke, swelling of the spinal cord, and intestinal complications. The disease is common in the Middle East, particularly in Turkey, and in Far Eastern nations such as Japan and Korean, but is less common in the United States.",Behcet's Disease,0000041,NINDS,http://www.ninds.nih.gov/disorders/behcet/behcet.htm,C0004943,T047,Disorders What are the treatments for Behcet's Disease ?,0000041-2,treatment,Treatment for Behcet's disease is symptomatic and supportive. Medication may be prescribed to reduce inflammation and/or regulate the immune system. Immunosuppressive therapy may be considered.,Behcet's Disease,0000041,NINDS,http://www.ninds.nih.gov/disorders/behcet/behcet.htm,C0004943,T047,Disorders What is the outlook for Behcet's Disease ?,0000041-3,outlook,Behcet's disease is a lifelong disorder that comes and goes. Permanent remission of symptoms has not been reported.,Behcet's Disease,0000041,NINDS,http://www.ninds.nih.gov/disorders/behcet/behcet.htm,C0004943,T047,Disorders what research (or clinical trials) is being done for Behcet's Disease ?,0000041-4,research,"The NINDS supports research on painful neurological disorders such as Behcet's disease. The National Human Genome Research Institute, another Institute of the National Institutes of Health, conducts research into the genomic basis of Behcet's disease. This research is aimed at discovering the causes of these disorders and finding ways to treat, prevent, and, ultimately, cure them.",Behcet's Disease,0000041,NINDS,http://www.ninds.nih.gov/disorders/behcet/behcet.htm,C0004943,T047,Disorders What is (are) Bell's Palsy ?,0000042-1,information,"Bell's palsy is a form of temporary facial paralysis resulting from damage or trauma to the 7th cranial nerve, one of the facial nerves. It is the most common cause of facial paralysis. Generally, Bell's palsy affects only one side of the face, however, in rare cases, it can affect both sides. Symptoms usually begin suddenly and reach their peak within 72 hours, and can range in severity from mild weakness to total paralysis. Symptoms vary among individuals and include sudden weakness on one side of the face, drooping eyelid or corner of the mouth, drooling, dry eye or mouth, altered taste, and excessive tearing in the eye. Bells palsy can cause significant facial distortion. The exact cause of Bell's palsy isn't known, but many scientists believe that reactivation of a dormant viral infection can cause the facial nerve to swell and becomes inflamed. Several other conditions can cause facial paralysis that might be diagnosed as Bell's palsy..",Bell's Palsy,0000042,NINDS,http://www.ninds.nih.gov/disorders/bells/bells.htm,C0376175,T047,Disorders What are the treatments for Bell's Palsy ?,0000042-2,treatment,"Steroids such as prednisone -- used to reduce inflammation and swelling -- are an effective treatment for Bell's palsy. Antiviral drugs may have some benefit in shortening the course of the disease. Analgesics such as aspirin, acetaminophen, or ibuprofen may relieve pain. Because of possible drug interactions, individuals should always talk to their doctors before taking any over-the-counter medicines. Keeping the eye moist and protecting it from debris and injury, especially at night, is important. Lubricating eye drops can help. Other therapies such as physical therapy, facial massage or acupuncture may provide a potential small improvement in facial nerve function and pain..",Bell's Palsy,0000042,NINDS,http://www.ninds.nih.gov/disorders/bells/bells.htm,C0376175,T047,Disorders What is the outlook for Bell's Palsy ?,0000042-3,outlook,"The prognosis for individuals with Bell's palsy is generally very good. The extent of nerve damage determines the extent of recovery. With or without treatment, most individuals begin to get better within 2 weeks after the initial onset of symptoms and recover some or all facial function within 3 to 6 months.",Bell's Palsy,0000042,NINDS,http://www.ninds.nih.gov/disorders/bells/bells.htm,C0376175,T047,Disorders what research (or clinical trials) is being done for Bell's Palsy ?,0000042-4,research,"The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge of the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. The NINDS conducts and supports an extensive research program of basic science to increase understanding of how the nervous system works and circumstances that lead to nerve damage. Knowledge gained from this research may help scientists find the definitive cause of Bell's palsy, leading to the discovery of new effective treatments for the disorder. Other NINDS-supported research is aimed at developing methods to repair damaged nerves and restore full use and strength to injured areas, and finding ways to prevent nerve damage and injuries from occurring.",Bell's Palsy,0000042,NINDS,http://www.ninds.nih.gov/disorders/bells/bells.htm,C0376175,T047,Disorders What is (are) Benign Essential Blepharospasm ?,0000043-1,information,"Benign essential blepharospasm (BEB) is a progressive neurological disorder characterized by involuntary muscle contractions and spasms of the eyelid muscles. It is a form of dystonia, a movement disorder in which muscle contractions cause sustained eyelid closure, twitching or repetitive movements. BEB begins gradually with increased frequency of eye blinking often associated with eye irritation. Other symptoms may include increasing difficulty in keeping the eyes open, and light sensitivity. Generally, the spasms occur during the day, disappear in sleep, and reappear after waking. As the condition progresses, the spasms may intensify, forcing the eyelids to remain closed for long periods of time, and thereby causing substantial visual disturbance or functional blindness. It is important to note that the blindness is caused solely by the uncontrollable closing of the eyelids and not by a dysfunction of the eyes. BEB occurs in both men and women, although it is especially common in middle-aged and elderly women.",Benign Essential Blepharospasm,0000043,NINDS,http://www.ninds.nih.gov/disorders/blepharospasm/blepharospasm.htm,C2930898,T047,Disorders What are the treatments for Benign Essential Blepharospasm ?,0000043-2,treatment,In most cases of BEB the treatment of choice is botulinum toxin injections which relax the muscles and stop the spasms. Other treatment options include medications (drug therapy) or surgery--either local surgery of the eye muscles or deep brain stimulation surgery.,Benign Essential Blepharospasm,0000043,NINDS,http://www.ninds.nih.gov/disorders/blepharospasm/blepharospasm.htm,C2930898,T047,Disorders What is the outlook for Benign Essential Blepharospasm ?,0000043-3,outlook,"With botulinum toxin treatment most individuals with BEB have substantial relief of symptoms. Although some may experience side effects such as drooping eyelids, blurred or double vision, and eye dryness, these side effects are usually only temporary. The condition may worsen or expand to surrounding muscles; remain the same for many years; and, in rare cases, improve spontaneously.",Benign Essential Blepharospasm,0000043,NINDS,http://www.ninds.nih.gov/disorders/blepharospasm/blepharospasm.htm,C2930898,T047,Disorders what research (or clinical trials) is being done for Benign Essential Blepharospasm ?,0000043-4,research,"The NINDS supports a broad program of research on disorders of the nervous system, including BEB. Much of this research is aimed at increasing understanding of these disorders and finding ways to prevent, treat, and cure them.",Benign Essential Blepharospasm,0000043,NINDS,http://www.ninds.nih.gov/disorders/blepharospasm/blepharospasm.htm,C2930898,T047,Disorders What is (are) Monomelic Amyotrophy ?,0000044-1,information,"Monomelic amyotrophy (MMA) is characterized by progressive degeneration and loss of motor neurons, the nerve cells in the brain and spinal cord that are responsible for controlling voluntary muscles. It is characterized by weakness and wasting in a single limb, usually an arm and hand rather than a foot and leg. There is no pain associated with MMA. While some physicians contend that mild sensory loss may be associated with this disease, many experts suggest that such symptoms actually indicate a cause other than MMA. MMA occurs in males between the ages of 15 and 25. Onset and progression are slow. MMA is seen most frequently in Asia, particularly in Japan and India; it is much less common in North America. In most cases, the cause is unknown, although there have been a few published reports linking MMA to traumatic or radiation injury. There are also familial forms of MMA. Diagnosis is made by physical exam and medical history. Electromyography (EMG), a special recording technique that detects electrical activity in muscles, shows a loss of the nerve supply, or denervation, in the affected limb; MRI and CT scans may show muscle atrophy. People believed to have MMA should be followed by a neuromuscular disease specialist for a number of months to make certain that no signs of other motor neuron diseases develop.",Monomelic Amyotrophy,0000044,NINDS,http://www.ninds.nih.gov/disorders/monomelic_amyotrophy/monomelic_amyotrophy.htm,C1865384,T047,Disorders What are the treatments for Monomelic Amyotrophy ?,0000044-2,treatment,There is no cure for MMA. Treatment consists of muscle strengthening exercises and training in hand coordination,Monomelic Amyotrophy,0000044,NINDS,http://www.ninds.nih.gov/disorders/monomelic_amyotrophy/monomelic_amyotrophy.htm,C1865384,T047,Disorders What is the outlook for Monomelic Amyotrophy ?,0000044-3,outlook,"The symptoms of MMA usually progress slowly for one to two years before reaching a plateau, and then remain stable for many years. Disability is generally slight. Rarely, the weakness progresses to the opposite limb. There is also a slowly progressive variant of MMA known as O'Sullivan-McLeod syndrome, which only affects the small muscles of the hand and forearm and has a slowly progressive course.",Monomelic Amyotrophy,0000044,NINDS,http://www.ninds.nih.gov/disorders/monomelic_amyotrophy/monomelic_amyotrophy.htm,C1865384,T047,Disorders what research (or clinical trials) is being done for Monomelic Amyotrophy ?,0000044-4,research,"The NINDS conducts and supports a broad range of research on motor neuron diseases. The goals of these studies are to increase understanding of these disorders and to find ways to treat, prevent, and ultimately cure them.",Monomelic Amyotrophy,0000044,NINDS,http://www.ninds.nih.gov/disorders/monomelic_amyotrophy/monomelic_amyotrophy.htm,C1865384,T047,Disorders What is (are) Pseudotumor Cerebri ?,0000045-1,information,"Pseudotumor cerebri literally means ""false brain tumor."" It is likely due to high pressure within the skull caused by the buildup or poor absorption of cerebrospinal fluid (CSF). The disorder is most common in women between the ages of 20 and 50. Symptoms of pseudotumor cerebri, which include headache, nausea, vomiting, and pulsating sounds within the head, closely mimic symptoms of large brain tumors.",Pseudotumor Cerebri,0000045,NINDS,http://www.ninds.nih.gov/disorders/pseudotumorcerebri/pseudotumorcerebri.htm,C0033845,T047,Disorders What are the treatments for Pseudotumor Cerebri ?,0000045-2,treatment,"Obesity, other treatable diseases, and some medications can cause raised intracranial pressure and symptoms of pseudotumor cerebri. A thorough medical history and physical examination is needed to evaluate these factors. If a diagnosis of pseudotumor cerebri is confirmed, close, repeated ophthalmologic exams are required to monitor any changes in vision. Drugs may be used to reduce fluid buildup and to relieve pressure. Weight loss through dieting or weight loss surgery and cessation of certain drugs (including oral contraceptives, tetracycline, and a variety of steroids) may lead to improvement. Surgery may be needed to remove pressure on the optic nerve. Therapeutic shunting, which involves surgically inserting a tube to drain CSF from the lower spine into the abdominal cavity, may be needed to remove excess CSF and relieve CSF pressure.",Pseudotumor Cerebri,0000045,NINDS,http://www.ninds.nih.gov/disorders/pseudotumorcerebri/pseudotumorcerebri.htm,C0033845,T047,Disorders What is the outlook for Pseudotumor Cerebri ?,0000045-3,outlook,"The disorder may cause progressive, permanent visual loss in some patients. In some cases, pseudotumor cerebri recurs.",Pseudotumor Cerebri,0000045,NINDS,http://www.ninds.nih.gov/disorders/pseudotumorcerebri/pseudotumorcerebri.htm,C0033845,T047,Disorders what research (or clinical trials) is being done for Pseudotumor Cerebri ?,0000045-4,research,"The NINDS conducts and supports research on disorders of the brain and nervous system, including pseudotumor cerebri. This research focuses primarily on increasing scientific understanding of these disorders and finding ways to prevent, treat, and cure them.",Pseudotumor Cerebri,0000045,NINDS,http://www.ninds.nih.gov/disorders/pseudotumorcerebri/pseudotumorcerebri.htm,C0033845,T047,Disorders What is (are) Meralgia Paresthetica ?,0000046-1,information,"Meralgia paresthetica is a disorder characterized by tingling, numbness, and burning pain in the outer side of the thigh. The disorder is caused by compression of the lateral femoral cutaneous nerve, a sensory nerve to the skin, as it exits the pelvis. People with the disorder often notice a patch of skin that is sensitive to touch and sometimes painful. Meralgia paresthetica should not be associated with weakness or radiating pain from the back.",Meralgia Paresthetica,0000046,NINDS,http://www.ninds.nih.gov/disorders/meralgia_paresthetica/meralgia_paresthetica.htm,C0152110,T047,Disorders What are the treatments for Meralgia Paresthetica ?,0000046-2,treatment,"Treatment for meralgia paresthetica is symptomatic and supportive. The majority of cases improve with conservative treatment by wearing looser clothing and losing weight. Medications used to treat neurogenic pain, such as anti-seizure or anti-depressant medications, may alleviate symptoms of pain. In a few cases, in which pain is persistent or severe, surgical intervention may be indicated.",Meralgia Paresthetica,0000046,NINDS,http://www.ninds.nih.gov/disorders/meralgia_paresthetica/meralgia_paresthetica.htm,C0152110,T047,Disorders What is the outlook for Meralgia Paresthetica ?,0000046-3,outlook,"Meralgia paresthetica usually has a good prognosis. In most cases, meralgia paresthetica will improve with conservative treatment or may even spontaneously resolve. Surgical intervention is not always fully successful.",Meralgia Paresthetica,0000046,NINDS,http://www.ninds.nih.gov/disorders/meralgia_paresthetica/meralgia_paresthetica.htm,C0152110,T047,Disorders what research (or clinical trials) is being done for Meralgia Paresthetica ?,0000046-4,research,"Within the NINDS research programs, meralgia paresthetica is addressed primarily through studies associated with pain research. NINDS vigorously pursues a research program seeking new treatments for pain and nerve damage with the ultimate goal of reversing these debilitating conditions.",Meralgia Paresthetica,0000046,NINDS,http://www.ninds.nih.gov/disorders/meralgia_paresthetica/meralgia_paresthetica.htm,C0152110,T047,Disorders What is (are) Binswanger's Disease ?,0000047-1,information,"Binswanger's disease (BD), also called subcortical vascular dementia, is a type of dementia caused by widespread, microscopic areas of damage to the deep layers of white matter in the brain. The damage is the result of the thickening and narrowing (atherosclerosis) of arteries that feed the subcortical areas of the brain. Atherosclerosis (commonly known as ""hardening of the arteries"") is a systemic process that affects blood vessels throughout the body. It begins late in the fourth decade of life and increases in severity with age. As the arteries become more and more narrowed, the blood supplied by those arteries decreases and brain tissue dies. A characteristic pattern of BD-damaged brain tissue can be seen with modern brain imaging techniques such as CT scans or magnetic resonance imaging (MRI). The symptoms associated with BD are related to the disruption of subcortical neural circuits that control what neuroscientists call executive cognitive functioning: short-term memory, organization, mood, the regulation of attention, the ability to act or make decisions, and appropriate behavior. The most characteristic feature of BD is psychomotor slowness - an increase in the length of time it takes, for example, for the fingers to turn the thought of a letter into the shape of a letter on a piece of paper. Other symptoms include forgetfulness (but not as severe as the forgetfulness of Alzheimer's disease), changes in speech, an unsteady gait, clumsiness or frequent falls, changes in personality or mood (most likely in the form of apathy, irritability, and depression), and urinary symptoms that aren't caused by urological disease. Brain imaging, which reveals the characteristic brain lesions of BD, is essential for a positive diagnosis.",Binswanger's Disease,0000047,NINDS,http://www.ninds.nih.gov/disorders/binswangers/binswangers.htm,C0270786,T047,Disorders What are the treatments for Binswanger's Disease ?,0000047-2,treatment,"There is no specific course of treatment for BD. Treatment is symptomatic. People with depression or anxiety may require antidepressant medications such as the serotonin-specific reuptake inhibitors (SSRI) sertraline or citalopram. Atypical antipsychotic drugs, such as risperidone and olanzapine, can be useful in individuals with agitation and disruptive behavior. Recent drug trials with the drug memantine have shown improved cognition and stabilization of global functioning and behavior. The successful management of hypertension and diabetes can slow the progression of atherosclerosis, and subsequently slow the progress of BD. Because there is no cure, the best treatment is preventive, early in the adult years, by controlling risk factors such as hypertension, diabetes, and smoking.",Binswanger's Disease,0000047,NINDS,http://www.ninds.nih.gov/disorders/binswangers/binswangers.htm,C0270786,T047,Disorders What is the outlook for Binswanger's Disease ?,0000047-3,outlook,"BD is a progressive disease; there is no cure. Changes may be sudden or gradual and then progress in a stepwise manner. BD can often coexist with Alzheimer's disease. Behaviors that slow the progression of high blood pressure, diabetes, and atherosclerosis -- such as eating a healthy diet and keeping healthy wake/sleep schedules, exercising, and not smoking or drinking too much alcohol -- can also slow the progression of BD.",Binswanger's Disease,0000047,NINDS,http://www.ninds.nih.gov/disorders/binswangers/binswangers.htm,C0270786,T047,Disorders what research (or clinical trials) is being done for Binswanger's Disease ?,0000047-4,research,"The National Institute of Neurological Disorders and Stroke (NINDS) conducts research related to BD in its laboratories at the National Institutes of Health (NIH), and also supports additional research through grants to major medical institutions across the country. Much of this research focuses on finding better ways to prevent, treat, and ultimately cure neurological disorders, such as BD.",Binswanger's Disease,0000047,NINDS,http://www.ninds.nih.gov/disorders/binswangers/binswangers.htm,C0270786,T047,Disorders What is (are) Incontinentia Pigmenti ?,0000048-1,information,"Incontinentia pigmenti (IP) is an inherited disorder of skin pigmentation that is also associated with abnormalities of the teeth, skeletal system, eyes, and central nervous system. It is one of a group of gene-linked diseases known as neurocutaneous disorders. In most cases, IP is caused by mutations in a gene called NEMO (NF-kappaB essential modulator). Males are more severely affected than females. Discolored skin is caused by excessive deposits of melanin (normal skin pigment). Most newborns with IP will develop discolored skin within the first two weeks. The pigmentation involves the trunk and extremities, is slate-grey, blue or brown, and is distributed in irregular marbled or wavy lines. The discoloration fades with age. Neurological problems include loss of brain tissue (known as cerebral atrophy), the formation of small cavities in the central white matter of the brain, and the loss of neurons in the cerebellar cortex. About 20% of children with IP will have slow motor development, muscle weakness in one or both sides of the body, impaired cognitive development, and seizures. They are also likely to have visual problems, including crossed eyes, cataracts, and severe visual loss. Dental problems are also common, including missing or peg-shaped teeth. A related disorder, incontinentia pigmenti achromians, features skin patterns of light, unpigmented swirls and streaks that are the reverse of IP. Associated neurological problems are similar.",Incontinentia Pigmenti,0000048,NINDS,http://www.ninds.nih.gov/disorders/incontinentia_pigmenti/incontinentia_pigmenti.htm,C2930820,T019,Disorders What are the treatments for Incontinentia Pigmenti ?,0000048-2,treatment,"The skin abnormalities of IP usually disappear by adolescence or adulthood without treatment. Diminished vision may be treated with corrective lenses, medication, or, in severe cases, surgery. A specialist may treat dental problems. Neurological symptoms such as seizures, muscle spasms, or mild paralysis may be controlled with medication and/or medical devices and with the advice of a neurologist.",Incontinentia Pigmenti,0000048,NINDS,http://www.ninds.nih.gov/disorders/incontinentia_pigmenti/incontinentia_pigmenti.htm,C2930820,T019,Disorders What is the outlook for Incontinentia Pigmenti ?,0000048-3,outlook,"Although the skin abnormalities usually regress, and sometimes disappear completely, there may be residual neurological difficulties.",Incontinentia Pigmenti,0000048,NINDS,http://www.ninds.nih.gov/disorders/incontinentia_pigmenti/incontinentia_pigmenti.htm,C2930820,T019,Disorders what research (or clinical trials) is being done for Incontinentia Pigmenti ?,0000048-4,research,"Researchers have begun to use genetic linkage studies to map the location of genes associated with the neurocutaneous disorders. Research supported by the NINDS includes studies to understand how the brain and nervous system normally develop and function and how they are affected by genetic mutations. These studies contribute to a greater understanding of gene-linked disorders such as IP, and have the potential to open promising new avenues of treatment.",Incontinentia Pigmenti,0000048,NINDS,http://www.ninds.nih.gov/disorders/incontinentia_pigmenti/incontinentia_pigmenti.htm,C2930820,T019,Disorders What is (are) Erb-Duchenne and Dejerine-Klumpke Palsies ?,0000049-1,information,"The brachial plexus is a network of nerves that conducts signals from the spine to the shoulder, arm, and hand. Brachial plexus injuries are caused by damage to those nerves. Erb-Duchenne (Erb's) palsy refers to paralysis of the upper brachial plexus. Dejerine-Klumpke (Klumpke's) palsy refers to paralysis of the lower brachial plexus. Although injuries can occur at any time, many brachial plexus injuries happen when a baby's shoulders become impacted during delivery and the brachial plexus nerves stretch or tear. There are four types of brachial plexus injuries: avulsion, the most severe type, in which the nerve is torn from the spine; rupture, in which the nerve is torn but not at the spinal attachment; neuroma, in which the nerve has torn and healed but scar tissue puts pressure on the injured nerve and prevents it from conducting signals to the muscles; and neuropraxia or stretch, in which the nerve has been damaged but not torn. Neuropraxia is the most common type of brachial plexus injury. Symptoms of brachial plexus injury may include a limp or paralyzed arm; lack of muscle control in the arm, hand, or wrist; and lack of feeling or sensation in the arm or hand.",Erb-Duchenne and Dejerine-Klumpke Palsies,0000049,NINDS,http://www.ninds.nih.gov/disorders/brachial_plexus_birth/brachial_plexus_birth.htm,C0270898,T047,Disorders What are the treatments for Erb-Duchenne and Dejerine-Klumpke Palsies ?,0000049-2,treatment,"Some brachial plexus injuries may heal without treatment. Many children who are injured during birth improve or recover by 3 to 4 months of age. Treatment for brachial plexus injuries includes physical therapy and, in some cases, surgery.",Erb-Duchenne and Dejerine-Klumpke Palsies,0000049,NINDS,http://www.ninds.nih.gov/disorders/brachial_plexus_birth/brachial_plexus_birth.htm,C0270898,T047,Disorders What is the outlook for Erb-Duchenne and Dejerine-Klumpke Palsies ?,0000049-3,outlook,"The site and type of brachial plexus injury determines the prognosis. For avulsion and rupture injuries, there is no potential for recovery unless surgical reconnection is made in a timely manner. The potential for recovery varies for neuroma and neuropraxia injuries. Most individuals with neuropraxia injuries recover spontaneously with a 90-100 percent return of function.",Erb-Duchenne and Dejerine-Klumpke Palsies,0000049,NINDS,http://www.ninds.nih.gov/disorders/brachial_plexus_birth/brachial_plexus_birth.htm,C0270898,T047,Disorders what research (or clinical trials) is being done for Erb-Duchenne and Dejerine-Klumpke Palsies ?,0000049-4,research,The NINDS conducts and supports research on injuries to the nervous system such as brachial plexus injuries. Much of this research is aimed at finding ways to prevent and treat these disorders.,Erb-Duchenne and Dejerine-Klumpke Palsies,0000049,NINDS,http://www.ninds.nih.gov/disorders/brachial_plexus_birth/brachial_plexus_birth.htm,C0270898,T047,Disorders What is (are) Brachial Plexus Injuries ?,0000050-1,information,"The brachial plexus is a network of nerves that conducts signals from the spine to the shoulder, arm, and hand. Brachial plexus injuries are caused by damage to those nerves. Symptoms may include a limp or paralyzed arm; lack of muscle control in the arm, hand, or wrist; and a lack of feeling or sensation in the arm or hand. Brachial plexus injuries can occur as a result of shoulder trauma, tumors, or inflammation. There is a rare syndrome called Parsonage-Turner Syndrome, or brachial plexitis, which causes inflammation of the brachial plexus without any obvious shoulder injury. This syndrome can begin with severe shoulder or arm pain followed by weakness and numbness. In infants, brachial plexus injuries may happen during birth if the babys shoulder is stretched during passage in the birth canal (see Brachial Plexus Birth Injuries). The severity of a brachial plexus injury is determined by the type of damage done to the nerves. The most severe type, avulsion, is caused when the nerve root is severed or cut from the spinal cord. There is also an incomplete form of avulsion in which part of the nerve is damaged and which leaves some opportunity for the nerve to slowly recover function. Neuropraxia, or stretch injury, is the mildest type of injury Neuropraxia damages the protective covering of the nerve, which causes problems with nerve signal conduction, but does not always damage the nerve underneath.",Brachial Plexus Injuries,0000050,NINDS,http://www.ninds.nih.gov/disorders/brachial_plexus/brachial_plexus.htm,C0161446,T037,Disorders What are the treatments for Brachial Plexus Injuries ?,0000050-2,treatment,"Some brachial plexus injuries may heal without treatment. Many children who are injured during birth improve or recover by 3 to 4 months of age. Treatment for brachial plexus injuries includes physical therapy and, in some cases, surgery.",Brachial Plexus Injuries,0000050,NINDS,http://www.ninds.nih.gov/disorders/brachial_plexus/brachial_plexus.htm,C0161446,T037,Disorders What is the outlook for Brachial Plexus Injuries ?,0000050-3,outlook,"The site and type of brachial plexus injury determines the prognosis. For avulsion and rupture injuries, there is no potential for recovery unless surgical reconnection is made in a timely manner. The potential for recovery varies for neuroma and neuropraxia injuries. Most individuals with neuropraxia injuries recover spontaneously with a 90-100% return of function.",Brachial Plexus Injuries,0000050,NINDS,http://www.ninds.nih.gov/disorders/brachial_plexus/brachial_plexus.htm,C0161446,T037,Disorders what research (or clinical trials) is being done for Brachial Plexus Injuries ?,0000050-4,research,The NINDS conducts and supports research on injuries to the nervous system such as brachial plexus injuries. Much of this research is aimed at finding ways to prevent and treat these disorders.,Brachial Plexus Injuries,0000050,NINDS,http://www.ninds.nih.gov/disorders/brachial_plexus/brachial_plexus.htm,C0161446,T037,Disorders What is (are) Orthostatic Hypotension ?,0000051-1,information,"Orthostatic hypotension is a sudden fall in blood pressure that occurs when a person assumes a standing position. It is due to a lesion of the baroreflex loop, which senses a change in blood pressure and adjusts heart rate and activates sympathetic nerve system fibers to cause the blood vessels to narrow and correct blood pressure. It may also be caused by hypovolemia (a decreased amount of blood in the body), resulting from the excessive use of diuretics, vasodilators, or other types of drugs, dehydration, or prolonged bed rest. The disorder may be associated with Addison's disease, diabetes, and certain neurological disorders including Multiple System Atrophy with Orthostatic Hypotension (formerly known as Shy-Drager syndrome), autonomic system neuropathies, and other dysautonomias. Symptoms, which generally occur after sudden standing, include dizziness, lightheadedness, blurred vision, and syncope (temporary loss of consciousness).",Orthostatic Hypotension,0000051,NINDS,http://www.ninds.nih.gov/disorders/orthostatic_hypotension/orthostatic_hypotension.htm,C0020651,T033,Disorders What are the treatments for Orthostatic Hypotension ?,0000051-2,treatment,"When orthostatic hypotension is caused by hypovolemia due to medications, the disorder may be reversed by adjusting the dosage or by discontinuing the medication. When the condition is caused by prolonged bed rest, improvement may occur by sitting up with increasing frequency each day. In some cases, physical counterpressure such as elastic hose or whole-body inflatable suits may be required. Dehydration is treated with salt and fluids. More severe cases can be treated with drugs, such as midodrine, to raise blood pressure.",Orthostatic Hypotension,0000051,NINDS,http://www.ninds.nih.gov/disorders/orthostatic_hypotension/orthostatic_hypotension.htm,C0020651,T033,Disorders What is the outlook for Orthostatic Hypotension ?,0000051-3,outlook,The prognosis for individuals with orthostatic hypotension depends on the underlying cause of the condition.,Orthostatic Hypotension,0000051,NINDS,http://www.ninds.nih.gov/disorders/orthostatic_hypotension/orthostatic_hypotension.htm,C0020651,T033,Disorders what research (or clinical trials) is being done for Orthostatic Hypotension ?,0000051-4,research,The NINDS supports research on conditions such as neurogenic orthostatic hypotension aimed at increasing scientific understanding of the condition and finding ways to treat and prevent it.,Orthostatic Hypotension,0000051,NINDS,http://www.ninds.nih.gov/disorders/orthostatic_hypotension/orthostatic_hypotension.htm,C0020651,T033,Disorders What is (are) Brain and Spinal Tumors ?,0000052-1,information,"Tumors of the brain and spinal cord are abnormal growths of tissue found inside the skull or the bony spinal column. The brain and spinal cord are the primary components of the central nervous system (CNS). Benign tumors are noncancerous, and malignant tumors are cancerous. The CNS is housed within rigid, bony quarters (i.e., the skull and spinal column), so any abnormal growth, whether benign or malignant, can place pressure on sensitive tissues and impair function. Tumors that originate in the brain or spinal cord are called primary tumors. Most primary tumors are caused by out-of-control growth among cells that surround and support neuron, specific genetic disease (such as neurofibromatosis type 1 and tuberous sclerosis), or from exposure to radiation or cancer-causing chemicals. Metastatic, or secondary, tumors in the CNS are caused by cancer cells that break away from a primary tumor located in another region of the body. Tumors can place pressure on sensitive tissues and impair function..Symptoms of brain tumors include headaches, seizures, nausea and vomiting, poor vision or hearing, changes in behavior, unclear thinking, and unsteadiness. Spinal cord tumor symptoms include pain, numbness, and paralysis. Diagnosis is made after a neurological examination, special imaging techniques (computed tomography, and magnetic resonance imaging, positron emission tomography), laboratory tests, and a biopsy (in which a sample of tissue is taken from a suspected tumor and examined).",Brain and Spinal Tumors,0000052,NINDS,http://www.ninds.nih.gov/disorders/brainandspinaltumors/brainandspinaltumors.htm,C0037930,T191,Disorders What are the treatments for Brain and Spinal Tumors ?,0000052-2,treatment,"The three most commonly used treatments are surgery, radiation, and chemotherapy. Doctors also may prescribe steroids to reduce the tumor-related swelling inside the CNS.",Brain and Spinal Tumors,0000052,NINDS,http://www.ninds.nih.gov/disorders/brainandspinaltumors/brainandspinaltumors.htm,C0037930,T191,Disorders What is the outlook for Brain and Spinal Tumors ?,0000052-3,outlook,"Symptoms of brain and spinal cord tumors generally develop slowly and worsen over time unless they are treated. The tumor may be classified as benign or malignant and given a numbered score that reflects its rate of malignancy. This score can help doctors determine how to treat the tumor and predict the likely outcome, or prognosis, for the individual.",Brain and Spinal Tumors,0000052,NINDS,http://www.ninds.nih.gov/disorders/brainandspinaltumors/brainandspinaltumors.htm,C0037930,T191,Disorders what research (or clinical trials) is being done for Brain and Spinal Tumors ?,0000052-4,research,"Scientists continue to investigate ways to better understand, diagnose, and treat CNS tumors. Experimental treatment options may include new drugs, gene therapy, surgery , radiation, biologic modulators that enhance the body's overall immune system to recognize and fight cancer cells, and a combination of therapies. Of particular interest to scientists is the development of tailored therapeutics--involving a combination of targeted agents that use different molecules to reduce tumor gene activity and suppress uncontrolled growth by killing or reducing the production of tumor cells--to treat tumors based on their genetic makeup. Researchers continue to search for additional clinical biomarkers (molecules or other substances in the blood or tissue that can be used to diagnose or monitor a particular disorder) of CNS tumors. Other researchers are testing different drugs and molecules to see if they can modulate the normal activity of the blood-brain barrier and better target tumor cells and associated blood vessels. Also under investigation are ways to improve drug delivery to the tumor and to prevent the side-effects of cancer treatments.",Brain and Spinal Tumors,0000052,NINDS,http://www.ninds.nih.gov/disorders/brainandspinaltumors/brainandspinaltumors.htm,C0037930,T191,Disorders What is (are) Traumatic Brain Injury ?,0000053-1,information,"Traumatic brain injury (TBI), a form ofacquired brain injury, occurs when a sudden trauma causes damage to the brain. TBI can result when the head suddenly and violently hits an object, or when an object pierces the skull and enters brain tissue.Symptoms of a TBI can be mild, moderate, or severe, depending on the extent of the damage to the brain. A person with a mild TBI may remain conscious or may experience a loss of consciousness for a few seconds or minutes. Other symptoms of mild TBI include headache, confusion, lightheadedness, dizziness, blurred vision or tired eyes, ringing in the ears, bad taste in the mouth, fatigue or lethargy, a change in sleep patterns, behavioral or mood changes, and trouble with memory, concentration, attention, or thinking. A person with a moderate or severe TBI may show these same symptoms, but may also have a headache that gets worse or does not go away, repeated vomiting or nausea, convulsions or seizures, an inability to awaken from sleep, dilation of one or both pupils of the eyes, slurred speech, weakness or numbness in the extremities, loss of coordination, and increased confusion, restlessness, or agitation.",Traumatic Brain Injury,0000053,NINDS,http://www.ninds.nih.gov/disorders/tbi/tbi.htm,C0876926,T037,Disorders What are the treatments for Traumatic Brain Injury ?,0000053-2,treatment,"Anyone with signs of moderate or severe TBI should receive medical attention as soon as possible. Because little can be done to reverse the initial brain damage caused by trauma, medical personnel try to stabilize an individual with TBI and focus on preventing further injury. Primary concerns include insuring proper oxygen supply to the brain and the rest of the body, maintaining adequate blood flow, and controlling blood pressure. Imaging tests help in determining the diagnosis and prognosis of a TBI patient. Patients with mild to moderate injuries may receive skull and neck X-rays to check for bone fractures or spinal instability. For moderate to severe cases, the imaging test is a computed tomography (CT) scan. Moderately to severely injured patients receive rehabilitation that involves individually tailored treatment programs in the areas of physical therapy, occupational therapy, speech/language therapy, physiatry (physical medicine), psychology/psychiatry, and social support.",Traumatic Brain Injury,0000053,NINDS,http://www.ninds.nih.gov/disorders/tbi/tbi.htm,C0876926,T037,Disorders What is the outlook for Traumatic Brain Injury ?,0000053-3,outlook,"Approximately half of severely head-injured patients will need surgery to remove or repair hematomas (ruptured blood vessels) or contusions (bruised brain tissue). Disabilities resulting from a TBI depend upon the severity of the injury, the location of the injury, and the age and general health of the individual. Some common disabilities include problems with cognition (thinking, memory, and reasoning), sensory processing (sight, hearing, touch, taste, and smell), communication (expression and understanding), and behavior or mental health (depression, anxiety, personality changes, aggression, acting out, and social inappropriateness). More serious head injuries may result in stupor, an unresponsive state, but one in which an individual can be aroused briefly by a strong stimulus, such as sharp pain; coma, a state in which an individual is totally unconscious, unresponsive, unaware, and unarousable; vegetative state, in which an individual is unconscious and unaware of his or her surroundings, but continues to have a sleep-wake cycle and periods of alertness; and a persistent vegetative state (PVS), in which an individual stays in a vegetative state for more than a month.",Traumatic Brain Injury,0000053,NINDS,http://www.ninds.nih.gov/disorders/tbi/tbi.htm,C0876926,T037,Disorders what research (or clinical trials) is being done for Traumatic Brain Injury ?,0000053-4,research,"The National Institute of Neurological Disorders and Stroke (NINDS) supports TBI research through grants to major medical institutions across the country and conducts TBI research in its intramural laboratories and Clinical Center at the National Institutes of Health (NIH) in Bethesda,Maryland. The Center for Neuroscience and Regenerative Medicine (CNRM) is a TBI research collaboration between intramural NIH and the Uniformed Services University for the Health Sciences (USUHS). NINDS-funded research involves studies in the laboratory and in clinical settings to better understand TBI and the biological mechanisms underlying damage to the brain. This research will allow scientists to develop strategies and interventions to limit the primary and secondary brain damage that occurs within days of a head trauma, and to devise therapies to treat brain injury and improve long-term recovery of function. More information about Traumatic Brain Injury (TBI) Research is available at: http://www.ninds.nih.gov/research/tbi/index.htm More information about CNRM clinical studies is available at: http://cnrmstudies.org/",Traumatic Brain Injury,0000053,NINDS,http://www.ninds.nih.gov/disorders/tbi/tbi.htm,C0876926,T037,Disorders What is (are) Brown-Sequard Syndrome ?,0000054-1,information,"Brown-Sequard syndrome (BSS) is a rare neurological condition characterized by a lesion in the spinal cord which results in weakness or paralysis (hemiparaplegia) on one side of the body and a loss of sensation (hemianesthesia) on the opposite side. BSS may be caused by a spinal cord tumor, trauma (such as a puncture wound to the neck or back), ischemia (obstruction of a blood vessel), or infectious or inflammatory diseases such as tuberculosis, or multiple sclerosis.",Brown-Sequard Syndrome,0000054,NINDS,http://www.ninds.nih.gov/disorders/brown_sequard/brown-sequard.htm,C0242644,T047,Disorders What are the treatments for Brown-Sequard Syndrome ?,0000054-2,treatment,Generally treatment for individuals with BSS focuses on the underlying cause of the disorder. Early treatment with high-dose steroids may be beneficial in many cases. Other treatment is symptomatic and supportive.,Brown-Sequard Syndrome,0000054,NINDS,http://www.ninds.nih.gov/disorders/brown_sequard/brown-sequard.htm,C0242644,T047,Disorders What is the outlook for Brown-Sequard Syndrome ?,0000054-3,outlook,The prognosis for individuals with BSS varies depending on the cause of the disorder.,Brown-Sequard Syndrome,0000054,NINDS,http://www.ninds.nih.gov/disorders/brown_sequard/brown-sequard.htm,C0242644,T047,Disorders what research (or clinical trials) is being done for Brown-Sequard Syndrome ?,0000054-4,research,"The NINDS supports and conducts a wide range of research on spinal cord disorders such as BSS. The goal of this research is to find ways to prevent, treat, and, ultimately, cure these disorders.",Brown-Sequard Syndrome,0000054,NINDS,http://www.ninds.nih.gov/disorders/brown_sequard/brown-sequard.htm,C0242644,T047,Disorders What is (are) Kennedy's Disease ?,0000055-1,information,"Kennedy's disease is an inherited motor neuron disease that affects males. It is one of a group of disorders called lower motor neuron disorders (which involve disruptions in the transmission of nerve cell signals in the brain to nerve cells in the brain stem and spinal cord). Onset of the disease is usually between the ages of 20 and 40, although it has been diagnosed in men from their teens to their 70s. Early symptoms include tremor of the outstretched hands, muscle cramps with exertion, and fasciculations (fleeting muscle twitches visible under the skin). Eventually, individuals develop limb weakness which usually begins in the pelvic or shoulder regions. Weakness of the facial and tongue muscles may occur later in the course of the disease and often leads to dysphagia (difficulty in swallowing), dysarthria (slurring of speech), and recurrent aspiration pneumonia. Some individuals develop gynecomastia (excessive enlargement of male breasts) and low sperm count or infertility. Still others develop non-insulin-dependent diabetes mellitus. Kennedy's disease is an x-linked recessive disease, which means the patient's mother carries the defective gene on one of her X chromosomes. Daughters of patients with Kennedy's disease are also carriers and have a 1 in 2 chance of having a son affected with the disease. Parents with concerns about their children may wish to talk to a genetic counselor.",Kennedy's Disease,0000055,NINDS,http://www.ninds.nih.gov/disorders/kennedys/kennedys.htm,C1839259,T047,Disorders What are the treatments for Kennedy's Disease ?,0000055-2,treatment,Currently there is no known cure for Kennedy's disease. Treatment is symptomatic and supportive. Physical therapy and rehabilitation to slow muscle weakness and atrophy may prove helpful.,Kennedy's Disease,0000055,NINDS,http://www.ninds.nih.gov/disorders/kennedys/kennedys.htm,C1839259,T047,Disorders What is the outlook for Kennedy's Disease ?,0000055-3,outlook,"Kennedy's disease is slowly progressive. Individuals tend to remain ambulatory until late in the disease, although some may be wheelchair-bound during later stages. The life span of individuals with Kennedy's disease is usually normal.",Kennedy's Disease,0000055,NINDS,http://www.ninds.nih.gov/disorders/kennedys/kennedys.htm,C1839259,T047,Disorders what research (or clinical trials) is being done for Kennedy's Disease ?,0000055-4,research,"The NINDS supports a broad spectrum of research on motor neuron diseases, such as Kennedy's disease. Much of this research is aimed at increasing scientific understanding of these diseases and, ultimately, finding ways to prevent, treat, and cure them.",Kennedy's Disease,0000055,NINDS,http://www.ninds.nih.gov/disorders/kennedys/kennedys.htm,C1839259,T047,Disorders What is (are) CADASIL ?,0000056-1,information,"CADASIL (Cerebral Autosomal Dominant Arteriopathy with Sub-cortical Infarcts and Leukoencephalopathy) is an inherited form of cerebrovascular disease that occurs when the thickening of blood vessel walls blocks the flow of blood to the brain. The disease primarily affects small blood vessels in the white matter of the brain. A mutation in the Notch3 gene alters the muscular walls in these small arteries. CADASIL is characterized by migraine headaches and multiple strokes progressing to dementia. Other symptoms include cognitive deterioration, seizures, vision problems, and psychiatric problems such as severe depression and changes in behavior and personality. Individuals may also be at higher risk of heart attack. Symptoms and disease onset vary widely, with signs typically appearing in the mid-30s. Some individuals may not show signs of the disease until later in life. CADASIL formerly known by several names, including hereditary multi-infarct dementia is one cause of vascular cognitive impairment (dementia caused by lack of blood to several areas of the brain). It is an autosomal dominant inheritance disorder, meaning that one parent carries and passes on the defective gene. Most individuals with CADASIL have a family history of the disorder. However, because the genetic test for CADASIL was not available before 2000, many cases were misdiagnosed as multiple sclerosis, Alzheimer's disease, or other neurodegenerative diseases.",CADASIL,0000056,NINDS,http://www.ninds.nih.gov/disorders/cadasil/CADASIL.htm,C0751587,T047,Disorders What are the treatments for CADASIL ?,0000056-2,treatment,"There is no treatment to halt this genetic disorder. Individuals are given supportive care. Migraine headaches may be treated by different drugs and a daily aspirin may reduce stroke and heart attack risk. Drug therapy for depression may be given. Affected individuals who smoke should quit as it can increase the risk of stroke in CADASIL. Other stroke risk factors such as hypertension, hyperlipidemia, diabetes, blood clotting disorders and obstructive sleep apnea also should be aggressively treated..",CADASIL,0000056,NINDS,http://www.ninds.nih.gov/disorders/cadasil/CADASIL.htm,C0751587,T047,Disorders What is the outlook for CADASIL ?,0000056-3,outlook,"Symptoms usually progress slowly. By age 65, the majority of persons with CADASIL have cognitive problems and dementia. Some will become dependent due to multiple strokes.",CADASIL,0000056,NINDS,http://www.ninds.nih.gov/disorders/cadasil/CADASIL.htm,C0751587,T047,Disorders what research (or clinical trials) is being done for CADASIL ?,0000056-4,research,The National Institute of Neurological Disorders and Stroke (NINDS) conducts stroke research and clinical trials at its laboratories and clinics at the National Institutes of Health (NIH) and through grants to major medical institutions across the country. Scientists are currently studying different drugs to reduce cognitive problems seen in patients with CADASIL. Researchers are also looking at ways to overcome an over-reaction to hormones that lead to high blood pressure and poor blood supply in patients with CADASIL.,CADASIL,0000056,NINDS,http://www.ninds.nih.gov/disorders/cadasil/CADASIL.htm,C0751587,T047,Disorders What is (are) Canavan Disease ?,0000057-1,information,"Canavan disease is a gene-linked neurological disorder in which the brain degenerates into spongy tissue riddled with microscopic fluid-filled spaces. Canavan disease has been classified as one of a group of genetic disorders known as the leukodystrophies. Recent research has indicated that the cells in the brain responsible for making myelin sheaths, known as oligodendrocytes, cannot properly complete this critical developmental task. Myelin sheaths are the fatty covering that act as insulators around nerve fibers in the brain, as well as providing nutritional support for nerve cells. In Canavan disease, many oligodendrocytes do not mature and instead die, leaving nerve cell projections known as axons vulnerable and unable to properly function. Canavan disease is caused by mutation in the gene for an enzyme called aspartoacylase, which acts to break down the concentrated brain chemical known as N-acetyl-aspartate. Symptoms of Canavan disease usually appear in the first 3 to 6 months of life and progress rapidly. Symptoms include lack of motor development, feeding difficulties, abnormal muscle tone (weakness or stiffness), and an abnormally large, poorly controlled head. Paralysis, blindness, or hearing loss may also occur. Children are characteristically quiet and apathetic. Although Canavan disease may occur in any ethnic group, it is more frequent among Ashkenazi Jews from eastern Poland, Lithuania, and western Russia, and among Saudi Arabians. Canavan disease can be identified by a simple prenatal blood test that screens for the missing enzyme or for mutations in the gene that controls aspartoacylase. Both parents must be carriers of the defective gene in order to have an affected child. When both parents are found to carry the Canavan gene mutation, there is a one in four (25 percent) chance with each pregnancy that the child will be affected with Canavan disease.",Canavan Disease,0000057,NINDS,http://www.ninds.nih.gov/disorders/canavan/canavan.htm,C0206307,T047,Disorders What are the treatments for Canavan Disease ?,0000057-2,treatment,"Canavan disease causes progressive brain atrophy. There is no cure, nor is there a standard course of treatment. Treatment is symptomatic and supportive.",Canavan Disease,0000057,NINDS,http://www.ninds.nih.gov/disorders/canavan/canavan.htm,C0206307,T047,Disorders What is the outlook for Canavan Disease ?,0000057-3,outlook,"The prognosis for Canavan disease is poor. Death usually occurs before age 10, although some children may survive into their teens and twenties.",Canavan Disease,0000057,NINDS,http://www.ninds.nih.gov/disorders/canavan/canavan.htm,C0206307,T047,Disorders what research (or clinical trials) is being done for Canavan Disease ?,0000057-4,research,The gene for Canavan disease has been located. Many laboratories offer prenatal screening for this disorder to populations at risk. Scientists have developed animal models for this disease and are using the models to test potential therapeutic strategies. Three strategies are currently under investigation: gene transfer to the brain in order to replace the mutated gene for the enzyme; metabolic therapy to provide a crucial missing metabolite (acetate); and enzyme therapy where the enzyme aspartoacylase is engineered to be able to enter the brain and is injected in the the blood stream. Encouraging results have been obtained using these strategies.,Canavan Disease,0000057,NINDS,http://www.ninds.nih.gov/disorders/canavan/canavan.htm,C0206307,T047,Disorders What is (are) Carpal Tunnel Syndrome ?,0000058-1,information,"Carpal tunnel syndrome (CTS) occurs when the median nerve, which runs from the forearm into the palm of the hand, becomes pressed or squeezed at the wrist. The carpal tunnel is a narrow, rigid passageway of ligament and bones at the base of the hand that houses the median nerve and the tendons that bend the fingers. The median nerve provides feeling to the palm side of the thumb and to most of the fingers. Symptoms usually start gradually, with numbness, tingling, weakness, and sometimes pain in the hand and wrist. People might have difficulty with tasks such as driving or reading a book. Decreased hand strength may make it difficult to grasp small objects or perform other manual tasks. In some cases no direct cause of the syndrome can be identified. Contributing factors include trauma or injury to the wrist that causes swelling, thyroid disease, rheumatoid arthritis, and fluid retention during pregnancy. Women are three times more likely than men to develop carpal tunnel syndrome. The disorder usually occurs only in adults.",Carpal Tunnel Syndrome,0000058,NINDS,http://www.ninds.nih.gov/disorders/carpal_tunnel/carpal_tunnel.htm,C0007286,T047,Disorders What are the treatments for Carpal Tunnel Syndrome ?,0000058-2,treatment,"Initial treatment generally involves immobilizing the wrist in a splint, nonsteroidal anti-inflammatory drugs to temporarily reduce swelling, and injections of corticosteroid drugs (such as prednisone). For more severe cases, surgery may be recommended.",Carpal Tunnel Syndrome,0000058,NINDS,http://www.ninds.nih.gov/disorders/carpal_tunnel/carpal_tunnel.htm,C0007286,T047,Disorders What is the outlook for Carpal Tunnel Syndrome ?,0000058-3,outlook,"In general, carpal tunnel syndrome responds well to treatment, but less than half of individuals report their hand(s) feeling completely normal following surgery. Some residual numbness or weakness is common. At work, people can perform stretching exercises, take frequent rest breaks, wear splints to keep wrists straight, and use correct posture and wrist position to help prevent or worsen symptoms. Wearing fingerless gloves can help keep hands warm and flexible.",Carpal Tunnel Syndrome,0000058,NINDS,http://www.ninds.nih.gov/disorders/carpal_tunnel/carpal_tunnel.htm,C0007286,T047,Disorders what research (or clinical trials) is being done for Carpal Tunnel Syndrome ?,0000058-4,research,"The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to conduct fundamental research on the brain and nervous system, and to use that knowledge to reduce the burden of neurological disease. NINDS-funded scientists are studying the factors that lead to long-lasting nerve pain disorders, and how the affected nerves are related to symptoms of numbness, loss of function, and pain. Researchers also are examining biomechanical stresses that contribute to the nerve damage responsible for symptoms of carpal tunnel syndrome in order to better understand, treat, and prevent it.",Carpal Tunnel Syndrome,0000058,NINDS,http://www.ninds.nih.gov/disorders/carpal_tunnel/carpal_tunnel.htm,C0007286,T047,Disorders What is (are) Complex Regional Pain Syndrome ?,0000059-1,information,"Complex regional pain syndrome (CRPS) is a chronic pain condition. The key symptom of CRPS is continuous, intense pain out of proportion to the severity of the injury, which gets worse rather than better over time. CRPS most often affects one of the arms, legs, hands, or feet. Often the pain spreads to include the entire arm or leg. Typical features include dramatic changes in the color and temperature of the skin over the affected limb or body part, accompanied by intense burning pain, skin sensitivity, sweating, and swelling. Doctors arent sure what causes CRPS. In some cases the sympathetic nervous system plays an important role in sustaining the pain. Another theory is that CRPS is caused by a triggering of the immune response, which leads to the characteristic inflammatory symptoms of redness, warmth, and swelling in the affected area.",Complex Regional Pain Syndrome,0000059,NINDS,http://www.ninds.nih.gov/disorders/reflex_sympathetic_dystrophy/reflex_sympathetic_dystrophy.htm,C0458219,T047,Disorders What are the treatments for Complex Regional Pain Syndrome ?,0000059-2,treatment,"Because there is no cure for CRPS, treatment is aimed at relieving painful symptoms. Doctors may prescribe topical analgesics, antidepressants, corticosteroids, and opioids to relieve pain. However, no single drug or combination of drugs has produced consistent long-lasting improvement in symptoms. Other treatments may include physical therapy, sympathetic nerve block, spinal cord stimulation, and intrathecal drug pumps to deliver opioids and local anesthetic agents via the spinal cord.",Complex Regional Pain Syndrome,0000059,NINDS,http://www.ninds.nih.gov/disorders/reflex_sympathetic_dystrophy/reflex_sympathetic_dystrophy.htm,C0458219,T047,Disorders What is the outlook for Complex Regional Pain Syndrome ?,0000059-3,outlook,"The prognosis for CRPS varies from person to person. Spontaneous remission from symptoms occurs in certain individuals. Others can have unremitting pain and crippling, irreversible changes in spite of treatment.",Complex Regional Pain Syndrome,0000059,NINDS,http://www.ninds.nih.gov/disorders/reflex_sympathetic_dystrophy/reflex_sympathetic_dystrophy.htm,C0458219,T047,Disorders what research (or clinical trials) is being done for Complex Regional Pain Syndrome ?,0000059-4,research,The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research relating to CRPS and also support additional research through grants to major medical institutions across the country. NINDS-supported scientists are studying new approaches to treat CRPS and intervene more aggressively after traumatic injury to lower the chances of developing the disorder. Researchers hope to identify specific cellular and molecular changes in sensory neurons following peripheral nerve injury to better understand the processes that underlie neuroplasticity (the brains ability to reorganize or form new nerve connections and pathways following injury or death of nerve cells). Identifying these mechanisms could provide targets for new drug therapies that could improve recovery following regeneration. Other researchers hope to better understand how CRPS develops by studying immune system activation and peripheral nerve signaling using an animal model of the disorder.,Complex Regional Pain Syndrome,0000059,NINDS,http://www.ninds.nih.gov/disorders/reflex_sympathetic_dystrophy/reflex_sympathetic_dystrophy.htm,C0458219,T047,Disorders What is (are) Cavernous Malformation ?,0000060-1,information,"Cerebral cavernous malformations (CCMs) are vascular lesions comprised of clusters of tightly packed, abnormally thin-walled small blood vessels (capillaries) that displace normal neurological tissue in the brain or spinal cord. The vessels are filled with slow-moving or stagnant blood that is usually clotted or in a state of decomposition. Cavernous malformations can occur in the brain, spinal cord, and some other body regions. In the brain and spinal cord these cavernous lesions are quite fragile and are prone to bleeding, causing hemorrhagic strokes (bleeding into the brain), seizures, and neurological deficits. CCMs can range in size from a few fractions of an inch to several inches in diameter, depending on the number of blood vessels involved. Some people develop multiple lesions while others never experience related medical problems. Hereditary forms of CCM are caused by mutations in one of three CCM disease genes: CCM1, CCM2, and CCM3. A large population with hereditary CCM disease is found in New Mexico and the Southwestern United States, in which the disease is caused by mutations in the gene CCM1 (or KRIT1).",Cavernous Malformation,0000060,NINDS,http://www.ninds.nih.gov/disorders/cavernous_malformation/cavernous_malformation.htm,C0000768,T019,Disorders What are the treatments for Cavernous Malformation ?,0000060-2,treatment,"The primary treatment option for a CCM is surgical removal. Radiation therapy has not been shown to be effective. The decision to operate is made based upon the risk of approaching the lesion. For example, symptomatic lesions close to the brain surface in non eloquent brain (areas for example, those areas not involved with motor function, speech, vision, hearing, memory, and learning) are very likely to be candidates for removal. On the other hand, lesions located in deep brain areas are associated with higher surgical risk and are often not candidates for surgery until the lesion has bled multiple times. Medications can often lessen general symptoms such as headache, back pain, and seizures.",Cavernous Malformation,0000060,NINDS,http://www.ninds.nih.gov/disorders/cavernous_malformation/cavernous_malformation.htm,C0000768,T019,Disorders What is the outlook for Cavernous Malformation ?,0000060-3,outlook,"Rebleeding from a cavernous angioma is common, it is not predictable, and individuals frequently have multiple CCMs found via magnetic resonance imaging. Individuals with CCM are faced with a diagnosis that imparts risk of multiple future hemorrhages that occur seemingly at random and without any preventative therapy except surgical removal.",Cavernous Malformation,0000060,NINDS,http://www.ninds.nih.gov/disorders/cavernous_malformation/cavernous_malformation.htm,C0000768,T019,Disorders what research (or clinical trials) is being done for Cavernous Malformation ?,0000060-4,research,"The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system, and to use that knowledge to reduce the burden of neurological disease. Studies of cerebral cavernous malformations (CCMs) show that alterations in the function of structural proteins may also give rise to vascular malformations. Currently there is no therapy to prevent the development or progression of CCMs. NINDS-funded scientists have developed an animal model that studies two of the familial genes related to the development of CCMs. Research shows that the protein signaling pathway Rhoa/ROCK, which allows cells to communicate regarding the formation of cell structure, is involved in blood vessel activity/ and the flow of molecules and cells into and out of blood vessels. These scientists hypothesize that blocking ROCK activity will inhibit CCM development and hemorrhage, and possibly create a therapy for these malformations.",Cavernous Malformation,0000060,NINDS,http://www.ninds.nih.gov/disorders/cavernous_malformation/cavernous_malformation.htm,C0000768,T019,Disorders What is (are) Central Cord Syndrome ?,0000061-1,information,"Central cord syndrome is the most common form of incomplete spinal cord injury characterized by impairment in the arms and hands and to a lesser extent in the legs. The brain's ability to send and receive signals to and from parts of the body below the site of injury is reduced but not entirely blocked. This syndrome is associated with damage to the large nerve fibers that carry information directly from the cerebral cortex to the spinal cord. These nerves are particularly important for hand and arm function. Symptoms may include paralysis or loss of fine control of movements in the arms and hands, with relatively less impairment of leg movements. Sensory loss below the site of the injury and loss of bladder control may also occur, as well as painful sensations such as tinging, burning, or dull ache. The overall amount and type of functional loss is dependent upon the severity of nerve damage. Central cord syndrome is usually the result of trauma that causes damage to the vertebrae in the neck or herniation of the vertebral discs. It also may develop in persons over the age of 50 due to gradual weakening of the vertebrae and discs, which narrows the spinal column and may contribute to compression of the spinal cord when the neck is hyper-extended.",Central Cord Syndrome,0000061,NINDS,http://www.ninds.nih.gov/disorders/central_cord/central_cord.htm,C0560651,T037,Disorders What are the treatments for Central Cord Syndrome ?,0000061-2,treatment,"There is no cure for central cord syndrome although some people recover near-normal function. There is no standard course of treatment, although drug therapy, surgery, and rest are often part of the program. Magnetic resonance imaging (MRI) is used to indicate the degree of spinal cord compression and vertebral instability. Vertebral instability due to acute traumatic injury or cervical disc herniation is often treated by surgery to prevent further damage to the spinal cord. Recent reports indicate that earlier surgery may improve chances for recovery. Numerous recent studies suggest that surgery also can be beneficial in individuals with persistent compression of the spinal cord and ongoing neurological deterioration.",Central Cord Syndrome,0000061,NINDS,http://www.ninds.nih.gov/disorders/central_cord/central_cord.htm,C0560651,T037,Disorders What is the outlook for Central Cord Syndrome ?,0000061-3,outlook,"The prognosis for central cord syndrome varies, but most people whose syndrome is caused by trauma have some recovery of neurological function. Evaluation of abnormal signals on MRI images can help predict he likelihood that neurological recovery may occur naturally. Those who receive medical intervention soon after their injury often have good outcomes. Many people with the disorder recover substantial function after their initial injury, and the ability to walk is recovered in most cases, although some impairment may remain. Improvement occurs first in the legs, then the bladder, and may be seen in the arms. Hand function recovers last, if at all. Recovery is generally better in younger patients, compared to those over the age of 50.",Central Cord Syndrome,0000061,NINDS,http://www.ninds.nih.gov/disorders/central_cord/central_cord.htm,C0560651,T037,Disorders what research (or clinical trials) is being done for Central Cord Syndrome ?,0000061-4,research,"Our understanding of central cord syndrome has increased greatly in recent decades as a result of research funded conducted by the National Institute of Neurological Disorders and Stroke (NINDS). Much of this research focuses on finding better ways to prevent, treat, and ultimately cure neurological disorders such as central cord syndrome.",Central Cord Syndrome,0000061,NINDS,http://www.ninds.nih.gov/disorders/central_cord/central_cord.htm,C0560651,T037,Disorders What is (are) Central Pain Syndrome ?,0000062-1,information,"Central pain syndrome is a neurological condition caused by damage to or dysfunction of the central nervous system (CNS), which includes the brain, brainstem, and spinal cord. This syndrome can be caused by stroke, multiple sclerosis, tumors, epilepsy, brain or spinal cord trauma, or Parkinson's disease. The character of the pain associated with this syndrome differs widely among individuals partly because of the variety of potential causes. Central pain syndrome may affect a large portion of the body or may be more restricted to specific areas, such as hands or feet. The extent of pain is usually related to the cause of the CNS injury or damage. Pain is typically constant, may be moderate to severe in intensity, and is often made worse by touch, movement, emotions, and temperature changes, usually cold temperatures. Individuals experience one or more types of pain sensations, the most prominent being burning. Mingled with the burning may be sensations of ""pins and needles;"" pressing, lacerating, or aching pain; and brief, intolerable bursts of sharp pain similar to the pain caused by a dental probe on an exposed nerve. Individuals may have numbness in the areas affected by the pain. The burning and loss of touch sensations are usually most severe on the distant parts of the body, such as the feet or hands. Central pain syndrome often begins shortly after the causative injury or damage, but may be delayed by months or even years, especially if it is related to post-stroke pain.",Central Pain Syndrome,0000062,NINDS,http://www.ninds.nih.gov/disorders/central_pain/central_pain.htm,C1536114,T047,Disorders What are the treatments for Central Pain Syndrome ?,0000062-2,treatment,"Pain medications often provide some reduction of pain, but not complete relief of pain, for those affected by central pain syndrome. Tricyclic antidepressants such as nortriptyline or anticonvulsants such as neurontin (gabapentin) can be useful. Lowering stress levels appears to reduce pain.",Central Pain Syndrome,0000062,NINDS,http://www.ninds.nih.gov/disorders/central_pain/central_pain.htm,C1536114,T047,Disorders What is the outlook for Central Pain Syndrome ?,0000062-3,outlook,"Central pain syndrome is not a fatal disorder, but the syndrome causes disabling chronic pain and suffering among the majority of individuals who have it.",Central Pain Syndrome,0000062,NINDS,http://www.ninds.nih.gov/disorders/central_pain/central_pain.htm,C1536114,T047,Disorders what research (or clinical trials) is being done for Central Pain Syndrome ?,0000062-4,research,The NINDS vigorously pursues a research program seeking new treatments for chronic pain and nervous system damage. The goals of this research are to develop ways to more effectively treat and potentially reverse debilitating conditions such as central pain syndrome.,Central Pain Syndrome,0000062,NINDS,http://www.ninds.nih.gov/disorders/central_pain/central_pain.htm,C1536114,T047,Disorders What is (are) Central Pontine Myelinolysis ?,0000063-1,information,"Central pontine myelinolysis (CPM) is a neurological disorder that most frequently occurs after too rapid medical correction of sodium deficiency (hyponatremia). The rapid rise in sodium concentration is accompanied by the movement of small molecules and pulls water from brain cells. Through a mechanism that is only partly understood, the shift in water and brain molecules leads to the destruction of myelin, a substance that surrounds and protects nerve fibers. Nerve cells (neurons) can also be damaged. Certain areas of the brain are particularly susceptible to myelinolysis, especially the part of the brain stem called the pons. Some individuals will also have damage in other areas of the brain, which is called extrapontine myelinolysis (EPM). Experts estimate that 10 percent of those with CPM will also have areas of EPM. The initial symptoms of myelinolysis, which begin to appear 2 to 3 days after hyponatremia is corrected, include a depressed level of awareness, difficulty speaking (dysarthria or mutism), and difficulty swallowing (dysphagia). Additional symptoms often arise over the next 1-2 weeks, including impaired thinking, weakness or paralysis in the arms and legs, stiffness, impaired sensation, and difficulty with coordination. At its most severe, myelinolysis can lead to coma, locked-in syndrome (which is the complete paralysis of all of the voluntary muscles in the body except for those that control the eyes), and death. Although many affected people improve over weeks to months, some have permanent disability. Some also develop new symptoms later, including behavioral or intellectual impairment or movement disorders like parkinsonism or tremor. Anyone, including adults and children, who undergoes a rapid rise in serum sodium is at risk for myelinolysis. Some individuals who are particularly vulnerable are those with chronic alcoholism and those who have had a liver transplant. Myelinolysis has occurred in individuals undergoing renal dialysis, burn victims, people with HIV-AIDS, people over-using water loss pills (diuretics), and women with eating disorders such as anorexia or bulimia. The risk for CPM is greater if the serum (blood) sodium was low for at least 2 days before correction.",Central Pontine Myelinolysis,0000063,NINDS,http://www.ninds.nih.gov/disorders/central_pontine/central_pontine_myelinolysis.htm,C0206083,T047,Disorders What are the treatments for Central Pontine Myelinolysis ?,0000063-2,treatment,"The ideal treatment for myelinolysis is to prevent the disorder by identifying individuals at risk and following careful guidelines for evaluation and correction of hyponatremia. These guidelines aim to safely restore the serum sodium level, while protecting the brain. For those who have hyponatremia for at least 2 days, or for whom the duration is not known, the rate of rise in the serum sodium concentration should be kept below 10 mmol/L during any 24-hour period, if possible. For those who develop myelinolysis, treatment is supportive. Some physicians have tried to treat myelinolysis with steroid medication or other experimental therapies, but none has been proven effective. Individuals are likely to require extensive and prolonged physical therapy and rehabilitation. Those individuals who develop parkinsonian symptoms may respond to the dopaminergic drugs that work for individuals with Parkinsons disease.",Central Pontine Myelinolysis,0000063,NINDS,http://www.ninds.nih.gov/disorders/central_pontine/central_pontine_myelinolysis.htm,C0206083,T047,Disorders What is the outlook for Central Pontine Myelinolysis ?,0000063-3,outlook,"The prognosis for myelinolysis varies. Some individuals die and others recover completely. Although the disorder was originally considered to have a mortality rate of 50 percent or more, improved imaging techniques and early diagnosis have led to a better prognosis for many people. Most individuals improve gradually, but still continue to have challenges with speech, walking, emotional ups and downs, and forgetfulness.",Central Pontine Myelinolysis,0000063,NINDS,http://www.ninds.nih.gov/disorders/central_pontine/central_pontine_myelinolysis.htm,C0206083,T047,Disorders what research (or clinical trials) is being done for Central Pontine Myelinolysis ?,0000063-4,research,"The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge of the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. The NINDS is a component of the National Institutes of Health, the leading supporter of biomedical research in the world. The NINDS conducts and supports research to better understand conditions that affect the protective myelin coating around nerve fibers and ways to prevent and treat the destruction of myelin. Scientists hope to develop drugs that can prevent brain cells from dying or help them produce new myelin. Research funded by the NIH's National Institute of Diabetes and Digestive and Kidney Diseases aims to understand the biological mechanisms involved in water balance in the body.",Central Pontine Myelinolysis,0000063,NINDS,http://www.ninds.nih.gov/disorders/central_pontine/central_pontine_myelinolysis.htm,C0206083,T047,Disorders What is (are) Cephalic Disorders ?,0000064-1,information,"Cephalic disorders are congenital conditions that stem from damage to or abnormal development of the budding nervous system. Most cephalic disorders are caused by a disturbance that occurs very early in the development of the fetal nervous system. Damage to the developing nervous system is a major cause of chronic, disabling disorders, and sometimes death in infants, children, and even adults. Cephalic disorders may be influenced by hereditary or genetic conditions or by environmental exposures during pregnancy (e.g., medication taken by the mother, maternal infection, exposure to radiation). Some cephalic disorders occur when the cranial sutures (the fibrous joints that connect the bones of the skull) join prematurely. Understanding the normal development of the human nervous system may lead to a better understanding of cephalic disorders.",Cephalic Disorders,0000064,NINDS,http://www.ninds.nih.gov/disorders/cephalic_disorders/cephalic_disorders.htm,C1456549,T046,Disorders What are the treatments for Cephalic Disorders ?,0000064-2,treatment,"Treatments for cephalic disorders depend upon the particular type of disorder. For most cephalic disorders, treatment is only symptomatic and supportive. In some cases, anticonvulsant medications shunts, or physical therapy are appropriate.",Cephalic Disorders,0000064,NINDS,http://www.ninds.nih.gov/disorders/cephalic_disorders/cephalic_disorders.htm,C1456549,T046,Disorders What is the outlook for Cephalic Disorders ?,0000064-3,outlook,"The degree to which damage to the developing nervous system harms the mind and body varies enormously. Many disabilities are mild enough to allow those afflicted to eventually function independently in society. Others are not. Some infants, children, and adults die; others remain totally disabled; and an even larger population is partially disabled, functioning well below normal capacity.",Cephalic Disorders,0000064,NINDS,http://www.ninds.nih.gov/disorders/cephalic_disorders/cephalic_disorders.htm,C1456549,T046,Disorders what research (or clinical trials) is being done for Cephalic Disorders ?,0000064-4,research,"Scientists are rapidly learning how harmful insults, a critical nutritional deficiency, or exposure to an environmental insult at various stages of pregnancy can lead to developmental disorders. Research projects currently underway include a study to evaluate increased risk of neural tube defects and various other congenital malformations in association with environmental and occupational exposure to pesticides. Scientists are also concentrating their efforts on understanding the complex processes responsible for normal early development of the brain and nervous system and how the disruption of any of these processes results in congenital anomalies such as cephalic disorders. Currently, researchers are examining the mechanisms involved in neurulation -- the process of forming the neural tube. Investigators are also conducting a variety of genetic studies. Understanding how genes control brain cell migration, proliferation, differentiation, and death, and how radiation, drugs, toxins, infections, and other factors disrupt these processes will aid in preventing many congenital neurological disorders. Recent studies have shown that the addition of folic acid to the diet of women of child-bearing age may significantly reduce the incidence of neural tube defects. Therefore, it is recommended that all women of child-bearing age consume 0.4 mg of folic acid daily.",Cephalic Disorders,0000064,NINDS,http://www.ninds.nih.gov/disorders/cephalic_disorders/cephalic_disorders.htm,C1456549,T046,Disorders What is (are) Farber's Disease ?,0000065-1,information,"Farbers disease, also known as Farber's lipogranulomatosis, describes a group of inherited metabolic disorders called lipid storage diseases, in which excess amounts of lipids (oils, fatty acids, and related compounds) build up to harmful levels in the joints, tissues, and central nervous system. The liver, heart, and kidneys may also be affected. Disease onset is typically seen in early infancy but may occur later in life. Symptoms of the classic form may have moderately impaired mental ability and difficulty with swallowing. Other symptoms may include chronic shortening of muscles or tendons around joints. arthritis, swollen lymph nodes and joints, hoarseness, nodules under the skin (and sometimes in the lungs and other parts of the body), and vomiting. Affected persons may require the insertion of a breathing tube. In severe cases, the liver and spleen are enlarged. Farber's disease is caused by a deficiency of the enzyme ceramidase. The disease occurs when both parents carry and pass on the defective gene that regulates the protein sphingomyelin. Children born to these parents have a 25 percent chance of inheriting the disorder and a 50 percent chance of carrying the faulty gene. The disorder affects both males and females.",Farber's Disease,0000065,NINDS,http://www.ninds.nih.gov/disorders/Farbers/farbers.htm,C0268255,T047,Disorders What are the treatments for Farber's Disease ?,0000065-2,treatment,Currently there is no specific treatment for Farbers disease. Corticosteroids may help relieve pain. Bone marrow transplants may improve granulomas (small masses of inflamed tissue) on individuals with little or no lung or nervous system complications. Older persons may have granulomas surgically reduced or removed.,Farber's Disease,0000065,NINDS,http://www.ninds.nih.gov/disorders/Farbers/farbers.htm,C0268255,T047,Disorders What is the outlook for Farber's Disease ?,0000065-3,outlook,"Most children with the classic form of Farbers disease die by age 2, usually from lung disease. Children born with the most severe form of the disease usually die within 6 months, while individuals having a milder form of the disease may live into their teenage years or young adulthood.",Farber's Disease,0000065,NINDS,http://www.ninds.nih.gov/disorders/Farbers/farbers.htm,C0268255,T047,Disorders what research (or clinical trials) is being done for Farber's Disease ?,0000065-4,research,"The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. Research funded by the NINDS focuses on better understanding of how neurological deficits arise in lipid storage diseases and on the development of new treatments targeting disease mechanisms, including gene therapies, cell-based therapies and pharmacological approaches. The NINDS, along with other Institutes and Centers at the National Institutes of Health, supports the Lysosomal Disease network of centers that addresses some of the major challenges in the diagnosis, management, and therapy of rare diseases, including the lipid storage diseases.Research on lipid storage diseases within the Network includes longitudinal studies of the natural history and/or treatment of these disorders. Additional studies will emphasize the quantitative analysis of the central nervous system structure and function, and develop biomarkers (signs that can indicate the diagnosis or progression of a disease) for these disorders.",Farber's Disease,0000065,NINDS,http://www.ninds.nih.gov/disorders/Farbers/farbers.htm,C0268255,T047,Disorders What is (are) Cerebellar Degeneration ?,0000066-1,information,"Cerebellar degeneration is a process in which neurons in the cerebellum - the area of the brain that controls coordination and balance - deteriorate and die. Diseases that cause cerebellar degeneration can also involve other areas of the central nervous system,including the spinal cord, medulla oblongata, cerebral cortex, and brain stem. Cerebellar degeneration may be the result of inherited genetic mutations that alter the normal production of specific proteins that are necessary for the survival of neurons. Associated diseases: Diseases that are specific to the brain, as well as diseases that occur in other parts of the body, can cause neurons to die in the cerebellum. Neurological diseases that feature cerebellar degeneration include: - ischemic or hemorrhagic stroke, when there is lack of blood flow or oxygen to the cerebellum - cerebellar cortical atrophy, multisystem atrophy, and olivopontocerebellar degeneration, progressive degenerative disorders in which cerebellar degeneration is a key feature - Friedreichs ataxia, and other spinocerebellar ataxias, which are caused by inherited genetic mutations that result in ongoing loss of neurons in the cerebellum, brain stem, and spinal cord - transmissible spongiform encephalopathies (such as Creutzfeldt-Jakob disease) in which abnormal proteins cause inflammation in the brain, including the cerebellum - multiple sclerosis, in which damage to the insulating membrane (myelin) that wraps around and protects nerve cells can involve the cerebellum Other diseases that can cause cerebellar degeneration include: - chronic alcohol abuse that leads to temporary or permanent cerebellar damage - paraneoplastic disorders, in which a malignancy (cancer) in other parts of the body produces substances that cause immune system cells to attack neurons in the cerebellum Symptoms of cerebellar degeneration: The most characteristic symptom of cerebellar degeneration is a wide-based, unsteady, lurching walk, often accompanied by a back and forth tremor in the trunk of the body. Other symptoms may include slow, unsteady and jerky movement of the arms or legs, slowed and slurred speech, and nystagmus -- rapid, small movements of the eyes.",Cerebellar Degeneration,0000066,NINDS,http://www.ninds.nih.gov/disorders/cerebellar_degeneration/cerebellar_degeneration.htm,C0262404,T047,Disorders what research (or clinical trials) is being done for Cerebellar Degeneration ?,0000066-2,research,"The NINDS funds research to find the genes involved in diseases that cause cerebellar degeneration. Discovering these genes, identifying their mutations, and understanding how the abnormal proteins they produce cause cerebellar degeneration may eventually help scientists find ways to prevent, treat, and even cure the diseases that involve cerebellar degeneration.",Cerebellar Degeneration,0000066,NINDS,http://www.ninds.nih.gov/disorders/cerebellar_degeneration/cerebellar_degeneration.htm,C0262404,T047,Disorders What is (are) Cerebellar Hypoplasia ?,0000067-1,information,"Cerebellar hypoplasia is a neurological condition in which the cerebellum is smaller than usual or not completely developed. Cerebellar hypoplasia is a feature of a number of congenital (present at birth) malformation syndromes, such as Walker-Warburg syndrome (a form of muscular dystrophy. It is also associated with several inherited metabolic disorders, such as Williams syndrome, and some of the neurodegenerative disorders that begin in early childhood, such as ataxia telangiectasia. In an infant or young child, symptoms of a disorder that features cerebellar hypoplasia might include floppy muscle tone, developmental or speech delay, problems with walking and balance, seizures, intellectual disability, and involuntary side to side movements of the eyes. In an older child, symptoms might include headache, dizzy spells, clumsiness, and hearing impairment.",Cerebellar Hypoplasia,0000067,NINDS,http://www.ninds.nih.gov/disorders/cerebellar_hypoplasia/cerebellar_hypoplasia.htm,C0266470,T019,Disorders What are the treatments for Cerebellar Hypoplasia ?,0000067-2,treatment,"There is no standard course of treatment for cerebellar hypoplasia. Treatment depends upon the underlying disorder and the severity of symptoms. Generally, treatment is symptomatic and supportive.",Cerebellar Hypoplasia,0000067,NINDS,http://www.ninds.nih.gov/disorders/cerebellar_hypoplasia/cerebellar_hypoplasia.htm,C0266470,T019,Disorders What is the outlook for Cerebellar Hypoplasia ?,0000067-3,outlook,"The prognosis is dependent upon the underlying disorder. Some of the disorders that are associated with cerebellar hypoplasia are progressive, which means the condition will worsen over time, and will most likely have a poor prognosis. Other disorders that feature cerebellar hypoplasia are not progressive, such as those that are the result of abnormal brain formation during fetal development, and might have a better outcome.",Cerebellar Hypoplasia,0000067,NINDS,http://www.ninds.nih.gov/disorders/cerebellar_hypoplasia/cerebellar_hypoplasia.htm,C0266470,T019,Disorders what research (or clinical trials) is being done for Cerebellar Hypoplasia ?,0000067-4,research,"The National Institute of Neurological Disorders and Stroke (NINDS) supports research related to cerebellar hypoplasia and its associated disorders through grants to major research institutions across the country. Much of this research focuses on finding better ways to prevent, treat, and ultimately cure disorders that feature cerebellar hypoplasia.",Cerebellar Hypoplasia,0000067,NINDS,http://www.ninds.nih.gov/disorders/cerebellar_hypoplasia/cerebellar_hypoplasia.htm,C0266470,T019,Disorders What is (are) Cerebral Arteriosclerosis ?,0000068-1,information,"Cerebral arteriosclerosis is the result of thickening and hardening of the walls of the arteries in the brain. Symptoms of cerebral arteriosclerosis include headache, facial pain, and impaired vision. Cerebral arteriosclerosis can cause serious health problems. If the walls of an artery are too thick, or a blood clot becomes caught in the narrow passage, blood flow to the brain can become blocked and cause an ischemic stroke. When the thickening and hardening is uneven, arterial walls can develop bulges (called aneurysms). If a bulge ruptures, bleeding in the brain can cause a hemorrhagic stroke. Both types of stroke can be fatal. Cerebral arteriosclerosis is also related to a condition known as vascular dementia, in which small, symptom-free strokes cause cumulative damage and death to neurons (nerve cells) in the brain. Personality changes in the elderly, such as apathy, weeping, transient befuddlement, or irritability, might indicate that cerebral arteriosclerosis is present in the brain. Computer tomography (CT) and magnetic resonance imaging (MRI) of the brain can help reveal the presence of cerebral arteriosclerosis before ischemic strokes, hemorrhagic strokes, or vascular dementia develop.",Cerebral Arteriosclerosis,0000068,NINDS,http://www.ninds.nih.gov/disorders/cerebral_arteriosclerosis/cerebral_arteriosclerosis.htm,C0877854,T047,Disorders What are the treatments for Cerebral Arteriosclerosis ?,0000068-2,treatment,"Treatment for cerebral arteriosclerosis can include medications or surgery. Physicians also may recommend treatments to help people control high blood pressure, quit cigarette smoking, and reduce cholesterol levels, all of which are risk factors for cerebral arteriosclerosis.",Cerebral Arteriosclerosis,0000068,NINDS,http://www.ninds.nih.gov/disorders/cerebral_arteriosclerosis/cerebral_arteriosclerosis.htm,C0877854,T047,Disorders What is the outlook for Cerebral Arteriosclerosis ?,0000068-3,outlook,Cerebral arteriosclerosis can lead to life threatening health events such as ischemic or hemorrhagic strokes. People who survive stroke may have long-term neurological and motor impairments.,Cerebral Arteriosclerosis,0000068,NINDS,http://www.ninds.nih.gov/disorders/cerebral_arteriosclerosis/cerebral_arteriosclerosis.htm,C0877854,T047,Disorders what research (or clinical trials) is being done for Cerebral Arteriosclerosis ?,0000068-4,research,The NINDS supports an extensive research program on stroke and conditions that can lead to stroke. Much of this research is aimed at finding ways to prevent and treat conditions such as cerebral arteriosclerosis.,Cerebral Arteriosclerosis,0000068,NINDS,http://www.ninds.nih.gov/disorders/cerebral_arteriosclerosis/cerebral_arteriosclerosis.htm,C0877854,T047,Disorders What is (are) Cerebral Atrophy ?,0000069-1,information,"Cerebral atrophy is a common feature of many of the diseases that affect the brain. Atrophy of any tissue means loss of cells. In brain tissue, atrophy describes a loss of neurons and the connections between them. Atrophy can be generalized, which means that all of the brain has shrunk; or it can be focal, affecting only a limited area of the brain and resulting in a decrease of the functions that area of the brain controls. If the cerebral hemispheres (the two lobes of the brain that form the cerebrum) are affected, conscious thought and voluntary processes may be impaired. Associated Diseases/Disorders: The pattern and rate of progression of cerebral atrophy depends on the disease involved. Diseases that cause cerebral atrophy include: - stroke and traumatic brain injury - Alzheimers disease, Picks disease, and fronto-temporal dementia - cerebral palsy, in which lesions (damaged areas) may impair motor coordination - Huntingtons disease, and other hereditary diseases that are associated with genetic mutations - leukodystrophies, such as Krabbe disease, which destroy the myelin sheath that protects axons - mitochondrial encephalomyopathies, such as Kearns-Sayre syndrome, which interfere with the basic functions of neurons - multiple sclerosis, which causes inflammation, myelin damage, and lesions in cerebral tissue - infectious diseases, such as encephalitis, neurosyphilis, and AIDS, in which an infectious agent or the inflammatory reaction to it destroys neurons and their axons Symptoms of cerebral atrophy: Many diseases that cause cerebral atrophy are associated with dementia, seizures, and a group of language disorders called the aphasias. - Dementia is characterized by a progressive impairment of memory and intellectual function that is severe enough to interfere with social and work skills. Memory, orientation, abstraction, ability to learn, visual-spatial perception, and higher executive functions such as planning, organizing, and sequencing may also be impaired. - Seizures can take different forms, appearing as disorientation, repetitive movements, loss of consciousness, or convulsions. - Aphasias are a group of disorders characterized by disturbances in speaking and understanding language. Receptive aphasia causes impaired comprehension. Expressive aphasia is reflected in odd choices of words, the use of partial phrases, disjointed clauses, and incomplete sentences.",Cerebral Atrophy,0000069,NINDS,http://www.ninds.nih.gov/disorders/cerebral_atrophy/cerebral_atrophy.htm,C0235946,T047,Disorders what research (or clinical trials) is being done for Cerebral Atrophy ?,0000069-2,research,"The NINDS funds research looking at many of the diseases and disorders that cause cerebral atrophy. Understanding the biological mechanisms that cause neurons to die in the brain will help researchers find ways to prevent, treat, and even cure the diseases that lead to cerebral atrophy.",Cerebral Atrophy,0000069,NINDS,http://www.ninds.nih.gov/disorders/cerebral_atrophy/cerebral_atrophy.htm,C0235946,T047,Disorders What is (are) Wernicke-Korsakoff Syndrome ?,0000070-1,information,"Wernicke's encephalopathy is a degenerative brain disorder caused by the lack of thiamine (vitamin B1). It may result from alcohol abuse, dietary deficiencies, prolonged vomiting, eating disorders, or the effects of chemotherapy. B1 deficiency causes damage to the brain's thalamus and hypothalamus. Symptoms include mental confusion, vision problems, coma, hypothermia, low blood pressure, and lack of muscle coordination (ataxia). Korsakoff syndrome (also called Korsakoff's amnesic syndrome) is a memory disorder that results from vitamin B1 deficiency and is associated with alcoholism. Korsakoff's syndrome damages nerve cells and supporting cells in the brain and spinal cord, as well as the part of the brain involved with memory. Symptoms include amnesia, tremor, coma, disorientation, and vision problems, The disorder's main features are problems in acquiring new information or establishing new memories, and in retrieving previous memories. Although Wernicke's and Korsakoff's are related disorders, some scientists believe them to be different stages of the same disorder, which is called Wernicke-Korsakoff syndrome. Wernicke's encephalopathy represents the ""acute"" phase of the disorder and Korsakoff's amnesic syndrome represents the disorder progressing to a ""chronic"" or long-lasting stage.",Wernicke-Korsakoff Syndrome,0000070,NINDS,http://www.ninds.nih.gov/disorders/wernicke_korsakoff/wernicke-korsakoff.htm,C0349464,T048,Disorders What are the treatments for Wernicke-Korsakoff Syndrome ?,0000070-2,treatment,"Treatment involves replacement of thiamine and providing proper nutrition and hydration. In some cases, drug therapy is also recommended.Stopping alcohol use may prevent further nerve and brain damage. In individuals with Wernicke's encephalopathy, it is very important to start thiamine replacement before beginning nutritional replenishment.",Wernicke-Korsakoff Syndrome,0000070,NINDS,http://www.ninds.nih.gov/disorders/wernicke_korsakoff/wernicke-korsakoff.htm,C0349464,T048,Disorders What is the outlook for Wernicke-Korsakoff Syndrome ?,0000070-3,outlook,"Most symptoms of Wernicke's encephalopathy can be reversed if detected and treated promptly and completely. Stopping alcohol use may prevent further nerve and brain damage. However, improvement in memory function is slow and, usually, incomplete. Without treatment, these disorders can be disabling and life-threatening.",Wernicke-Korsakoff Syndrome,0000070,NINDS,http://www.ninds.nih.gov/disorders/wernicke_korsakoff/wernicke-korsakoff.htm,C0349464,T048,Disorders what research (or clinical trials) is being done for Wernicke-Korsakoff Syndrome ?,0000070-4,research,"The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. The NINDS supports research on neurological disorders such as Wernicke's encephalopathy, Korsakoff's amnesic syndrome, and Wernicke-Korsakoff syndrome, to expand our understanding of the functional changes of the diseases and ways to treat them..One areas of research is studying how exercise can improve cognitive functioning based on modulation of certain nerve cells in a rodent model of amnesia produced by by thiamine deficiency. The National Institute of Alcohol Abuse and Alcoholism also supports research on these disorders.",Wernicke-Korsakoff Syndrome,0000070,NINDS,http://www.ninds.nih.gov/disorders/wernicke_korsakoff/wernicke-korsakoff.htm,C0349464,T048,Disorders What is (are) Sotos Syndrome ?,0000071-1,information,"Sotos syndrome (cerebral gigantism) is a rare genetic disorder caused by mutation in the NSD1 gene on chromosome 5. It is characterized by excessive physical growth during the first few years of life. Children with Sotos syndrome tend to be large at birth and are often taller, heavier, and have larger heads (macrocrania) than is normal for their age. Symptoms of the disorder, which vary among individuals, include a disproportionately large and long head with a slightly protrusive forehead and pointed chin, large hands and feet, hypertelorism (an abnormally increased distance between the eyes), and down-slanting eyes. The disorder is often accompanied by mild cognitive impairment; delayed motor, cognitive, and social development; hypotonia (low muscle tone), and speech impairments. Clumsiness, an awkward gait, and unusual aggressiveness or irritability may also occur. Although most cases of Sotos syndrome occur sporadically (meaning they are not known to be inherited), familial cases have also been reported.",Sotos Syndrome,0000071,NINDS,http://www.ninds.nih.gov/disorders/sotos/sotos.htm,C0175695,T019,Disorders What are the treatments for Sotos Syndrome ?,0000071-2,treatment,There is no standard course of treatment for Sotos syndrome. Treatment is symptomatic.,Sotos Syndrome,0000071,NINDS,http://www.ninds.nih.gov/disorders/sotos/sotos.htm,C0175695,T019,Disorders What is the outlook for Sotos Syndrome ?,0000071-3,outlook,"Sotos syndrome is not a life-threatening disorder and patients may have a normal life expectancy. The initial abnormalities of Sotos syndrome usually resolve as the growth rate becomes normal after the first few years of life. Developmental delays may improve in the school-age years, and adults with Sotos syndrome are likely to be within the normal range for intellect and height. However, coordination problems may persist into adulthood.",Sotos Syndrome,0000071,NINDS,http://www.ninds.nih.gov/disorders/sotos/sotos.htm,C0175695,T019,Disorders what research (or clinical trials) is being done for Sotos Syndrome ?,0000071-4,research,"The NINDS supports and conducts a wide range of studies which focus on identifying and learning more about the genes involved in normal brain development. The knowledge gained from these fundamental studies provides the foundation for understanding how this process can go awry and, thus, may eventually give clues to understanding disorders such as Sotos syndrome.",Sotos Syndrome,0000071,NINDS,http://www.ninds.nih.gov/disorders/sotos/sotos.htm,C0175695,T019,Disorders What is (are) Cerebral Palsy ?,0000072-1,information,"The term cerebral palsy refers to a group of neurological disorders that appear in infancy or early childhood and permanently affect body movement, muscle coordination, and balance.CP affects the part of the brain that controls muscle movements. The majority of children with cerebral palsy are born with it, although it may not be detected until months or years later.The early signs of cerebral palsy usually appear before a child reaches 3 years of age.The most common are a lack of muscle coordination when performing voluntary movements (ataxia); stiff or tight muscles and exaggerated reflexes (spasticity); walking with one foot or leg dragging; walking on the toes, a crouched gait, or a scissored gait; and muscle tone that is either too stiff or too floppy.Other neurological symptoms that commonly occur in individuals with CP include seizures, hearing loss and impaired vision, bladder and bowel control issues, and pain and abnormal sensations. A small number of children have CP as the result of brain damage in the first few months or years of life, brain infections such as bacterial meningitis or viral encephalitis, or head injury from a motor vehicle accident, a fall, or child abuse. The disorder isn't progressive, meaning that the brain damage typically doesn't get worse over time. Risk factors associated with CP do not cause the disorder but can increase a child's chance of being born with the disorder.CP is not hereditary.",Cerebral Palsy,0000072,NINDS,http://www.ninds.nih.gov/disorders/cerebral_palsy/cerebral_palsy.htm,C0007789,T047,Disorders What are the treatments for Cerebral Palsy ?,0000072-2,treatment,"Cerebral palsy cant be cured, but treatment will often improve a child's capabilities. In general, the earlier treatment begins the better chance children have of overcoming developmental disabilities or learning new ways to accomplish the tasks that challenge them.Early intervention, supportive treatments, medications, and surgery can help many individuals improve their muscle control. Treatment may include physical and occupational therapy, speech therapy, drugs to control seizures, relax muscle spasms, and alleviate pain; surgery to correct anatomical abnormalities or release tight muscles; braces and other orthotic devices; wheelchairs and rolling walkers; and communication aids such as computers with attached voice synthesizers.",Cerebral Palsy,0000072,NINDS,http://www.ninds.nih.gov/disorders/cerebral_palsy/cerebral_palsy.htm,C0007789,T047,Disorders What is the outlook for Cerebral Palsy ?,0000072-3,outlook,"Cerebral palsy doesnt always cause profound disabilities and for most people with CP the disorder does not affect life expectancy. Many children with CP have average to above average intelligence and attend the same schools as other children their age. Supportive treatments, medications, and surgery can help many individuals improve their motor skills and ability to communicate with the world..While one child with CP might not require special assistance, a child with severe CP might be unable to walk and need extensive, lifelong care.",Cerebral Palsy,0000072,NINDS,http://www.ninds.nih.gov/disorders/cerebral_palsy/cerebral_palsy.htm,C0007789,T047,Disorders what research (or clinical trials) is being done for Cerebral Palsy ?,0000072-4,research,"The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge of the brain and nervous system and to use that knowledge to reduce the burden of neurological disease.The NINDS is a component of the National Institutes of Health, the leading supporter of biomedical research in the world. Researchers supported by the NINDS are investigating the roles of mishaps early in brain development, including genetic defects, which are sometimes responsible for the brain malformations and abnormalities that result in cerebral palsy.Scientists are also looking at traumatic events in newborn babies brains, such as bleeding, epileptic seizures, and breathing and circulation problems, which can cause the abnormal release of chemicals that trigger the kind of damage that causes cerebral palsy. NINDS-supported researchers also hope to find ways to prevent white matter disease, the most common cause of cerebral palsy. To make sure children are getting the right kinds of therapies, studies are also being done that evaluate both experimental treatments and treatments already in use so that physicians and parents have valid information to help them choose the best therapy.",Cerebral Palsy,0000072,NINDS,http://www.ninds.nih.gov/disorders/cerebral_palsy/cerebral_palsy.htm,C0007789,T047,Disorders What is (are) Cerebro-Oculo-Facio-Skeletal Syndrome (COFS) ?,0000073-1,information,"Cerebro-oculo-facio-skeletal syndrome (COFS) is a pediatric, genetic, degenerative disorder that involves the brain and the spinal cord. It is characterized by craniofacial and skeletal abnormalities, severely reduced muscle tone, and impairment of reflexes. Symptoms may include large, low-set ears, small eyes, microcephaly (abnormal smallness of the head), micrognathia (abnormal smallness of the jaws), clenched fists, wide-set nipples, vision impairments, involuntary eye movements, and impaired cognitive development, which can be moderate or severe. Respiratory infections are frequent. COFS is diagnosed at birth. Ultrasound technology can detect fetuses with COFS at an early stage of pregnancy, as the fetus moves very little, and some of the abnormalities result, in part, from lack of movement. A small number of individuals with COFS have a mutation in the ""ERCC6"" gene and are more appropriately diagnosed as having Cockayne Syndrome Type II. Other individuals with COFS may have defects in the xeroderma pigmentosum genes ""XPG"" or ""XPD."" Still others who are diagnosed with COFS have no identifiable genetic defect and are presumably affected because of mutations in a distinct, as-yet-unknown gene. NOTE: This disorder is not the same as Cohen's syndrome (cerebral obesity ocular skeletal syndrome).",Cerebro-Oculo-Facio-Skeletal Syndrome (COFS),0000073,NINDS,http://www.ninds.nih.gov/disorders/cofs/cofs.htm,C0220722,T019,Disorders What are the treatments for Cerebro-Oculo-Facio-Skeletal Syndrome (COFS) ?,0000073-2,treatment,"Treatment is supportive and symptomatic. Individuals with the disorder often require tube feeding. Because COFS is genetic, genetic counseling is available.",Cerebro-Oculo-Facio-Skeletal Syndrome (COFS),0000073,NINDS,http://www.ninds.nih.gov/disorders/cofs/cofs.htm,C0220722,T019,Disorders What is the outlook for Cerebro-Oculo-Facio-Skeletal Syndrome (COFS) ?,0000073-3,outlook,COFS is a fatal disease. Most children do not live beyond five years.,Cerebro-Oculo-Facio-Skeletal Syndrome (COFS),0000073,NINDS,http://www.ninds.nih.gov/disorders/cofs/cofs.htm,C0220722,T019,Disorders what research (or clinical trials) is being done for Cerebro-Oculo-Facio-Skeletal Syndrome (COFS) ?,0000073-4,research,"The NINDS supports research on genetic disorders such as COFS. The goals of this research include finding ways to prevent, treat, and cure these disorders.",Cerebro-Oculo-Facio-Skeletal Syndrome (COFS),0000073,NINDS,http://www.ninds.nih.gov/disorders/cofs/cofs.htm,C0220722,T019,Disorders What is (are) Charcot-Marie-Tooth Disease ?,0000074-1,information,"Charcot-Marie-Tooth disease (CMT) is one of the most common inherited neurological disorders, affecting approximately 1 in 2,500 people in theUnited States. CMT, also known as hereditary motor and sensory neuropathy (HMSN) or peroneal muscular atrophy, comprises a group of disorders caused by mutations in genes that affect the normal function of the peripheral nerves. The peripheral nerves lie outside the brain and spinal cord and supply the muscles and sensory organs in the limbs. A typical feature includes weakness of the foot and lower leg muscles, which may result in foot drop and a high-stepped gait with frequent tripping or falling. Foot deformities, such as high arches and hammertoes (a condition in which the middle joint of a toe bends upwards), are also characteristic due to weakness of the small muscles in the feet. In addition, the lower legs may take on an ""inverted champagne bottle"" appearance due to the loss of muscle bulk. Later in the disease, weakness and muscle atrophy may occur in the hands, resulting in difficulty with fine motor skills. Some individuals experience pain, which can range from mild to severe.",Charcot-Marie-Tooth Disease,0000074,NINDS,http://www.ninds.nih.gov/disorders/charcot_marie_tooth/charcot_marie_tooth.htm,C0007959,T047,Disorders What are the treatments for Charcot-Marie-Tooth Disease ?,0000074-2,treatment,"There is no cure for CMT, but physical therapy, occupational therapy, braces and other orthopedic devices, and orthopedic surgery can help people cope with the disabling symptoms of the disease. In addition, pain-killing drugs can be prescribed for patients who have severe pain.",Charcot-Marie-Tooth Disease,0000074,NINDS,http://www.ninds.nih.gov/disorders/charcot_marie_tooth/charcot_marie_tooth.htm,C0007959,T047,Disorders What is the outlook for Charcot-Marie-Tooth Disease ?,0000074-3,outlook,"Onset of symptoms of CMT is most often in adolescence or early adulthood, however presentation may be delayed until mid-adulthood. Progression of symptoms is very gradual. The degeneration of motor nerves results in muscle weakness and atrophy in the extremities (arms, legs, hands, or feet), and the degeneration of sensory nerves results in a reduced ability to feel heat, cold, and pain. There are many forms of CMT disease. The severity of symptoms may vary greatly among individuals and some people may never realize they have the disorder. CMT is not fatal and people with most forms of CMT have a normal life expectancy.",Charcot-Marie-Tooth Disease,0000074,NINDS,http://www.ninds.nih.gov/disorders/charcot_marie_tooth/charcot_marie_tooth.htm,C0007959,T047,Disorders what research (or clinical trials) is being done for Charcot-Marie-Tooth Disease ?,0000074-4,research,"The National Institute of Neurological Disorders and Stroke (NINDS) conducts CMT research in its laboratories at the National Institutes of Health (NIH) and also supports CMT research through grants to major medical institutions across the country. Ongoing research includes efforts to identify more of the mutant genes and proteins that cause the various disease subtypes. This research includes studies in the laboratory to discover the mechanisms of nerve degeneration and muscle atrophy, and clinical studies to find therapies to slow down or even reverse nerve degeneration and muscle atrophy.",Charcot-Marie-Tooth Disease,0000074,NINDS,http://www.ninds.nih.gov/disorders/charcot_marie_tooth/charcot_marie_tooth.htm,C0007959,T047,Disorders What is (are) Chorea ?,0000075-1,information,"Chorea is an abnormal involuntary movement disorder, one of a group of neurological disorders called dyskinesias, which are caused by overactivity of the neurotransmitter dopamine in the areas of the brain that control movement. Chorea is characterized by brief, irregular contractions that are not repetitive or rhythmic, but appear to flow from one muscle to the next. Chorea often occurs with athetosis, which adds twisting and writhing movements. Chorea is a primary feature of Huntington's disease, a progressive, hereditary movement disorder that appears in adults, but it may also occur in a variety of other conditions. Syndenham's chorea occurs in a small percentage (20 percent) of children and adolescents as a complication of rheumatic fever. Chorea can also be induced by drugs (levodopa, anti-convulsants, and anti-psychotics) metabolic and endocrine disorders, and vascular incidents.",Chorea,0000075,NINDS,http://www.ninds.nih.gov/disorders/chorea/chorea.htm,C0008489,T047,Disorders What are the treatments for Chorea ?,0000075-2,treatment,"There is no standard course of treatment for chorea. Treatment depends on the type of chorea and the associated disease. Treatment for Huntington's disease is supportive, while treatment for Syndenham's chorea usually involves antibiotic drugs to treat the infection, followed by drug therapy to prevent recurrence. Adjusting medication dosages can treat drug-induced chorea. Metabolic and endocrine-related choreas are treated according to the cause(s) of symptoms.",Chorea,0000075,NINDS,http://www.ninds.nih.gov/disorders/chorea/chorea.htm,C0008489,T047,Disorders What is the outlook for Chorea ?,0000075-3,outlook,"The prognosis for individuals with chorea varies depending on the type of chorea and the associated disease. Huntington's disease is a progressive, and ultimately, fatal disease. Syndenham's chorea is treatable and curable.",Chorea,0000075,NINDS,http://www.ninds.nih.gov/disorders/chorea/chorea.htm,C0008489,T047,Disorders what research (or clinical trials) is being done for Chorea ?,0000075-4,research,The NINDS supports research on movement disorders such as chorea. The goals of this research are to increase understanding of these disorders and to find ways to prevent and treat them.,Chorea,0000075,NINDS,http://www.ninds.nih.gov/disorders/chorea/chorea.htm,C0008489,T047,Disorders What is (are) Neuroacanthocytosis ?,0000076-1,information,"Neuroacanthocytosis refers to a group of genetic conditions that are characterized by movement disorders and acanthocytosis (abnormal, spiculated red blood cells). Four syndromes are classified as neuroacanthocytosis: Chorea-acanthocytosis, McLeod syndrome, Huntington's disease-like 2 (HDL2), and panthothenate kinase-associated neurodegeneration (PKAN). Acanthocytosis may not always be observed in HDL2 and PKAN. These disorders are caused by different genetic mutations, and the signs and symptoms vary, but usually include chorea (involuntary, dance-like movements), parkinsonism (slowness of movement), dystonia (abnormal body postures), and problems walking. There may also be muscle weakness, involuntary movements of the face and tongue, tongue/lip biting (which is mostly characteristic of Chorea-acanthocytosis), as well as difficulty with speech and eating, cognitive impairment, psychiatric symptoms, and seizures. Individuals with McLeod syndrome often have cardiac problems. Many features of these disorders are due to degeneration of the basal ganglia, a part of the brain that controls movement. Additional disorders that are also known have neurologic symptoms, acanthocytosis, and either lipoprotein disorders or systemic findings. The diagnosis of neuroacanthocytosis is typically based on the symptoms and clinical observation, a review of family history, and the evaluation of specific laboratory and imaging studies.",Neuroacanthocytosis,0000076,NINDS,http://www.ninds.nih.gov/disorders/neuroacanthocytosis/neuroacanthocytosis.htm,C0393576,T047,Disorders What are the treatments for Neuroacanthocytosis ?,0000076-2,treatment,"There are currently no treatments to prevent or slow the progression of neuroacanthocytosis and treatment is symptomatic and supportive. Medications that block dopamine, such as some of the antipsychotics, may decrease the involuntary movements. Botulinum toxin injections usually improve symptoms of dystonia. A feeding tube may be needed for individuals with feeding difficulties to maintain proper nutrition. Seizures may be treated with a variety of anticonvulsants, and antidepressants may also be appropriate for some individuals. Speech, occupational, and physical therapy may also be beneficial.",Neuroacanthocytosis,0000076,NINDS,http://www.ninds.nih.gov/disorders/neuroacanthocytosis/neuroacanthocytosis.htm,C0393576,T047,Disorders What is the outlook for Neuroacanthocytosis ?,0000076-3,outlook,"Neuroacanthocytosis is a progressive disease, and in some cases may be complicated by poor nutritional status, cardiac abnormalities, and pneumonia.",Neuroacanthocytosis,0000076,NINDS,http://www.ninds.nih.gov/disorders/neuroacanthocytosis/neuroacanthocytosis.htm,C0393576,T047,Disorders what research (or clinical trials) is being done for Neuroacanthocytosis ?,0000076-4,research,"The NINDS supports research on disorders such as neuroacanthocytosis, aimed at increasing scientific understanding of the disorders and finding ways to prevent and treat them. The genetic mutations responsible for some types of neuroacanthocytosis have recently been identified. Researchers are examining the role of the basal ganglia in neuroacanthocytosis and hope to correlate the specific genetic abnormalities with the clinical features of the disease. Other research is aimed at identifying possible causes of sudden death related to heart muscle abnormalities, which are observed in some individuals with neuroacanthocytosis.",Neuroacanthocytosis,0000076,NINDS,http://www.ninds.nih.gov/disorders/neuroacanthocytosis/neuroacanthocytosis.htm,C0393576,T047,Disorders What is (are) Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) ?,0000077-1,information,"Chronic inflammatory demyelinating polyneuropathy (CIDP) is a neurological disorder characterized by progressive weakness and impaired sensory function in the legs and arms. The disorder, which is sometimes called chronic relapsing polyneuropathy, is caused by damage to the myelin sheath (the fatty covering that wraps around and protects nerve fibers) of the peripheral nerves. Although it can occur at any age and in both genders, CIDP is more common in young adults, and in men more so than women. It often presents with symptoms that include tingling or numbness (beginning in the toes and fingers), weakness of the arms and legs, loss of deep tendon reflexes (areflexia), fatigue, and abnormal sensations. CIDP is closely related to Guillain-Barre syndrome and it is considered the chronic counterpart of that acute disease.",Chronic Inflammatory Demyelinating Polyneuropathy (CIDP),0000077,NINDS,http://www.ninds.nih.gov/disorders/cidp/cidp.htm,C0393819,T047,Disorders What are the treatments for Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) ?,0000077-2,treatment,"Treatment for CIDP includes corticosteroids such as prednisone, which may be prescribed alone or in combination with immunosuppressant drugs. Plasmapheresis (plasma exchange) and intravenous immunoglobulin (IVIg) therapy are effective. IVIg may be used even as a first-line therapy. Physiotherapy may improve muscle strength, function and mobility, and minimize the shrinkage of muscles and tendons and distortions of the joints.",Chronic Inflammatory Demyelinating Polyneuropathy (CIDP),0000077,NINDS,http://www.ninds.nih.gov/disorders/cidp/cidp.htm,C0393819,T047,Disorders What is the outlook for Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) ?,0000077-3,outlook,"The course of CIDP varies widely among individuals. Some may have a bout of CIDP followed by spontaneous recovery, while others may have many bouts with partial recovery in between relapses. The disease is a treatable cause of acquired neuropathy and initiation of early treatment to prevent loss of nerve axons is recommended. However, some individuals are left with some residual numbness or weakness.",Chronic Inflammatory Demyelinating Polyneuropathy (CIDP),0000077,NINDS,http://www.ninds.nih.gov/disorders/cidp/cidp.htm,C0393819,T047,Disorders what research (or clinical trials) is being done for Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) ?,0000077-4,research,"The NINDS supports a broad program of research on disorders of the nervous system, including CIDP. Much of this research is aimed at increasing the understanding of these disorders and finding ways to prevent, treat, and cure them.",Chronic Inflammatory Demyelinating Polyneuropathy (CIDP),0000077,NINDS,http://www.ninds.nih.gov/disorders/cidp/cidp.htm,C0393819,T047,Disorders What is (are) Postural Tachycardia Syndrome ?,0000078-1,information,"Postural orthostatic tachycardia syndrome (POTS) is one of a group of disorders that have orthostatic intolerance (OI) as their primary symptom. OI describes a condition in which an excessively reduced volume of blood returns to the heart after an individual stands up from a lying down position. The primary symptom of OI is lightheadedness or fainting. In POTS, the lightheadedness or fainting is also accompanied by a rapid increase in heartbeat of more than 30 beats per minute, or a heart rate that exceeds 120 beats per minute, within 10 minutes of rising. The faintness or lightheadedness of POTS are relieved by lying down again. Anyone at any age can develop POTS, but the majority of individuals affected (between 75 and 80 percent) are women between the ages of 15 to 50 years of age. Some women report an increase in episodes of POTS right before their menstrual periods. POTS often begins after a pregnancy, major surgery, trauma, or a viral illness. It may make individuals unable to exercise because the activity brings on fainting spells or dizziness. Doctors aren't sure yet what causes the reduced return of blood to the heart that occurs in OI, or why the heart begins to beat so rapidly in POTS. Current thinking is that there are a number of mechanisms. Some individuals have peripheral denervation (neuropathic POTS); some have symptoms that are due to sustained or parosyxmal overactivity of the sympathetic nervous system (hyperadrenergic POTS); and many individuals with POTS have significant deconditioning.",Postural Tachycardia Syndrome,0000078,NINDS,http://www.ninds.nih.gov/disorders/postural_tachycardia_syndrome/postural_tachycardia_syndrome.htm,C1299624,T047,Disorders What are the treatments for Postural Tachycardia Syndrome ?,0000078-2,treatment,Therapies for POTS are targeted at relieving low blood volume or regulating circulatory problems that could be causing the disorder. No single treatment has been found to be effect for all. A number of drugs seem to be effective in the short term. Whether they help in long term is uncertain. Simple interventions such as adding extra salt to the diet and attention to adequate fluid intake are often effective. The drugs fludrocortisone (for those on a high salt diet) and midodrine in low doses are often used to increase blood volume and narrow blood vessels. Drinking 16 ounces of water (2 glassfuls) before getting up can also help raise blood pressure. Some individuals are helped by beta receptor blocking agents. There is some evidence that an exercise program can gradually improve orthostatic tolerance.,Postural Tachycardia Syndrome,0000078,NINDS,http://www.ninds.nih.gov/disorders/postural_tachycardia_syndrome/postural_tachycardia_syndrome.htm,C1299624,T047,Disorders What is the outlook for Postural Tachycardia Syndrome ?,0000078-3,outlook,"POTS may follow a relapsing-remitting course, in which symptoms come and go, for years. In most cases (approximately 80 percent), an individual with POTS improves to some degree and becomes functional, although some residual symptoms are common.",Postural Tachycardia Syndrome,0000078,NINDS,http://www.ninds.nih.gov/disorders/postural_tachycardia_syndrome/postural_tachycardia_syndrome.htm,C1299624,T047,Disorders what research (or clinical trials) is being done for Postural Tachycardia Syndrome ?,0000078-4,research,"The National Institute of Neurological Disorders and Stroke (NINDS) and other Institutes of the National Institutes of Health (NIH) conduct research related to POTS and support additional research through grants to major research institutions across the country. Much of this research focuses on finding better ways to prevent, treat, and ultimately cure disorders such as POTS. NINDS-funded researchers are investigating if low levels of the hormone aldosterone contribute to low blood volume in individuals with POTS, and if high levels of angiotensin II, a peptide that helps regulate blood volume, leads to decreased adrenal sensitivity. Other NINDS-funded research is investigating the hypothesis that POTS is a syndrome of different subtypes, with different underlying mechanisms. Additionally, the NINDS funds the Autonomic Rare Diseases Consortium to further understand disorders such as orthostatic hypotension and hopefully alter the course of disease.",Postural Tachycardia Syndrome,0000078,NINDS,http://www.ninds.nih.gov/disorders/postural_tachycardia_syndrome/postural_tachycardia_syndrome.htm,C1299624,T047,Disorders What is (are) Chronic Pain ?,0000079-1,information,"While acute pain is a normal sensation triggered in the nervous system to alert you to possible injury and the need to take care of yourself, chronic pain is different. Chronic pain persists. Pain signals keep firing in the nervous system for weeks, months, even years. There may have been an initial mishap -- sprained back, serious infection, or there may be an ongoing cause of pain -- arthritis, cancer, ear infection, but some people suffer chronic pain in the absence of any past injury or evidence of body damage. Many chronic pain conditions affect older adults. Common chronic pain complaints include headache, low back pain, cancer pain, arthritis pain, neurogenic pain (pain resulting from damage to the peripheral nerves or to the central nervous system itself), psychogenic pain (pain not due to past disease or injury or any visible sign of damage inside or outside the nervous system). A person may have two or more co-existing chronic pain conditions. Such conditions can include chronic fatigue syndrome, endometriosis, fibromyalgia, inflammatory bowel disease, interstitial cystitis, temporomandibular joint dysfunction, and vulvodynia. It is not known whether these disorders share a common cause.",Chronic Pain,0000079,NINDS,http://www.ninds.nih.gov/disorders/chronic_pain/chronic_pain.htm,C0150055,T047,Disorders What are the treatments for Chronic Pain ?,0000079-2,treatment,"Medications, acupuncture, local electrical stimulation, and brain stimulation, as well as surgery, are some treatments for chronic pain. Some physicians use placebos, which in some cases has resulted in a lessening or elimination of pain. Psychotherapy, relaxation and medication therapies, biofeedback, and behavior modification may also be employed to treat chronic pain.",Chronic Pain,0000079,NINDS,http://www.ninds.nih.gov/disorders/chronic_pain/chronic_pain.htm,C0150055,T047,Disorders What is the outlook for Chronic Pain ?,0000079-3,outlook,Many people with chronic pain can be helped if they understand all the causes of pain and the many and varied steps that can be taken to undo what chronic pain has done. Scientists believe that advances in neuroscience will lead to more and better treatments for chronic pain in the years to come.,Chronic Pain,0000079,NINDS,http://www.ninds.nih.gov/disorders/chronic_pain/chronic_pain.htm,C0150055,T047,Disorders what research (or clinical trials) is being done for Chronic Pain ?,0000079-4,research,"Clinical investigators have tested chronic pain patients and found that they often have lower-than-normal levels of endorphins in their spinal fluid. Investigations of acupuncture include wiring the needles to stimulate nerve endings electrically (electroacupuncture), which some researchers believe activates endorphin systems. Other experiments with acupuncture have shown that there are higher levels of endorphins in cerebrospinal fluid following acupuncture. Investigators are studying the effect of stress on the experience of chronic pain. Chemists are synthesizing new analgesics and discovering painkilling virtues in drugs not normally prescribed for pain.",Chronic Pain,0000079,NINDS,http://www.ninds.nih.gov/disorders/chronic_pain/chronic_pain.htm,C0150055,T047,Disorders What is (are) Coffin Lowry Syndrome ?,0000080-1,information,"Coffin-Lowry syndrome is a rare genetic disorder characterized by craniofacial (head and facial) and skeletal abnormalities, delayed intellectual development, short stature, and hypotonia. Characteristic facial features may include an underdeveloped upper jaw bone (maxillary hypoplasia), a broad nose, protruding nostrils (nares), an abnormally prominent brow, down-slanting eyelid folds (palpebral fissures), widely spaced eyes (hypertelorism), large low-set ears, and unusually thick eyebrows. Skeletal abnormalities may include abnormal front-to-back and side-to-side curvature of the spine (kyphoscoliosis), unusual prominence of the breastbone (pigeon chest, or pectus carinatum), dental abnormalities, and short, hyperextensible, tapered fingers. Other features may include feeding and respiratory problems, developmental delay, hearing impairment, awkward gait, stimulus-induced drop episodes, and heart and kidney involvement. The disorder affects males and females in equal numbers, but symptoms are usually more severe in males. The disorder is caused by a defective gene, RSK2, which is found in 1996 on the X chromosome (Xp22.2-p22.1). Thus, the syndrome is typically more severe in males because males have only one X chromosome, while females have two. It is unclear how changes (mutations) in the DNA structure of the gene lead to the clinical findings.",Coffin Lowry Syndrome,0000080,NINDS,http://www.ninds.nih.gov/disorders/coffin_lowry/coffin_lowry.htm,C0039082,T047,Disorders What are the treatments for Coffin Lowry Syndrome ?,0000080-2,treatment,"There is no cure and no standard course of treatment for Coffin-Lowry syndrome. Treatment is symptomatic and supportive, and may include physical and speech therapy and educational services.",Coffin Lowry Syndrome,0000080,NINDS,http://www.ninds.nih.gov/disorders/coffin_lowry/coffin_lowry.htm,C0039082,T047,Disorders What is the outlook for Coffin Lowry Syndrome ?,0000080-3,outlook,The prognosis for individuals with Coffin-Lowry syndrome varies depending on the severity of symptoms. Early intervention may improve the outlook for patients. Life span is reduced in some individuals with Coffin-Lowry syndrome.,Coffin Lowry Syndrome,0000080,NINDS,http://www.ninds.nih.gov/disorders/coffin_lowry/coffin_lowry.htm,C0039082,T047,Disorders what research (or clinical trials) is being done for Coffin Lowry Syndrome ?,0000080-4,research,"The NINDS supports and conducts research on genetic disorders, such as Coffin-Lowry syndrome, in an effort to find ways to prevent, treat, and ultimately cure these disorders.",Coffin Lowry Syndrome,0000080,NINDS,http://www.ninds.nih.gov/disorders/coffin_lowry/coffin_lowry.htm,C0039082,T047,Disorders What is (are) Colpocephaly ?,0000081-1,information,"Colpocephaly is a congenital brain abnormality in which the occipital horns - the posterior or rear portion of the lateral ventricles (cavities) of the brain -- are larger than normal because white matter in the posterior cerebrum has failed to develop or thicken. Colpocephaly, one of a group of structural brain disorders known as cephalic disorders, is characterized by microcephaly (an abnormally small head) and impaired intellect. Other features may include movement abnormalities, muscle spasms, and seizures. Although the cause of colpocephaly is unknown, researchers believe that the disorder results from some kind of disturbance in the fetal environment that occurs between the second and sixth months of pregnancy. Colpocephaly may be diagnosed late in pregnancy, although it is often misdiagnosed as hydrocephalus (excessive accumulation of cerebrospinal fluid in the brain). It may be more accurately diagnosed after birth when signs of impaired intellect, microcephaly, and seizures are present.",Colpocephaly,0000081,NINDS,http://www.ninds.nih.gov/disorders/colpocephaly/Colpocephaly.htm,C0431384,T019,Disorders What are the treatments for Colpocephaly ?,0000081-2,treatment,"There is no definitive treatment for colpocephaly. Anticonvulsant medications are often prescribed to prevent seizures, and doctors rely on exercise therapies and orthopedic appliances to reduce shrinkage or shortening of muscles.",Colpocephaly,0000081,NINDS,http://www.ninds.nih.gov/disorders/colpocephaly/Colpocephaly.htm,C0431384,T019,Disorders What is the outlook for Colpocephaly ?,0000081-3,outlook,The prognosis for individuals with colpocephaly depends on the severity of the associated conditions and the degree of abnormal brain development. Some children benefit from special education.,Colpocephaly,0000081,NINDS,http://www.ninds.nih.gov/disorders/colpocephaly/Colpocephaly.htm,C0431384,T019,Disorders what research (or clinical trials) is being done for Colpocephaly ?,0000081-4,research,"The National Institute of Neurological Disorders and Stroke (NINDS), and other institutes of the National Institutes of Health (NIH), conduct research related to colpocephaly and other cephalic disorders in laboratories at the NIH, and also support additional research through grants to major medical institutions across the country. Much of this research focuses on finding ways to prevent brain abnormalities such as colpocephaly.",Colpocephaly,0000081,NINDS,http://www.ninds.nih.gov/disorders/colpocephaly/Colpocephaly.htm,C0431384,T019,Disorders What is (are) Coma ?,0000082-1,information,"A coma, sometimes also called persistent vegetative state, is a profound or deep state of unconsciousness. Persistent vegetative state is not brain-death. An individual in a state of coma is alive but unable to move or respond to his or her environment. Coma may occur as a complication of an underlying illness, or as a result of injuries, such as head trauma. . Individuals in such a state have lost their thinking abilities and awareness of their surroundings, but retain non-cognitive function and normal sleep patterns. Even though those in a persistent vegetative state lose their higher brain functions, other key functions such as breathing and circulation remain relatively intact. Spontaneous movements may occur, and the eyes may open in response to external stimuli. Individuals may even occasionally grimace, cry, or laugh. Although individuals in a persistent vegetative state may appear somewhat normal, they do not speak and they are unable to respond to commands.",Coma,0000082,NINDS,http://www.ninds.nih.gov/disorders/coma/coma.htm,C0543874,T019,Disorders What are the treatments for Coma ?,0000082-2,treatment,"Once an individual is out of immediate danger, the medical care team focuses on preventing infections and maintaining a healthy physical state. This will often include preventing pneumonia and bedsores and providing balanced nutrition. Physical therapy may also be used to prevent contractures (permanent muscular contractions) and deformities of the bones, joints, and muscles that would limit recovery for those who emerge from coma.",Coma,0000082,NINDS,http://www.ninds.nih.gov/disorders/coma/coma.htm,C0543874,T019,Disorders What is the outlook for Coma ?,0000082-3,outlook,"The outcome for coma and persistent vegetative state depends on the cause, severity, and site of neurological damage. Individuals may emerge from coma with a combination of physical, intellectual, and psychological difficulties that need special attention. Recovery usually occurs gradually, with some acquiring more and more ability to respond. Some individuals never progress beyond very basic responses, but many recover full awareness. Individuals recovering from coma require close medical supervision. A coma rarely lasts more than 2 to 4 weeks. Some patients may regain a degree of awareness after persistent vegetative state. Others may remain in that state for years or even decades. The most common cause of death for someone in a persistent vegetative state is infection, such as pneumonia.",Coma,0000082,NINDS,http://www.ninds.nih.gov/disorders/coma/coma.htm,C0543874,T019,Disorders what research (or clinical trials) is being done for Coma ?,0000082-4,research,The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research related to coma in their laboratories at the NIH and also support additional research through grants to major medical institutions across the country. Much of this research focuses on finding better ways to prevent and treat coma.,Coma,0000082,NINDS,http://www.ninds.nih.gov/disorders/coma/coma.htm,C0543874,T019,Disorders What is (are) Moebius Syndrome ?,0000083-1,information,"Moebius syndrome is a rare birth defect caused by the absence or underdevelopment of the 6th and 7th cranial nerves, which control eye movements and facial expression. Many of the other cranial nerves may also be affected, including the 3rd, 5th, 8th, 9th, 11th and 12th. The first symptom, present at birth, is an inability to suck. Other symptoms can include: feeding, swallowing, and choking problems; excessive drooling; crossed eyes; lack of facial expression; inability to smile; eye sensitivity; motor delays; high or cleft palate; hearing problems and speech difficulties. Children with Moebius syndrome are unable to move their eyes back and forth. Decreased numbers of muscle fibers have been reported. Deformities of the tongue, jaw, and limbs, such as clubfoot and missing or webbed fingers, may also occur. As children get older, lack of facial expression and inability to smile become the dominant visible symptoms. Approximately 30 to 40 percent of children with Moebius syndrome have some degree of autism. There are four recognized categories of Moebius syndrome: - Group I, characterized by small or absent brain stem nuclei that control the cranial nerves; - Group II, characterized by loss and degeneration of neurons in the facial peripheral nerve; - Group III, characterized by loss and degeneration of neurons and other brain cells, microscopic areas of damage, and hardened tissue in the brainstem nuclei, and, - Group IV, characterized by muscular symptoms in spite of a lack of lesions in the cranial nerve.",Moebius Syndrome,0000083,NINDS,http://www.ninds.nih.gov/disorders/mobius/moebius.htm,C0221060,T019,Disorders What are the treatments for Moebius Syndrome ?,0000083-2,treatment,"There is no specific course of treatment for Moebius syndrome. Treatment is supportive and in accordance with symptoms. Infants may require feeding tubes or special bottles to maintain sufficient nutrition. Surgery may correct crossed eyes and improve limb and jaw deformities. Physical and speech therapy often improves motor skills and coordination, and leads to better control of speaking and eating abilities. Plastic reconstructive surgery may be beneficial in some individuals. Nerve and muscle transfers to the corners of the mouth have been performed to provide limited ability to smile.",Moebius Syndrome,0000083,NINDS,http://www.ninds.nih.gov/disorders/mobius/moebius.htm,C0221060,T019,Disorders What is the outlook for Moebius Syndrome ?,0000083-3,outlook,"There is no cure for Moebius syndrome. In spite of the impairments that characterize the disorder, proper care and treatment give many individuals a normal life expectancy.",Moebius Syndrome,0000083,NINDS,http://www.ninds.nih.gov/disorders/mobius/moebius.htm,C0221060,T019,Disorders what research (or clinical trials) is being done for Moebius Syndrome ?,0000083-4,research,"The NINDS conducts and supports a broad range of research on neurogenetic disorders, including Moebius syndrome. The goals of these studies are to develop improved techniques to diagnose, treat, and eventually cure these disorders.",Moebius Syndrome,0000083,NINDS,http://www.ninds.nih.gov/disorders/mobius/moebius.htm,C0221060,T019,Disorders What is (are) Congenital Myasthenia ?,0000084-1,information,"All forms of myasthenia are due to problems in the communication between nerve cells and muscles. Most involve the activities of neurotransmitters. Neurotransmitters are chemicals that allow neurons to relay information from one cell to the next. For neurotransmitters to be effective, the nerve cell must release the neurotransmitter properly, and the muscle cell must be able to detect the neurotransmitter and respond to its signal properly. The most common type of myasthenia, myasthenia gravis, is caused by an abnormal immune response in which antibodies block the ability of the muscle to detect the neurotransmitter. Congenital myasthenia, however, differs from myasthenia gravis because the disrupted communication isn't caused by antibodies, but by genetic defects. There are several different subtypes of congenital myasthenia, each the result of a specific genetic mutation. Since all types of myasthenia are due to the inability of nerves to trigger muscle activity, they all involve weakness, although there is some variability in the specific muscles affected. Symptoms of congenital myasthenia usually appear in the first few years of childhood, but may not be noticeable until much later, occasionally remaining unrecognized until adulthood. If the symptoms begin in infancy, they usually appear as ""floppiness"" and a failure to meet developmental milestones, such as rolling over or sitting up. Some infants may also have episodes of choking or pauses in breathing. If the symptoms begin in toddlers or preschool children, they appear as weakness during physical activities or an inability to perform age-appropriate actions, such as running or climbing. In addition, if eye muscles are involved, children may have droopy eyelids, ""lazy eye,"" or double vision. If mouth or throat muscles are involved, children may have difficulty speaking or swallowing. An important characteristic of myasthenia is that the weakness worsens during continuous activity, with strength returning, at least partially, after resting. Congenital myasthenia is an inherited (genetic) disorder. All but one known subtype are recessive disorders, which means that a child will have to have two copies of the abnormal gene (one from each parent) in order to develop the disease. To diagnose congenital myasthenia, a neurologist will test various muscles to determine if they grow weaker with repeated activity. The doctor will also test the electrical activity of nerves and muscles using electromyography (EMG) and nerve conduction tests (NCS). Blood tests are often used to determine if antibodies could be causing the symptoms. Genetic tests may be ordered.",Congenital Myasthenia,0000084,NINDS,http://www.ninds.nih.gov/disorders/congenital_myasthenia/congenital_myasthenia.htm,C0751882,T047,Disorders What are the treatments for Congenital Myasthenia ?,0000084-2,treatment,"The possibilities for treatment depend on the specific subtype of congenital myasthenia. Most treatments attempt to improve the signaling between nerve cell and muscle. These drugs include pyridostigmine, fluoxetine, ephedrine, and 3,4-diaminopyridine. Treatments to alter the immune system are not used for this form of myasthenia. There are no treatments to cure the underlying genetic abnormality.",Congenital Myasthenia,0000084,NINDS,http://www.ninds.nih.gov/disorders/congenital_myasthenia/congenital_myasthenia.htm,C0751882,T047,Disorders What is the outlook for Congenital Myasthenia ?,0000084-3,outlook,"The prognosis depends on the specific subtype of congenital myasthenia, the muscles involved, and the age at onset of symptoms. If a child has difficulty breathing, feeding, or swallowing, they may be vulnerable to pneumonia or respiratory failure. In other cases, weakness is stable and does not worsen over time. In one subtype, weakness improves with time. Life-span is normal in most cases in which respiratory function is not compromised.",Congenital Myasthenia,0000084,NINDS,http://www.ninds.nih.gov/disorders/congenital_myasthenia/congenital_myasthenia.htm,C0751882,T047,Disorders what research (or clinical trials) is being done for Congenital Myasthenia ?,0000084-4,research,"The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) support research related to congenital myasthenia through grants to major research institutions across the country. Much of this research focuses on finding better ways to prevent, treat and ultimately cure disorders such as congenital myasthenia.",Congenital Myasthenia,0000084,NINDS,http://www.ninds.nih.gov/disorders/congenital_myasthenia/congenital_myasthenia.htm,C0751882,T047,Disorders What is (are) Congenital Myopathy ?,0000085-1,information,"A myopathy is a disorder of the muscles that usually results in weakness. Congenital myopathy refers to a group of muscle disorders that appear at birth or in infancy. Typically, an infant with a congenital myopathy will be ""floppy,"" have difficulty breathing or feeding, and will lag behind other babies in meeting normal developmental milestones such as turning over or sitting up. Muscle weakness can occur for many reasons, including a problem with the muscle, a problem with the nerve that stimulates the muscle, or a problem with the brain. Therefore, to diagnose a congenital myopathy, a neurologist will perform a detailed physical exam as well as tests to determine the cause of weakness. If a myopathy is suspected, possible tests include a blood test for a muscle enzyme called creatine kinase, an electromyogram (EMG) to evaluate the electrical activity of the muscle, a muscle biopsy, and genetic testing. There are currently seven distinct types of congenital myopathy, with some variation in symptoms, complications, treatment options, and outlook. Nemaline myopathy is the most common congenital myopathy. Infants usually have problems with breathing and feeding. Later, some skeletal problems may arise, such as scoliosis (curvature of the spine). In general, the weakness does not worsen during life. Myotubular myopathy is rare and only affects boys. Weakness and floppiness are so severe that a mother may notice reduced movements of the baby in her womb during pregnancy. There are usually significant breathing and swallowing difficulties; many children do not survive infancy. Osteopenia (weakening of the bones) is also associated with this disorder. Centronuclear myopathy is rare and begins in infancy or early childhood with weakness of the arms and legs, droopy eyelids, and problems with eye movements. Weakness often gets worse with time. Central core disease varies among children with regard to the severity of problems and the degree of worsening over time. Usually, there is mild floppiness in infancy, delayed milestones, and moderate limb weakness, which do not worsen much over time. Children with central core disease may have life-threatening reactions to general anesthesia. Treatment with the drug salbutamol has been shown to reduce weakness significantly, although it does not cure the disorder. Multi-minicore disease has several different subtypes. Common to most is severe weakness of the limbs and scoliosis. Often breathing difficulties occur as well. Some children have weakened eye movements. Congenital fiber-type disproportion myopathy is a rare disorder that begins with floppiness, limb and facial weakness, and breathing problems. Hyaline body myopathy is a disorder characterized by the specific appearance under the microscope of a sample of muscle tissue. It probably includes several different causes. Because of this, the symptoms are quite variable.",Congenital Myopathy,0000085,NINDS,http://www.ninds.nih.gov/disorders/myopathy_congenital/myopathy_congenital.htm,C0270960,T019,Disorders What are the treatments for Congenital Myopathy ?,0000085-2,treatment,"Currently, only central core disease has an effective treatment (see above). There are no known cures for any of these disorders. Supportive treatment may involve orthopedic treatments, as well as physical, occupational or speech therapy.",Congenital Myopathy,0000085,NINDS,http://www.ninds.nih.gov/disorders/myopathy_congenital/myopathy_congenital.htm,C0270960,T019,Disorders What is the outlook for Congenital Myopathy ?,0000085-3,outlook,"When breathing difficulties are severe, and particularly if there is also a problem with feeding and swallowing, infants may die of respiratory failure or complications such as pneumonia. Sometimes muscle weakness can lead to skeletal problems, such as scoliosis, reduced mobility of joints, or hip problems. The heart muscle is rarely involved.",Congenital Myopathy,0000085,NINDS,http://www.ninds.nih.gov/disorders/myopathy_congenital/myopathy_congenital.htm,C0270960,T019,Disorders what research (or clinical trials) is being done for Congenital Myopathy ?,0000085-4,research,"The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research related to congenital myopathies in their laboratories at the NIH and also support additional research through grants to major medical institutions across the country. Much of this research focuses on finding better ways to prevent, treat, and ultimately cure the disorders that make up the congenital myopathies.",Congenital Myopathy,0000085,NINDS,http://www.ninds.nih.gov/disorders/myopathy_congenital/myopathy_congenital.htm,C0270960,T019,Disorders What is (are) Corticobasal Degeneration ?,0000086-1,information,"Corticobasal degeneration is a progressive neurological disorder characterized by nerve cell loss and atrophy (shrinkage) of multiple areas of the brain including the cerebral cortex and the basal ganglia. Corticobasal degeneration progresses gradually. Initial symptoms, which typically begin at or around age 60, may first appear on one side of the body (unilateral), but eventually affect both sides as the disease progresses. Symptoms are similar to those found in Parkinson disease, such as poor coordination, akinesia (an absence of movements), rigidity (a resistance to imposed movement), disequilibrium (impaired balance); and limb dystonia (abnormal muscle postures). Other symptoms such as cognitive and visual-spatial impairments, apraxia (loss of the ability to make familiar, purposeful movements), hesitant and halting speech, myoclonus (muscular jerks), and dysphagia (difficulty swallowing) may also occur. An individual with corticobasal degeneration eventually becomes unable to walk.",Corticobasal Degeneration,0000086,NINDS,http://www.ninds.nih.gov/disorders/corticobasal_degeneration/corticobasal_degeneration.htm,C0393570,T047,Disorders What are the treatments for Corticobasal Degeneration ?,0000086-2,treatment,"There is no treatment available to slow the course of corticobasal degeneration, and the symptoms of the disease are generally resistant to therapy. Drugs used to treat Parkinson disease-type symptoms do not produce any significant or sustained improvement. Clonazepam may help the myoclonus. Occupational, physical, and speech therapy can help in managing disability.",Corticobasal Degeneration,0000086,NINDS,http://www.ninds.nih.gov/disorders/corticobasal_degeneration/corticobasal_degeneration.htm,C0393570,T047,Disorders What is the outlook for Corticobasal Degeneration ?,0000086-3,outlook,Corticobasal degeneration usually progresses slowly over the course of 6 to 8 years. Death is generally caused by pneumonia or other complications of severe debility such as sepsis or pulmonary embolism.,Corticobasal Degeneration,0000086,NINDS,http://www.ninds.nih.gov/disorders/corticobasal_degeneration/corticobasal_degeneration.htm,C0393570,T047,Disorders what research (or clinical trials) is being done for Corticobasal Degeneration ?,0000086-4,research,"The NINDS supports and conducts research studies on degenerative disorders such as corticobasal degeneration. The goals of these studies are to increase scientific understanding of these disorders and to find ways to prevent, treat, and cure them.",Corticobasal Degeneration,0000086,NINDS,http://www.ninds.nih.gov/disorders/corticobasal_degeneration/corticobasal_degeneration.htm,C0393570,T047,Disorders What is (are) Vasculitis Syndromes of the Central and Peripheral Nervous Systems ?,0000087-1,information,"Vasculitis is an inflammation of blood vessels, which includes the veins, arteries, and capillaries. Inflammation occurs with infection or is thought to be due to a faulty immune system response. It also can be caused by other immune system disease, an allergic reaction to medicines or toxins, and by certain blood cancers. Vasculitic disorders can cause problems in any organ system, including the central (CNS) and peripheral (PNS) nervous systems. Vasculitis disorders, or syndromes, of the CNS and PNS are characterized by the presence of inflammatory cells in and around blood vessels, and secondary narrowing or blockage of the blood vessels that nourish the brain, spinal cord, or peripheral nerves. A vasculitic syndrome may begin suddenly or develop over time. Symptoms include headaches, especially a headache that doesnt go away; fever, rapid weight loss; confusion or forgetfulness leading to dementia; swelling of the brain, pain while chewing or swallowing; paralysis or numbness, usually in the arms or legs; and visual disturbances, such as double vision, blurred vision, or blindness Some of the better understood vasculitis syndromes are temporal arteritis (also called giant cell arteritis or cranial arteritis--a chronic inflammatory disorder of large blood vessels) and Takayasus disease, which affects larger aortas and may cause stoke.",Vasculitis Syndromes of the Central and Peripheral Nervous Systems,0000087,NINDS,http://www.ninds.nih.gov/disorders/vasculitis/vasculitis.htm,C1963274,T047,Disorders What are the treatments for Vasculitis Syndromes of the Central and Peripheral Nervous Systems ?,0000087-2,treatment,"Treatment for a vasculitis syndrome depends upon the specific diagnosis, which can be difficult, as some diseases have similar symptoms of vasculitis. Most of the syndromes respond well to steroid drugs, such as prednisolone. Some may also require treatment with an immunosuppressive drug, such as cyclophosphamide. Aneurysms involved with vasculitis can be treated surgfically.",Vasculitis Syndromes of the Central and Peripheral Nervous Systems,0000087,NINDS,http://www.ninds.nih.gov/disorders/vasculitis/vasculitis.htm,C1963274,T047,Disorders What is the outlook for Vasculitis Syndromes of the Central and Peripheral Nervous Systems ?,0000087-3,outlook,"The prognosis is dependent upon the specific syndrome, however, some of the syndromes are fatal if left untreated.",Vasculitis Syndromes of the Central and Peripheral Nervous Systems,0000087,NINDS,http://www.ninds.nih.gov/disorders/vasculitis/vasculitis.htm,C1963274,T047,Disorders what research (or clinical trials) is being done for Vasculitis Syndromes of the Central and Peripheral Nervous Systems ?,0000087-4,research,"The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge of the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. Several NINDS-funded investigators are studying blood vessel damage and cerebral blood flow as it relates to stroke. The NINDS also funds research on vascular cognitive impairment, which is an important contributor to aging-related cognitive decline and is the result of impaired performance of the brain's small blood vessels. Additionally, the NINDS and other institutes of the National Institutes of Health (NIH) conduct research relating to vasculitis syndromes in laboratories at the NIH and also support vasculitis research through grants to major medical institutions across the country. The NINDS supports The Vasculitis Clinical Research Consortium (VCRC), a network of academic medical centers, patient support organizations, and clinical research resources dedicated to conducting clinical research and improving the care of individuals with various vasculitis disorders.",Vasculitis Syndromes of the Central and Peripheral Nervous Systems,0000087,NINDS,http://www.ninds.nih.gov/disorders/vasculitis/vasculitis.htm,C1963274,T047,Disorders What is (are) Craniosynostosis ?,0000088-1,information,"Craniosynostosis is a birth defect of the skull characterized by the premature closure of one or more of the fibrous joints between the bones of the skull (called the cranial sutures) before brain growth is complete. Closure of a single suture is most common. Normally the skull expands uniformly to accommodate the growth of the brain; premature closure of a single suture restricts the growth in that part of the skull and promotes growth in other parts of the skull where sutures remain open. This results in a misshapen skull but does not prevent the brain from expanding to a normal volume. However, when many sutures close prematurely, the skull cannot expand to accommodate the growing brain, which leads to increased pressure within the skull and impaired development of the brain. Craniosynostosis can be gene-linked or caused by metabolic diseases (such as rickets )or an overactive thyroid. Some cases are associated with other disorders such as microcephaly (abnormally small head) and hydrocephalus (excessive accumulation of cerebrospinal fluid in the brain). The first sign of craniosynostosis is an abnormally shaped skull. Other features can include signs of increased intracranial pressure, developmental delays, or impaired cognitive development, which are caused by constriction of the growing brain. Seizures and blindness may also occur.",Craniosynostosis,0000088,NINDS,http://www.ninds.nih.gov/disorders/craniosynostosis/craniosynostosis.htm,C0010278,T019,Disorders What are the treatments for Craniosynostosis ?,0000088-2,treatment,"Treatment for craniosynostosis generally consists of surgery to improve the symmetry and appearance of the head and to relieve pressure on the brain and the cranial nerves. For some children with less severe problems, cranial molds can reshape the skull to accommodate brain growth and improve the appearance of the head.",Craniosynostosis,0000088,NINDS,http://www.ninds.nih.gov/disorders/craniosynostosis/craniosynostosis.htm,C0010278,T019,Disorders What is the outlook for Craniosynostosis ?,0000088-3,outlook,The prognosis for craniosynostosis varies depending on whether single or multiple cranial sutures are involved or other abnormalities are present. The prognosis is better for those with single suture involvement and no associated abnormalities.,Craniosynostosis,0000088,NINDS,http://www.ninds.nih.gov/disorders/craniosynostosis/craniosynostosis.htm,C0010278,T019,Disorders what research (or clinical trials) is being done for Craniosynostosis ?,0000088-4,research,"The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system, and to use that knowledge to reduce the burden of neurological disease. The NINDS conducts and supports a wide range of studies that explore the complex mechanisms of brain development. The knowledge gained from these fundamental studies provides the foundation for understanding how this process can change and offers hope for new ways to treat and prevent birth defects that can prevent normal brain development, such as craniosynostosis.",Craniosynostosis,0000088,NINDS,http://www.ninds.nih.gov/disorders/craniosynostosis/craniosynostosis.htm,C0010278,T019,Disorders What is (are) Creutzfeldt-Jakob Disease ?,0000089-1,information,"Creutzfeldt-Jakob disease (CJD) is a rare, degenerative,fatal brain disorder. Typically, onset of symptoms occurs at about age 60. There are three major categories of CJD: sporadic (the most common form, in which people do not have any risk factors for the disease); hereditary (in which the person has a family member with the disease and tests positive for a genetic mutation), and acquired (in which the disease is transmitted by exposure to brain and nervous system tissue, usually through certain medical procedures. A form called variant CJD can be acquired by eating meat from cattle affected by a disease similar to CJD, called bovine spongiform encephalopathy (commonly called mad cow disease). Symptoms of CJD include problems with muscular coordination, personality changes including progressive and severe mental impairment, impaired vision that may lead to blindness, and involuntary muscle jerks called myoclonus. People eventually lose the ability to move and speak and enter a coma. Tests that help in the diagnosis of CJD include electroencephalography (which measures brain waves), detection of certain proteins in the fluid that surrounds the brain and spinal cord, and magnetic resonance imaging.. The first concern is to rule out treatable forms of dementia such as encephalitis or chronic meningitis. The only way to confirm a diagnosis of CJD is by brain biopsy or autopsy. In a brain biopsy, a neurosurgeon removes a small piece of tissue from the person's brain so that it can be examined by a neurologist. Because a correct diagnosis of CJD does not help the individual, a brain biopsy is discouraged unless it is need to rule out a treatable disorder. .",Creutzfeldt-Jakob Disease,0000089,NINDS,http://www.ninds.nih.gov/disorders/cjd/cjd.htm,C0022336,T047,Disorders What are the treatments for Creutzfeldt-Jakob Disease ?,0000089-2,treatment,"There is no treatment that can cure or control CJD, although studies of a variety of drugs are now in progress. Current treatment is aimed at alleviating symptoms and making the person as comfortable as possible. Opiate drugs can help relieve pain, and the drugs clonazepam and sodium valproate may help relieve involuntary muscle jerks.Intravenous fluids and artificial feeding may be needed in later stages of the disease.",Creutzfeldt-Jakob Disease,0000089,NINDS,http://www.ninds.nih.gov/disorders/cjd/cjd.htm,C0022336,T047,Disorders What is the outlook for Creutzfeldt-Jakob Disease ?,0000089-3,outlook,"About 70 percent of individuals die within one year. In the early stages of disease, people may have failing memory, behavioral changes, lack of coordination and visual disturbances. As the illness progresses, mental deterioration becomes pronounced and involuntary movements, blindness, weakness of extremities, and coma may occur.",Creutzfeldt-Jakob Disease,0000089,NINDS,http://www.ninds.nih.gov/disorders/cjd/cjd.htm,C0022336,T047,Disorders what research (or clinical trials) is being done for Creutzfeldt-Jakob Disease ?,0000089-4,research,"The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system, and to use that knowledge to reduce the burden of neurological disease. The leading scientific theory at this time maintains that CJD is caused by a type of protein called a prion. The harmless and the infectious forms of the prion protein are nearly identical, but the infectious form takes a different folded shape than the normal protein. Researchers are trying to discover factors that influence prion infectivity and how the disorder damages the brain. Using rodent models of the disease and brain tissue from autopsies, researchers are also trying to develop improved diagnostic tests for CJD and to learn what changes ultimately kill the neurons so that effective treatments can be developed.",Creutzfeldt-Jakob Disease,0000089,NINDS,http://www.ninds.nih.gov/disorders/cjd/cjd.htm,C0022336,T047,Disorders What is (are) Repetitive Motion Disorders ?,0000090-1,information,"Repetitive motion disorders (RMDs) are a family of muscular conditions that result from repeated motions performed in the course of normal work or daily activities. RMDs include carpal tunnel syndrome, bursitis, tendonitis, epicondylitis, ganglion cyst, tenosynovitis, and trigger finger. RMDs are caused by too many uninterrupted repetitions of an activity or motion, unnatural or awkward motions such as twisting the arm or wrist, overexertion, incorrect posture, or muscle fatigue. RMDs occur most commonly in the hands, wrists, elbows, and shoulders, but can also happen in the neck, back, hips, knees, feet, legs, and ankles. The disorders are characterized by pain, tingling, numbness, visible swelling or redness of the affected area, and the loss of flexibility and strength. For some individuals, there may be no visible sign of injury, although they may find it hard to perform easy tasks Over time, RMDs can cause temporary or permanent damage to the soft tissues in the body -- such as the muscles, nerves, tendons, and ligaments - and compression of nerves or tissue. Generally, RMDs affect individuals who perform repetitive tasks such as assembly line work, meatpacking, sewing, playing musical instruments, and computer work. The disorders may also affect individuals who engage in activities such as carpentry, gardening, and tennis.",Repetitive Motion Disorders,0000090,NINDS,http://www.ninds.nih.gov/disorders/repetitive_motion/repetitive_motion.htm,C0035127,T047,Disorders What are the treatments for Repetitive Motion Disorders ?,0000090-2,treatment,"Treatment for RMDs usually includes reducing or stopping the motions that cause symptoms. Options include taking breaks to give the affected area time to rest, and adopting stretching and relaxation exercises. Applying ice to the affected area and using medications such as pain relievers, cortisone, and anti-inflammatory drugs can reduce pain and swelling. Splints may be able to relieve pressure on the muscles and nerves. Physical therapy may relieve the soreness and pain in the muscles and joints. In rare cases, surgery may be required to relieve symptoms and prevent permanent damage. Some employers have developed ergonomic programs to help workers adjust their pace of work and arrange office equipment to minimize problems.",Repetitive Motion Disorders,0000090,NINDS,http://www.ninds.nih.gov/disorders/repetitive_motion/repetitive_motion.htm,C0035127,T047,Disorders What is the outlook for Repetitive Motion Disorders ?,0000090-3,outlook,"Most individuals with RMDs recover completely and can avoid re-injury by changing the way they perform repetitive movements, the frequency with which they perform them, and the amount of time they rest between movements. Without treatment, RMDs may result in permanent injury and complete loss of function in the affected area.",Repetitive Motion Disorders,0000090,NINDS,http://www.ninds.nih.gov/disorders/repetitive_motion/repetitive_motion.htm,C0035127,T047,Disorders what research (or clinical trials) is being done for Repetitive Motion Disorders ?,0000090-4,research,Much of the on-going research on RMDs is aimed at prevention and rehabilitation. The National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) funds research on RMDs.,Repetitive Motion Disorders,0000090,NINDS,http://www.ninds.nih.gov/disorders/repetitive_motion/repetitive_motion.htm,C0035127,T047,Disorders What is (are) Cushing's Syndrome ?,0000091-1,information,"Cushing's syndrome, also called hypercortisolism, is a rare endocrine disorder caused by chronic exposure of the body's tissues to excess levels of cortisol - a hormone naturally produced by the adrenal gland. Exposure to too much cortisol can occur from long-term use of synthetic glucocorticoid hormones to treat inflammatory illnesses. Pituitary adenomas (benign tumors of the pituitary gland) that secrete increased amounts of ACTH (adrenocorticotropic hormone, a substance that controls the release of cortisol) can also spur overproduction of cortisol. Tumors of the adrenal gland and ectopic ACTH syndrome (a condition in which ACTH is produced by various types of potentially malignant tumors that occur in different parts of the body) can cause similar problems with cortisol balance. Common symptoms of Cushing's syndrome include upper body obesity, severe fatigue and muscle weakness, high blood pressure, backache, elevated blood sugar, easy bruising, and bluish-red stretch marks on the skin. In women, there may be increased growth of facial and body hair, and menstrual periods may become irregular or stop completely. Neurological symptoms include difficulties with memory and neuromuscular disorders.",Cushing's Syndrome,0000091,NINDS,http://www.ninds.nih.gov/disorders/cushings/cushings.htm,C0010481,T047,Disorders What are the treatments for Cushing's Syndrome ?,0000091-2,treatment,"Treatment of Cushing's syndrome depends on the cause of excess cortisol. If the cause is long-term use of a medication being used to treat another disorder, the physician may reduce the dosage until symptoms are under control. Surgery or radiotherapy may be used to treat pituitary adenomas. Surgery, radiotherapy, chemotherapy, immunotherapy, or a combination of these may be used to treat ectopic ACTH syndrome. The aim of surgical treatment is to cure hypercortisolism by removing the tumor while minimizing the chance of endocrine deficiency or long-term dependence on medications. The U.S. Food and Drug Administration has approved pasireotide diasparate, taken by injection, for individuals who cannot be helped through surgery.",Cushing's Syndrome,0000091,NINDS,http://www.ninds.nih.gov/disorders/cushings/cushings.htm,C0010481,T047,Disorders What is the outlook for Cushing's Syndrome ?,0000091-3,outlook,"The prognosis for those with Cushing's syndrome varies depending on the cause of the disease. Most cases of Cushing's syndrome can be cured. Many individuals with Cushing's syndrome show significant improvement with treatment, although some may find recovery complicated by various aspects of the causative illness. Some kinds of tumors may recur.",Cushing's Syndrome,0000091,NINDS,http://www.ninds.nih.gov/disorders/cushings/cushings.htm,C0010481,T047,Disorders what research (or clinical trials) is being done for Cushing's Syndrome ?,0000091-4,research,"NINDS supports research on Cushing's syndrome aimed at finding new ways to diagnose, treat, and cure the disorder.",Cushing's Syndrome,0000091,NINDS,http://www.ninds.nih.gov/disorders/cushings/cushings.htm,C0010481,T047,Disorders What is (are) Neurological Consequences of Cytomegalovirus Infection ?,0000092-1,information,"Cytomegalovirus (CMV) is a virus found throughout the world that infects between 50 to 80 percent of all adults in the United States by the age of 40. CMV is in the same family of viruses that causes cold sores (herpes simplex virus), infectious mononucleosis (Epstein-Barr virus), and chickenpox/shingles (varicella zoster virus). Most people who acquire CVM as children or adults display no signs of illness or have mild symptoms such as fever, fatigue, or tender lymph nodes. People with a compromised immune system may have more severe forms of infection involving the nervous system. A hallmark of CMV infection is that the virus cycles through periods of dormancy and active infection during the life of the individual Infected persons of any age periodically shed the virus in their body fluids, such as saliva, urine, blood, tears, semen, or breast milk. CMV is most commonly transmitted when infected body fluids come in contact with the mucous membranes of an uninfected person, but the virus can also pass from mother to fetus during pregnancy.",Neurological Consequences of Cytomegalovirus Infection,0000092,NINDS,http://www.ninds.nih.gov/disorders/cytomegalic/cytomegalic.htm,C0010823,T047,Disorders What are the treatments for Neurological Consequences of Cytomegalovirus Infection ?,0000092-2,treatment,"Since the virus remains in the person for life, there is no treatment to eliminate CMV infection. However, minimizing contact with infected body fluids can decrease the risk of viral transmission between individuals or from mother to fetus. Contact can be minimized by using gloves or other protective barriers when handling body fluids or contaminated materials (such as diapers or tissues), avoiding shared dishes, utensils, and other personal items, and consistent and thorough hand-washing. Antiviral drugs (ganciclovir and others)can be used to prevent or control the symptoms of CMV infection in immunocompromised individuals or some infants with congenital infection. CMV immunoglobulin may also be used in some patients. Vaccines are in the development and human clinical trial stages, which shows that vaccines may help prevent initial CMV infection or decrease the severity of symptoms.",Neurological Consequences of Cytomegalovirus Infection,0000092,NINDS,http://www.ninds.nih.gov/disorders/cytomegalic/cytomegalic.htm,C0010823,T047,Disorders What is the outlook for Neurological Consequences of Cytomegalovirus Infection ?,0000092-3,outlook,"For most people CMV infection is not a problem. However, two groups of people are at high risk of neurological or other severe symptoms that may lead to long-term effects: - Unborn infants whose mothers have CMV infection. CMVis the most common congenital infection in the U.S. Most infants will have no permanent health consequences, but a small number will have at birth or will develop long-term neurological conditions, such as hearing loss, visual impairment, seizures, or disabilities f mental or physical function. The highest risk of these severe effects on the fetus is for women who acquire CMV infection for the first time during pregnancy. The risk is much lower for women who have had CMV infection in the past before pregnancy. - Immunocompromised individuals. CMV infection may be severe in solid organ or blood cell transplant recipients, people with untreated or end-stage HIV-AIDS, or others with altered immune function. Infection may affect the brain (encephalitis), spinal cord (myelitis), eye (retinitis), or other organs such as the lungs (pneumonia) or intestinal gract (gastritis, enteritis, or colitis). In addition, transplant recipients may develop organ rejection or graft-versus-host disease associated with CMV infection.",Neurological Consequences of Cytomegalovirus Infection,0000092,NINDS,http://www.ninds.nih.gov/disorders/cytomegalic/cytomegalic.htm,C0010823,T047,Disorders what research (or clinical trials) is being done for Neurological Consequences of Cytomegalovirus Infection ?,0000092-4,research,"The National Institute of Neurological Disorders and Stroke (NINDS), and other institutes of the National Institutes of Health (NIH), conduct research related to CMV infection in laboratories at the NIH, and support additional research through grants to major medical institutions across the country. Much of this research focuses on finding better ways to prevent and treat CMV infection in people at risk of severe neurological consequences, especially a safe and effective CMV vaccine.",Neurological Consequences of Cytomegalovirus Infection,0000092,NINDS,http://www.ninds.nih.gov/disorders/cytomegalic/cytomegalic.htm,C0010823,T047,Disorders What is (are) Opsoclonus Myoclonus ?,0000093-1,information,"Opsoclonus myoclonus is a rare neurological disorder characterized by an unsteady, trembling gait, myoclonus (brief, shock-like muscle spasms), and opsoclonus (irregular, rapid eye movements). Other symptoms may include difficulty speaking, poorly articulated speech, or an inability to speak. A decrease in muscle tone, lethargy, irritability, and malaise (a vague feeling of bodily discomfort) may also be present. Opsoclonus myoclonus may occur in association with tumors or viral infections. It is often seen in children with tumors.",Opsoclonus Myoclonus,0000093,NINDS,http://www.ninds.nih.gov/disorders/opsoclonus_myoclonus/opsoclonus_myoclonus.htm,C1096154,T047,Disorders What are the treatments for Opsoclonus Myoclonus ?,0000093-2,treatment,"Treatment for opsoclonus myoclonus may include corticosteroids or ACTH (adrenocorticotropic hormone). In cases where there is a tumor present, treatment such as chemotherapy, surgery, or radiation may be required.",Opsoclonus Myoclonus,0000093,NINDS,http://www.ninds.nih.gov/disorders/opsoclonus_myoclonus/opsoclonus_myoclonus.htm,C1096154,T047,Disorders What is the outlook for Opsoclonus Myoclonus ?,0000093-3,outlook,"The prognosis for opsoclonus myoclonus varies depending on the symptoms and the presence and treatment of tumors. With treatment of the underlying cause of the disorder, there may be an improvement of symptoms. The symptoms sometimes recur without warning. Generally the disorder is not fatal.",Opsoclonus Myoclonus,0000093,NINDS,http://www.ninds.nih.gov/disorders/opsoclonus_myoclonus/opsoclonus_myoclonus.htm,C1096154,T047,Disorders what research (or clinical trials) is being done for Opsoclonus Myoclonus ?,0000093-4,research,"The NINDS supports and conducts research on movement disorders such as opsoclonus myoclonus. These studies are aimed at increasing knowledge about these disorders and finding ways to prevent, treat, and cure them.",Opsoclonus Myoclonus,0000093,NINDS,http://www.ninds.nih.gov/disorders/opsoclonus_myoclonus/opsoclonus_myoclonus.htm,C1096154,T047,Disorders What is (are) Dandy-Walker Syndrome ?,0000094-1,information,"Dandy-Walker Syndrome is a congenital brain malformation involving the cerebellum (an area of the back of the brain that coordinates movement) and the fluid-filled spaces around it. The key features of this syndrome are an enlargement of the fourth ventricle (a small channel that allows fluid to flow freely between the upper and lower areas of the brain and spinal cord), a partial or complete absence of the area of the brain between the two cerebellar hemispheres (cerebellar vermis), and cyst formation near the lowest part of the skull. An increase in the size and pressure of the fluid spaces surrounding the brain (hydrocephalus) may also be present. The syndrome can appear dramatically or develop unnoticed. Symptoms, which often occur in early infancy, include slow motor development and progressive enlargement of the skull. In older children, symptoms of increased intracranial pressure (pressure within the skull) such as irritability and vomiting, and signs of cerebellar dysfunction such as unsteadiness, lack of muscle coordination, or jerky movements of the eyes may occur. Other symptoms include increased head circumference, bulging at the back of the skull, abnormal breathing problems, and problems with the nerves that control the eyes, face and neck. Dandy-Walker Syndrome is sometimes associated with disorders of other areas of the central nervous system, including absence of the area made up of nerve fibers connecting the two cerebral hemispheres (corpus callosum) and malformations of the heart, face, limbs, fingers and toes.",Dandy-Walker Syndrome,0000094,NINDS,http://www.ninds.nih.gov/disorders/dandywalker/dandywalker.htm,C0010964,T047,Disorders What are the treatments for Dandy-Walker Syndrome ?,0000094-2,treatment,"Treatment for individuals with Dandy-Walker Syndrome generally consists of treating the associated problems, if needed. A surgical procedure called a shunt may be required to drain off excess fluid within the brain, which will reduce pressure inside the skull and improve symptoms. Treatment may also include various forms of therapy (physicial, occupational) and specialized education.",Dandy-Walker Syndrome,0000094,NINDS,http://www.ninds.nih.gov/disorders/dandywalker/dandywalker.htm,C0010964,T047,Disorders What is the outlook for Dandy-Walker Syndrome ?,0000094-3,outlook,"The effect of Dandy-Walker Syndrome on intellectual development is variable, with some children having normal cognition and others never achieving normal intellectual development even when the excess fluid buildup is treated early and correctly. Longevity depends on the severity of the syndrome and associated malformations. The presence of multiple congenital defects may shorten life span.",Dandy-Walker Syndrome,0000094,NINDS,http://www.ninds.nih.gov/disorders/dandywalker/dandywalker.htm,C0010964,T047,Disorders what research (or clinical trials) is being done for Dandy-Walker Syndrome ?,0000094-4,research,"The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system, and to use that knowledge to reduce the burden of neurological disease. The NINDS conducts and supports a wide range of studies that explore the complex mechanisms of normal brain development. Researchers are studying DNA samples from individuals with Dandy-Walker syndrome to identify genes involved with the syndrome, as well as to better understand its causes and improve diagnosis and treatment options. Other research indicates that mothers with diabetes and those with rubella (German measles) during pregnancy are more likely to have a child with Dandy-Walker syndrome.",Dandy-Walker Syndrome,0000094,NINDS,http://www.ninds.nih.gov/disorders/dandywalker/dandywalker.htm,C0010964,T047,Disorders What is (are) Subacute Sclerosing Panencephalitis ?,0000095-1,information,"Subacute sclerosing panencephalitis (SSPE) is a progressive neurological disorder of children and young adults that affects the central nervous system (CNS). It is a slow, but persistent, viral infection caused by defective measles virus. SSPE has been reported from all parts of the world, but it is considered a rare disease in developed countries, with fewer than 10 cases per year reported in the United States. The incidence of SSPE declined by at least 90 percent in countries that have practiced widespread immunization with measles vaccine. The incidence of SSPE is still high in developing countries such as India and Eastern Europe. There is a higher incidence among males than females (male/female: 3/1). Most youngsters with SSPE have a history of measles infection at an early age, usually younger than 2 years, followed by a latent period of 6 to 8 years before neurological symptoms begin. Despite the long interval between the measles infection and the onset of SSPE, researchers think that the infection of the brain occurs soon after the primary bout with measles and progresses slowly. Why it persists and progresses still isn't clear. The initial symptoms of SSPE are subtle and include mild mental deterioration (such as memory loss) and changes in behavior (such as irritability) followed by disturbances in motor function, including uncontrollable involuntary jerking movements of the head, trunk or limbs called myoclonic jerks. Seizures may also occur. Some people may become blind. In advanced stages of the disease, individuals may lose the ability to walk, as their muscles stiffen or spasm. There is progressive deterioration to a comatose state, and then to a persistent vegetative state. Death is usually the result of fever, heart failure, or the brain's inability to continue controlling the autonomic nervous system.",Subacute Sclerosing Panencephalitis,0000095,NINDS,http://www.ninds.nih.gov/disorders/subacute_panencephalitis/subacute_panencephalitis.htm,C0038522,T047,Disorders What are the treatments for Subacute Sclerosing Panencephalitis ?,0000095-2,treatment,"Currently, there is no cure for SSPE. Clinical trials of antiviral (isoprinosine and ribavirin) and immunomodulatory (interferon alpha) drugs have suggested that these types of therapies given alone or in combination halt the progression of the disease and can prolong life, but their long-term effects on individuals, and eventual outcome, are unknown. Good nursing care is the most important aspect of treatment for SSPE, along with anticonvulsant and antispasmodic drugs when needed.",Subacute Sclerosing Panencephalitis,0000095,NINDS,http://www.ninds.nih.gov/disorders/subacute_panencephalitis/subacute_panencephalitis.htm,C0038522,T047,Disorders What is the outlook for Subacute Sclerosing Panencephalitis ?,0000095-3,outlook,"Most individuals with SSPE will die within 1 to 3 years of diagnosis. In a small percentage of people, the disease will progress rapidly, leading to death over a short course within three months of diagnosis. Another small group will have a chronic, slowly progressive form, some with relapses and remissions. A very small number (approximately 5 percent) may experience spontaneous long term improvement and regain lost function. Prevention, in the form of measles vaccination, is the only real ""cure"" for SSPE.",Subacute Sclerosing Panencephalitis,0000095,NINDS,http://www.ninds.nih.gov/disorders/subacute_panencephalitis/subacute_panencephalitis.htm,C0038522,T047,Disorders what research (or clinical trials) is being done for Subacute Sclerosing Panencephalitis ?,0000095-4,research,"The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes at the National Institutes of Health conduct research related to SSPE in their clinics and laboratories and support additional research through grants to major medical institutions across the country. Much of this research focuses on finding better ways to prevent, treat and ultimately cure SSPE.",Subacute Sclerosing Panencephalitis,0000095,NINDS,http://www.ninds.nih.gov/disorders/subacute_panencephalitis/subacute_panencephalitis.htm,C0038522,T047,Disorders What is (are) Septo-Optic Dysplasia ?,0000096-1,information,"Septo-optic dysplasia (SOD) is a rare disorder characterized by abnormal development of the optic disk, pituitary deficiencies, and often agenesis (absence) of the septum pellucidum (the part of the brain that separates the anterior horns or the lateral ventricles of the brain). Symptoms may include blindness in one or both eyes, pupil dilation in response to light, nystagmus (a rapid, involuntary to-and-fro movement of the eyes), inward and outward deviation of the eyes, hypotonia (low muscle tone), and hormonal problems. Seizures may also occur. In a few cases, jaundice (prolonged yellow skin discoloration) may occur at birth. Intellectual problems vary in severity among individuals. While some children with SOD have normal intelligence, others have learning disabilities. Most, however, are developmentally delayed due to vision impairment or neurological problems.",Septo-Optic Dysplasia,0000096,NINDS,http://www.ninds.nih.gov/disorders/septo_optic_dysplasia/septo_optic_dysplasia.htm,C0338503,T019,Disorders What are the treatments for Septo-Optic Dysplasia ?,0000096-2,treatment,"Treatment for SOD is symptomatic. Hormone deficiencies may be treated with hormone replacement therapy. The optical problems associated with SOD are generally not treatable. Vision, physical, and occupational therapies may be required.",Septo-Optic Dysplasia,0000096,NINDS,http://www.ninds.nih.gov/disorders/septo_optic_dysplasia/septo_optic_dysplasia.htm,C0338503,T019,Disorders What is the outlook for Septo-Optic Dysplasia ?,0000096-3,outlook,The prognosis for individuals with SOD varies according to the presence and severity of symptoms.,Septo-Optic Dysplasia,0000096,NINDS,http://www.ninds.nih.gov/disorders/septo_optic_dysplasia/septo_optic_dysplasia.htm,C0338503,T019,Disorders what research (or clinical trials) is being done for Septo-Optic Dysplasia ?,0000096-4,research,"The NINDS supports and conducts neurogenetic research which focuses on identifying and studying the genes involved in normal brain development. The knowledge gained from these fundamental studies provides the foundation for understanding how this process can go awry and, thus, may eventually give clues to understanding disorders such as SOD.",Septo-Optic Dysplasia,0000096,NINDS,http://www.ninds.nih.gov/disorders/septo_optic_dysplasia/septo_optic_dysplasia.htm,C0338503,T019,Disorders What is (are) Deep Brain Stimulation for Parkinson's Disease ?,0000097-1,information,"Deep brain stimulation (DBS) is a surgical procedure used to treat several disabling neurological symptomsmost commonly the debilitating motor symptoms of Parkinsons disease (PD), such as tremor, rigidity, stiffness, slowed movement, and walking problems. The procedure is also used to treat essential tremor and dystonia. At present, the procedure is used only for individuals whose symptoms cannot be adequately controlled with medications. However, only individuals who improve to some degree after taking medication for Parkinsons benefit from DBS. A variety of conditions may mimic PD but do not respond to medications or DBS. DBS uses a surgically implanted, battery-operated medical device called an implantable pulse generator (IPG) - similar to a heart pacemaker and approximately the size of a stopwatch to - deliver electrical stimulation to specific areas in the brain that control movement, thus blocking the abnormal nerve signals that cause PD symptoms. Before the procedure, a neurosurgeon uses magnetic resonance imaging (MRI) or computed tomography (CT) scanning to identify and locate the exact target within the brain for surgical intervention. Some surgeons may use microelectrode recording - which involves a small wire that monitors the activity of nerve cells in the target area - to more specifically identify the precise brain area that will be stimulated. Generally, these areas are the thalamus, subthalamic nucleus, and globus pallidus. There is a low chance that placement of the stimulator may cause bleeding or infection in the brain. The DBS system consists of three components: the lead, the extension, and the IPG. The lead (also called an electrode)a thin, insulated wireis inserted through a small opening in the skull and implanted in the brain. The tip of the electrode is positioned within the specific brain area. The extension is an insulated wire that is passed under the skin of the head, neck, and shoulder, connecting the lead to the implantable pulse generator. The IPG (the ""battery pack"") is the third component and is usually implanted under the skin near the collarbone. In some cases it may be implanted lower in the chest or under the skin over the abdomen. Once the system is in place, electrical impulses are sent from the IPG up along the extension wire and the lead and into the brain. These impulses block abnormal electrical signals and alleviate PD motor symptoms.",Deep Brain Stimulation for Parkinson's Disease,0000097,NINDS,http://www.ninds.nih.gov/disorders/deep_brain_stimulation/deep_brain_stimulation.htm,C0030567,T047,Disorders What are the treatments for Deep Brain Stimulation for Parkinson's Disease ?,0000097-2,treatment,"Unlike previous surgeries for PD, DBS involves minimal permanent surgical changes to the brain. Instead, the procedure uses electrical stimulation to regulate electrical signals in neural circuits to and from identified areas in the brain to improve PD symptoms. Thus, if DBS causes unwanted side effects or newer, more promising treatments develop in the future, the implantable pulse generator can be removed, and the DBS procedure can be halted. Also, stimulation from the IPG is easily adjustablewithout further surgeryif the persons condition changes. Some people describe the pulse generator adjustments as ""programming.""",Deep Brain Stimulation for Parkinson's Disease,0000097,NINDS,http://www.ninds.nih.gov/disorders/deep_brain_stimulation/deep_brain_stimulation.htm,C0030567,T047,Disorders What is the outlook for Deep Brain Stimulation for Parkinson's Disease ?,0000097-3,outlook,"Although most individuals still need to take medication after undergoing DBS, many people with Parkinsons disease experience considerable reduction of their motor symptoms and are able to reduce their medications. The amount of reduction varies but can be considerably reduced in most individuals, and can lead to a significant improvement in side effects such as dyskinesias (involuntary movements caused by long-term use of levodopa). In some cases, the stimulation itself can suppress dyskinesias without a reduction in medication. DBS does not improve cognitive symptoms in PD and indeed may worsen them, so it is not generally used if there are signs of dementia. DBS changes the brain firing pattern but does not slow the progression of the neurodegeneration.",Deep Brain Stimulation for Parkinson's Disease,0000097,NINDS,http://www.ninds.nih.gov/disorders/deep_brain_stimulation/deep_brain_stimulation.htm,C0030567,T047,Disorders what research (or clinical trials) is being done for Deep Brain Stimulation for Parkinson's Disease ?,0000097-4,research,"The National Institute of Neurological Disorders and Stroke (NINDS), a part of the National institutes of Health (NIH), supports research on DBS to determine its safety, reliability, and effectiveness as a treatment for PD. NINDS supported research on brain circuitry was critical to the development of DBS. Researchers are continuing to study DBS and to develop ways of improving it. A two-part study funded by the NINDS and the Department of Veterans Affairs first compared bilateral DBS to best medical therapy, including medication adjustment and physical therapy. Bilateral DBS showed overall superiority to best medical therapy at improving motor symptoms and quality of life. The second part of the study, involving nearly 300 patients, compared subthalamic nucleus (STN) DBS to globus pallidus interna (GPI) DBS. The two groups reported similar improvements in motor control and quality of life in scores on the Unified Parkinsons Disease Rating Scale. On a variety of neuropsychological tests, there were no significant differences between the two groups. However, the STN DBS group experienced a greater decline on a test of visuomotor processing speed, which measures how quickly someone thinks and acts on information. Also, the STN DBS group had slight worsening on a standard assessment of depression, while the GPI DBS group had slight improvement on the same test. The importance of these two differences is not clear, and will be scrutinized in follow-up research. In addition, NINDS-supported researchers are developing and testing improved implantable pulse generators, and conducting studies to better understand the therapeutic effect of neurostimulation on neural circuitry and brain regions affected in PD. For more information about current studies on brain stimulation and Parkinsons disease, see www.clinicaltrials.gov and search for deep brain stimulation AND Parkinson AND NINDS. For information about NINDS-and NIH-supported research studies in this area, see the NIH RePORTER (Research Portfolio Online Reporting Tools) at http://projectreporter.nih.gov and search for deep brain stimulation AND Parkinson. The Brain Initiative for Advancing Innovative Neurotechnologies (BRAIN) initiative, announced in 2013, offers unprecedented opportunities to unlock the mysteries of the brain and accelerate the development of research and technologies to treat disorders such as Parkinsons disease. For more information about the BRAIN initiative, see www.nih.gov/science/brain.",Deep Brain Stimulation for Parkinson's Disease,0000097,NINDS,http://www.ninds.nih.gov/disorders/deep_brain_stimulation/deep_brain_stimulation.htm,C0030567,T047,Disorders What is (are) Dementia ?,0000098-1,information,"Dementia is not a specific disease. It is a descriptive term for a collection of symptoms that can be caused by a number of disorders that affect the brain. People with dementia have significantly impaired intellectual functioning that interferes with normal activities and relationships. They also lose their ability to solve problems and maintain emotional control, and they may experience personality changes and behavioral problems, such as agitation, delusions, and hallucinations. While memory loss is a common symptom of dementia, memory loss by itself does not mean that a person has dementia. Doctors diagnose dementia only if two or more brain functions - such as memory and language skills -- are significantly impaired without loss of consciousness. Some of the diseases that can cause symptoms of dementia are Alzheimers disease, vascular dementia, Lewy body dementia, frontotemporal dementia, Huntingtons disease, and Creutzfeldt-Jakob disease. Doctors have identified other conditions that can cause dementia or dementia-like symptoms including reactions to medications, metabolic problems and endocrine abnormalities, nutritional deficiencies, infections, poisoning, brain tumors, anoxia or hypoxia (conditions in which the brains oxygen supply is either reduced or cut off entirely), and heart and lung problems. Although it is common in very elderly individuals, dementia is not a normal part of the aging process.",Dementia,0000098,NINDS,http://www.ninds.nih.gov/disorders/dementias/dementia.htm,C0497327,T048,Disorders What are the treatments for Dementia ?,0000098-2,treatment,"Drugs to specifically treat Alzheimers disease and some other progressive dementias are now available. Although these drugs do not halt the disease or reverse existing brain damage, they can improve symptoms and slow the progression of the disease. This may improve an individuals quality of life, ease the burden on caregivers, or delay admission to a nursing home. Many researchers are also examining whether these drugs may be useful for treating other types of dementia. Many people with dementia, particularly those in the early stages, may benefit from practicing tasks designed to improve performance in specific aspects of cognitive functioning. For example, people can sometimes be taught to use memory aids, such as mnemonics, computerized recall devices, or note taking.",Dementia,0000098,NINDS,http://www.ninds.nih.gov/disorders/dementias/dementia.htm,C0497327,T048,Disorders What is the outlook for Dementia ?,0000098-3,outlook,"There are many disorders that can cause dementia. Some, such as Alzheimers disease or Huntingtons disease, lead to a progressive loss of mental functions. But other types of dementia can be halted or reversed with appropriate treatment. People with moderate or advanced dementia typically need round-the-clock care and supervision to prevent them from harming themselves or others. They also may need assistance with daily activities such as eating, bathing, and dressing.",Dementia,0000098,NINDS,http://www.ninds.nih.gov/disorders/dementias/dementia.htm,C0497327,T048,Disorders what research (or clinical trials) is being done for Dementia ?,0000098-4,research,The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research related to dementia in laboratories at the NIH and also support additional dementia research through grants to major medical institutions across the country. Current research focuses on many different aspects of dementia. This research promises to improve the lives of people affected by the dementias and may eventually lead to ways of preventing or curing these disorders.,Dementia,0000098,NINDS,http://www.ninds.nih.gov/disorders/dementias/dementia.htm,C0497327,T048,Disorders What is (are) Multi-Infarct Dementia ?,0000099-1,information,"Multi-infarct dementia (MID) is a common cause of memory loss in the elderly. MID is caused by multiple strokes (disruption of blood flow to the brain). Disruption of blood flow leads to damaged brain tissue. Some of these strokes may occur without noticeable clinical symptoms. Doctors refer to these as silent strokes. An individual having asilent stroke may not even know it is happening, but over time, as more areas of the brain are damaged and more small blood vessels are blocked, the symptoms of MID begin to appear. MID can be diagnosed by an MRI or CT of the brain, along with a neurological examination. Symptoms include confusion or problems with short-term memory; wandering, or getting lost in familiar places; walking with rapid, shuffling steps; losing bladder or bowel control; laughing or crying inappropriately; having difficulty following instructions; and having problems counting money and making monetary transactions. MID, which typically begins between the ages of 60 and 75, affects men more often than women. Because the symptoms of MID are so similar to Alzheimers disease, it can be difficult for a doctor to make a firm diagnosis. Since the diseases often occur together, making a single diagnosis of one or the other is even more problematic.",Multi-Infarct Dementia,0000099,NINDS,http://www.ninds.nih.gov/disorders/multi_infarct_dementia/multi_infarct_dementia.htm,C0011263,T048,Disorders What are the treatments for Multi-Infarct Dementia ?,0000099-2,treatment,"There is no treatment available to reverse brain damage that has been caused by a stroke. Treatment focuses on preventing future strokes by controlling or avoiding the diseases and medical conditions that put people at high risk for stroke: high blood pressure, diabetes, high cholesterol, and cardiovascular disease. The best treatment for MID is prevention early in life eating a healthy diet, exercising, not smoking, moderately using alcohol, and maintaining a healthy weight.",Multi-Infarct Dementia,0000099,NINDS,http://www.ninds.nih.gov/disorders/multi_infarct_dementia/multi_infarct_dementia.htm,C0011263,T048,Disorders What is the outlook for Multi-Infarct Dementia ?,0000099-3,outlook,"The prognosis for individuals with MID is generally poor. The symptoms of the disorder may begin suddenly, often in a step-wise pattern after each small stroke. Some people with MID may even appear to improve for short periods of time, then decline after having more silent strokes. The disorder generally takes a downward course with intermittent periods of rapid deterioration. Death may occur from stroke, heart disease, pneumonia, or other infection.",Multi-Infarct Dementia,0000099,NINDS,http://www.ninds.nih.gov/disorders/multi_infarct_dementia/multi_infarct_dementia.htm,C0011263,T048,Disorders what research (or clinical trials) is being done for Multi-Infarct Dementia ?,0000099-4,research,"The National Institute of Neurological Disorders and Stroke (NINDS) conducts research related to MID in its laboratories at the National Institutes of Health (NIH), and also supports additional research through grants to major medical institutions across the country. Much of this research focuses on finding better ways to prevent, treat, and ultimately cure the vascular dementias, such as MID.",Multi-Infarct Dementia,0000099,NINDS,http://www.ninds.nih.gov/disorders/multi_infarct_dementia/multi_infarct_dementia.htm,C0011263,T048,Disorders What is (are) Frontotemporal Dementia ?,0000100-1,information,"Frontotemporal dementia (FTD) describes a clinical syndrome associated with shrinking of the frontal and temporal anterior lobes of the brain. Originally known as Picks disease, the name and classification of FTD has been a topic of discussion for over a century. The current designation of the syndrome groups together Picks disease, primary progressive aphasia, and semantic dementia as FTD. Some doctors propose adding corticobasal degeneration and progressive supranuclear palsy to FTD and calling the group Pick Complex. These designations will continue to be debated. As it is defined today, the symptoms of FTD fall into two clinical patterns that involve either (1) changes in behavior, or (2) problems with language. The first type features behavior that can be either impulsive (disinhibited) or bored and listless (apathetic) and includes inappropriate social behavior; lack of social tact; lack of empathy; distractability; loss of insight into the behaviors of oneself and others; an increased interest in sex; changes in food preferences; agitation or, conversely, blunted emotions; neglect of personal hygiene; repetitive or compulsive behavior, and decreased energy and motivation. The second type primarily features symptoms of language disturbance, including difficulty making or understanding speech, often in conjunction with the behavioral types symptoms. Spatial skills and memory remain intact. There is a strong genetic component to the disease; FTD often runs in families.",Frontotemporal Dementia,0000100,NINDS,http://www.ninds.nih.gov/disorders/picks/picks.htm,C0236642,T047,Disorders What are the treatments for Frontotemporal Dementia ?,0000100-2,treatment,"No treatment has been shown to slow the progression of FTD. Behavior modification may help control unacceptable or dangerous behaviors. Aggressive, agitated, or dangerous behaviors could require medication. Anti-depressants have been shown to improve some symptoms.",Frontotemporal Dementia,0000100,NINDS,http://www.ninds.nih.gov/disorders/picks/picks.htm,C0236642,T047,Disorders What is the outlook for Frontotemporal Dementia ?,0000100-3,outlook,"The outcome for people with FTD is poor. The disease progresses steadily and often rapidly, ranging from less than 2 years in some individuals to more than 10 years in others. Eventually some individuals with FTD will need 24-hour care and monitoring at home or in an institutionalized care setting.",Frontotemporal Dementia,0000100,NINDS,http://www.ninds.nih.gov/disorders/picks/picks.htm,C0236642,T047,Disorders what research (or clinical trials) is being done for Frontotemporal Dementia ?,0000100-4,research,"The National Institute of Neurological Disorders and Stroke (NINDS), and other institutes of the National Institutes of Health (NIH), conduct research related to FTD in laboratories at the NIH, and also support additional research through grants to major medical institutions across the country.",Frontotemporal Dementia,0000100,NINDS,http://www.ninds.nih.gov/disorders/picks/picks.htm,C0236642,T047,Disorders What is (are) Dementia With Lewy Bodies ?,0000101-1,information,"Dementia with Lewy bodies (DLB) is one of the most common types of progressive dementia. The central features of DLB include progressive cognitive decline, fluctuations in alertness and attention, visual hallucinations, and parkinsonian motor symptoms, such as slowness of movement, difficulty walking, or rigidity. People may also suffer from depression. The symptoms of DLB are caused by the build-up of Lewy bodies accumulated bits of alpha-synuclein protein -- inside the nuclei of neurons in areas of the brain that control particular aspects of memory and motor control. Researchers dont know exactly why alpha-synuclein accumulates into Lewy bodies or how Lewy bodies cause the symptoms of DLB, but they do know that alpha-synuclein accumulation is also linked to Parkinson's disease, multiple system atrophy, and several other disorders, which are referred to as the ""synucleinopathies."" The similarity of symptoms between DLB and Parkinsons disease, and between DLB and Alzheimers disease, can often make it difficult for a doctor to make a definitive diagnosis. In addition, Lewy bodies are often also found in the brains of people with Parkinson's and Alzheimers diseases. These findings suggest that either DLB is related to these other causes of dementia or that an individual can have both diseases at the same time. DLB usually occurs sporadically, in people with no known family history of the disease. However, rare familial cases have occasionally been reported.",Dementia With Lewy Bodies,0000101,NINDS,http://www.ninds.nih.gov/disorders/dementiawithlewybodies/dementiawithlewybodies.htm,C0752347,T047,Disorders What are the treatments for Dementia With Lewy Bodies ?,0000101-2,treatment,"There is no cure for DLB. Treatments are aimed at controlling the cognitive, psychiatric, and motor symptoms of the disorder. Acetylcholinesterase inhibitors, such as donepezil and rivastigmine, are primarily used to treat the cognitive symptoms of DLB, but they may also be of some benefit in reducing the psychiatric and motor symptoms. Doctors tend to avoid prescribing antipsychotics for hallucinatory symptoms of DLB because of the risk that neuroleptic sensitivity could worsen the motor symptoms. Some individuals with DLB may benefit from the use of levodopa for their rigidity and loss of spontaneous movement.",Dementia With Lewy Bodies,0000101,NINDS,http://www.ninds.nih.gov/disorders/dementiawithlewybodies/dementiawithlewybodies.htm,C0752347,T047,Disorders What is the outlook for Dementia With Lewy Bodies ?,0000101-3,outlook,"Like Alzheimers disease and Parkinsons disease, DLB is a neurodegenerative disorder that results in progressive intellectual and functional deterioration. There are no known therapies to stop or slow the progression of DLB. Average survival after the time of diagnosis is similar to that in Alzheimers disease, about 8 years, with progressively increasing disability.",Dementia With Lewy Bodies,0000101,NINDS,http://www.ninds.nih.gov/disorders/dementiawithlewybodies/dementiawithlewybodies.htm,C0752347,T047,Disorders what research (or clinical trials) is being done for Dementia With Lewy Bodies ?,0000101-4,research,"The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health conduct research related to DLB in laboratories at the NIH and support additional research through grants to major medical institutions across the country. Much of this research focuses on searching for the genetic roots of DLB, exploring the molecular mechanisms of alpha-synuclein accumulation, and discovering how Lewy bodies cause the particular symptoms of DLB and the other synucleinopathies. The goal of NINDS research is to find better ways to prevent, treat, and ultimately cure disorders such as DLB.",Dementia With Lewy Bodies,0000101,NINDS,http://www.ninds.nih.gov/disorders/dementiawithlewybodies/dementiawithlewybodies.htm,C0752347,T047,Disorders What is (are) Dyssynergia Cerebellaris Myoclonica ?,0000102-1,information,"Dyssynergia Cerebellaris Myoclonica refers to a collection of rare, degenerative, neurological disorders characterized by epilepsy, cognitive impairment, myoclonus, and progressive ataxia. Symptoms include seizures, tremor, and reduced muscle coordination. Onset of the disorder generally occurs in early adulthood. Tremor may begin in one extremity and later spread to involve the entire voluntary muscular system. Arms are usually more affected than legs. Some of the cases are due to mitochondrial abnormalities.",Dyssynergia Cerebellaris Myoclonica,0000102,NINDS,http://www.ninds.nih.gov/disorders/dyssynergia/dyssynergia.htm,C0007761,T047,Disorders What are the treatments for Dyssynergia Cerebellaris Myoclonica ?,0000102-2,treatment,Treatment of Dyssynergia Cerebellaris Myoclonica is symptomatic. Myoclonus and seizures may be treated with drugs like valproate.,Dyssynergia Cerebellaris Myoclonica,0000102,NINDS,http://www.ninds.nih.gov/disorders/dyssynergia/dyssynergia.htm,C0007761,T047,Disorders What is the outlook for Dyssynergia Cerebellaris Myoclonica ?,0000102-3,outlook,The progression of the disorder is usually 10 years or longer.,Dyssynergia Cerebellaris Myoclonica,0000102,NINDS,http://www.ninds.nih.gov/disorders/dyssynergia/dyssynergia.htm,C0007761,T047,Disorders what research (or clinical trials) is being done for Dyssynergia Cerebellaris Myoclonica ?,0000102-4,research,"The NINDS supports a broad range of research on neurodegenerative disorders such as Dyssynergia Cerebellaris Myoclonica. The goals of this research are to find ways to prevent, treat, and cure these kinds of disorders.",Dyssynergia Cerebellaris Myoclonica,0000102,NINDS,http://www.ninds.nih.gov/disorders/dyssynergia/dyssynergia.htm,C0007761,T047,Disorders What is (are) Dermatomyositis ?,0000103-1,information,"Dermatomyositis is one of a group of muscle diseases known as the inflammatory myopathies, which are characterized by chronic muscle inflammation accompanied by muscle weakness. Dermatomyositis cardinal symptom is a skin rash that precedes, accompanies, or follows progressive muscle weakness. The rash looks patchy, with purple or red discolorations, and characteristically develops on the eyelids and on muscles used to extend or straighten joints, including knuckles, elbows, knees, and toes. Red rashes may also occur on the face, neck, shoulders, upper chest, back, and other locations, and there may be swelling in the affected areas. The rash sometimes occurs without obvious muscle involvement. Adults with dermatomyositis may experience weight loss, a low-grade fever, inflamed lungs, and be sensitive to light such that the rash or muscle disease gets worse. Children and adults with dermatomyositis may develop calcium deposits, which appear as hard bumps under the skin or in the muscle (called calcinosis). Calcinosis most often occurs 1-3 years after the disease begins. These deposits are seen more often in children with dermatomyositis than in adults. In some cases of dermatomyositis, distal muscles (muscles located away from the trunk of the body, such as those in the forearms and around the ankles and wrists) may be affected as the disease progresses. Dermatomyositis may be associated with collagen-vascular or autoimmune diseases, such as lupus.",Dermatomyositis,0000103,NINDS,http://www.ninds.nih.gov/disorders/dermatomyositis/dermatomyositis.htm,C0221056,T047,Disorders What are the treatments for Dermatomyositis ?,0000103-2,treatment,"There is no cure for dermatomyositis, but the symptoms can be treated. Options include medication, physical therapy, exercise, heat therapy (including microwave and ultrasound), orthotics and assistive devices, and rest. The standard treatment for dermatomyositis is a corticosteroid drug, given either in pill form or intravenously. Immunosuppressant drugs, such as azathioprine and methotrexate, may reduce inflammation in people who do not respond well to prednisone. Periodic treatment using intravenous immunoglobulin can also improve recovery. Other immunosuppressive agents used to treat the inflammation associated with dermatomyositis include cyclosporine A, cyclophosphamide, and tacrolimus. Physical therapy is usually recommended to prevent muscle atrophy and to regain muscle strength and range of motion. Many individuals with dermatomyositis may need a topical ointment, such as topical corticosteroids, for their skin disorder. They should wear a high-protection sunscreen and protective clothing. Surgery may be required to remove calcium deposits that cause nerve pain and recurrent infections.",Dermatomyositis,0000103,NINDS,http://www.ninds.nih.gov/disorders/dermatomyositis/dermatomyositis.htm,C0221056,T047,Disorders What is the outlook for Dermatomyositis ?,0000103-3,outlook,Most cases of dermatomyositis respond to therapy. The disease is usually more severe and resistant to therapy in individuals with cardiac or pulmonary problems.,Dermatomyositis,0000103,NINDS,http://www.ninds.nih.gov/disorders/dermatomyositis/dermatomyositis.htm,C0221056,T047,Disorders what research (or clinical trials) is being done for Dermatomyositis ?,0000103-4,research,"The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research relating to dermatomyositis in laboratories at the NIH and support additional research through grants to major medical institutions across the country. Currently funded research is exploring patterns of gene expression among the inflammatory myopathies, the role of viral infection as a precursor to the disorders, and the safety and efficacy of various treatment regimens.",Dermatomyositis,0000103,NINDS,http://www.ninds.nih.gov/disorders/dermatomyositis/dermatomyositis.htm,C0221056,T047,Disorders What is (are) Developmental Dyspraxia ?,0000104-1,information,"Developmental dyspraxia is a disorder characterized by an impairment in the ability to plan and carry out sensory and motor tasks. Generally, individuals with the disorder appear ""out of sync"" with their environment. Symptoms vary and may include poor balance and coordination, clumsiness, vision problems, perception difficulties, emotional and behavioral problems, difficulty with reading, writing, and speaking, poor social skills, poor posture, and poor short-term memory. Although individuals with the disorder may be of average or above average intelligence, they may behave immaturely.",Developmental Dyspraxia,0000104,NINDS,http://www.ninds.nih.gov/disorders/dyspraxia/dyspraxia.htm,C0011757,T048,Disorders What are the treatments for Developmental Dyspraxia ?,0000104-2,treatment,"Treatment is symptomatic and supportive and may include occupational and speech therapy, and ""cueing"" or other forms of communication such as using pictures and hand gestures. Many children with the disorder require special education.",Developmental Dyspraxia,0000104,NINDS,http://www.ninds.nih.gov/disorders/dyspraxia/dyspraxia.htm,C0011757,T048,Disorders What is the outlook for Developmental Dyspraxia ?,0000104-3,outlook,Developmental dyspraxia is a lifelong disorder. Many individuals are able to compensate for their disabilities through occupational and speech therapy.,Developmental Dyspraxia,0000104,NINDS,http://www.ninds.nih.gov/disorders/dyspraxia/dyspraxia.htm,C0011757,T048,Disorders what research (or clinical trials) is being done for Developmental Dyspraxia ?,0000104-4,research,"The NINDS supports research on developmental disorders, such as developmental dyspraxia, aimed at learning more about these disorders, and finding ways to prevent and treat them.",Developmental Dyspraxia,0000104,NINDS,http://www.ninds.nih.gov/disorders/dyspraxia/dyspraxia.htm,C0011757,T048,Disorders What is (are) Neuromyelitis Optica ?,0000105-1,information,"Neuromyelitis optica (NMO) is an autoimmune disease of the central nervous system (CNS) that predominantly affects the optic nerves and spinal cord. It is sometimes also referred to as NMO spectrum disorder.In NMO, the body's immune system mistakenly attacks healthy cells and proteins in the body, must often those in the spinal cord and eyes. Individuals with NMO develop optic neuritis, which caused pain in the eye and vision loss. Individuals also develop transverse myelitis, which causes weakness or paralysis of arms and legs,and numbness, along with loss of bladder and bowel control Magnetic resonance imaging of the spine often shows an abnormality that extends over long segments of the spinal cord. Individuals may also develop episodes of severe nausea and vomiting, with hiccups from involvement of a part of the brain that ocntrols vomiting The disease is caused by abnormal autoantibodies that bind to a protein called aquaporin-4. Binding of the aquaporin-4 antibody activates other components of the immune system, causing inflammation and damage to these cells. This also results in the brain and spinal cord the loss of myelin, the fatty substance that acts as insulation around nerve fibers and helps nerve signals move from cell to cell. NMO is different from multiple sclerosis (MS). Attacks are usually more severe in NMO than in MS, and NMO is treated differently than MS. Most individuals with NMO experience clusters of attacks days to months or years apart, followed by partial recovery during periods of remission. Women are more often affected by NMO than men. African Americans are at greater risk of the disease than are Caucasians. The onset of NMO varies from childhood to adulthood, with two peaks, one in childhood and the other in adults in their 40s.",Neuromyelitis Optica,0000105,NINDS,http://www.ninds.nih.gov/disorders/neuromyelitis_optica/neuromyelitis_optica.htm,C0027873,T047,Disorders What are the treatments for Neuromyelitis Optica ?,0000105-2,treatment,"There is no cure for NMO and no FDA-approved therapies, but there are therapies to treat an attack while it is happening, to reduce symptoms, and to prevent relapses.NMO relapses and attacks are often treated with corticosteroid drugs and plasma exchange (also called plasmapheresis, a process used to remove harmful antibodies from the bloodstream). Immunosuppressvie drugs used to prevent attacks include mycophenolate mofetil, rituximab, and azathioprine. Pain, stiffness, muscle spasms, and bladder and bowel control problems can be managed with medicaitons and therapies. Individuals with major disability will require the combined efforts to physical and occupational therapists, along with social services professionals to address complex rehabilitation needs.",Neuromyelitis Optica,0000105,NINDS,http://www.ninds.nih.gov/disorders/neuromyelitis_optica/neuromyelitis_optica.htm,C0027873,T047,Disorders What is the outlook for Neuromyelitis Optica ?,0000105-3,outlook,"Most individuals with NMO have an unpredictable, relapsing course of disease with attacks occurring months or years apart. Disability is cumulative, the result of each attack damaging new areas of the central nervous system. Some individuals are severely affected by NMO and can lose vision in both eyes and the use of their arms and legs. Most individuals experience some degree of permanent limb weakness or vision loss from NMO. However, reducing the number of attacks with immunosuppressive medications may help prevent with accumulation of disability. Rarely, muscle weakness can be severe enough to cause breathing difficulties and may require the use of artificial ventilation.",Neuromyelitis Optica,0000105,NINDS,http://www.ninds.nih.gov/disorders/neuromyelitis_optica/neuromyelitis_optica.htm,C0027873,T047,Disorders what research (or clinical trials) is being done for Neuromyelitis Optica ?,0000105-4,research,"The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge of the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. The NINDS is a component of the National Institutes of Health, the leading supporter of biomedical research in the world. NINDS researchers are working to better understand the process by which the immune system destroys or attacks the nerve insulating substance called myelin in autoijmune diseases or disorders. Other work focuses on strategies to repair demyelinated spinal cords, including approaches using cell transplantation. this research may lead to a grater understanding of the mechanisms responsible for damaging myelin and may ultimately provide a means to prevent and treat transverse myelitis An NINDS-funded study comparing clinical MRI and lumbar puncture of healthy individuals to those with symptoms of immune-related central nervous system damage hopes to identify processes or mechanisms to inhibit or minimize spinal tissue damage and enhance recovery mechanisms. Multiple studies are looking at ways to target different components of the immune system known to be involved in NMO spectrum disorders to allow more directly targeted treatment of this disease.",Neuromyelitis Optica,0000105,NINDS,http://www.ninds.nih.gov/disorders/neuromyelitis_optica/neuromyelitis_optica.htm,C0027873,T047,Disorders What is (are) Diabetic Neuropathy ?,0000106-1,information,"Diabetic neuropathy is a peripheral nerve disorder caused by diabetes or poor blood sugar control. The most common types of diabetic neuropathy result in problems with sensation in the feet. It can develop slowly after many years of diabetes or may occur early in the disease. The symptoms are numbness, pain, or tingling in the feet or lower legs. The pain can be intense and require treatment to relieve the discomfort. The loss of sensation in the feet may also increase the possibility that foot injuries will go unnoticed and develop into ulcers or lesions that become infected. In some cases, diabetic neuropathy can be associated with difficulty walking and some weakness in the foot muscles. There are other types of diabetic-related neuropathies that affect specific parts of the body. For example, diabetic amyotrophy causes pain, weakness and wasting of the thigh muscles, or cranial nerve infarcts that may result in double vision, a drooping eyelid, or dizziness. Diabetes can also affect the autonomic nerves that control blood pressure, the digestive tract, bladder function, and sexual organs. Problems with the autonomic nerves may cause lightheadedness, indigestion, diarrhea or constipation, difficulty with bladder control, and impotence.",Diabetic Neuropathy,0000106,NINDS,http://www.ninds.nih.gov/disorders/diabetic/diabetic.htm,C0011882,T047,Disorders What are the treatments for Diabetic Neuropathy ?,0000106-2,treatment,"The goal of treating diabetic neuropathy is to prevent further tissue damage and relieve discomfort. The first step is to bring blood sugar levels under control by diet and medication. Another important part of treatment involves taking special care of the feet by wearing proper fitting shoes and routinely checking the feet for cuts and infections. Analgesics, low doses of antidepressants, and some anticonvulsant medications may be prescribed for relief of pain, burning, or tingling. Some individuals find that walking regularly, taking warm baths, or using elastic stockings may help relieve leg pain.",Diabetic Neuropathy,0000106,NINDS,http://www.ninds.nih.gov/disorders/diabetic/diabetic.htm,C0011882,T047,Disorders What is the outlook for Diabetic Neuropathy ?,0000106-3,outlook,"The prognosis for diabetic neuropathy depends largely on how well the underlying condition of diabetes is handled. Treating diabetes may halt progression and improve symptoms of the neuropathy, but recovery is slow. The painful sensations of diabetic neuropathy may become severe enough to cause depression in some patients.",Diabetic Neuropathy,0000106,NINDS,http://www.ninds.nih.gov/disorders/diabetic/diabetic.htm,C0011882,T047,Disorders what research (or clinical trials) is being done for Diabetic Neuropathy ?,0000106-4,research,The NINDS conducts and supports research on diabetic neuropathy to increase understanding of the disorder and find ways to prevent and cure it. New medications are currently being examined to assess improvement or stabilization of neuropathic symptoms.,Diabetic Neuropathy,0000106,NINDS,http://www.ninds.nih.gov/disorders/diabetic/diabetic.htm,C0011882,T047,Disorders What is (are) Schilder's Disease ?,0000107-1,information,"Schilder's disease is a rare progressive demyelinating disorder which usually begins in childhood. Schilder's disease is not the same as Addison-Schilder disease (adrenoleukodystrophy). Symptoms may include dementia, aphasia, seizures, personality changes, poor attention, tremors, balance instability, incontinence, muscle weakness, headache, vomiting, and vision and speech impairment. The disorder is a variant of multiple sclerosis.",Schilder's Disease,0000107,NINDS,http://www.ninds.nih.gov/disorders/schilders/schilders.htm,C0007795,T047,Disorders What are the treatments for Schilder's Disease ?,0000107-2,treatment,"Treatment for the disorder follows the established standards in multiple sclerosis and includes corticosteroids, beta-interferon or immunosuppressive therapy, and symptomatic treatment.",Schilder's Disease,0000107,NINDS,http://www.ninds.nih.gov/disorders/schilders/schilders.htm,C0007795,T047,Disorders What is the outlook for Schilder's Disease ?,0000107-3,outlook,"As with multiple sclerosis, the course and prognosis of Schilder's disease are unpredictable. For some individuals the disorder is progressive with a steady, unremitting course. Others may experience significant improvement and even remission. In some cases, Schilder's disease is fatal.",Schilder's Disease,0000107,NINDS,http://www.ninds.nih.gov/disorders/schilders/schilders.htm,C0007795,T047,Disorders what research (or clinical trials) is being done for Schilder's Disease ?,0000107-4,research,"The NINDS supports and conducts an extensive research program on demyelinating disorders such as Schilder's disease. Much of this research focuses on learning more about these disorders and finding ways to prevent, treat, and cure them.",Schilder's Disease,0000107,NINDS,http://www.ninds.nih.gov/disorders/schilders/schilders.htm,C0007795,T047,Disorders What is (are) Dravet Syndrome ?,0000108-1,information,"Dravet syndrome, also called severe myoclonic epilepsy of infancy (SMEI), is a severe form of epilepsy. It appears during the first year of life with frequent febrile seizures fever-related seizures that, by definition, are rare beyond age 5. Later, other types of seizures typically arise, including myoclonus (involuntary muscle spasms). Status epilepticus a state of continuous seizure requiring emergency medical care also may occur. Children with Dravet syndrome typically experience poor development of language and motor skills, hyperactivity, and difficulty relating to others. In 30 to 80 percent of cases, Dravet syndrome is caused by defects in a gene required for the proper function of brain cells. Borderline SMEI (SMEB) and another type of infant-onset epilepsy called generalized epilepsy with febrile seizures plus (GEFS+) are caused by defects in the same gene. In GEFS+, febrile seizures may persist beyond age 5.",Dravet Syndrome,0000108,NINDS,http://www.ninds.nih.gov/disorders/dravet_syndrome/dravet_syndrome.htm,C0751122,T047,Disorders What are the treatments for Dravet Syndrome ?,0000108-2,treatment,"Seizures in Dravet syndrome are difficult to control, but can be reduced by anticonvulsant drugs. A ketogenic diet, high in fats and low in carbohydrates, also may be beneficial.",Dravet Syndrome,0000108,NINDS,http://www.ninds.nih.gov/disorders/dravet_syndrome/dravet_syndrome.htm,C0751122,T047,Disorders What is the outlook for Dravet Syndrome ?,0000108-3,outlook,"As children with Dravet syndrome get older, their decline in cognitive function stabilizes, and in many, it improves slightly. However, most teenagers with Dravet syndrome are dependent on caregivers. The degree of cognitive impairment appears to correlate with the frequency of seizures.",Dravet Syndrome,0000108,NINDS,http://www.ninds.nih.gov/disorders/dravet_syndrome/dravet_syndrome.htm,C0751122,T047,Disorders what research (or clinical trials) is being done for Dravet Syndrome ?,0000108-4,research,"The NINDS conducts and supports a broad program of basic and clinical research on all types of epilepsy, including Dravet syndrome. Study of the genetic defects responsible for Dravet syndrome and related disorders is expected to lead to the development of effective drug therapies.",Dravet Syndrome,0000108,NINDS,http://www.ninds.nih.gov/disorders/dravet_syndrome/dravet_syndrome.htm,C0751122,T047,Disorders What is (are) Dysgraphia ?,0000109-1,information,"Dysgraphia is a neurological disorder characterized by writing disabilities. Specifically, the disorder causes a person's writing to be distorted or incorrect. In children, the disorder generally emerges when they are first introduced to writing. They make inappropriately sized and spaced letters, or write wrong or misspelled words, despite thorough instruction. Children with the disorder may have other learning disabilities; however, they usually have no social or other academic problems. Cases of dysgraphia in adults generally occur after some trauma. In addition to poor handwriting, dysgraphia is characterized by wrong or odd spelling, and production of words that are not correct (i.e., using ""boy"" for ""child""). The cause of the disorder is unknown, but in adults, it is usually associated with damage to the parietal lobe of the brain.",Dysgraphia,0000109,NINDS,http://www.ninds.nih.gov/disorders/dysgraphia/dysgraphia.htm,C0234144,T048,Disorders What are the treatments for Dysgraphia ?,0000109-2,treatment,Treatment for dysgraphia varies and may include treatment for motor disorders to help control writing movements. Other treatments may address impaired memory or other neurological problems. Some physicians recommend that individuals with dysgraphia use computers to avoid the problems of handwriting.,Dysgraphia,0000109,NINDS,http://www.ninds.nih.gov/disorders/dysgraphia/dysgraphia.htm,C0234144,T048,Disorders What is the outlook for Dysgraphia ?,0000109-3,outlook,"Some individuals with dysgraphia improve their writing ability, but for others, the disorder persists.",Dysgraphia,0000109,NINDS,http://www.ninds.nih.gov/disorders/dysgraphia/dysgraphia.htm,C0234144,T048,Disorders what research (or clinical trials) is being done for Dysgraphia ?,0000109-4,research,"The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) support dysgraphia research through grants to major medical institutions across the country. Much of this research focuses on finding better ways to treat, and ultimately, prevent dysgraphia.",Dysgraphia,0000109,NINDS,http://www.ninds.nih.gov/disorders/dysgraphia/dysgraphia.htm,C0234144,T048,Disorders What is (are) Dyslexia ?,0000110-1,information,"Dyslexia is a brain-based type of learning disability that specifically impairs a person's ability to read. These individuals typically read at levels significantly lower than expected despite having normal intelligence. Although the disorder varies from person to person, common characteristics among people with dyslexia are difficulty with phonological processing (the manipulation of sounds), spelling, and/or rapid visual-verbal responding. In individuals with adult onset of dyslexia, it usually occurs as a result of brain injury or in the context of dementia; this contrasts with individuals with dyslexia who simply were never identified as children or adolescents. Dyslexia can be inherited in some families, and recent studies have identified a number of genes that may predispose an individual to developing dyslexia.",Dyslexia,0000110,NINDS,http://www.ninds.nih.gov/disorders/dyslexia/dyslexia.htm,C0476254,T048,Disorders What are the treatments for Dyslexia ?,0000110-2,treatment,The main focus of treatment should be on the specific learning problems of affected individuals. The usual course is to modify teaching methods and the educational environment to meet the specific needs of the individual with dyslexia.,Dyslexia,0000110,NINDS,http://www.ninds.nih.gov/disorders/dyslexia/dyslexia.htm,C0476254,T048,Disorders What is the outlook for Dyslexia ?,0000110-3,outlook,"For those with dyslexia, the prognosis is mixed. The disability affects such a wide range of people and produces such different symptoms and varying degrees of severity that predictions are hard to make. The prognosis is generally good, however, for individuals whose dyslexia is identified early, who have supportive family and friends and a strong self-image, and who are involved in a proper remediation program.",Dyslexia,0000110,NINDS,http://www.ninds.nih.gov/disorders/dyslexia/dyslexia.htm,C0476254,T048,Disorders what research (or clinical trials) is being done for Dyslexia ?,0000110-4,research,"The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) support dyslexia research through grants to major research institutions across the country. Current research avenues focus on developing techniques to diagnose and treat dyslexia and other learning disabilities, increasing the understanding of the biological and possible genetic bases of learning disabilities, and exploring the relationship between neurophysiological processes and cognitive functions with regard to reading ability.",Dyslexia,0000110,NINDS,http://www.ninds.nih.gov/disorders/dyslexia/dyslexia.htm,C0476254,T048,Disorders What is (are) Swallowing Disorders ?,0000111-1,information,"Having trouble swallowing (dysphagia) is a symptom that accompanies a number of neurological disorders. The problem can occur at any stage of the normal swallowing process as food and liquid move from the mouth, down the back of the throat, through the esophagus and into the stomach. Difficulties can range from a total inability to swallow, to coughing or choking because the food or liquid is entering the windpipe, which is referred to as aspiration. When aspiration is frequent a person can be at risk of developing pneumonia. Food may get ""stuck"" in the throat or individuals may drool because they cannot swallow their saliva. Neurological conditions that can cause swallowing difficulties are: stroke (the most common cause of dysphagia); traumatic brain injury; cerebral palsy; Parkinson disease and other degenerative neurological disorders such as amyotrophic lateral sclerosis (ALS, also known as Lou Gehrig's disease), multiple sclerosis, progressive supranuclear palsy, Huntington disease, and myasthenia gravis. Muscular dystrophy and myotonic dystrophy are accompanied by dysphagia, which is also the cardinal symptom of oculopharyngeal muscular dystrophy, a rare, progressive genetic disorder.",Swallowing Disorders,0000111,NINDS,http://www.ninds.nih.gov/disorders/swallowing_disorders/swallowing_disorders.htm,C0011168,T047,Disorders What are the treatments for Swallowing Disorders ?,0000111-2,treatment,"Changing a person's diet by adding thickeners helps many people, as does learning different ways to eat and chew that reduce the risk for aspiration. Occasionally drug therapy that helps the neurological disorder can also help dysphagia. In a few persons, botulinum toxin injections can help when food or liquid cannot enter the esophagus to get to the stomach. More severely disabled individuals may require surgery or the insertion of feeding tubes.",Swallowing Disorders,0000111,NINDS,http://www.ninds.nih.gov/disorders/swallowing_disorders/swallowing_disorders.htm,C0011168,T047,Disorders What is the outlook for Swallowing Disorders ?,0000111-3,outlook,"The prognosis depends upon the type of swallowing problem and the course of the neurological disorder that produces it. In some cases, dysphagia can be partially or completely corrected using diet manipulation or non-invasive methods. In others, especially when the dysphagia is causing aspiration and preventing adequate nutrition and causing weight loss, it may require aggressive intervention such as a feeding tube. For those with progressive degenerative neurological disorders, dysphagia will be only one in a cluster of symptoms and disabilities that have to be treated.",Swallowing Disorders,0000111,NINDS,http://www.ninds.nih.gov/disorders/swallowing_disorders/swallowing_disorders.htm,C0011168,T047,Disorders what research (or clinical trials) is being done for Swallowing Disorders ?,0000111-4,research,The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes at the National Institutes of Health conduct research related to dysphagia in their clinics and laboratories and support additional research through grants to major medical institutions across the country. Much of this research focuses on finding better ways to treat dysphagia.,Swallowing Disorders,0000111,NINDS,http://www.ninds.nih.gov/disorders/swallowing_disorders/swallowing_disorders.htm,C0011168,T047,Disorders What is (are) Dystonias ?,0000112-1,information,"The dystonias are movement disorders in which sustained muscle contractions cause twisting and repetitive movements or abnormal postures. The movements, which are involuntary and sometimes painful, may affect a single muscle; a group of muscles such as those in the arms, legs, or neck; or the entire body. Early symptoms may include deterioration in handwriting, foot cramps, or a dragging foot after running or walking some distance. Other possible symptoms are tremor and voice or speech difficulties. About half the cases of dystonia have no connection to disease or injury and are called primary or idiopathic dystonia. Of the primary dystonias, many cases appear to be inherited. Dystonias can also be symptoms of other diseases, some of which may be hereditary. Dystonia can occur at any age, but is often described as either early, or childhood, onset versus adult onset.",Dystonias,0000112,NINDS,http://www.ninds.nih.gov/disorders/dystonias/dystonias.htm,C0013421,T184,Disorders What are the treatments for Dystonias ?,0000112-2,treatment,"No one treatment has been found to be universally effective. Instead, doctors use a variety of therapies (medications, surgery, and other treatments such as physical therapy, splinting, stress management, and biofeedback) aimed at reducing or eliminating muscle spasms and pain. Since response to drugs varies among individuals and even in the same person over time, the most effective therapy is often individualized.",Dystonias,0000112,NINDS,http://www.ninds.nih.gov/disorders/dystonias/dystonias.htm,C0013421,T184,Disorders What is the outlook for Dystonias ?,0000112-3,outlook,"The initial symptoms can be very mild and may be noticeable only after prolonged exertion, stress, or fatigue. Dystonias often progress through various stages. Initially, dystonic movements are intermittent and appear only during voluntary movements or stress. Later, individuals may show dystonic postures and movements while walking and ultimately even while they are relaxed. Dystonic motions may lead to permanent physical deformities by causing tendons to shorten.",Dystonias,0000112,NINDS,http://www.ninds.nih.gov/disorders/dystonias/dystonias.htm,C0013421,T184,Disorders what research (or clinical trials) is being done for Dystonias ?,0000112-4,research,"The National Institute of Neurological Disorders and Stroke (NINDS) conducts research related to dystonia in its laboratories at the National Institutes of Health (NIH) and also supports additional dystonia research through grants to major research institutions across the country. Scientists at other NIH Institutes (National institute on Deafness and Other Communications Disorders, National Eye Institute, and Eunice Kennnedy Shriver National Institute on Child Health and Human Development) also support research that may benefit individuals with dystonia. Investigators believe that the dystonias result from an abnormality in an area of the brain called the basal ganglia, where some of the messages that initiate muscle contractions are processed. Scientists at the NINDS laboratories have conducted detailed investigations of the pattern of muscle activity in persons with dystonias. Studies using EEG analysis and neuroimaging are probing brain activity. The search for the gene or genes responsible for some forms of dominantly inherited dystonias continues.",Dystonias,0000112,NINDS,http://www.ninds.nih.gov/disorders/dystonias/dystonias.htm,C0013421,T184,Disorders What is (are) Ohtahara Syndrome ?,0000113-1,information,"Ohtahara syndrome is a neurological disorder characterized by seizures. The disorder affects newborns, usually within the first three months of life (most often within the first 10 days) in the form of epileptic seizures. Infants have primarily tonic seizures, but may also experience partial seizures, and rarely, myoclonic seizures. Ohtahara syndrome is most commonly caused by metabolic disorders or structural damage in the brain, although the cause or causes for many cases cant be determined. Most infants with the disorder show significant underdevelopment of part or all of the cerebral hemispheres. The EEGs of infants with Ohtahara syndrome reveal a characteristic pattern of high voltage spike wave discharge followed by little activity. This pattern is known as burst suppression. Doctors have observed that boys are more often affected than girls.",Ohtahara Syndrome,0000113,NINDS,http://www.ninds.nih.gov/disorders/ohtahara/ohtahara.htm,C0393706,T047,Disorders What are the treatments for Ohtahara Syndrome ?,0000113-2,treatment,"Antiepileptic drugs are used to control seizures, but are unfortunately not usually very effective for this disorder. Corticosteroids are occasionally helpful. In cases where there is a focal brain lesion (damage contained to one area of the brain) surgery may be beneficial. Other therapies are symptomatic and supportive.",Ohtahara Syndrome,0000113,NINDS,http://www.ninds.nih.gov/disorders/ohtahara/ohtahara.htm,C0393706,T047,Disorders What is the outlook for Ohtahara Syndrome ?,0000113-3,outlook,"The course of Ohtahara syndrome is severely progressive. Seizures become more frequent, accompanied by delays in physical and cognitive development.Some children will die in infancy; others will survive but be profoundly handicapped. As they grow, some children will progress into other epileptic disorders such as West syndrome and Lennox-Gestaut syndrome.",Ohtahara Syndrome,0000113,NINDS,http://www.ninds.nih.gov/disorders/ohtahara/ohtahara.htm,C0393706,T047,Disorders what research (or clinical trials) is being done for Ohtahara Syndrome ?,0000113-4,research,"The NINDS conducts and supports an extensive research program on seizures and seizure-related disorders. Much of this research is aimed at increasing scientific understanding of these disorders and finding ways to prevent, treat, and potentially cure them.",Ohtahara Syndrome,0000113,NINDS,http://www.ninds.nih.gov/disorders/ohtahara/ohtahara.htm,C0393706,T047,Disorders What is (are) Empty Sella Syndrome ?,0000114-1,information,"Empty Sella Syndrome (ESS) is a disorder that involves the sella turcica, a bony structure at the base of the brain that surrounds and protects the pituitary gland. ESS is often discovered during radiological imaging tests for pituitary disorders. ESS occurs n up to 25 percent of the population.An individual with ESS may have no symptoms or may have symptoms resulting from partial or complete loss of pituitary function (including headaches, low sex drive, and impotence).There are two types of ESS: primary and secondary. Primary ESS happens when a small anatomical defect above the pituitary gland allows spinal fluid to partially or completely fill the sella turcica. This causes the gland to flatten out along the interior walls of the sella turcica cavity. Individuals with primary ESS may have high levels of the hormone prolactin, which can interfere with the normal function of the testicles and ovaries. Primary ESS is most common in adults and women, and is often associated with obesity and high blood pressure. In some instances the pituitary gland may be smaller than usual; this may be due to a condition called pseudotumor cerebri (which means ""false brain tumor,"" brought on by high pressure within the skull), In rare instances this high fluid pressure can be associated with drainage of spinal fluid through the nose. Secondary ESS is the result of the pituitary gland regressing within the cavity after an injury, surgery, or radiation therapy. Individuals with secondary ESS can sometimes have symptoms that reflect the loss of pituitary functions, such as the ceasing of menstrual periods, infertility, fatigue, and intolerance to stress and infection. In children, ESS may be associated with early onset of puberty, growth hormone deficiency, pituitary tumors, or pituitary gland dysfunction. Magnetic resonance imaging (MRI) scans are useful in evaluating ESS and for identifying underlying disorders that may be the cause of high fluid pressure.",Empty Sella Syndrome,0000114,NINDS,http://www.ninds.nih.gov/disorders/emptysella/emptysella.htm,C0014008,T047,Disorders What are the treatments for Empty Sella Syndrome ?,0000114-2,treatment,"Unless the syndrome results in other medical problems, treatment for endocrine dysfunction associated with pituitary malfunction is symptomatic and supportive. Individuals with primary ESS who have high levels of prolactin may be given bromocriptine. In some cases, particularly when spinal fluid drainage is observed, surgery may be needed.",Empty Sella Syndrome,0000114,NINDS,http://www.ninds.nih.gov/disorders/emptysella/emptysella.htm,C0014008,T047,Disorders What is the outlook for Empty Sella Syndrome ?,0000114-3,outlook,"ESS is not a life-threatening condition. Most often, and particularly among those with primary ESS, the disorder does not cause health problems and does not affect life expectancy.",Empty Sella Syndrome,0000114,NINDS,http://www.ninds.nih.gov/disorders/emptysella/emptysella.htm,C0014008,T047,Disorders what research (or clinical trials) is being done for Empty Sella Syndrome ?,0000114-4,research,"The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system, and to use that knowledge to reduce the burden of neurological disease. The NINDS supports and conducts fundamental studies that explore the complex mechanisms of normal brain development and to better understand neurological conditions such as ESS. The knowledge gained from these fundamental studies helps researchers understand neurodevelopment and provides opportunities to more effectively treat and perhaps even prevent, such disorders.",Empty Sella Syndrome,0000114,NINDS,http://www.ninds.nih.gov/disorders/emptysella/emptysella.htm,C0014008,T047,Disorders What is (are) Meningitis and Encephalitis ?,0000115-1,information,"Meningitis is an infection of the meninges, the membranes that surround the brain and spinal cord. Encephalitis is inflammation of the brain itself. Causes of encephalitis and meningitis include viruses, bacteria, fungus, and parasites. Anyone can get encephalitis or meningitis.Inflammation from encephalitis and meningitis produce a wide range of symptoms. Symptoms of encephalitis include sudden fever, headache, vomiting, heightened sensitivity to light, stiff neck and back, confusion and impaired judgment, drowsiness, weak muscles, a clumsy and unsteady gait, and irritability. In more severe cases, people may have problems with speech or hearing, vision problems, and hallucinations. Symptoms that might require emergency treatment include loss of consciousness, seizures, muscle weakness, or sudden severe dementia. Symptoms of meningitis, which may appear suddenly, often include high fever, severe and persistent headache, stiff neck, nausea, sensitivity to bright light, and vomiting. Changes in behavior such as confusion, sleepiness, and difficulty waking up may also occur. In infants, symptoms of meningitis or encephalitis may include fever, vomiting, lethargy, body stiffness, unexplained irritability, and a full or bulging fontanel (the soft spot on the top of the head). Anyone experiencing symptoms of meningitis or encephalitis should see a doctor immediately.",Meningitis and Encephalitis,0000115,NINDS,http://www.ninds.nih.gov/disorders/encephalitis_meningitis/encephalitis_meningitis.htm,C0014038,T047,Disorders What are the treatments for Meningitis and Encephalitis ?,0000115-2,treatment,Anyone experiencing symptoms of meningitis or encephalitis should see a doctor immediately. Antibiotics for most types of meningitis can greatly reduce the risk of dying from the disease. Antiviral medications may be prescribed for viral encephalitis or other severe viral infections.Anticonvulsants are used to prevent or treat seizures. Corticosteroidd rugs can reduce brain swelling and inflammation. Over-the-counter medications may be used for fever and headache. Individuals with encephalitis or bacterial meningitis are usually hospitalized for treatment. Affected individuals with breathing difficulties may require artificial respiration.,Meningitis and Encephalitis,0000115,NINDS,http://www.ninds.nih.gov/disorders/encephalitis_meningitis/encephalitis_meningitis.htm,C0014038,T047,Disorders What is the outlook for Meningitis and Encephalitis ?,0000115-3,outlook,"The prognosis for for people with encephalitis or meningitis varies. Some cases are mild, short and relatively benign and individuals have full recovery, although the process may be slow. Individuals who experience mild symptoms may recover in 2-4 weeks. Other cases are severe, and permanent impairment or death is possible. The acute phase of encephalitis may last for 1 to 2 weeks, with gradual or sudden resolution of fever and neurological symptoms. Individuals treated for bacterial meningitis typically show some relief within 48-72 hours. Neurological symptoms may require many months before full recovery. With early diagnosis and prompt treatment, most individuals recover from meningitis. However, in some cases, the disease progresses so rapidly that death occurs during the first 48 hours, despite early treatment.",Meningitis and Encephalitis,0000115,NINDS,http://www.ninds.nih.gov/disorders/encephalitis_meningitis/encephalitis_meningitis.htm,C0014038,T047,Disorders what research (or clinical trials) is being done for Meningitis and Encephalitis ?,0000115-4,research,"The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. The NINDS is a component of the National Institutes of Health, the leading supporter of biomedical research in the world. Current research efforts include gaining a better understanding of how the central nervous system responds to inflammation in the brain, as well as to better understand the molecular mechanisms involved in the protection and disruption of the blood-brain barrier, which could lead to the development of new treatments for several neuroinflammatory diseases such as meningitis and encephalitis.",Meningitis and Encephalitis,0000115,NINDS,http://www.ninds.nih.gov/disorders/encephalitis_meningitis/encephalitis_meningitis.htm,C0014038,T047,Disorders What is (are) Encephalitis Lethargica ?,0000116-1,information,"Encephalitis lethargica is a disease characterized by high fever, headache, double vision, delayed physical and mental response, and lethargy. In acute cases, patients may enter coma. Patients may also experience abnormal eye movements, upper body weakness, muscular pains, tremors, neck rigidity, and behavioral changes including psychosis. The cause of encephalitis lethargica is unknown. Between 1917 to 1928, an epidemic of encephalitis lethargica spread throughout the world, but no recurrence of the epidemic has since been reported. Postencephalitic Parkinson's disease may develop after a bout of encephalitis-sometimes as long as a year after the illness.",Encephalitis Lethargica,0000116,NINDS,http://www.ninds.nih.gov/disorders/encephalitis_lethargica/encephalitis_lethargica.htm,C0014040,T047,Disorders What are the treatments for Encephalitis Lethargica ?,0000116-2,treatment,Treatment for encephalitis lethargica is symptomatic. Levodopa and other antiparkinson drugs often produce dramatic responses.,Encephalitis Lethargica,0000116,NINDS,http://www.ninds.nih.gov/disorders/encephalitis_lethargica/encephalitis_lethargica.htm,C0014040,T047,Disorders What is the outlook for Encephalitis Lethargica ?,0000116-3,outlook,The course of encephalitis lethargica varies depending upon complications or accompanying disorders.,Encephalitis Lethargica,0000116,NINDS,http://www.ninds.nih.gov/disorders/encephalitis_lethargica/encephalitis_lethargica.htm,C0014040,T047,Disorders what research (or clinical trials) is being done for Encephalitis Lethargica ?,0000116-4,research,"The NINDS supports research on disorders that affect the brain, such as encephalitis lethargica, with the goal of finding ways to prevent and treat them. (The disease was the subject of the book and film, ""Awakenings."")",Encephalitis Lethargica,0000116,NINDS,http://www.ninds.nih.gov/disorders/encephalitis_lethargica/encephalitis_lethargica.htm,C0014040,T047,Disorders What is (are) Encephaloceles ?,0000117-1,information,"Encephaloceles are rare neural tube defects characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull. These defects are caused by failure of the neural tube to close completely during fetal development. The result is a groove down the midline of the upper part of the skull, or the area between the forehead and nose, or the back of the skull. When located in the back of the skull, encephaloceles are often associated with neurological problems. Usually encephaloceles are dramatic deformities diagnosed immediately after birth, but occasionally a small encephalocele in the nasal and forehead region can go undetected. Encephaloceles are often accompanied by craniofacial abnormalities or other brain malformations. Symptoms and associated abnormalities of encephaloceles may include hydrocephalus (excessive accumulation of cerebrospinal fluid in the brain), spastic quadriplegia (paralysis of the arms and legs), microcephaly (abnormally small head), ataxia (uncoordinated movement of the voluntary muscles, such as those involved in walking and reaching), developmental delay, vision problems, mental and growth retardation, and seizures. Some affected children may have normal intelligence. There is a genetic component to the condition; it often occurs in families with a history of spina bifida and anencephaly in family members.",Encephaloceles,0000117,NINDS,http://www.ninds.nih.gov/disorders/encephaloceles/encephaloceles.htm,C0014065,T019,Disorders What are the treatments for Encephaloceles ?,0000117-2,treatment,"Generally, surgery is performed during infancy to place the protruding tissues back into the skull, remove the sac, and correct the associated craniofacial abnormalities. Even large protrusions can often be removed without causing major functional disability. Hydrocephalus associated with encephaloceles may require surgical treatment with a shunt. Other treatment is symptomatic and supportive.",Encephaloceles,0000117,NINDS,http://www.ninds.nih.gov/disorders/encephaloceles/encephaloceles.htm,C0014065,T019,Disorders What is the outlook for Encephaloceles ?,0000117-3,outlook,"The prognosis for individuals with encephaloceles varies depending on the type of brain tissue involved, the location of the sacs, and the accompanying brain malformations.",Encephaloceles,0000117,NINDS,http://www.ninds.nih.gov/disorders/encephaloceles/encephaloceles.htm,C0014065,T019,Disorders what research (or clinical trials) is being done for Encephaloceles ?,0000117-4,research,The NINDS conducts and supports a wide range of studies that explore the complex mechanisms of normal brain development. The knowledge gained from these fundamental studies provides the foundation for understanding how this process can go awry and offers hope for new means to treat and prevent congenital brain disorders including neural tube defects such as encephaloceles.,Encephaloceles,0000117,NINDS,http://www.ninds.nih.gov/disorders/encephaloceles/encephaloceles.htm,C0014065,T019,Disorders What is (are) Encephalopathy ?,0000118-1,information,"Encephalopathy is a term for any diffuse disease of the brain that alters brain function or structure. Encephalopathy may be caused by infectious agent (bacteria, virus, or prion), metabolic or mitochondrial dysfunction, brain tumor or increased pressure in the skull, prolonged exposure to toxic elements (including solvents, drugs, radiation, paints, industrial chemicals, and certain metals), chronic progressive trauma, poor nutrition, or lack of oxygen or blood flow to the brain. The hallmark of encephalopathy is an altered mental state. Depending on the type and severity of encephalopathy, common neurological symptoms are progressive loss of memory and cognitive ability, subtle personality changes, inability to concentrate, lethargy, and progressive loss of consciousness. Other neurological symptoms may include myoclonus (involuntary twitching of a muscle or group of muscles), nystagmus (rapid, involuntary eye movement), tremor, muscle atrophy and weakness, dementia, seizures, and loss of ability to swallow or speak. Blood tests, spinal fluid examination, imaging studies, electroencephalograms, and similar diagnostic studies may be used to differentiate the various causes of encephalopathy.",Encephalopathy,0000118,NINDS,http://www.ninds.nih.gov/disorders/encephalopathy/encephalopathy.htm,C0085584,T047,Disorders What are the treatments for Encephalopathy ?,0000118-2,treatment,"Treatment is symptomatic and varies, according to the type and severity of the encephalopathy. Your physician can provide specific instructions for proper care and treatment. Anticonvulsants may be prescribed to reduce or halt any seizures. Changes to diet and nutritional supplements may help some patients. In severe cases, dialysis or organ replacement surgery may be needed.",Encephalopathy,0000118,NINDS,http://www.ninds.nih.gov/disorders/encephalopathy/encephalopathy.htm,C0085584,T047,Disorders What is the outlook for Encephalopathy ?,0000118-3,outlook,"Treating the underlying cause of the disorder may improve symptoms. However, the encephalopathy may cause permanent structural changes and irreversible damage to the brain. Some encephalopathies can be fatal.",Encephalopathy,0000118,NINDS,http://www.ninds.nih.gov/disorders/encephalopathy/encephalopathy.htm,C0085584,T047,Disorders what research (or clinical trials) is being done for Encephalopathy ?,0000118-4,research,"The NINDS supports and conducts research on brain diseases. Much of this research is aimed at characterizing the agents that cause these disorders, clarifying the mechanisms underlying them, and, ultimately, finding ways to prevent, treat, and cure them.",Encephalopathy,0000118,NINDS,http://www.ninds.nih.gov/disorders/encephalopathy/encephalopathy.htm,C0085584,T047,Disorders What is (are) Sturge-Weber Syndrome ?,0000119-1,information,Sturge-Weber syndrome is a neurological disorder indicated at birth by a port-wine stain birthmark on the forehead and upper eyelid of one side of the face. The birthmark can vary in color from light pink to deep purple and is caused by an overabundance of capillaries around the trigeminal nerve just beneath the surface of the face. Sturge-Weber syndrome is also accompanied by abnormal blood vessels on the brain surface and the loss of nerve cells and calcification of underlying tissue in the cerebral cortex of the brain on the same side of the brain as the birthmark. Neurological symptoms include seizures that begin in infancy and may worsen with age. Convulsions usually happen on the side of the body opposite the birthmark and vary in severity. There may be intermittent or permanent muscle weakness on the same side. Some children will have developmental delays and cognitive impairment; most will have glaucoma (increased pressure within the eye) at birth or developing later. The increased pressure within the eye can cause the eyeball to enlarge and bulge out of its socket (buphthalmos). There is an increased risk for migraine headaches. Sturge-Weber syndrome rarely affects other body organs.,Sturge-Weber Syndrome,0000119,NINDS,http://www.ninds.nih.gov/disorders/sturge_weber/sturge_weber.htm,C0038505,T019,Disorders What are the treatments for Sturge-Weber Syndrome ?,0000119-2,treatment,Treatment for Sturge-Weber syndrome is symptomatic. Laser treatment may be used to lighten or remove the birthmark. Anticonvulsant medications may be used to control seizures. Persons with drug-resistant seizures may be treated by surgical removal of epileptic brain tissue. Surgery may be performed on more serious cases of glaucoma. Physical therapy should be considered for infants and children with muscle weakness. Educational therapy is often prescribed for those with impaired cognition or developmental delays. Doctors recommend yearly monitoring for glaucoma.,Sturge-Weber Syndrome,0000119,NINDS,http://www.ninds.nih.gov/disorders/sturge_weber/sturge_weber.htm,C0038505,T019,Disorders What is the outlook for Sturge-Weber Syndrome ?,0000119-3,outlook,"Although it is possible for the birthmark and atrophy in the cerebral cortex to be present without symptoms, most infants will develop convulsive seizures during their first year of life. There is a greater likelihood of intellectual impairment when seizures start before the age of 2 and are resistant to treatment. Prognosis is worst in the minority of children who have both sides of the brain affected by the blood vessel abnormalities.",Sturge-Weber Syndrome,0000119,NINDS,http://www.ninds.nih.gov/disorders/sturge_weber/sturge_weber.htm,C0038505,T019,Disorders what research (or clinical trials) is being done for Sturge-Weber Syndrome ?,0000119-4,research,"The NINDS supports a broad program of research to better understand congenital seizure disorders. This research is aimed at developing techniques to diagnose, treat, prevent, and ultimately cure disorders such as Sturge-Weber syndrome.",Sturge-Weber Syndrome,0000119,NINDS,http://www.ninds.nih.gov/disorders/sturge_weber/sturge_weber.htm,C0038505,T019,Disorders What is (are) Epilepsy ?,0000120-1,information,"The epilepsies are a spectrum of brain disorders ranging from severe, life-threatening and disabling, to ones that are much more benign. In epilepsy, the normal pattern of neuronal activity becomes disturbed, causing strange sensations, emotions, and behavior or sometimes convulsions, muscle spasms, and loss of consciousness. The epilepsies have many possible causes and there are several types of seizures. Anything that disturbs the normal pattern of neuron activityfrom illness to brain damage to abnormal brain developmentcan lead to seizures. Epilepsy may develop because of an abnormality in brain wiring, an imbalance of nerve signaling chemicals called neurotransmitters, changes in important features of brain cells called channels, or some combination of these and other factors. Having a single seizure as the result of a high fever (called febrile seizure) or head injury does not necessarily mean that a person has epilepsy. Only when a person has had two or more seizures is he or she considered to have epilepsy. A measurement of electrical activity in the brain and brain scans such as magnetic resonance imaging or computed tomography are common diagnostic tests for epilepsy.",Epilepsy,0000120,NINDS,http://www.ninds.nih.gov/disorders/epilepsy/epilepsy.htm,C0014544,T047,Disorders What are the treatments for Epilepsy ?,0000120-2,treatment,"Once epilepsy is diagnosed, it is important to begin treatment as soon as possible. For about 70 percent of those diagnosed with epilepsy, seizures can be controlled with modern medicines and surgical techniques. Some drugs are more effective for specific types of seizures. An individual with seizures, particularly those that are not easily controlled, may want to see a neurologist specifically trained to treat epilepsy. In some children, special diets may help to control seizures when medications are either not effective or cause serious side effects.",Epilepsy,0000120,NINDS,http://www.ninds.nih.gov/disorders/epilepsy/epilepsy.htm,C0014544,T047,Disorders What is the outlook for Epilepsy ?,0000120-3,outlook,"While epilepsy cannot be cured, for some people the seizures can be controlled with medication, diet, devices, and/or surgery. Most seizures do not cause brain damage, but ongoing uncontrolled seizures may cause brain damage. It is not uncommon for people with epilepsy, especially children, to develop behavioral and emotional problems in conjunction with seizures. Issues may also arise as a result of the stigma attached to having epilepsy, which can led to embarrassment and frustration or bullying, teasing, or avoidance in school and other social settings. For many people with epilepsy, the risk of seizures restricts their independence (some states refuse drivers licenses to people with epilepsy) and recreational activities. Epilepsy can be a life-threatening condition. Some people with epilepsy are at special risk for abnormally prolonged seizures or sudden unexplained death in epilepsy.",Epilepsy,0000120,NINDS,http://www.ninds.nih.gov/disorders/epilepsy/epilepsy.htm,C0014544,T047,Disorders what research (or clinical trials) is being done for Epilepsy ?,0000120-4,research,"Scientists are studying the underlying causes of the epilepsies in children, adults, and the elderly, as well as seizures that occur following brain trauma, stroke, and brain tumors. Ongoing research is focused on developing new model systems that can be used to more quickly screen potential new treatments for the epilepsies. The identification of genes or other genetic information that may influence or cause the epilepsies may allow doctors to prevent the disorders or to predict which treatments will be most beneficial to individuals with specific types of epilepsy. Scientists also continue to study how neurotransmitters interact with brain cells to control nerve firing and how non-neuronal cells in the brain contribute to seizures. Researchers funded by the National Institutes of Health have developed a flexible brain implant that could one day be used to treat seizures. Scientists are continually improving MRI and other brain scans that may assist in diagnosing the epilepsies and identify the source, or focus, of the seizures in the brain. Other areas of study include prevention of seizures and the role of inflammation in epilepsy. Patients may enter trials of experimental drugs and surgical interventions. More about epilepsy research",Epilepsy,0000120,NINDS,http://www.ninds.nih.gov/disorders/epilepsy/epilepsy.htm,C0014544,T047,Disorders What is (are) Todd's Paralysis ?,0000121-1,information,"Todd's paralysis is a neurological condition experienced by individuals with epilepsy, in which a seizure is followed by a brief period of temporary paralysis. The paralysis may be partial or complete but usually occurs on just one side of the body. The paralysis can last from half an hour to 36 hours, with an average of 15 hours, at which point it resolves completely. Todd's paralysis may also affect speech and vision. Scientists don't know what causes Todd's paralysis. Current theories propose biological processes in the brain that involve a slow down in either the energy output of neurons or in the motor centers of the brain. It is important to distinguish Todd's paralysis from a stroke, which it can resemble, because a stroke requires completely different treatment.",Todd's Paralysis,0000121,NINDS,http://www.ninds.nih.gov/disorders/toddsparalysis/toddsparalysis.htm,C0234544,T033,Disorders What are the treatments for Todd's Paralysis ?,0000121-2,treatment,There is no treatment for Todd's paralysis. Individuals must rest as comfortably as possible until the paralysis disappears.,Todd's Paralysis,0000121,NINDS,http://www.ninds.nih.gov/disorders/toddsparalysis/toddsparalysis.htm,C0234544,T033,Disorders What is the outlook for Todd's Paralysis ?,0000121-3,outlook,Todd's paralysis is an indication that an individual has had an epileptic seizure. The outcome depends on the effects of the seizure and the subsequent treatment of the epilepsy.,Todd's Paralysis,0000121,NINDS,http://www.ninds.nih.gov/disorders/toddsparalysis/toddsparalysis.htm,C0234544,T033,Disorders what research (or clinical trials) is being done for Todd's Paralysis ?,0000121-4,research,"The National Institute of Neurological Disorders and Stroke (NINDS) conducts research related to Todd's paralysis in its clinics and laboratories at The National Institutes of Health (NIH), and supports additional research through grants to major medical institutions across the country. Much of this research focuses on finding successful methods to prevent Todd's paralysis in individuals with epilepsy.",Todd's Paralysis,0000121,NINDS,http://www.ninds.nih.gov/disorders/toddsparalysis/toddsparalysis.htm,C0234544,T033,Disorders What is (are) Essential Tremor ?,0000122-1,information,"Tremor is an unintentional, somewhat rhythmic, muscle movement involving to-and-fro movements (oscillations) of one or more parts of the body. Essential tremor (previously called benign essential tremor) is the most common form of abnormal tremor. (In some people, tremor is a symptom of a neurological disorder or appears as a side effect of certain drugs.) Although it may be mild and nonprogressive in some people, in others the tremor is slowly progressive, starting on one side of the body but eventually affecting both sides. Hand tremor is most common but the head, arms, voice, tongue, legs, and trunk may also be involved. Hand tremor may cause problems with purposeful movements such as eating, writing, sewing, or shaving. Head tremor may be seen as a ""yes-yes"" or ""no-no"" motion. Essential tremor may be accompanied by mild gait disturbance. Heightened emotion, stress, fever, physical exhaustion, or low blood sugar may trigger tremors or increase their severity. There may be mild degeneration in the certain parts of the cerebellum in persons with essential tremor. Onset is most common after age 40, although symptoms can appear at any age. Children of a parent who has essential tremor have up to a 50 percent chance of inheriting the condition. Essential tremor is not associated with any known pathology.",Essential Tremor,0000122,NINDS,http://www.ninds.nih.gov/disorders/essential_tremor/essential_tremor.htm,C3543433,T047,Disorders What are the treatments for Essential Tremor ?,0000122-2,treatment,"There is no definitive cure for essential tremor. Symptomatic drug therapy may include propranolol or other beta blockers and primidone, an anticonvulsant drug. Eliminating tremor ""triggers"" such as caffeine and other stimulants from the diet is often recommended. Physical and occupational therapy may help to reduce tremor and improve coordination and muscle control for some individuals. Deep brain stimulation uses a surgically implanted, battery-operated medical device called a neurostimulator to delivery electrical stimulation to targeted areas of the brain that control movement, temporarily blocking the nerve signals that cause tremor. Other surgical intervention is effective but may have side effects.",Essential Tremor,0000122,NINDS,http://www.ninds.nih.gov/disorders/essential_tremor/essential_tremor.htm,C3543433,T047,Disorders What is the outlook for Essential Tremor ?,0000122-3,outlook,"Although essential tremor is not life-threatening, it can make it harder to perform daily tasks and is embarrassing to some people. Tremor frequency may decrease as the person ages, but the severity may increase, affecting the person's ability to perform certain tasks or activities of daily living. In many people the tremor may be mild throughout life.",Essential Tremor,0000122,NINDS,http://www.ninds.nih.gov/disorders/essential_tremor/essential_tremor.htm,C3543433,T047,Disorders what research (or clinical trials) is being done for Essential Tremor ?,0000122-4,research,"The National Institute of Neurological Disorders and Stroke, a unit of the National Institutes of Health (NIH) within the U.S. Department of Health and Human Services, is the nation's leading federal funder of research on disorders of the brain and nervous system. The NINDS sponsors research on tremor both at its facilities at the NIH and through grants to medical centers. Scientists at the NINDS are evaluating the effectiveness of 1-octanol, a substance similar to alcohol but less intoxicating, for treating essential tremor. Results of two previous NIH studies have shown this agent to be promising as a potential new treatment. Scientists are also studying the effectiveness of botulinum toxin as a treatment for a variety of involuntary movement disorders, including essential tremor of the hand.",Essential Tremor,0000122,NINDS,http://www.ninds.nih.gov/disorders/essential_tremor/essential_tremor.htm,C3543433,T047,Disorders What is (are) Fabry Disease ?,0000123-1,information,"Fabry disease is caused by the lack of or faulty enzyme needed to metabolize lipids, fat-like substances that include oils, waxes, and fatty acids. The disease is also called alpha-galactosidase-A deficiency. A mutation in the gene that controls this enzyme causes insufficient breakdown of lipids, which build up to harmful levels in the autonomic nervous system (which controls involuntary functions such as breathing and digestion), cardiovascular system, eyes, and kidneys. Symptoms usually begin during childhood or adolescence and include burning sensations in the arms and legs that gets worse with exercise and hot weather and small, non-cancerous, raised reddish-purple blemishes on the skin. Excess material buildup can lead to clouding in the corneas. Lipid storage may lead to impaired blood circulation and increased risk of heart attack or stroke. The heart may also become enlarged and the kidneys may become progressively impaired, leading to renal failure. Other signs include decreased sweating, fever, and gastrointestinal difficulties.Fabry disease is the only X-linked lipid storage disease (where the mother carries the affected gene on the X chromosome that determines the child's gender and passes it to her son). Boys have a 50 percent chance of inheriting the disorder and her daughters have a 50 percent chance of being a carrier. A milder form is common in females, and occasionally some affected females may have severe symptoms similar to males with the disorder.",Fabry Disease,0000123,NINDS,http://www.ninds.nih.gov/disorders/fabrys/fabrys.htm,C0002986,T047,Disorders What are the treatments for Fabry Disease ?,0000123-2,treatment,"Enzyme replacement therapy has been approved by the U.S. Food and Drug Administration for the treatment of Fabry disease. Enzyme replacement therapy can reduce lipid storage, ease pain, and preserve organ function in some individuals with the disorder. The pain that accompanies the disease may be treated with anticonvulsants. Gastrointestinal hyperactivity may be treated with metoclopramide. Some individuals may require dialysis or kidney transplantation. Restricting one's diet does not prevent lipid buildup in cells and tissues.",Fabry Disease,0000123,NINDS,http://www.ninds.nih.gov/disorders/fabrys/fabrys.htm,C0002986,T047,Disorders What is the outlook for Fabry Disease ?,0000123-3,outlook,"Individuals with Fabry disease often die prematurely of complications from strokes, heart disease, or kidney failure.",Fabry Disease,0000123,NINDS,http://www.ninds.nih.gov/disorders/fabrys/fabrys.htm,C0002986,T047,Disorders what research (or clinical trials) is being done for Fabry Disease ?,0000123-4,research,"The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system and to use that knowledge to reduce the burden of neurological disease.The NINDS supports research to find ways to treat and prevent lipid storage diseases such as Fabry disease. Researchers hope to identify biomarkers -- signs that may indicate risk of a disease and improve diagnosis -- for Fabry disease and other lipid storage diseases that will speed the development of novel therapeutics for these disorders. One NINDS-funded project is evaluating a rat model of Fabry disease, through which researchers hope to develop new proteins to increase the potency of enzyme replacement therapy.",Fabry Disease,0000123,NINDS,http://www.ninds.nih.gov/disorders/fabrys/fabrys.htm,C0002986,T047,Disorders What is (are) Fahr's Syndrome ?,0000124-1,information,"Fahr's Syndrome is a rare, genetically dominant, inherited neurological disorder characterized by abnormal deposits of calcium in areas of the brain that control movement, including the basal ganglia and the cerebral cortex. Symptoms of the disorder may include deterioration of motor function, dementia, seizures, headache, dysarthria (poorly articulated speech), spasticity (stiffness of the limbs) and spastic paralysis, eye impairments, and athetosis (involuntary, writhing movements). Fahr's Syndrome can also include symptoms characteristic of Parkinson's disease such as tremors, muscle rigidity, a mask-like facial appearance, shuffling gait, and a ""pill-rolling"" motion of the fingers. These symptoms generally occur later in the development of the disease. More common symptoms include dystonia (disordered muscle tone) and chorea (involuntary, rapid, jerky movements). Age of onset is typically in the 40s or 50s, although it can occur at any time in childhood or adolescence.",Fahr's Syndrome,0000124,NINDS,http://www.ninds.nih.gov/disorders/fahrs/fahrs.htm,C0393590,T047,Disorders What are the treatments for Fahr's Syndrome ?,0000124-2,treatment,"There is no cure for Fahr's Syndrome, nor is there a standard course of treatment. Treatment addresses symptoms on an individual basis.",Fahr's Syndrome,0000124,NINDS,http://www.ninds.nih.gov/disorders/fahrs/fahrs.htm,C0393590,T047,Disorders What is the outlook for Fahr's Syndrome ?,0000124-3,outlook,"The prognosis for any individual with Fahr's Syndrome is variable and hard to predict. There is no reliable correlation between age, extent of calcium deposits in the brain, and neurological deficit. Since the appearance of calcification is age-dependent, a CT scan could be negative in a gene carrier who is younger than the age of 55.",Fahr's Syndrome,0000124,NINDS,http://www.ninds.nih.gov/disorders/fahrs/fahrs.htm,C0393590,T047,Disorders what research (or clinical trials) is being done for Fahr's Syndrome ?,0000124-4,research,The NINDS supports and conducts research on neurogenetic disorders such as Fahr's Syndrome. The goals of this research are to locate and understand the actions of the genes involved in this disorder. Finding these genes could lead to effective ways to treat and prevent Fahr's Syndrome.,Fahr's Syndrome,0000124,NINDS,http://www.ninds.nih.gov/disorders/fahrs/fahrs.htm,C0393590,T047,Disorders What is (are) Syncope ?,0000125-1,information,"Syncope is a medical term used to describe a temporary loss of consciousness due to the sudden decline of blood flow to the brain. Syncope is commonly called fainting or passing out. If an individual is about to faint, he or she will feel dizzy, lightheaded, or nauseous and their field of vision may white out or black out. The skin may be cold and clammy. The person drops to the floor as he or she loses consciousness. After fainting, an individual may be unconscious for a minute or two, but will revive and slowly return to normal. Syncope can occur in otherwise healthy people and affects all age groups, but occurs more often in the elderly. Vasovagal Carotid sinus Situational",Syncope,0000125,NINDS,http://www.ninds.nih.gov/disorders/syncope/syncope.htm,C0039070,T184,Disorders What are the treatments for Syncope ?,0000125-2,treatment,"The immediate treatment for an individual who has fainted involves checking first to see if their airway is open and they are breathing. The person should remain lying down for at least 10-15 minutes, preferably in a cool and quiet space. If this isnt possible, have the individual sit forward and lower their head below their shoulders and between their knees. Ice or cold water in a cup is refreshing. For individuals who have problems with chronic fainting spells, therapy should focus on recognizing the triggers and learning techniques to keep from fainting. At the appearance of warning signs such as lightheadedness, nausea, or cold and clammy skin, counter-pressure maneuvers that involve gripping fingers into a fist, tensing the arms, and crossing the legs or squeezing the thighs together can be used to ward off a fainting spell. If fainting spells occur often without a triggering event, syncope may be a sign of an underlying heart disease.",Syncope,0000125,NINDS,http://www.ninds.nih.gov/disorders/syncope/syncope.htm,C0039070,T184,Disorders What is the outlook for Syncope ?,0000125-3,outlook,"Syncope is a dramatic event and can be life-threatening if not treated properly. Generally, however, people recover completely within minutes to hours. If syncope is symptomatic of an underlying condition, then the prognosis will reflect the course of the disorder.",Syncope,0000125,NINDS,http://www.ninds.nih.gov/disorders/syncope/syncope.htm,C0039070,T184,Disorders what research (or clinical trials) is being done for Syncope ?,0000125-4,research,The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research related to syncope in laboratories at the NIH and support additional research through grants to major medical institutions across the country. Much of this research focuses on finding better ways to prevent and treat syncope.,Syncope,0000125,NINDS,http://www.ninds.nih.gov/disorders/syncope/syncope.htm,C0039070,T184,Disorders What is (are) Familial Periodic Paralyses ?,0000126-1,information,"Familial periodic paralyses are a group of inherited neurological disorders caused by mutations in genes that regulate sodium and calcium channels in nerve cells. They are characterized by episodes in which the affected muscles become slack, weak, and unable to contract. Between attacks, the affected muscles usually work as normal. The two most common types of periodic paralyses are: Hypokalemic periodic paralysis is characterized by a fall in potassium levels in the blood. In individuals with this mutation attacks often begin in adolescence and are triggered by strenuous exercise, high carbohydrate meals, or by injection of insulin, glucose, or epinephrine. Weakness may be mild and limited to certain muscle groups, or more severe and affect the arms and legs. Attacks may last for a few hours or persist for several days. Some patients may develop chronic muscle weakness later in life. Hyperkalemic periodic paralysis is characterized by a rise in potassium levels in the blood. Attacks often begin in infancy or early childhood and are precipitated by rest after exercise or by fasting. Attacks are usually shorter, more frequent, and less severe than the hypokalemic form. Muscle spasms are common.",Familial Periodic Paralyses,0000126,NINDS,http://www.ninds.nih.gov/disorders/periodic_paralysis/periodic_paralysis.htm,C0522224,T033,Disorders What are the treatments for Familial Periodic Paralyses ?,0000126-2,treatment,"Treatment of the periodic paralyses focuses on preventing further attacks and relieving acute symptoms. Avoiding carbohydrate-rich meals and strenuous exercise, and taking acetazolamide daily may prevent hypokalemic attacks. Attacks can be managed by drinking a potassium chloride oral solution. Eating carbohydrate-rich, low-potassium foods, and avoiding strenuous exercise and fasting, can help prevent hyperkalemic attacks. Dichorphenamide may prevent attacks.",Familial Periodic Paralyses,0000126,NINDS,http://www.ninds.nih.gov/disorders/periodic_paralysis/periodic_paralysis.htm,C0522224,T033,Disorders What is the outlook for Familial Periodic Paralyses ?,0000126-3,outlook,"The prognosis for the familial periodic paralyses varies. Chronic attacks may result in progressive weakness that persists between attacks. Some cases respond well to treatment, which can prevent or reverse progressive muscle weakness.",Familial Periodic Paralyses,0000126,NINDS,http://www.ninds.nih.gov/disorders/periodic_paralysis/periodic_paralysis.htm,C0522224,T033,Disorders what research (or clinical trials) is being done for Familial Periodic Paralyses ?,0000126-4,research,"The NINDS conducts and supports research on neuromuscular disorders such as the familial periodic paralyses. These studies are aimed at increasing knowledge about these disorders and finding ways to prevent, treat, and cure them.",Familial Periodic Paralyses,0000126,NINDS,http://www.ninds.nih.gov/disorders/periodic_paralysis/periodic_paralysis.htm,C0522224,T033,Disorders What is (are) Hereditary Spastic Paraplegia ?,0000127-1,information,"Hereditary spastic paraplegia (HSP), also called familial spastic paraparesis (FSP), refers to a group of inherited disorders that are characterized by progressive weakness and spasticity (stiffness) of the legs. Early in the disease course, there may be mild gait difficulties and stiffness. These symptoms typically slowly progress so that eventually individuals with HSP may require the assistance of a cane, walker, or wheelchair. Though the primary features of ""pure"" HSP are progressive lower limb spasticity and weakness, complicated forms may be accompanied by other symptoms. These additional symptoms include impaired vision due to cataracts and problems with the optic nerve and retina of the eye, ataxia (lack of muscle coordination), epilepsy, cognitive impairment, peripheral neuropathy, and deafness. The diagnosis of HSP is primarily by neurological examination and testing to rule out other disorders. Brain MRI abnormalities, such as a thin corpus callosum, may be seen in some of the complicated forms of HSP. Several genetic mutations have been identified which underlie various forms of HSP, and specialized genetic testing and diagnosis are available at some medical centers. HSP has several forms of inheritance. Not all children in a family will necessarily develop symptoms, although they may be carriers of the abnormal gene. Symptoms may begin in childhood or adulthood, depending on the particular HSP gene involved.",Hereditary Spastic Paraplegia,0000127,NINDS,http://www.ninds.nih.gov/disorders/hereditary_spastic_paraplegia/hereditary_spastic_paraplegia.htm,C0037772,T047,Disorders What are the treatments for Hereditary Spastic Paraplegia ?,0000127-2,treatment,"There are no specific treatments to prevent, slow, or reverse HSP. Symptomatic treatments used for spasticity, such as muscle relaxants, are sometimes helpful. Regular physical therapy is important for muscle strength and to preserve range of motion.",Hereditary Spastic Paraplegia,0000127,NINDS,http://www.ninds.nih.gov/disorders/hereditary_spastic_paraplegia/hereditary_spastic_paraplegia.htm,C0037772,T047,Disorders What is the outlook for Hereditary Spastic Paraplegia ?,0000127-3,outlook,The prognosis for individuals with HSP varies Some individuals are very disabled and others have only mild disability. The majority of individuals with uncomplicated HSP have a normal life expectancy.,Hereditary Spastic Paraplegia,0000127,NINDS,http://www.ninds.nih.gov/disorders/hereditary_spastic_paraplegia/hereditary_spastic_paraplegia.htm,C0037772,T047,Disorders what research (or clinical trials) is being done for Hereditary Spastic Paraplegia ?,0000127-4,research,"The NINDS supports research on genetic disorders such as HSP. More than 30 genes that are responsible for several forms of HSP have been identified, and many more will likely be identified in the future. These genes generally encode proteins that normally help maintain the function of axons in the spinal cord. Understanding how mutations of these genes cause HSP should lead to ways to prevent, treat, and cure HSP.",Hereditary Spastic Paraplegia,0000127,NINDS,http://www.ninds.nih.gov/disorders/hereditary_spastic_paraplegia/hereditary_spastic_paraplegia.htm,C0037772,T047,Disorders What is (are) Febrile Seizures ?,0000128-1,information,"Febrile seizures are convulsions or seizures in infants or small children that are brought on by a fever. Most often during a febrile seizure, a child loses consciousness and shakes uncontrollably. Less commonly, a child becomes rigid or has twitches in only a portion of the body. Most febrile seizures last a minute or two; some can be as brief as a few seconds, while others may last for more than 15 minutes. Approximately one in every 25 children will have at least one febrile seizure. Febrile seizures usually occur in children between the ages of 6 months and 5 years, with the risk peaking in the second year of life. The older a child is when the first febrile seizure occurs, the less likely that child is to have more. A few factors appear to boost a child's risk of having recurrent febrile seizures, including young age (less than 18 months) during the first seizures and having immediate family members with a history of febrile seizures.",Febrile Seizures,0000128,NINDS,http://www.ninds.nih.gov/disorders/febrile_seizures/febrile_seizures.htm,C0009952,T047,Disorders What are the treatments for Febrile Seizures ?,0000128-2,treatment,"A child who has a febrile seizure usually doesn't need to be hospitalized. If the seizure is prolonged or is accompanied by a serious infection, or if the source of the infection cannot be determined, a doctor may recommend that the child be hospitalized for observation. Prolonged daily use of anti-seizure medicines is usually not recommended because of their potential for harmful side effects. Children especially prone to febrile seizures may be treated with medication when they have a fever to lower the risk of having another febrile seizure.",Febrile Seizures,0000128,NINDS,http://www.ninds.nih.gov/disorders/febrile_seizures/febrile_seizures.htm,C0009952,T047,Disorders What is the outlook for Febrile Seizures ?,0000128-3,outlook,"The vast majority of febrile seizures are short and harmless. There is no evidence that short febrile seizures cause brain damage. Multiple or prolonged seizures are a risk factor for epilepsy but most children who experience febrile seizures do not go on to develop the reoccurring seizures that re characteristic of epilepsy. Certain children who have febrile seizures face an increased risk of developing epilepsy. These children include those who have a febrile seizure that lasts longer than 10 minutes, who have febrile seizures that are lengthy or affect only one part of the body, or experience seizures that reoccur within 24 hours..",Febrile Seizures,0000128,NINDS,http://www.ninds.nih.gov/disorders/febrile_seizures/febrile_seizures.htm,C0009952,T047,Disorders what research (or clinical trials) is being done for Febrile Seizures ?,0000128-4,research,"The National Institute of Neurological Disorders and Stroke (NINDS) conducts research on seizures at its research center in Bethesda, Maryland, and through grants to major medical institutions across the country. NINDS-supported scientists are exploring environmental, biological, and genetic risk factors that might make children susceptible to febrile seizures. Investigators continue to monitor the long-term impact that febrile seizures might have on intelligence, behavior, school achievement, and the development of epilepsy. Investigators also continue to explore which drugs can effectively treat or prevent febrile seizures, and to identify factors that may cause a child who has prolonged febrile seizures to develop temporal lobe epilepsy.",Febrile Seizures,0000128,NINDS,http://www.ninds.nih.gov/disorders/febrile_seizures/febrile_seizures.htm,C0009952,T047,Disorders What is (are) Fibromuscular Dysplasia ?,0000129-1,information,"Fibromuscular dysplasia (FMD) is the abnormal development or growth of cells in the walls of arteries that can cause the vessels to narrow or bulge. The carotid arteries, which pass through the neck and supply blood to the brain, are commonly affected. Arteries within the brain and kidneys can also be affected. A characteristic string of beads pattern caused by the alternating narrowing and enlarging of the artery can block or reduce blood flow to the brain, causing a stroke or mini-stroke. Some patients experience no symptoms of the disease while others may have high blood pressure, dizziness or vertigo, chronic headache, intracranial aneurysm, ringing in the ears, weakness or numbness in the face, neck pain, or changes in vision. FMD is most often seen in persons age 25 to 50 years and affects women more often than men. More than one family member may be affected by the disease. The cause of FMD is unknown. An angiogram can detect the degree of narrowing or obstruction of the artery and identify changes such as a tear (dissection) or weak area (aneurysm) in the vessel wall. FMD can also be diagnosed using computed tomography, magnetic resonance imaging, or ultrasound.",Fibromuscular Dysplasia,0000129,NINDS,http://www.ninds.nih.gov/disorders/fibromuscular_dysplasia/fibromuscular_dysplasia.htm,C0016052,T047,Disorders What are the treatments for Fibromuscular Dysplasia ?,0000129-2,treatment,"There is no standard protocol to treat FMD. Any treatment to improve blood flow is based on the arteries affected and the progression and severity of the disease. The carotid arteries should be tested if FMD is found elsewhere in the body since carotid involvement is linked to an increased risk of stroke. Patients with minimal narrowing may take a daily antiplatelet such as an aspirin or an anticoagulant to thin the blood and reduce the chances that a clot might form. Medications such as aspirin can also be taken for headache and neck pain, symptoms that can come from FMD. Patients with arterial disease who smoke should be encouraged to quit as smoking worsens the disease. Further treatment may include angioplasty, in which a small balloon is inserted through a catheter and inflated to open the artery. Small tubes called stents may be inserted to keep arteries open. Surgery may be needed to treat aneurysms that have the potential to rupture and cause bleeding within the brain.",Fibromuscular Dysplasia,0000129,NINDS,http://www.ninds.nih.gov/disorders/fibromuscular_dysplasia/fibromuscular_dysplasia.htm,C0016052,T047,Disorders What is the outlook for Fibromuscular Dysplasia ?,0000129-3,outlook,"Currently there is no cure for FMD. Medicines and angioplasty can reduce the risk of initial or recurrent stroke. In rare cases, FMD-related aneurysms can burst and bleed into the brain, causing stroke, permanent nerve damage, or death.",Fibromuscular Dysplasia,0000129,NINDS,http://www.ninds.nih.gov/disorders/fibromuscular_dysplasia/fibromuscular_dysplasia.htm,C0016052,T047,Disorders what research (or clinical trials) is being done for Fibromuscular Dysplasia ?,0000129-4,research,"The National Institute of Neurological Disorders and Stroke (NINDS), a component of the National Institutes of Health (NIH) within the U.S. Department of Health and Human Services, is the nations primary funding source for research on the brain and nervous system. The NINDS conducts research on stroke and vascular lesions of the nervous system and supports studies through grants to medical institutions across the country.",Fibromuscular Dysplasia,0000129,NINDS,http://www.ninds.nih.gov/disorders/fibromuscular_dysplasia/fibromuscular_dysplasia.htm,C0016052,T047,Disorders What is (are) Miller Fisher Syndrome ?,0000130-1,information,"Miller Fisher syndrome is a rare, acquired nerve disease that is considered to be a variant of Guillain-Barr syndrome. It is characterized by abnormal muscle coordination, paralysis of the eye muscles, and absence of the tendon reflexes. Like Guillain-Barr syndrome, symptoms may be preceded by a viral illness. Additional symptoms include generalized muscle weakness and respiratory failure. The majority of individuals with Miller Fisher syndrome have a unique antibody that characterizes the disorder.",Miller Fisher Syndrome,0000130,NINDS,http://www.ninds.nih.gov/disorders/miller_fisher/miller_fisher.htm,C0393799,T047,Disorders What are the treatments for Miller Fisher Syndrome ?,0000130-2,treatment,Treatment for Miller Fisher syndrome is identical to treatment for Guillain-Barr syndrome: intravenous immunoglobulin (IVIg) or plasmapheresis (a procedure in which antibodies are removed from the blood) and supportive care.,Miller Fisher Syndrome,0000130,NINDS,http://www.ninds.nih.gov/disorders/miller_fisher/miller_fisher.htm,C0393799,T047,Disorders What is the outlook for Miller Fisher Syndrome ?,0000130-3,outlook,"The prognosis for most individuals with Miller Fisher syndrome is good. In most cases, recovery begins within 2 to 4 weeks of the onset of symptoms, and may be almost complete within 6 months. Some individuals are left with residual deficits. Relapses may occur rarely (in less than 3 percent of cases).",Miller Fisher Syndrome,0000130,NINDS,http://www.ninds.nih.gov/disorders/miller_fisher/miller_fisher.htm,C0393799,T047,Disorders what research (or clinical trials) is being done for Miller Fisher Syndrome ?,0000130-4,research,"The NINDS supports research aimed at discovering new ways to diagnose, treat, and, ultimately, cure neuropathies such as Miller Fisher syndrome.",Miller Fisher Syndrome,0000130,NINDS,http://www.ninds.nih.gov/disorders/miller_fisher/miller_fisher.htm,C0393799,T047,Disorders What is (are) Hypotonia ?,0000131-1,information,"Hypotonia is a medical term used to describe decreased muscle tone. Normally, even when relaxed, muscles have a very small amount of contraction that gives them a springy feel and provides some resistance to passive movement. It is not the same as muscle weakness, although the two conditions can co-exist. Muscle tone is regulated by signals that travel from the brain to the nerves and tell the muscles to contract. Hypotonia can happen from damage to the brain, spinal cord, nerves, or muscles. The damage can be the result of trauma, environmental factors, or genetic, muscle, or central nervous system disorders. For example, it can be seen in Down syndrome, muscular dystrophy, cerebral palsy, Prader-Willi syndrome, myotonic dystrophy, and Tay-Sachs disease. Sometimes it may not be possible to find what causes the hypotonia. Infants with hypotonia have a floppy quality or rag doll appearance because their arms and legs hang by their sides and they have little or no head control. Other symptoms of hypotonia include problems with mobility and posture, breathing and speech difficulties, ligament and joint laxity, and poor reflexes. Hypotonia does not affect intellect. The opposite of hypotonia is hypertonia.",Hypotonia,0000131,NINDS,http://www.ninds.nih.gov/disorders/hypotonia/hypotonia.htm,C0026827,T033,Disorders What are the treatments for Hypotonia ?,0000131-2,treatment,"Treatment begins with a thorough diagnostic evaluation, usually performed by a neurologist, including an assessment of motor and sensory skills, balance and coordination, mental status, reflexes, and functioning of the nerves. Diagnostic tests that may be helpful include a CT or MRI scan of the brain, an EMG to evaluate nerve and muscle function, or an EEG to measure electrical activity in the brain. Once a diagnosis has been made, the underlying condition is treated first, followed by symptomatic and supportive therapy for the hypotonia. Physical therapy can improve motor control and overall body strength. Occupational therapy can help relearn ways to address activities of daily living. Speech-language therapy can help breathing, speech, and swallowing difficulties. Therapy for infants and young children may also include sensory stimulation programs.",Hypotonia,0000131,NINDS,http://www.ninds.nih.gov/disorders/hypotonia/hypotonia.htm,C0026827,T033,Disorders What is the outlook for Hypotonia ?,0000131-3,outlook,"Hypotonia can be a life-long condition. In some cases, however, muscle tone improves over time.",Hypotonia,0000131,NINDS,http://www.ninds.nih.gov/disorders/hypotonia/hypotonia.htm,C0026827,T033,Disorders what research (or clinical trials) is being done for Hypotonia ?,0000131-4,research,"The NINDS supports research on conditions that can result from neurological disorders, such as hypotonia. Much of this research is aimed at learning more about these conditions and finding ways to prevent and treat them.",Hypotonia,0000131,NINDS,http://www.ninds.nih.gov/disorders/hypotonia/hypotonia.htm,C0026827,T033,Disorders What is (are) Foot Drop ?,0000132-1,information,"Foot drop describes the inability to raise the front part of the foot due to weakness or paralysis of the muscles that lift the foot. As a result, individuals with foot drop scuff their toes along the ground or bend their knees to lift their foot higher than usual to avoid the scuffing, which causes what is called a steppage gait. Foot drop can be unilateral (affecting one foot) or bilateral (affecting both feet). Foot drop is a symptom of an underlying problem and is either temporary or permanent, depending on the cause. Causes include: neurodegenerative disorders of the brain that cause muscular problems, such as multiple sclerosis, stroke, and cerebral palsy; motor neuron disorders such as polio, some forms of spinal muscular atrophy and amyotrophic lateral sclerosis (commonly known as Lou Gehrigs disease); injury to the nerve roots, such as in spinal stenosis; peripheral nerve disorders such as Charcot-Marie-Tooth disease or acquired peripheral neuropathy; local compression or damage to the peroneal nerve as it passes across the fibular bone below the knee; and muscle disorders, such as muscular dystrophy or myositis.",Foot Drop,0000132,NINDS,http://www.ninds.nih.gov/disorders/foot_drop/foot_drop.htm,C0085684,T047,Disorders What are the treatments for Foot Drop ?,0000132-2,treatment,"Treatment depends on the specific cause of foot drop. The most common treatment is to support the foot with light-weight leg braces and shoe inserts, called ankle-foot orthotics. Exercise therapy to strengthen the muscles and maintain joint motion also helps to improve gait. Devices that electrically stimulate the peroneal nerve during footfall are appropriate for a small number of individuals with foot drop. In cases with permanent loss of movement, surgery that fuses the foot and ankle joint or that transfers tendons from stronger leg muscles is occasionally performed.",Foot Drop,0000132,NINDS,http://www.ninds.nih.gov/disorders/foot_drop/foot_drop.htm,C0085684,T047,Disorders What is the outlook for Foot Drop ?,0000132-3,outlook,"The prognosis for foot drop depends on the cause. Foot drop caused by trauma or nerve damage usually shows partial or even complete recovery. For progressive neurological disorders, foot drop will be a symptom that is likely to continue as a lifelong disability, but it will not shorten life expectancy.",Foot Drop,0000132,NINDS,http://www.ninds.nih.gov/disorders/foot_drop/foot_drop.htm,C0085684,T047,Disorders what research (or clinical trials) is being done for Foot Drop ?,0000132-4,research,"The National Institute of Neurological Disorders and Stroke (NINDS) conducts research related to the neurological conditions that cause foot drop in its laboratories at the National Institutes of Health (NIH), and also supports additional research through grants to major medical institutions across the country. Much of this research focuses on finding better ways to prevent, treat, and ultimately cure the kinds of neurological disorders that cause foot drop.",Foot Drop,0000132,NINDS,http://www.ninds.nih.gov/disorders/foot_drop/foot_drop.htm,C0085684,T047,Disorders What is (are) Friedreich's Ataxia ?,0000133-1,information,"Friedreich's ataxia is a rare inherited disease that causes progressive damage to the nervous system and movement problems. Neurological symptoms include awkward, unsteady movements, impaired sensory function, speech problems, and vision and hearing loss. Thinking and reasoning abilities are not affected.Impaired muscle coordination (ataxia) results from the degeneration of nerve tissue in the spinal cord and of nerves that control muscle movement in the arms and legs. Symptoms usually begin between the ages of 5 and 15 but can appear in adulthood or later. The first symptom is usually difficulty in walking. The ataxia gradually worsens and slowly spreads to the arms and then the trunk. People lave loss of sensation in the arms and legs, which may spread to other parts of the body. Many people with Friedreich's ataxia develop scoliosis (a curving of the spine to one side), which, if severe, may impair breathing. Other symptoms include chest pain, shortness of breath, and heart problems. Some individuals may develop diabetes. Doctors diagnose Friedreich's ataxia by performing a careful clinical examination, which includes a medical history and a thorough physical examination. Several tests may be performed, including electromyogram (EMG, which measures the electrical activity of cells) and genetic testing.",Friedreich's Ataxia,0000133,NINDS,http://www.ninds.nih.gov/disorders/friedreichs_ataxia/friedreichs_ataxia.htm,C0016719,T047,Disorders What are the treatments for Friedreich's Ataxia ?,0000133-2,treatment,"There is currently no effective cure or treatment for Friedreich's ataxia. However, many of the symptoms and accompanying complications can be treated to help individuals maintain optimal functioning as long as possible. Diabetes and heart problems can be treated with medications. Orthopedic problems such as foot deformities and scoliosis can be treated with braces or surgery. Physical therapy may prolong use of the arms and legs.",Friedreich's Ataxia,0000133,NINDS,http://www.ninds.nih.gov/disorders/friedreichs_ataxia/friedreichs_ataxia.htm,C0016719,T047,Disorders What is the outlook for Friedreich's Ataxia ?,0000133-3,outlook,"Generally, within 15 to 20 years after the appearance of the first symptoms, the person is confined to a wheelchair, and in later stages of the disease, individuals may become completely incapacitated. Friedreich's ataxia can shorten life expectancy; heart disease is the most common cause of death. Many individuals with Friedreich's ataxia die in early adulthood, but some people with less severe symptoms live into their 60s, 70s, or longer.",Friedreich's Ataxia,0000133,NINDS,http://www.ninds.nih.gov/disorders/friedreichs_ataxia/friedreichs_ataxia.htm,C0016719,T047,Disorders what research (or clinical trials) is being done for Friedreich's Ataxia ?,0000133-4,research,"Friedreich's ataxia is caused by a mutation in the protein frataxin, which is involved in the function of mitochondriathe energy producing power plants of the cell. Frataxin controls important steps in mitochondrial iron metabolism and overall cell iron stability.NINDS-funded researchers are studying the metabolic functions of mitochondria in individuals with Friedreichs ataxia. Ongoing research is aimed at understanding the molecular basis for and mechanisms involved in the inactivation of the gene that provides instructions for frataxin, which could lead to potential ways to reverse the silencing and restore normal gene function.And researchers are using next-generation sequencing (which can quickly identify the structure of millions of small fragments of DNA at the same time) to identify novel genes in Friedreich's ataxia.",Friedreich's Ataxia,0000133,NINDS,http://www.ninds.nih.gov/disorders/friedreichs_ataxia/friedreichs_ataxia.htm,C0016719,T047,Disorders What is (are) Gaucher Disease ?,0000134-1,information,"Gaucher disease is one of the inherited metabolic disorders known as lipid storage diseases. Lipids are fatty materials that include oils, fatty acids, waxes, and steroids (such as cholesterol and estrogen). Gaucher disease is caused by a deficiency of the enzyme glucocerebrosidase. Fatty materials can accumulate in the brain, spleen, liver, lungs, bone marrow, and kidneys. Symptoms may begin in early life or adulthood and include skeletal disorders and bone lesions that may cause pain and fractures, enlarged spleen and liver, liver malfunction, anemia, and yellow spots in the eyes. There are three common clinical subtypes of Gaucher disease. The first category, called type 1 (or nonneuropathic), typically does not affect the brain. Symptoms may begin early in life or in adulthood. People in this group usually bruise easily due to low blood platelets and experience fatigue due to anemia They also may have an enlarged liver and spleen. Many individuals with a mild form of the disorder may not show any symptoms. In type 2 Gaucher disease (acute infantile neuropathic Gaucher disease), symptoms usually begin by 3 months of age and include extensive brain damage, seizures, spasticity, poor ability to suck and swallow, and enlarged liver and spleen. Affecetd children usually die before 2 years of age. In the third category, called type 3 (or chronic neuropathic Gaucher disease), signs of brain involvement such as seizures gradually become apparent. Major symptoms also include skeletal irregularities, eye movement disorders, cognitive deficit, poor coordination, enlarged liver and spleen, respiratory problems, and blood disorders.",Gaucher Disease,0000134,NINDS,http://www.ninds.nih.gov/disorders/gauchers/gauchers.htm,C0017205,T047,Disorders What are the treatments for Gaucher Disease ?,0000134-2,treatment,"Enzyme replacement therapy is available for most people with types 1 and 3 Gaucher disease. Given intravenously every two weeks, this therapy decreases liver and spleen size, reduces skeletal abnormalities, and reverses other symptoms of the disorder. The U.S. Food and Drug Administration has approved eligustat tartrate for Gaucher treatment, which works by administering small molecules that reduce the action of the enzyme that catalyzes glucose to ceramide. Surgery to remove the whole or part of the spleen may be required on rare occasions, and blood transfusions may benefit some anemic individuals. Other individuals may require joint replacement surgery to improve mobility and quality of life. There is no effective treatment for severe brain damage that may occur in persons with types 2 and 3 Gaucher disease.",Gaucher Disease,0000134,NINDS,http://www.ninds.nih.gov/disorders/gauchers/gauchers.htm,C0017205,T047,Disorders What is the outlook for Gaucher Disease ?,0000134-3,outlook,"Enzyme replacement therapy is very beneficial for type 1 and most type 3 individuals with this condition. Successful bone marrow transplantation can reverse the non-neurological effects of the disease, but the procedure carries a high risk and is rarely performed in individuals with Gaucher disease.",Gaucher Disease,0000134,NINDS,http://www.ninds.nih.gov/disorders/gauchers/gauchers.htm,C0017205,T047,Disorders what research (or clinical trials) is being done for Gaucher Disease ?,0000134-4,research,"The mission of the National Institute of Neurological Disorders and Stroke (NINDS), a part of the National Institutes of Health), is to seek fundamental knowledge about the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. The NINDS supports research to find ways to treat and prevent lipid storage disorders such as Gaucher disease. For example, researchers hope to identify biomarkers (signs that may indicate risk of a disease and improve diagnosis) for Gaucher disease and other lipid storage diseases; and identify genetic, biochemical, and clinical factors that are associated with disease severity in individuals with Gaucher disease.Additional research is looking at the increased buildup of the protein alpha-synuclein, which is seen in Gaucher disease, Parkinson's disease, and Lewy Body Dementia. Using different models of glucoserebrosidase deficiency, scientists hope to learn how this deficiency impairs the breakdown of lysosomal proteins, including the breakdown of alpha-synuclein.",Gaucher Disease,0000134,NINDS,http://www.ninds.nih.gov/disorders/gauchers/gauchers.htm,C0017205,T047,Disorders What is (are) Generalized Gangliosidoses ?,0000135-1,information,"The gangliosidoses are a group of inherited metabolic diseases caused by a deficiency of the different proteins needed to break down fatty substances called lipids. Excess buildup of these fatty materials (oils, waxes, steroids, and other compounds) can cause permanent damage in the cells and tissues in the brain and nervous systems, particularly in nerve cells. There are two distinct groups of the gangliosidoses, which affect males and females equally. The GM1 gangliosidoses are caused by a deficiency of the enzyme beta-galactosidase. Signs of early infantile GM1 gangliodisosis (the most severe subtype, with onset shortly after birth) may include neurodegeneration, seizures, liver and spleen enlargement, coarsening of facial features, skeletal irregularities, joint stiffness, distended abdomen, muscle weakness, exaggerated startle response, and problems with gait. About half of affected persons develop cherry-red spots in the eye. Children may be deaf and blind by age 1.Onset of late infantile GM1 gangliosidosisis typically between ages 1 and 3 years. Signs include an inability to control movement, seizures, dementia, and difficulties with speech. Adult GM1 gangliosidosis strikes between ages 3 and 30, with symptoms that include the wasting away of muscles, cloudiness in the corneas, and dystonia (sustained moscle contractions that case twisting and repetitive movements or abnormal postures). Non-cancerous skin blemishes may develop on the lower part of the trunk of the body. Adult GM1 is usually less severe and progresses more slowly than other forms of the disorder. The GM2 gangliosidoses include Tay-Sachs disease and its more severe form, called Sandhoff disease, both of whichresult from a deficiency of the enzyme beta-hexosaminidase. Symptoms begin by age 6 months and include progressive mental deterioration, cherry-red spots in the retina, marked startle reflex, and seizures. Children with Tay-Sachs may also have dementia, progressive loss of hearing, some paralysis, and difficulty in swallowing that may require a feeding tube. A rarer form of the disorder, which occurs in individuals in their twenties and early thirties, is characterized by an unsteady gait and progressive neurological deterioration. Additional signs of Sandhoff disease include weakness in nerve signaling that causes muscles to contract, early blindness, spasticity, muscle contractions, an abnormally enlarged head, and an enlarged liver and spleen.",Generalized Gangliosidoses,0000135,NINDS,http://www.ninds.nih.gov/disorders/gangliosidoses/Gangliosidoses.htm,C0017083,T047,Disorders What are the treatments for Generalized Gangliosidoses ?,0000135-2,treatment,No specific treatment exists for the gangliosidoses. Anticonvulsants may initially control seizures. Other supportive treatment includes proper nutrition and hydration and keeping the airway open.,Generalized Gangliosidoses,0000135,NINDS,http://www.ninds.nih.gov/disorders/gangliosidoses/Gangliosidoses.htm,C0017083,T047,Disorders What is the outlook for Generalized Gangliosidoses ?,0000135-3,outlook,Children with early infantile GM1 often die by age 3 from cardiac complications or pneumonia. Children with the early-onset form of Tay-Sachs disease may eventually need a feeding tube and often die by age 4 from recurring infection. Children with Sandhoff disease generally die by age 3 from respiratory infections.,Generalized Gangliosidoses,0000135,NINDS,http://www.ninds.nih.gov/disorders/gangliosidoses/Gangliosidoses.htm,C0017083,T047,Disorders what research (or clinical trials) is being done for Generalized Gangliosidoses ?,0000135-4,research,"The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. The NINDS is a part of the National Institutes of Health (NIH), the largest supporter of biomedical research in the world. Scientists are studying the mechanisms by which the lipids accumulating in these disorders cause harm to the body. NINDS-funded research on the gangliosidoses also includes using variations of magnetic resonance imaging to develop a biomarker (a sign that may indicate risk of a disease and improve diagnosis) to effectively evaluate brain chemistry and disease progression, and expanding the use of virus-delivered gene therapy seen in an animal model of Tay-Sachs and Sandhoff diseases for use in humans.",Generalized Gangliosidoses,0000135,NINDS,http://www.ninds.nih.gov/disorders/gangliosidoses/Gangliosidoses.htm,C0017083,T047,Disorders What is (are) Gerstmann's Syndrome ?,0000136-1,information,"Gerstmann's syndrome is a cognitive impairment that results from damage to a specific area of the brain -- the left parietal lobe in the region of the angular gyrus. It may occur after a stroke or in association with damage to the parietal lobe. It is characterized by four primary symptoms: a writing disability (agraphia or dysgraphia), a lack of understanding of the rules for calculation or arithmetic (acalculia or dyscalculia), an inability to distinguish right from left, and an inability to identify fingers (finger agnosia). The disorder should not be confused with Gerstmann-Strussler-Scheinker disease, a type of transmissible spongiform encephalopathy. In addition to exhibiting the above symptoms, many adults also experience aphasia, (difficulty in expressing oneself when speaking, in understanding speech, or in reading and writing). There are few reports of the syndrome, sometimes called developmental Gerstmann's syndrome, in children. The cause is not known. Most cases are identified when children reach school age, a time when they are challenged with writing and math exercises. Generally, children with the disorder exhibit poor handwriting and spelling skills, and difficulty with math functions, including adding, subtracting, multiplying, and dividing. An inability to differentiate right from left and to discriminate among individual fingers may also be apparent. In addition to the four primary symptoms, many children also suffer from constructional apraxia, an inability to copy simple drawings. Frequently, there is also an impairment in reading. Children with a high level of intellectual functioning as well as those with brain damage may be affected with the disorder.",Gerstmann's Syndrome,0000136,NINDS,http://www.ninds.nih.gov/disorders/gerstmanns/gerstmanns.htm,C0017494,T048,Disorders What are the treatments for Gerstmann's Syndrome ?,0000136-2,treatment,"There is no cure for Gerstmann's syndrome. Treatment is symptomatic and supportive. Occupational and speech therapies may help diminish the dysgraphia and apraxia. In addition, calculators and word processors may help school children cope with the symptoms of the disorder.",Gerstmann's Syndrome,0000136,NINDS,http://www.ninds.nih.gov/disorders/gerstmanns/gerstmanns.htm,C0017494,T048,Disorders What is the outlook for Gerstmann's Syndrome ?,0000136-3,outlook,"In adults, many of the symptoms diminish over time. Although it has been suggested that in children symptoms may diminish over time, it appears likely that most children probably do not overcome their deficits, but learn to adjust to them.",Gerstmann's Syndrome,0000136,NINDS,http://www.ninds.nih.gov/disorders/gerstmanns/gerstmanns.htm,C0017494,T048,Disorders what research (or clinical trials) is being done for Gerstmann's Syndrome ?,0000136-4,research,The NINDS supports research on disorders that result from damage to the brain such as dysgraphia. The NINDS and other components of the National Institutes of Health also support research on learning disabilities. Current research avenues focus on developing techniques to diagnose and treat learning disabilities and increase understanding of the biological basis of them.,Gerstmann's Syndrome,0000136,NINDS,http://www.ninds.nih.gov/disorders/gerstmanns/gerstmanns.htm,C0017494,T048,Disorders What is (are) Gerstmann-Straussler-Scheinker Disease ?,0000137-1,information,"Gerstmann-Straussler-Scheinker disease (GSS) is an extremely rare, neurodegenerative brain disorder. It is almost always inherited and is found in only a few families around the world. Onset of the disease usually occurs between the ages of 35 and 55. In the early stages, patients may experience varying levels of ataxia (lack of muscle coordination), including clumsiness, unsteadiness, and difficulty walking. As the disease progresses, the ataxia becomes more pronounced and most patients develop dementia. Other symptoms may include dysarthria (slurring of speech), nystagmus (involuntary movements of the eyes), spasticity (rigid muscle tone), and visual disturbances, sometimes leading to blindness. Deafness also can occur. In some families, parkinsonian features are present. GSS belongs to a family of human and animal diseases known as the transmissible spongiform encephalopathies (TSEs). Other TSEs include Creutzfeldt-Jakob disease, kuru, and fatal familial insomnia.",Gerstmann-Straussler-Scheinker Disease,0000137,NINDS,http://www.ninds.nih.gov/disorders/gss/gss.htm,C0017495,T047,Disorders What are the treatments for Gerstmann-Straussler-Scheinker Disease ?,0000137-2,treatment,"There is no cure for GSS, nor are there any known treatments to slow progression of the disease. Current therapies are aimed at alleviating symptoms and making the patient as comfortable as possible.",Gerstmann-Straussler-Scheinker Disease,0000137,NINDS,http://www.ninds.nih.gov/disorders/gss/gss.htm,C0017495,T047,Disorders What is the outlook for Gerstmann-Straussler-Scheinker Disease ?,0000137-3,outlook,"GSS is a slowly progressive condition usually lasting from 2 to 10 years. The disease ultimately causes severe disability and finally death, often after the patient goes into a coma or has a secondary infection such as aspiration pneumonia due to an impaired ability to swallow.",Gerstmann-Straussler-Scheinker Disease,0000137,NINDS,http://www.ninds.nih.gov/disorders/gss/gss.htm,C0017495,T047,Disorders what research (or clinical trials) is being done for Gerstmann-Straussler-Scheinker Disease ?,0000137-4,research,"The NINDS supports and conducts research on TSEs, including GSS. Much of this research is aimed at characterizing the agents that cause these disorders, clarifying the mechanisms underlying them, and, ultimately, finding ways to prevent, treat, and cure them.",Gerstmann-Straussler-Scheinker Disease,0000137,NINDS,http://www.ninds.nih.gov/disorders/gss/gss.htm,C0017495,T047,Disorders What is (are) Giant Axonal Neuropathy ?,0000138-1,information,"Giant axonal neuropathy (GAN) is a rare inherited genetic disorder that affects both the central and peripheral nervous systems. The majority of children with GAN will begin to show symptoms of the disease sometime before five years of age. Signs of GAN usually begin in the peripheral nervous system, which controls movement and sensation in the arms, legs, and other parts of the body. The typical symptoms of GAN are clumsiness and muscle weakness that progresses from a waddling gait to a pronounced difficulty in walking. Additional symptoms include numbness or lack of feeling in the arms and legs, seizures, nystagmus (rapid back and forth movement of the eyes), and impaired cognitive development. A characteristic sign of the disease is dull, tightly curled hair that is markedly different from the parents in color and texture. Researchers have discovered more than 20 different mutations associated with GAN in a gene, GAN1, which makes a protein called gigaxonin. These mutations disrupt the regulation or production of gigaxonin in the nervous system. As a result, axons, which are the long tails of neurons that allow them to communicate with other nerve cells, swell up with tangled filaments and become abnormally large. Eventually these axons deteriorate and cause problems with movement and sensation since neurons are no longer able to communicate with each other. Doctors diagnose GAN by using several tests, including one that measures nerve conduction velocity, a brain MRI, and a peripheral nerve biopsy (in which a bit of tissue from a peripheral nerve is removed and examined to look for swollen axons). A definitive diagnosis using genetic testing is available on a research basis only. GAN is inherited in an autosomal recessive pattern, which means that both parents of a child with GAN have to carry a copy of the mutated gene. Parents, typically, will show no signs of the disease.",Giant Axonal Neuropathy,0000138,NINDS,http://www.ninds.nih.gov/disorders/gan/GiantAxonalNeuropathy.htm,C1850386,T047,Disorders What are the treatments for Giant Axonal Neuropathy ?,0000138-2,treatment,"Treatment is symptomatic. Children with GAN and their families usually work with a medical team that includes a pediatric neurologist, orthopedic surgeon, physiotherapist, psychologist, and speech and occupational therapists. The major goals of treatment are to maximize intellectual and physical development and minimize their deterioration as time passes. Many children with GAN begin with normal intellectual development and are able to attend a regular school program. Children should be monitored at least once a year to assess their intellectual abilities and to look for the presence of neurological deterioration.",Giant Axonal Neuropathy,0000138,NINDS,http://www.ninds.nih.gov/disorders/gan/GiantAxonalNeuropathy.htm,C1850386,T047,Disorders What is the outlook for Giant Axonal Neuropathy ?,0000138-3,outlook,"GAN generally progresses slowly as neurons degenerate and die. Most children have problems with walking in the early stages of the disorder. Later they may lose sensation, coordination, strength, and reflexes in their arms and legs. As time goes on, the brain and spinal cord may become involved, causing a gradual decline in mental function, loss of control of body movement, and seizures. Most children become wheelchair dependent in the second decade of life. Some children may survive into early adulthood.",Giant Axonal Neuropathy,0000138,NINDS,http://www.ninds.nih.gov/disorders/gan/GiantAxonalNeuropathy.htm,C1850386,T047,Disorders what research (or clinical trials) is being done for Giant Axonal Neuropathy ?,0000138-4,research,"The National Institute of Neurological Disorders and Stroke (NINDS) supports research related to GAN through grants to major medical institutions across the country. Much of this research focuses on finding better ways to prevent, treat, and ultimately cure inherited neurological disorders such as GAN.",Giant Axonal Neuropathy,0000138,NINDS,http://www.ninds.nih.gov/disorders/gan/GiantAxonalNeuropathy.htm,C1850386,T047,Disorders What is (are) Krabbe Disease ?,0000139-1,information,"Krabbe disease is a rare, inherited metabolic disorder in which harmful amounts of lipids (fatty materials such as oils and waxes) build up in various cells and tissues in the body and destroys brain cells. Krabbe disease, also known as globoid cell leukodystrophy, ischaracterized by the presence of globoid cells (cells that have more than one nucleus) that break down the nerves protective myelin coating. Krabbe disease is caused by a deficiency of galactocerebrosidase, an essential enzyme for myelin metabolism. The disease most often affects infants, with onset before age 6 months, but can occur in adolescence or adulthood. Symptoms include severe deterioration of mental and motor skills, muscle weakness, hypertonia (inability of a muscle to stretch), myoclonic seizures (sudden, shock-like contractions of the limbs), and spasticity (involuntary and awkward movement). Other symptoms may include irritability, unexplained fever, blindness, difficulty with swallowing, and deafness.",Krabbe Disease,0000139,NINDS,http://www.ninds.nih.gov/disorders/krabbe/krabbe.htm,C0023521,T047,Disorders What are the treatments for Krabbe Disease ?,0000139-2,treatment,"There is no cure for Krabbe disease. Results of a very small clinical trial of children with infantile Krabbe disease found that children who received umbilical cord blood stem cells from unrelated donors prior to symptom onset developed with little neurological impairment. Bone marrow transplantation may help some people. Generally, treatment for the disorder is symptomatic and supportive. Physical therapy may help maintain or increase muscle tone and circulation.",Krabbe Disease,0000139,NINDS,http://www.ninds.nih.gov/disorders/krabbe/krabbe.htm,C0023521,T047,Disorders What is the outlook for Krabbe Disease ?,0000139-3,outlook,Krabbe disease in infants is generally fatal before age 2. Individuals with a later onset form of the disease generally have a milder course of the disease and live significantly longer.,Krabbe Disease,0000139,NINDS,http://www.ninds.nih.gov/disorders/krabbe/krabbe.htm,C0023521,T047,Disorders what research (or clinical trials) is being done for Krabbe Disease ?,0000139-4,research,"The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. The NINDS is a component of the National Institutes of Health, the largest supporter of biomedical research in the world. Hamatopoietic stem cell transplantation -- using stem cells from umbilical cord blood or bone marrow -- has been shown to benefit some individuals when given early in the course of the disease. Scientists plan to test hematopoietic stem cell transplantation plus gene therapy to see if it dramatically increases life expectancy in a mouse model of the disease. Also in a mouse mode, NINDS-funded scientists are testing a combined treatment approach that uses a harmless virus to increase protein production, along with blood stem cell transplantation and small-molecule-based drugs, to reduce neuroinflammation, cell death, and nerve cell degeneration seen in Krabbe disease.",Krabbe Disease,0000139,NINDS,http://www.ninds.nih.gov/disorders/krabbe/krabbe.htm,C0023521,T047,Disorders What is (are) Glossopharyngeal Neuralgia ?,0000140-1,information,"Glossopharyngeal neuralgia (GN) is a rare pain syndrome that affects the glossopharyngeal nerve (the ninth cranial nerve that lies deep within the neck) and causes sharp, stabbing pulses of pain in the back of the throat and tongue, the tonsils, and the middle ear. The excruciating pain of GN can last for a few seconds to a few minutes, and may return multiple times in a day or once every few weeks. Many individuals with GN relate the attacks of pain to specific trigger factors such as swallowing, drinking cold liquids, sneezing, coughing, talking, clearing the throat, and touching the gums or inside the mouth. GN can be caused by compression of the glossopharyngeal nerve, but in some cases, no cause is evident. Like trigeminal neuralgia, it is associated with multiple sclerosis. GN primarily affects the elderly.",Glossopharyngeal Neuralgia,0000140,NINDS,http://www.ninds.nih.gov/disorders/glossopharyngeal_neuralgia/glossopharyngeal_neuralgia.htm,C0154731,T047,Disorders What are the treatments for Glossopharyngeal Neuralgia ?,0000140-2,treatment,"Most doctors will attempt to treat the pain first with drugs. Some individuals respond well to anticonvulsant drugs, such as carbamazepine and gabapentin. Surgical options, including nerve resection, tractotomy, or microvascular decompression, should be considered when individuals either dont respond to, or stop responding to, drug therapy. Surgery is usually successful at ending the cycles of pain, although there may be some sensory loss in the mouth, throat, or tongue.",Glossopharyngeal Neuralgia,0000140,NINDS,http://www.ninds.nih.gov/disorders/glossopharyngeal_neuralgia/glossopharyngeal_neuralgia.htm,C0154731,T047,Disorders What is the outlook for Glossopharyngeal Neuralgia ?,0000140-3,outlook,"Some individuals recover from an initial attack and never have another. Others will experience clusters of attacks followed by periods of short or long remission. Individuals may lose weight if they fear that chewing, drinking, or eating will cause an attack.",Glossopharyngeal Neuralgia,0000140,NINDS,http://www.ninds.nih.gov/disorders/glossopharyngeal_neuralgia/glossopharyngeal_neuralgia.htm,C0154731,T047,Disorders what research (or clinical trials) is being done for Glossopharyngeal Neuralgia ?,0000140-4,research,"The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes at the National Institutes of Health conduct research related to GN and support additional research through grants to major research institutions across the country. Much of this research focuses on finding better ways to prevent, treat, and ultimately cure disorders such as GN.",Glossopharyngeal Neuralgia,0000140,NINDS,http://www.ninds.nih.gov/disorders/glossopharyngeal_neuralgia/glossopharyngeal_neuralgia.htm,C0154731,T047,Disorders What is (are) Guillain-Barr Syndrome ?,0000141-1,information,"Guillain-Barr syndrome is a disorder in which the body's immune system attacks part of the peripheral nervous system. The first symptoms of this disorder include varying degrees of weakness or tingling sensations in the legs. In many instances, the weakness and abnormal sensations spread to the arms and upper body. These symptoms can increase in intensity until the muscles cannot be used at all and the person is almost totally paralyzed. In these cases, the disorder is life-threatening and is considered a medical emergency. The individual is often put on a ventilator to assist with breathing. Most individuals, however, have good recovery from even the most severe cases of Guillain-Barr syndrome (GBS), although some continue to have some degree of weakness. Guillain-Barr syndrome is rare. Usually Guillain-Barr occurs a few days or weeks after the person has had symptoms of a respiratory or gastrointestinal viral infection. Occasionally, surgery will trigger the syndrome. In rare instances, vaccinations may increase the risk of GBS. The disorder can develop over the course of hours or days, or it may take up to 3 to 4 weeks. No one yet knows why Guillain-Barr strikes some people and not others or what sets the disease in motion. What scientists do know is that the body's immune system begins to attack the body itself, causing what is known as an autoimmune disease. Guillain-Barr is called a syndrome rather than a disease because it is not clear that a specific disease-causing agent is involved. Reflexes such as knee jerks are usually lost. Because the signals traveling along the nerve are slower, a nerve conduction velocity (NCV) test can give a doctor clues to aid the diagnosis. The cerebrospinal fluid that bathes the spinal cord and brain contains more protein than usual, so a physician may decide to perform a spinal tap.",Guillain-Barr Syndrome,0000141,NINDS,http://www.ninds.nih.gov/disorders/gbs/gbs.htm,C0039082,T047,Disorders What are the treatments for Guillain-Barr Syndrome ?,0000141-2,treatment,"There is no known cure for Guillain-Barr syndrome, but therapies can lessen the severity of the illness and accelerate the recovery in most patients. There are also a number of ways to treat the complications of the disease. Currently, plasmapheresis (also known as plasma exchange) and high-dose immunoglobulin therapy are used. Plasmapheresis seems to reduce the severity and duration of the Guillain-Barr episode. In high-dose immunoglobulin therapy, doctors give intravenous injections of the proteins that in small quantities, the immune system uses naturally to attack invading organism. Investigators have found that giving high doses of these immunoglobulins, derived from a pool of thousands of normal donors, to Guillain-Barr patients can lessen the immune attack on the nervous system. The most critical part of the treatment for this syndrome consists of keeping the patient's body functioning during recovery of the nervous system. This can sometimes require placing the patient on a ventilator, a heart monitor, or other machines that assist body function.",Guillain-Barr Syndrome,0000141,NINDS,http://www.ninds.nih.gov/disorders/gbs/gbs.htm,C0039082,T047,Disorders What is the outlook for Guillain-Barr Syndrome ?,0000141-3,outlook,"Guillain-Barr syndrome can be a devastating disorder because of its sudden and unexpected onset. Most people reach the stage of greatest weakness within the first 2 weeks after symptoms appear, and by the third week of the illness 90 percent of all patients are at their weakest. The recovery period may be as little as a few weeks or as long as a few years. About 30 percent of those with Guillain-Barr still have a residual weakness after 3 years. About 3 percent may suffer a relapse of muscle weakness and tingling sensations many years after the initial attack.",Guillain-Barr Syndrome,0000141,NINDS,http://www.ninds.nih.gov/disorders/gbs/gbs.htm,C0039082,T047,Disorders what research (or clinical trials) is being done for Guillain-Barr Syndrome ?,0000141-4,research,"Scientists are concentrating on finding new treatments and refining existing ones. Scientists are also looking at the workings of the immune system to find which cells are responsible for beginning and carrying out the attack on the nervous system. The fact that so many cases of Guillain-Barr begin after a viral or bacterial infection suggests that certain characteristics of some viruses and bacteria may activate the immune system inappropriately. Investigators are searching for those characteristics. Neurological scientists, immunologists, virologists, and pharmacologists are all working collaboratively to learn how to prevent this disorder and to make better therapies available when it strikes.",Guillain-Barr Syndrome,0000141,NINDS,http://www.ninds.nih.gov/disorders/gbs/gbs.htm,C0039082,T047,Disorders What is (are) Neurodegeneration with Brain Iron Accumulation ?,0000142-1,information,"Neurodegeneration with brain iron accumulation (NBIA) is a rare, inherited, neurological movement disorder characterized by an abnormal accumulation of iron in the brain and progressive degeneration of the nervous system. Symptoms, which vary greatly among patients and usually develop during childhood, may include dystonia (slow writhing, distorting muscle contractions of the limbs, face, or trunk), dysarthria (slurred or slow speech) choreoathetosis (involuntary, purposeless jerky muscle movements), muscle rigidity (uncontrolled tightness of the muscles), spasticity (sudden, involuntary muscle spasms), and/or ataxia (inability to coordinate movements), confusion, disorientation, seizures, stupor, and dementia. Visual changes are also common, most often due to atrophy of the optic nerve (optic atrophy) or degeneration of the retinal layer in the back of the eye (retinal degeneration Cognitive decline occurs in some forms of NBIA; the majority of individuals with NBIA do not have cognitive impairment. Several genes have been found that cause NBIA.",Neurodegeneration with Brain Iron Accumulation,0000142,NINDS,http://www.ninds.nih.gov/disorders/nbia/nbia.htm,C0027746,T049,Disorders What are the treatments for Neurodegeneration with Brain Iron Accumulation ?,0000142-2,treatment,"There is no cure for NBIA, nor is there a standard course of treatment. Treatment is symptomatic and supportive, and may include physical or occupational therapy, exercise physiology, and/or speech pathology. Many medications are available to treat the primary symptoms of dystonia and spasticity, including oral medications, intrathecal baclofen pump (in which a small pump is implanted under the skin and is programmed to deliver a specific amount of medication on a regular basis), deep brain stimulation, and botulinum toxin injection.",Neurodegeneration with Brain Iron Accumulation,0000142,NINDS,http://www.ninds.nih.gov/disorders/nbia/nbia.htm,C0027746,T049,Disorders What is the outlook for Neurodegeneration with Brain Iron Accumulation ?,0000142-3,outlook,"NBIA is a progressive condition. Most individuals experience periods of rapid decline lasting weeks to months, with relatively stable periods in between. The rate of progression correlates with the age at onset, meaning that children with early symptoms tend to fare more poorly. For those with early onset, dystonia and spasticity can eventually limit the ability to walk, usually leading to use of a wheelchair by the midteens. Life expectancy is variable, although premature death does occur in NBIA. Premature death usually occurs due to secondary complications such as impaired swallowing or confinement to a bed or wheelchair, which can lead to poor nutrition or aspiration pneumonia. With improved medical care, however, a greater number of affected individuals reach adulthood. For those with atypical, late-onset NBIA, many are diagnosed as adults and live well into adulthood.",Neurodegeneration with Brain Iron Accumulation,0000142,NINDS,http://www.ninds.nih.gov/disorders/nbia/nbia.htm,C0027746,T049,Disorders what research (or clinical trials) is being done for Neurodegeneration with Brain Iron Accumulation ?,0000142-4,research,"The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system, and to use that knowledge to reduce the burden of neurological disease. NINDS-funded researchers are developing a mouse model of an NBIA disorder to gain insight into the causes of the disease and accelerate ongoing efforts to identify therapeutics to treat it..",Neurodegeneration with Brain Iron Accumulation,0000142,NINDS,http://www.ninds.nih.gov/disorders/nbia/nbia.htm,C0027746,T049,Disorders What is (are) Headache ?,0000143-1,information,"There are four types of headache: vascular, muscle contraction (tension), traction, and inflammatory. Vascular headaches include ""cluster headaches, which cause repeated episodes of intense pain, and headaches resulting from high blood pressure,and toxic headache produced by fever. Muscle contraction headaches appear to involve the tightening or tensing of facial and neck muscles. Traction and inflammatory headaches are symptoms of other disorders, ranging from stroke to sinus infection. Like other types of pain, headaches can serve as warning signals of more serious disorders. This is particularly true for headaches caused by inflammation, including those related to meningitis as well as those resulting from diseases of the sinuses, spine, neck, ears, and teeth. The most common type of primary headache (not caused by another medical condition) is migraine. Migraine headaches are usually characterized by severe pain on one or both sides of the head, an upset stomach, and, at times, disturbed vision. Women are more likely than men to have migraine headaches.",Headache,0000143,NINDS,http://www.ninds.nih.gov/disorders/headache/headache.htm,C2096315,T033,Disorders What are the treatments for Headache ?,0000143-2,treatment,"When headaches occur three or more times a month, preventive treatment is usually recommended. Drug therapy, biofeedback training, stress reduction, and elimination of certain foods from the diet are the most common methods of preventing and controlling migraine and other vascular headaches. Regular exercise, such as swimming or vigorous walking, can also reduce the frequency and severity of migraine headaches. Drug therapy for migraine is often combined with biofeedback and relaxation training. One of the most commonly used drugs for the relief of migraine symptoms is sumatriptan. Drugs used to prevent migraine also include methysergide maleate, which counteracts blood vessel constriction; propranolol hydrochloride, which also reduces the frequency and severity of migraine headaches; ergotamine tartrate, a vasoconstrictor that helps counteract the painful dilation stage of the headache; amitriptyline, an antidepressant; valproic acid, an anticonvulsant; and verapamil, a calcium channel blocker.",Headache,0000143,NINDS,http://www.ninds.nih.gov/disorders/headache/headache.htm,C2096315,T033,Disorders What is the outlook for Headache ?,0000143-3,outlook,"Not all headaches require medical attention. But some types of headache are signals of more serious disorders and call for prompt medical care. These include: sudden, severe headache or sudden headache associated with a stiff neck; headaches associated with fever, convulsions, or accompanied by confusion or loss of consciousness; headaches following a blow to the head, or associated with pain in the eye or ear; persistent headache in a person who was previously headache free; and recurring headache in children. Migraine headaches may last a day or more and can strike as often as several times a week or as rarely as once every few years.",Headache,0000143,NINDS,http://www.ninds.nih.gov/disorders/headache/headache.htm,C2096315,T033,Disorders what research (or clinical trials) is being done for Headache ?,0000143-4,research,"The National Institute of Neurological Disorders and Stroke (NINDS) conducts research relating to headaches at its laboratories at the National Institutes of Health (NIH), and supports additional research through grants to major medical institutions across the country. NINDS also supports and conducts studies to improve the diagnosis of headaches and to find ways to prevent them.",Headache,0000143,NINDS,http://www.ninds.nih.gov/disorders/headache/headache.htm,C2096315,T033,Disorders What is (are) Hemicrania Continua ?,0000144-1,information,"Hemicrania continua is a chronic and persistent form of headache marked by continuous pain that varies in severity, always occurs on the same side of the face and head, and is superimposed with additional debilitating symptoms. on the continuous but fluctuating pain are occasional attacks of more severe pain. A small percentage of individuals with hemicrania continua have bilateral pain, or pain on both sides of the head. A headache is considered hemicrania continua if the person has had a one-sided daily or continuous headache of moderate intensity with occasional short, piercing head pain for more than 3 months without shifting sides or pain-free periods. The headache must also be completely responsive to treatment with the non-steroidal anti-inflammatory drug drug indomethacin. It must have at least one of the following symptoms: eye redness and/or tearing, nasal congestion and/or runny nose, ptosis (drooping eyelid) and miosis (contracture of the iris). Occasionally, individuals will also have forehead sweating and migraine symptoms, such as throbbing pain, nausea and/or vomiting, or sensitivity to light and sound. The disorder has two forms: chronic, with daily headaches, and remitting, in which headaches may occur for a period as long as 6 months and are followed by a pain-free period of weeks to months until the pain returns. Most patients experience attacks of increased pain three to five times per 24-hour cycle. This disorder is more common in women than in men. Physical exertion and alcohol use may increase the severity of headache pain in some patients. The cause of this disorder is unknown.",Hemicrania Continua,0000144,NINDS,http://www.ninds.nih.gov/disorders/hemicrania_continua/hemicrania_continua.htm,C2349425,T047,Disorders What are the treatments for Hemicrania Continua ?,0000144-2,treatment,"Indomethacin provides rapid relief from symptoms. Patients must take between 25 and 300 milligrams of indomethacin daily and indefinitely to decrease symptoms. Some individuals may need to take acid-suppression medicine due to a gastrointestinal side effect. For those who cannot tolerate the side effects, another NSAID, celecoxib, has been shown to have less complications and can be prescribed. Amitriptyline and other tricyclic antidepressants are also effective in some individuals with hemicrania continua as a preventative treatment.",Hemicrania Continua,0000144,NINDS,http://www.ninds.nih.gov/disorders/hemicrania_continua/hemicrania_continua.htm,C2349425,T047,Disorders What is the outlook for Hemicrania Continua ?,0000144-3,outlook,Individuals may obtain complete to near-complete relief of symptoms with proper medical attention and daily medication. Some people may not be able to tolerate long-term use of indomethacin and may have to rely on less effective NSAIDs.,Hemicrania Continua,0000144,NINDS,http://www.ninds.nih.gov/disorders/hemicrania_continua/hemicrania_continua.htm,C2349425,T047,Disorders what research (or clinical trials) is being done for Hemicrania Continua ?,0000144-4,research,"The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) support research related to hemicrania continua through grants to medical research institutions across the country. Much of this research focuses on understanding hemicrania continua in order to finding better ways to prevent, treat, and ultimately cure the disorder.",Hemicrania Continua,0000144,NINDS,http://www.ninds.nih.gov/disorders/hemicrania_continua/hemicrania_continua.htm,C2349425,T047,Disorders What is (are) Hemifacial Spasm ?,0000145-1,information,"Hemifacial spasm is a neuromuscular disorder characterized by frequent involuntary contractions (spasms) of the muscles on one side (hemi-) of the face (facial). The disorder occurs in both men and women, although it more frequently affects middle-aged or elderly women. It is much more common in the Asian population. The first symptom is usually an intermittent twitching of the eyelid muscle that can lead to forced closure of the eye. The spasm may then gradually spread to involve the muscles of the lower face, which may cause the mouth to be pulled to one side. Eventually the spasms involve all of the muscles on one side of the face almost continuously. The condition may be caused by a facial nerve injury, or a tumor, or it may have no apparent cause. Rarely, doctors see individuals with spasm on both sides of the face. Most often hemifacial spasm is caused by a blood vessel pressing on the facial nerve at the place where it exits the brainstem.",Hemifacial Spasm,0000145,NINDS,http://www.ninds.nih.gov/disorders/hemifacial_spasm/hemifacial_spasm.htm,C0278152,T033,Disorders What are the treatments for Hemifacial Spasm ?,0000145-2,treatment,"Surgical treatment in the form of microvascular decompression, which relieves pressure on the facial nerve, will relieve hemifacial spasm in many cases. This intervention has significant potential side-effects, so risks and benefits have to be carefully balanced. Other treatments include injections of botulinum toxin into the affected areas, which is the most effective therapy and the only one used in most cases. Drug therapy is generally not effective.",Hemifacial Spasm,0000145,NINDS,http://www.ninds.nih.gov/disorders/hemifacial_spasm/hemifacial_spasm.htm,C0278152,T033,Disorders What is the outlook for Hemifacial Spasm ?,0000145-3,outlook,"The prognosis for an individual with hemifacial spasm depends on the treatment and their response. Some individuals will become relatively free from symptoms with injection therapy. Some may require surgery. In most cases, a balance can be achieved, with tolerable residual symptoms.",Hemifacial Spasm,0000145,NINDS,http://www.ninds.nih.gov/disorders/hemifacial_spasm/hemifacial_spasm.htm,C0278152,T033,Disorders what research (or clinical trials) is being done for Hemifacial Spasm ?,0000145-4,research,"The National Institute of Neurological Disorders and Stroke (NINDS) conducts and supports research related to hemifacial spams through grants to major research institutions across the country. Much of this research focuses on better ways to prevent, treat, and ultimately cure neurological disorders, such as hemifacial spasm.",Hemifacial Spasm,0000145,NINDS,http://www.ninds.nih.gov/disorders/hemifacial_spasm/hemifacial_spasm.htm,C0278152,T033,Disorders What is (are) Hereditary Neuropathies ?,0000146-1,information,"Hereditary neuropathies are a group of inherited disorders affecting the peripheral nervous system. The hereditary neuropathies are divided into four major subcategories: hereditary motor and sensory neuropathy, hereditary sensory neuropathy, hereditary motor neuropathy, and hereditary sensory and autonomic neuropathy. The most common type is Charcot-Marie-Tooth disease, one of the hereditary motor and sensory neuropathies. Symptoms of the hereditary neuropathies vary according to the type and may include sensory symptoms such as numbness, tingling, and pain in the feet and hands; or motor symptoms such as weakness and loss of muscle bulk, particularly in the lower leg and feet muscles. Certain types of hereditary neuropathies can affect the autonomic nerves, resulting in impaired sweating, postural hypotension, or insensitivity to pain. Some people may have foot deformities such as high arches and hammer toes, thin calf muscles (having the appearance of an inverted champagne glass) or scoliosis (curvature of the spine). The symptoms of hereditary neuropathies may be apparent at birth or appear in middle or late life. They can vary among different family members, with some family members being more severely affected than others. The hereditary neuropathies can be diagnosed by blood tests for genetic testing, nerve conduction studies, and nerve biopsies.",Hereditary Neuropathies,0000146,NINDS,http://www.ninds.nih.gov/disorders/neuropathy_hereditary/neuropathy_hereditary.htm,C0598589,T047,Disorders What are the treatments for Hereditary Neuropathies ?,0000146-2,treatment,"There are no standard treatments for hereditary neuropathies. Treatment is mainly symptomatic and supportive. Medical treatment includes physical therapy and if needed, pain medication. Orthopedic surgery may be needed to correct severe foot or other skeletal deformities. Bracing may also be used to improve mobility.",Hereditary Neuropathies,0000146,NINDS,http://www.ninds.nih.gov/disorders/neuropathy_hereditary/neuropathy_hereditary.htm,C0598589,T047,Disorders What is the outlook for Hereditary Neuropathies ?,0000146-3,outlook,The prognosis for individuals with hereditary neuropathies depends upon the type of neuropathy. Some hereditary neuropathies have very mild symptoms and may go undiagnosed for many years. Other types are more severe and are associated with more disabilities. Genetic counseling is important to understand further details about the disease and prognosis.,Hereditary Neuropathies,0000146,NINDS,http://www.ninds.nih.gov/disorders/neuropathy_hereditary/neuropathy_hereditary.htm,C0598589,T047,Disorders what research (or clinical trials) is being done for Hereditary Neuropathies ?,0000146-4,research,"The NINDS supports research on neuromuscular disorders, such as hereditary neuropathies, aimed at learning more about these disorders and finding ways to prevent and treat them.",Hereditary Neuropathies,0000146,NINDS,http://www.ninds.nih.gov/disorders/neuropathy_hereditary/neuropathy_hereditary.htm,C0598589,T047,Disorders What is (are) Refsum Disease ?,0000147-1,information,"Adult Refsum disease (ARD) is a rare genetic disease that causes weakness or numbness of the hands and feet (peripheral neuropathy). Due to a genetic abnormality, people with ARD disease lack the enzyme in peroxisomes that break down phytanic acid, a type of fat found in certain foods. As a result, toxic levels of phytanic acid build up in the brain, blood, and other tissues. The disease usually begins in late childhood or early adulthood with increasing night blindness due to degeneration of the retina (retinitis pigmentosa). If the disease progresses, other symptoms may include deafness, loss of the sense of smell (anosmia), problems with balance and coordination (ataxia), dry and scaly skin (ichthyosis), and heartbeat abnormalities (cardiac arrhythmias). Some individuals will have shortened bones in their fingers or toes, or a visibly shortened fourth toe. Although the disease usually appears in early childhood, some people will not develop symptoms until their 40s or 50s.",Refsum Disease,0000147,NINDS,http://www.ninds.nih.gov/disorders/refsum/refsum.htm,C0034960,T047,Disorders What are the treatments for Refsum Disease ?,0000147-2,treatment,"The primary treatment for ARD is to restrict or avoid foods that contain phytanic acid, including dairy products; beef and lamb; and fatty fish such as tuna, cod, and haddock. Some individuals may also require plasma exchange (plasmapheresis) in which blood is drawn, filtered, and reinfused back into the body, to control the buildup of phytanic acid.",Refsum Disease,0000147,NINDS,http://www.ninds.nih.gov/disorders/refsum/refsum.htm,C0034960,T047,Disorders What is the outlook for Refsum Disease ?,0000147-3,outlook,"ARD is treatable because phytanic acid is not produced by the body, but is only found in foods. With treatment, muscle weakness, numbness, and dry and scaly skin generally disappear. However, vision and hearing problems may persist and the sense of smell may not return. Untreated, ARD can lead to sudden death caused by heartbeat abnormalities.",Refsum Disease,0000147,NINDS,http://www.ninds.nih.gov/disorders/refsum/refsum.htm,C0034960,T047,Disorders what research (or clinical trials) is being done for Refsum Disease ?,0000147-4,research,"The National Institute of Neurological Disorders and Stroke (NINDS) supports research related to Adult Refsum Disease through grants to major research institutions across the country. Research is focused on finding better ways to prevent, treat, and ultimately cure ARD and other peroxisomal disorders.",Refsum Disease,0000147,NINDS,http://www.ninds.nih.gov/disorders/refsum/refsum.htm,C0034960,T047,Disorders What is (are) Shingles ?,0000148-1,information,"Shingles (herpes zoster) is an outbreak of rash or blisters on the skin that is caused by the same virus that causes chickenpox the varicella-zoster virus. The first sign of shingles is often burning or tingling pain (which can be severe), or sometimes numbness or itch,generally on one side of the body. After several days or a week, a rash of fluid-filled blisters, similar to chickenpox, appears in one area on one side of the body. Shingles pain can be mild or intense. Some people have mostly itching; some feel pain from the gentlest touch or breeze. The most common location for shingles is a band, called a dermatome, spanning one side of the trunk around the waistline. Anyone who has had chickenpox is at risk for shingles. Scientists think that some of the virus particles from the original exposure to the varicella-zoster virus,leave the skin blisters and move into the nervous system. When the varicella-zoster virus reactivates, the virus moves back down the long nerve fibers that extend from the sensory cell bodies to the skin. The viruses multiply, the tell-tale rash erupts, and the person now has shingles.",Shingles,0000148,NINDS,http://www.ninds.nih.gov/disorders/shingles/shingles.htm,C0019360,T047,Disorders What are the treatments for Shingles ?,0000148-2,treatment,"The severity and duration of an attack of shingles can be significantly reduced by immediate treatment with antiviral drugs, which include acyclovir, valcyclovir, or famcyclovir. Antiviral drugs may also help stave off the painful after-effects of shingles known as postherpetic neuralgia. Other treatments for postherpetic neuralgia include steroids, antidepressants, anticonvulsants (including pregabalin and gabapentin enacarbil), and topical agents. The varicella zoster virus vaccine (Zostavax) has been approved by teh food and Drug Administration for adults age 50 and older. Researchers found that giving older adults the vaccine reduced the expected number of later cases of shingles by half. And in people who still got the disease despite immunization, the severity and complications of shingles were dramatically reduced. The shingles vaccine is a preventive therapy and not a treatment for those who already have shingles or long-lasting nerve pain (postherpetic neuralgia).",Shingles,0000148,NINDS,http://www.ninds.nih.gov/disorders/shingles/shingles.htm,C0019360,T047,Disorders What is the outlook for Shingles ?,0000148-3,outlook,"For most healthy people who receive treatment soon after the outbreak of blisters, the lesions heal, the pain subsides within 3 to 5 weeks, and the blisters often leave no scars. However, shingles is a serious threat in immunosuppressed individuals for example, those with HIV infection or who are receiving cancer treatments that can weaken their immune systems. People who receive organ transplants are also vulnerable to shingles because they are given drugs that suppress the immune system. A person with a shingles rash can pass the virus to someone, usually a child, who has never had chickenpox, but the child will develop chickenpox, not shingles. A person with chickenpox cannot give shingles to someone else. Shingles comes from the virus hiding inside the person's body, not from an outside source.",Shingles,0000148,NINDS,http://www.ninds.nih.gov/disorders/shingles/shingles.htm,C0019360,T047,Disorders what research (or clinical trials) is being done for Shingles ?,0000148-4,research,"The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge of the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. The NINDS supports research on viral proteins and virus defense mechanisms in neurons to understand why the varicella-zoster virus establishes latency uniquely in neurons and not in other cell types. Other studies focus on how VZV travels along sensory nerve fibers, or axons, and its role in latency and viral reactivation. Scientists also hope to identify molecular mechanisms that regulate the expression of latent viral genes, which may lead to targeted therapy to prevent reactivation. Other studies hope to better understand cellular changes that lead to persistent pain.",Shingles,0000148,NINDS,http://www.ninds.nih.gov/disorders/shingles/shingles.htm,C0019360,T047,Disorders What is (are) Herpes Zoster Oticus ?,0000149-1,information,"Herpes zoster oticus, also called Ramsay Hunt Syndrome or Ramsay Hunt Syndrome type II, is a common complication of shingles. Shingles is an infection caused by the varicella-zoster virus, which is the virus that causes chickenpox. Shingles occurs in people who have had chickenpox and represents a reactivation of the dormant varicella-zoster virus. Herpes zoster oticus, which is caused by the spread of the varicella-zoster virus to facial nerves, is characterized by intense ear pain, a rash around the ear, mouth, face, neck, and scalp, and paralysis of facial nerves. Other symptoms may include hearing loss, vertigo (abnormal sensation of movement), and tinnitus (abnormal sounds). Taste loss in the tongue and dry mouth and eyes may also occur.",Herpes Zoster Oticus,0000149,NINDS,http://www.ninds.nih.gov/disorders/ramsay2/ramsay2.htm,C0017409,T047,Disorders What are the treatments for Herpes Zoster Oticus ?,0000149-2,treatment,"Some cases of herpes zoster oticus do not require treatment. When treatment is needed, medications such as antiviral drugs or corticosteroids may be prescribed. Vertigo may be treated with the drug diazepam",Herpes Zoster Oticus,0000149,NINDS,http://www.ninds.nih.gov/disorders/ramsay2/ramsay2.htm,C0017409,T047,Disorders What is the outlook for Herpes Zoster Oticus ?,0000149-3,outlook,"Generally, the prognosis of herpes zoster oticus is good. However, in some cases, hearing loss may be permanent. Vertigo may last for days or weeks. Facial paralysis may be temporary or permanent.",Herpes Zoster Oticus,0000149,NINDS,http://www.ninds.nih.gov/disorders/ramsay2/ramsay2.htm,C0017409,T047,Disorders what research (or clinical trials) is being done for Herpes Zoster Oticus ?,0000149-4,research,The NINDS supports research on shingles and shingles-related conditions. Current studies focus on the relationship between the persistence of neurotropic viruses and development of neurological diseases including herpes simplex and varicella-zoster viruses.,Herpes Zoster Oticus,0000149,NINDS,http://www.ninds.nih.gov/disorders/ramsay2/ramsay2.htm,C0017409,T047,Disorders What is (are) Holoprosencephaly ?,0000150-1,information,"Holoprosencephaly is a disorder caused by the failure of the prosencephalon (the embryonic forebrain) to sufficiently divide into the double lobes of the cerebral hemispheres. The result is a single-lobed brain structure and severe skull and facial defects. In most cases of holoprosencephaly, the malformations are so severe that babies die before birth. In less severe cases, babies are born with normal or near-normal brain development and facial deformities that may affect the eyes, nose, and upper lip. There are three classifications of holoprosencephaly. Alobar, in which the brain has not divided at all, is usually associated with severe facial deformities. Semilobar, in which the brain's hemispheres have somewhat divided, causes an intermediate form of the disorder. Lobar, in which there is considerable evidence of separate brain hemispheres, is the least severe form. In some cases of lobar holoprosencephaly the baby's brain may be nearly normal. The least severe of the facial anomalies is the median cleft lip (premaxillary agenesis). The most severe is cyclopia, an abnormality characterized by a single eye located in the area normally occupied by the root of the nose, and a missing nose or a proboscis (a tubular-shaped nose) located above the eye. The least common facial anomaly is ethmocephaly, in which a proboscis separates closely-set eyes. Cebocephaly, another facial anomaly, is characterized by a small, flattened nose with a single nostril situated below incomplete or underdeveloped closely-set eyes.",Holoprosencephaly,0000150,NINDS,http://www.ninds.nih.gov/disorders/holoprosencephaly/holoprosencephaly.htm,C0079541,T019,Disorders What are the treatments for Holoprosencephaly ?,0000150-2,treatment,There is no standard course of treatment for holoprosencephaly. Treatment is symptomatic and supportive.,Holoprosencephaly,0000150,NINDS,http://www.ninds.nih.gov/disorders/holoprosencephaly/holoprosencephaly.htm,C0079541,T019,Disorders What is the outlook for Holoprosencephaly ?,0000150-3,outlook,The prognosis for individuals with the disorder depends on the severity of the brain and facial deformities.,Holoprosencephaly,0000150,NINDS,http://www.ninds.nih.gov/disorders/holoprosencephaly/holoprosencephaly.htm,C0079541,T019,Disorders what research (or clinical trials) is being done for Holoprosencephaly ?,0000150-4,research,"The NINDS supports and conducts a wide range of studies that focus on identifying and learning more about the factors involved in normal brain development. Recent research has identified specific genes that cause holoprosencephaly. The knowledge gained from these fundamental studies provides the foundation for understanding how to develop new ways to treat, and potentially prevent, this disorder.",Holoprosencephaly,0000150,NINDS,http://www.ninds.nih.gov/disorders/holoprosencephaly/holoprosencephaly.htm,C0079541,T019,Disorders What is (are) Tropical Spastic Paraparesis ?,0000151-1,information,"For several decades the term tropical spastic paraparesis (TSP) has been used to describe a chronic and progressive disease of the nervous system that affects adults living in equatorial areas of the world and causes progressive weakness, stiff muscles, muscle spasms, sensory disturbance, and sphincter dysfunction. The cause of TSP was obscure until the mid-1980s, when an important association was established between the human retrovirus human T-cell lymphotrophic virus type 1 (also known as HTLV-1) and TSP. TSP is now called HTLV-1 associated myelopathy/ tropical spastic paraparesis or HAM/TSP. The HTLV-1 retrovirus is thought to cause at least 80 percent of the cases of HAM/TSP by impairing the immune system. In addition to neurological symptoms of weakness and muscle stiffness or spasms, in rare cases individuals with HAM/TSP also exhibit uveitis (inflammation of the uveal tract of the eye), arthritis (inflammation of one or more joints), pulmonary lymphocytic alveolitis (inflammation of the lung), polymyositis (an inflammatory muscle disease), keratoconjunctivitis sicca (persistent dryness of the cornea and conjunctiva), and infectious dermatitis (inflammation of the skin). The other serious complication of HTLV-1 infection is the development of adult T-cell leukemia or lymphoma. Nervous system and blood-related complications occur only in a very small proportion of infected individuals, while most remain largely without symptoms throughout their lives. The HTLV-1 virus is transmitted person-to-person via infected cells: breast-feeding by mothers who are seropositive (in other words, have high levels of virus antibodies in their blood), sharing infected needles during intravenous drug use, or having sexual relations with a seropositive partner. Less than 2 percent of HTLV-1 seropositive carriers will become HAM/TSP patients.",Tropical Spastic Paraparesis,0000151,NINDS,http://www.ninds.nih.gov/disorders/tropical_spastic_paraparesis/tropical_spastic_paraparesis.htm,C0030481,T047,Disorders What are the treatments for Tropical Spastic Paraparesis ?,0000151-2,treatment,"There is no established treatment program for HAM/TSP. Corticosteroids may relieve some symptoms, but arent likely to change the course of the disorder. Clinical studies suggest that interferon alpha provides benefits over short periods and some aspects of disease activity may be improved favorably using interferon beta. Stiff and spastic muscles may be treated with lioresal or tizanidine. Urinary dysfunction may be treated with oxybutynin.",Tropical Spastic Paraparesis,0000151,NINDS,http://www.ninds.nih.gov/disorders/tropical_spastic_paraparesis/tropical_spastic_paraparesis.htm,C0030481,T047,Disorders What is the outlook for Tropical Spastic Paraparesis ?,0000151-3,outlook,"HAM/TSP is a progressive disease, but it is rarely fatal. Most individuals live for several decades after the diagnosis. Their prognosis improves if they take steps to prevent urinary tract infection and skin sores, and if they participate in physical and occupational therapy programs.",Tropical Spastic Paraparesis,0000151,NINDS,http://www.ninds.nih.gov/disorders/tropical_spastic_paraparesis/tropical_spastic_paraparesis.htm,C0030481,T047,Disorders what research (or clinical trials) is being done for Tropical Spastic Paraparesis ?,0000151-4,research,"The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research related to HAM/TSP in laboratories at the NIH, and support additional research through grants to major medical institutions across the country. Much of this research focuses on finding better ways to prevent, treat, and ultimately cure disorders such as HAM/TSP.",Tropical Spastic Paraparesis,0000151,NINDS,http://www.ninds.nih.gov/disorders/tropical_spastic_paraparesis/tropical_spastic_paraparesis.htm,C0030481,T047,Disorders What is (are) Huntington's Disease ?,0000152-1,information,"Huntington's disease (HD) is an inherited disorder that causes degeneration of brain cells, called neurons, in motor control regions of the brain, as well as other areas. Symptoms of the disease, which gets progressively worse, include uncontrolled movements (called chorea), abnormal body postures, and changes in behavior, emotion, judgment, and cognition. People with HD also develop impaired coordination, slurred speech, and difficulty feeding and swallowing. HD typically begins between ages 30 and 50. An earlier onset form called juvenile HD, occurs under age 20. Symptoms of juvenile HD differ somewhat from adult onset HD and include unsteadiness, rigidity, difficulty at school, and seizures. More than 30,000 Americans have HD. Huntingtons disease is caused by a mutation in the gene for a protein called huntingtin. The defect causes the cytosine, adenine, and guanine (CAG) building blocks of DNA to repeat many more times than is normal. Each child of a parent with HD has a 50-50 chance of inheriting the HD gene. If a child does not inherit the HD gene, he or she will not develop the disease and generally cannot pass it to subsequent generations. There is a small risk that someone who has a parent with the mutated gene but who did not inherit the HD gene may pass a possibly harmful genetic sequence to her/his children. A person who inherits the HD gene will eventually develop the disease. A genetic test, coupled with a complete medical history and neurological and laboratory tests, helps physicians diagnose HD.",Huntington's Disease,0000152,NINDS,http://www.ninds.nih.gov/disorders/huntington/huntington.htm,C0020179,T047,Disorders What are the treatments for Huntington's Disease ?,0000152-2,treatment,"There is no treatment that can stop or reverse the course of HD. Tetrabenazine is prescribed for treating Huntingtons-associated chorea. It is the only drug approved by the U.S. Food and Drug Administration specifically for use against HD. Antipsychotic drugs may help to alleviate chorea and may also be used to help control hallucinations, delusions, and violent outbursts. Drugs may be prescribed to treat depression and anxiety. Drugs used to treat the symptoms of HD may have side effects such as fatigue, sedation, decreased concentration, restlessness, or hyperexcitability, and should be only used when symptoms create problems for the individual.",Huntington's Disease,0000152,NINDS,http://www.ninds.nih.gov/disorders/huntington/huntington.htm,C0020179,T047,Disorders What is the outlook for Huntington's Disease ?,0000152-3,outlook,"Huntingtons disease causes disability that gets worse over time. People with this disease usually die within 15 to 20 years following diagnosis. At this time, no treatment is available to slow, stop or reverse the course of HD.",Huntington's Disease,0000152,NINDS,http://www.ninds.nih.gov/disorders/huntington/huntington.htm,C0020179,T047,Disorders what research (or clinical trials) is being done for Huntington's Disease ?,0000152-4,research,"The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system, and to use that knowledge to reduce the burden of neurological disease. A major focus of research on HD is to understand the toxicity of mutant huntingin protein to brain cells and to develop potential drugs for counteracting it. Animal models of the disorder allow scientists to study mechanisms of the disease and to move forward with strategies most likely to work and least likely to cause harm for individuals. The HD gene discovery is allowing scientists to recruit individuals who carry the HD gene into clinical studies early before they become ill. Researchers hope to understand how the defective gene affects various structures in the brain and the body's chemistry and metabolism. Since some of the clinical symptoms in neurodegenerative diseases may be caused by the ultimate malfunctioning of neuronal circuits rather than by the loss of individual cells, scientists are using cutting-edge methods such as optogenetics (where neurons are activated or silenced in the brains of living animals using light beams) to probe the cause and progression of such circuit defects in HD. Scientists are also using stem cells to study disease mechanisms and test potential therapeutic drugs. The NINDS-funded PREDICT-HD study seeks to identify biomarkers (biological changes that can be used to predict, diagnose, or monitor a disease) for HD. One goal of PREDICT-HD is to determine if the progression of the disease correlates with changes in brain scans images, or with chemical changes in blood, urine, or cerebrospinal fluid. A large and related NINDS-supported study aims to identify additional genetic factors in people that influence the course of the disease. Since individuals with the same CAG expansions can differ widely in the age of disease onset and severity of symptoms, researchers are trying to identify variations in the genomes of individuals with HD that account for those differences in the hopes that they will point to new targets for disease intervention and therapy.",Huntington's Disease,0000152,NINDS,http://www.ninds.nih.gov/disorders/huntington/huntington.htm,C0020179,T047,Disorders What is (are) Hydranencephaly ?,0000153-1,information,"Hydranencephaly is a rare condition in which the brain's cerebral hemispheres are absent and replaced by sacs filled with cerebrospinal fluid. An infant with hydranencephaly may appear normal at birth. The infant's head size and spontaneous reflexes such as sucking, swallowing, crying, and moving the arms and legs may all seem normal. However, after a few weeks the infant usually becomes irritable and has increased muscle tone. After a few months of life, seizures and hydrocephalus (excessive accumulation of cerebrospinal fluid in the brain) may develop. Other symptoms may include visual impairment, lack of growth, deafness, blindness, spastic quadriparesis (paralysis), and intellectual deficits. Hydranencephaly is considered to be an extreme form of porencephaly (a rare disorder characterized by a cyst or cavity in the cerebral hemispheres) and may be caused by vascular infections or traumatic disorders after the 12th week of pregnancy. Diagnosis may be delayed for several months because early behavior appears to be relatively normal. Some infants may have additional abnormalities at birth including seizures, myoclonus (spasm or twitching of a muscle or group of muscles), and respiratory problems.",Hydranencephaly,0000153,NINDS,http://www.ninds.nih.gov/disorders/hydranencephaly/hydranencephaly.htm,C0020225,T019,Disorders What are the treatments for Hydranencephaly ?,0000153-2,treatment,There is no definitive treatment for hydranencephaly. Treatment is symptomatic and supportive. Hydrocephalus may be treated with a shunt (a surgically implanted tube that diverts fluid from one pathway to another).,Hydranencephaly,0000153,NINDS,http://www.ninds.nih.gov/disorders/hydranencephaly/hydranencephaly.htm,C0020225,T019,Disorders What is the outlook for Hydranencephaly ?,0000153-3,outlook,"The outlook for children with hydranencephaly is generally poor, and many children with this disorder die before age 1. However, in rare cases, children with hydranencephaly may survive for several years or more.",Hydranencephaly,0000153,NINDS,http://www.ninds.nih.gov/disorders/hydranencephaly/hydranencephaly.htm,C0020225,T019,Disorders what research (or clinical trials) is being done for Hydranencephaly ?,0000153-4,research,"The NINDS conducts and supports a wide range of studies that explore the complex mechanisms of normal brain development. The knowledge gained from these fundamental studies provides the foundation for understanding how this process can go awry and, thus, offers hope for new means to treat and prevent developmental brain disorders, including hydranencephaly.",Hydranencephaly,0000153,NINDS,http://www.ninds.nih.gov/disorders/hydranencephaly/hydranencephaly.htm,C0020225,T019,Disorders What is (are) Hydrocephalus ?,0000154-1,information,"Hydrocephalus is a condition in which the primary characteristic is excessive accumulation of cerebrospinal fluid (CSF) -- the clear fluid that surrounds the brain and spinal cord. This excessive accumulation results in an abnormal dilation of the spaces in the brain called ventricles. This dilation causes potentially harmful pressure on the tissues of the brain. Hydrocephalus may be congenital or acquired. Congenital hydrocephalus is present at birth and may be caused by genetic abnormalities or developmental disorders such as spina bifida and encephalocele. Acquired hydrocephalus develops at the time of birth or at some point afterward and can affect individuals of all ages. For example, hydrocephalus ex-vacuo occurs when there is damage to the brain caused by stroke or traumatic injury. Normal pressure hydrocephalus occurs most often among the elderly. It may result from a subarachnoid hemorrhage, head trauma, infection, tumor, or complications of surgery, although many people develop normal pressure hydrocephalus without an obvious cause. Symptoms of hydrocephalus vary with age, disease progression, and individual differences in tolerance to CSF. In infancy, the most obvious indication of hydrocephalus is often the rapid increase in head circumference or an unusually large head size. In older children and adults, symptoms may include headache followed by vomiting, nausea, papilledema (swelling of the optic disk, which is part of the optic nerve), downward deviation of the eyes (called ""sunsetting""), problems with balance, poor coordination, gait disturbance, urinary incontinence, slowing or loss of development (in children), lethargy, drowsiness, irritability, or other changes in personality or cognition, including memory loss. Hydrocephalus is diagnosed through clinical neurological evaluation and by using cranial imaging techniques such as ultrasonography, computer tomography (CT), magnetic resonance imaging (MRI), or pressure-monitoring techniques.",Hydrocephalus,0000154,NINDS,http://www.ninds.nih.gov/disorders/hydrocephalus/hydrocephalus.htm,C0020255,T047,Disorders What are the treatments for Hydrocephalus ?,0000154-2,treatment,"Hydrocephalus is most often treated with the surgical placement of a shunt system. This system diverts the flow of CSF from a site within the central nervous system to another area of the body where it can be absorbed as part of the circulatory process. A limited number of individuals can be treated with an alternative procedure called third ventriculostomy. In this procedure, a small hole is made in the floor of the third ventricle, allowing the CSF to bypass the obstruction and flow toward the site of resorption around the surface of the brain.",Hydrocephalus,0000154,NINDS,http://www.ninds.nih.gov/disorders/hydrocephalus/hydrocephalus.htm,C0020255,T047,Disorders What is the outlook for Hydrocephalus ?,0000154-3,outlook,"The prognosis for individuals diagnosed with hydrocephalus is difficult to predict, although there is some correlation between the specific cause of hydrocephalus and the patient's outcome. Prognosis is further complicated by the presence of associated disorders, the timeliness of diagnosis, and the success of treatment. The symptoms of normal pressure hydrocephalus usually get worse over time if the condition is not treated, although some people may experience temporary improvements. If left untreated, progressive hydrocephalus is fatal, with rare exceptions. The parents of children with hydrocephalus should be aware that hydrocephalus poses risks to both cognitive and physical development. Treatment by an interdisciplinary team of medical professionals, rehabilitation specialists, and educational experts is critical to a positive outcome. Many children diagnosed with the disorder benefit from rehabilitation therapies and educational interventions, and go on to lead normal lives with few limitations.",Hydrocephalus,0000154,NINDS,http://www.ninds.nih.gov/disorders/hydrocephalus/hydrocephalus.htm,C0020255,T047,Disorders what research (or clinical trials) is being done for Hydrocephalus ?,0000154-4,research,"The NINDS conducts and supports a wide range of fundamental studies that explore the complex mechanisms of normal brain development. Much of this research focuses on finding better ways to protect, treat, and ultimately cure disorders such as hydrocephalus.",Hydrocephalus,0000154,NINDS,http://www.ninds.nih.gov/disorders/hydrocephalus/hydrocephalus.htm,C0020255,T047,Disorders What is (are) Normal Pressure Hydrocephalus ?,0000155-1,information,"Normal pressure hydrocephalus (NPH) is an abnormal buildup of cerebrospinal fluid (CSF) in the brain's ventricles, or cavities. It occurs if the normal flow of CSF throughout the brain and spinal cord is blocked in some way. This causes the ventricles to enlarge, putting pressure on the brain. Normal pressure hydrocephalus can occur in people of any age, but it is most common in the elderly. It may result from a subarachnoid hemorrhage, head trauma, infection, tumor, or complications of surgery. However, many people develop NPH even when none of these factors are present. In these cases the cause of the disorder is unknown. Symptoms of NPH include progressive mental impairment and dementia, problems with walking, and impaired bladder control. The person also may have a general slowing of movements or may complain that his or her feet feel ""stuck."" Because these symptoms are similar to those of other disorders such as Alzheimer's disease, Parkinson's disease, and Creutzfeldt-Jakob disease, the disorder is often misdiagnosed. Many cases go unrecognized and are never properly treated. Doctors may use a variety of tests, including brain scans (CT and/or MRI), a spinal tap or lumbar catheter, intracranial pressure monitoring, and neuropsychological tests, to help them diagnose NPH and rule out other conditions.",Normal Pressure Hydrocephalus,0000155,NINDS,http://www.ninds.nih.gov/disorders/normal_pressure_hydrocephalus/normal_pressure_hydrocephalus.htm,C0460139,T047,Disorders What are the treatments for Normal Pressure Hydrocephalus ?,0000155-2,treatment,Treatment for NPH involves surgical placement of a shunt in the brain to drain excess CSF into the abdomen where it can be absorbed as part of the normal circulatory process. This allows the brain ventricles to return to their normal size. Regular follow-up care by a physician is important in order to identify subtle changes that might indicate problems with the shunt.,Normal Pressure Hydrocephalus,0000155,NINDS,http://www.ninds.nih.gov/disorders/normal_pressure_hydrocephalus/normal_pressure_hydrocephalus.htm,C0460139,T047,Disorders What is the outlook for Normal Pressure Hydrocephalus ?,0000155-3,outlook,"The symptoms of NPH usually get worse over time if the condition is not treated, although some people may experience temporary improvements. While the success of treatment with shunts varies from person to person, some people recover almost completely after treatment and have a good quality of life. Early diagnosis and treatment improves the chance of a good recovery. Without treatment, symptoms may worsen and cause death.",Normal Pressure Hydrocephalus,0000155,NINDS,http://www.ninds.nih.gov/disorders/normal_pressure_hydrocephalus/normal_pressure_hydrocephalus.htm,C0460139,T047,Disorders what research (or clinical trials) is being done for Normal Pressure Hydrocephalus ?,0000155-4,research,"The NINDS conducts and supports research on neurological disorders, including normal pressure hydrocephalus. Research on disorders such as normal pressure hydrocephalus focuses on increasing knowledge and understanding of the disorder, improving diagnostic techniques and neuroimaging, and finding improved treatments and preventions.",Normal Pressure Hydrocephalus,0000155,NINDS,http://www.ninds.nih.gov/disorders/normal_pressure_hydrocephalus/normal_pressure_hydrocephalus.htm,C0460139,T047,Disorders What is (are) Hydromyelia ?,0000156-1,information,"Hydromyelia refers to an abnormal widening of the central canal of the spinal cord that creates a cavity in which cerebrospinal fluid (commonly known as spinal fluid) can accumulate. As spinal fluid builds up, it may put abnormal pressure on the spinal cord and damage nerve cells and their connections. Hydromyelia is sometimes used interchangeably with syringomyelia, the name for a condition that also involves cavitation in the spinal cord. In hydromyelia, the cavity that forms is connected to the fourth ventricle in the brain, and is almost always associated in infants and children with hydrocephalus or birth defects such as Chiari Malformation II and Dandy-Walker syndrome. Syringomyelia, however, features a closed cavity and occurs primarily in adults, the majority of whom have Chiari Malformation type 1 or have experienced spinal cord trauma. Symptoms, which may occur over time, include weakness of the hands and arms, stiffness in the legs; and sensory loss in the neck and arms. Some individuals have severe pain in the neck and arms. Diagnosis is made by magnetic resonance imaging (MRI), which reveals abnormalities in the anatomy of the spinal cord..",Hydromyelia,0000156,NINDS,http://www.ninds.nih.gov/disorders/hydromyelia/hydromyelia.htm,C0152444,T019,Disorders What are the treatments for Hydromyelia ?,0000156-2,treatment,"Generally, physicians recommend surgery for children with hydromyelia if they have moderate or severe neurological deficits. Surgical treatment re-establishes the normal flow of spinal fluid.",Hydromyelia,0000156,NINDS,http://www.ninds.nih.gov/disorders/hydromyelia/hydromyelia.htm,C0152444,T019,Disorders What is the outlook for Hydromyelia ?,0000156-3,outlook,"Surgery may permanently or temporarily relieve symptoms, but it can also cause a number of severe complications. In rare cases, hydromyelia may resolve on its own without any medical intervention.",Hydromyelia,0000156,NINDS,http://www.ninds.nih.gov/disorders/hydromyelia/hydromyelia.htm,C0152444,T019,Disorders what research (or clinical trials) is being done for Hydromyelia ?,0000156-4,research,"The National Institute of Neurological Disorders and Stroke (NINDS) conducts research related to hydromyelia in its clinics and laboratories at The National Institutes of Health (NIH) and supports additional research through grants to major research institutions across the country. Much of this research focuses on finding better ways to prevent, treat, and ultimately cure abnormalities of the spinal cord such as hydromyelia.",Hydromyelia,0000156,NINDS,http://www.ninds.nih.gov/disorders/hydromyelia/hydromyelia.htm,C0152444,T019,Disorders What is (are) Hypersomnia ?,0000157-1,information,"Hypersomnia is characterized by recurrent episodes of excessive daytime sleepiness or prolonged nighttime sleep. Different from feeling tired due to lack of or interrupted sleep at night, persons with hypersomnia are compelled to nap repeatedly during the day, often at inappropriate times such as at work, during a meal, or in conversation. These daytime naps usually provide no relief from symptoms. Patients often have difficulty waking from a long sleep, and may feel disoriented. Other symptoms may include anxiety, increased irritation, decreased energy, restlessness, slow thinking, slow speech, loss of appetite, hallucinations, and memory difficulty. Some patients lose the ability to function in family, social, occupational, or other settings. Hypersomnia may be caused by another sleep disorder (such as narcolepsy or sleep apnea), dysfunction of the autonomic nervous system, or drug or alcohol abuse. In some cases it results from a physical problem, such as a tumor, head trauma, or injury to the central nervous system. Certain medications, or medicine withdrawal, may also cause hypersomnia. Medical conditions including multiple sclerosis, depression, encephalitis, epilepsy, or obesity may contribute to the disorder. Some people appear to have a genetic predisposition to hypersomnia; in others, there is no known cause. Typically, hypersomnia is first recognized in adolescence or young adulthood.",Hypersomnia,0000157,NINDS,http://www.ninds.nih.gov/disorders/hypersomnia/hypersomnia.htm,C0917799,T184,Disorders What are the treatments for Hypersomnia ?,0000157-2,treatment,"Treatment is symptomatic in nature. Stimulants, such as amphetamine, methylphenidate, and modafinil, may be prescribed. Other drugs used to treat hypersomnia include clonidine, levodopa, bromocriptine, antidepressants, and monoamine oxidase inhibitors. Changes in behavior (for example avoiding night work and social activities that delay bed time) and diet may offer some relief. Patients should avoid alcohol and caffeine.",Hypersomnia,0000157,NINDS,http://www.ninds.nih.gov/disorders/hypersomnia/hypersomnia.htm,C0917799,T184,Disorders What is the outlook for Hypersomnia ?,0000157-3,outlook,"The prognosis for persons with hypersomnia depends on the cause of the disorder. While the disorder itself is not life threatening, it can have serious consequences, such as automobile accidents caused by falling asleep while driving. The attacks usually continue indefinitely.",Hypersomnia,0000157,NINDS,http://www.ninds.nih.gov/disorders/hypersomnia/hypersomnia.htm,C0917799,T184,Disorders what research (or clinical trials) is being done for Hypersomnia ?,0000157-4,research,"The NINDS supports and conducts research on sleep disorders such as hypersomnia. The goal of this research is to increase scientific understanding of the condition, find improved methods of diagnosing and treating it, and discover ways to prevent it.",Hypersomnia,0000157,NINDS,http://www.ninds.nih.gov/disorders/hypersomnia/hypersomnia.htm,C0917799,T184,Disorders What is (are) Hypertonia ?,0000158-1,information,"Hypertonia is a condition in which there is too much muscle tone so that arms or legs, for example, are stiff and difficult to move. Muscle tone is regulated by signals that travel from the brain to the nerves and tell the muscle to contract. Hypertonia happens when the regions of the brain or spinal cord that control these signals are damaged. This can occur for many reasons, such as a blow to the head, stroke, brain tumors, toxins that affect the brain, neurodegenerative processes such as in multiple sclerosis or Parkinson's disease, or neurodevelopmental abnormalities such as in cerebral palsy. Hypertonia often limits how easily the joints can move. If it affects the legs, walking can become stiff and people may fall because it is difficult for the body to react quickly enough to regain balance. If hypertonia is severe, it can cause a joint to become ""frozen,"" which doctors call a joint contracture. Spasticity is a term that is often used interchangeably with hypertonia. Spasticity, however, is a particular type of hypertonia in which the muscles' spasms are increased by movement. In this type, patients usually have exaggerated reflex responses. Rigidity is another type of hypertonia in which the muscles have the same amount of stiffness independent of the degree of movement. Rigidity usually occurs in diseases such as Parkinson's disease, that involve the basal ganglia (a deep region of the brain). To distinguish these types of hypertonia, a doctor will as the patient to relax and then will move the arm or leg at different speeds and in a variety of directions.",Hypertonia,0000158,NINDS,http://www.ninds.nih.gov/disorders/hypertonia/hypertonia.htm,C0026826,T184,Disorders What are the treatments for Hypertonia ?,0000158-2,treatment,"Muscle relaxing drugs such as baclofen, diazepam, and dantrolene may be prescribed to reduce spasticity. All of these drugs can be taken by mouth, but baclofen may also be injected directly into the cerebrospinal fluid through an implanted pump. Botulinum toxin is often used to relieve hypertonia in a specific area of the body because its effects are local, not body-wide. People with hypertonia should try to preserve as much movement as possibly by exercising within their limits and using physical therapy. Drugs that affect the dopamine system (dopamine is a chemical in the brain) such as levodopa/carbidopa, or entacapone, are often used to treat the rigidity associated with Parkinson's disease.",Hypertonia,0000158,NINDS,http://www.ninds.nih.gov/disorders/hypertonia/hypertonia.htm,C0026826,T184,Disorders What is the outlook for Hypertonia ?,0000158-3,outlook,"The prognosis depends upon the severity of the hypertonia and its cause. In some cases, such as cerebral palsy, the hypertonia may not change over the course of a lifetime. in other cases, the hypertonia may worsen along with the underlying disease If the hypertonia is mild, it has little or no effect on a person's health. If there is moderate hypertonia, falls or joint contractures may have an impact on a person's health and safety. If the hypertonia is so severe that is caused immobility, potential consequences include increased bone fragility and fracture, infection, bed sores, and pneumonia.",Hypertonia,0000158,NINDS,http://www.ninds.nih.gov/disorders/hypertonia/hypertonia.htm,C0026826,T184,Disorders what research (or clinical trials) is being done for Hypertonia ?,0000158-4,research,NINDS supports research on brain and spinal cord disorders that can cause hypertonia. The goals of this research are to learn more about how the nervous system adapts after injury or disease and to find ways to prevent and treat these disorders.,Hypertonia,0000158,NINDS,http://www.ninds.nih.gov/disorders/hypertonia/hypertonia.htm,C0026826,T184,Disorders What is (are) Inclusion Body Myositis ?,0000159-1,information,"Inclusion body myositis (IBM) is one of a group of muscle diseases known as the inflammatory myopathies, which are characterized by chronic, progressive muscle inflammation accompanied by muscle weakness. The onset of muscle weakness in IBM is generally gradual (over months or years) and affects both proximal (close to the trunk of the body) and distal (further away from the trunk) muscles. Muscle weakness may affect only one side of the body. Falling and tripping are usually the first noticeable symptoms of IBM. For some individuals, the disorder begins with weakness in the wrists and fingers that causes difficulty with pinching, buttoning, and gripping objects. There may be weakness of the wrist and finger muscles and atrophy (thinning or loss of muscle bulk) of the forearm muscles and quadricep muscles in the legs. Difficulty swallowing occurs in approximately half of IBM cases. Symptoms of the disease usually begin after the age of 50, although the disease can occur earlier. IBM occurs more frequently in men than in women.",Inclusion Body Myositis,0000159,NINDS,http://www.ninds.nih.gov/disorders/inclusion_body_myositis/inclusion_body_myositis.htm,C0238190,T047,Disorders What are the treatments for Inclusion Body Myositis ?,0000159-2,treatment,"There is no cure for IBM, nor is there a standard course of treatment. The disease is generally unresponsive to corticosteroids and immunosuppressive drugs. Some evidence suggests that intravenous immunoglobulin may have a slight, but short-lasting, beneficial effect in a small number of cases. Physical therapy may be helpful in maintaining mobility. Other therapy is symptomatic and supportive.",Inclusion Body Myositis,0000159,NINDS,http://www.ninds.nih.gov/disorders/inclusion_body_myositis/inclusion_body_myositis.htm,C0238190,T047,Disorders What is the outlook for Inclusion Body Myositis ?,0000159-3,outlook,IBM is generally resistant to all therapies and its rate of progression appears to be unaffected by currently available treatments.,Inclusion Body Myositis,0000159,NINDS,http://www.ninds.nih.gov/disorders/inclusion_body_myositis/inclusion_body_myositis.htm,C0238190,T047,Disorders what research (or clinical trials) is being done for Inclusion Body Myositis ?,0000159-4,research,"The National Institute of Neurological Disorders and Stroke (NINDS), National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institute of Environmental Health Sciences (NIEHS) and other institutes of the National Institutes of Health (NIH) conduct research relating to IBM in laboratories at the NIH and support additional research through grants to major medical institutions across the country. Currently funded research is exploring patterns of gene expression among the inflammatory myopathies, the role of viral infection as a precursor to the disorders, and the safety and efficacy of various treatment regimens.",Inclusion Body Myositis,0000159,NINDS,http://www.ninds.nih.gov/disorders/inclusion_body_myositis/inclusion_body_myositis.htm,C0238190,T047,Disorders What is (are) Neuroaxonal dystrophy ?,0000160-1,information,"Infantile neuroaxonal dystrophy (INAD) is a rare inherited neurological disorder. It affects axons, the part of a nerve cell that carries messages from the brain to other parts of the body, and causes progressive loss of vision, muscular control, and mental skills. While the basic genetic and metabolic causes are unknown, INAD is the result of an abnormal build-up of toxic substances in nerves that communicate with muscles, skin, and the conjunctive tissue around the eyes. Symptoms usually begin within the first 2 years of life, with the loss of head control and the ability to sit, crawl, or walk, accompanied by deterioration in vision and speech. Some children may have seizures. Distinctive facial deformities may be present at birth, including a prominent forehead, crossed eyes, an unusually small nose or jaw, and large, low-set ears. INAD is an autosomal recessive disorder, which means that both parents must be carriers of the defective gene that causes INAD to pass it on to their child. Electrophysiology (nerve conduction velocities) may be helpful for diagnosis, although diagnosis is usually confirmed by tissue biopsy of skin, rectum, nerve or conjunctive tissue to confirm the presence of characteristic swellings (spheroid bodies) in the nerve axons.",Neuroaxonal dystrophy,0000160,NINDS,http://www.ninds.nih.gov/disorders/neuroaxonal_dystrophy/neuroaxonal_dystrophy.htm,C0338473,T047,Disorders What are the treatments for Neuroaxonal dystrophy ?,0000160-2,treatment,"There is no cure for INAD and no treatment that can stop the progress of the disease. Treatment is symptomatic and supportive. Doctors can prescribe medications for pain relief and sedation. Physiotherapists and other physical therapists can teach parents and caregivers how to position and seat their child, and to exercise arms and legs to maintain comfort.",Neuroaxonal dystrophy,0000160,NINDS,http://www.ninds.nih.gov/disorders/neuroaxonal_dystrophy/neuroaxonal_dystrophy.htm,C0338473,T047,Disorders What is the outlook for Neuroaxonal dystrophy ?,0000160-3,outlook,"INAD is a progressive disease. Once symptoms begin, they will worsen over time. Generally, a babys development starts to slow down between the ages of 6 months to 3 years. The first symptoms may be slowing of motor and mental development, followed by loss or regression of previously acquired skills. Rapid, wobbly eye movements and squints may be the first symptoms, followed by floppiness in the body and legs (more than in the arms). For the first few years, a baby with INAD will be alert and responsive, despite being increasingly physically impaired. Eventually, because of deterioration in vision, speech, and mental skills, the child will lose touch with its surroundings. Death usually occurs between the ages of 5 to 10 years.",Neuroaxonal dystrophy,0000160,NINDS,http://www.ninds.nih.gov/disorders/neuroaxonal_dystrophy/neuroaxonal_dystrophy.htm,C0338473,T047,Disorders what research (or clinical trials) is being done for Neuroaxonal dystrophy ?,0000160-4,research,"Researchers continue to search for the defective gene that causes INAD in hopes of developing drugs that can stop the disease. The National Institute of Neurological Disorders and Stroke (NINDS) conducts research related to INAD in its laboratories at the National Institutes of Health (NIH), and also supports additional research through grants to major medical institutions across the country. Much of this research focuses on finding better ways to prevent, treat, and ultimately cure disorders such as INAD.",Neuroaxonal dystrophy,0000160,NINDS,http://www.ninds.nih.gov/disorders/neuroaxonal_dystrophy/neuroaxonal_dystrophy.htm,C0338473,T047,Disorders What is (are) Infantile Refsum Disease ?,0000161-1,information,"Infantile Refsum disease (IRD) is a medical condition within the Zellweger spectrum of perixisome biogenesis disorders (PBDs), inherited genetic disorders that damage the white matter of the brain and affect motor movements. PBDs are part of a larger group of disorders called the leukodystrophies. The Zellweger spectrum of PBDs include related, but not more severe, disorders referred to as Zellweger syndrome (ZS) and neonatal adrenoleukodystrophy. Collectively, these disorders are caused by inherited defects in any one of 12 genes, called PEX genes, which are required for the normal formation and function of peroxisomes. Peroxisomes are cell structures required for the normal formation and function of the brain, eyes, liver, kidneys, and bone. They contain enzymes that break down toxic substances in the cells, including very long chain fatty acids and phytanic acid (a type of fat found in certain foods), and synthesize certain fatty materials (lipids) that are required for cell function. When peroxisomes are not functioning, there is over-accumulation of very long chain fatty acids and phytanic acid, and a lack of bile acids and plasmalogens--specialized lipids found in cell membranes and the myelin sheaths and encase and protect nerve fibers.. IRD has some residual perixisome function, resulting in less severe disease than in Zellweger syndrome. Symptoms of IRD begin in infancy with retinitis pigmentosa, a visual impairment that often leads to blindness, and hearing problems that usually progress to deafness by early childhood. Other symptoms may include rapid, jerky eye movements (nystagmus); floppy muscle tone (hypotonia) and lack of muscle coordination (ataxia); mental and growth disabilities; abnormal facial features; enlarged liver; and white matter abnormalities of brain myelin. At the mildest extreme of the disorder, intellect may be preserved. Although Adult Refsum disease and IRD have similar names, they are separate disorders caused by different gene defects.",Infantile Refsum Disease,0000161,NINDS,http://www.ninds.nih.gov/disorders/refsum_infantile/refsum_infantile.htm,C0282527,T047,Disorders What are the treatments for Infantile Refsum Disease ?,0000161-2,treatment,"The primary treatment for IRD is to avoid foods that contain phytanic acid, including dairy products; beef and lamb; and fatty fish such as tuna, cod, and haddock. Although this prevents the accumulation of phytanic acid, it does not address the accumulation of very long chain fatty acids, and the deficiency of bile acids and plasmalogens.",Infantile Refsum Disease,0000161,NINDS,http://www.ninds.nih.gov/disorders/refsum_infantile/refsum_infantile.htm,C0282527,T047,Disorders What is the outlook for Infantile Refsum Disease ?,0000161-3,outlook,"IRD is a fatal disease, but some children will survive into their teens and twenties, and possibly even beyond.",Infantile Refsum Disease,0000161,NINDS,http://www.ninds.nih.gov/disorders/refsum_infantile/refsum_infantile.htm,C0282527,T047,Disorders what research (or clinical trials) is being done for Infantile Refsum Disease ?,0000161-4,research,"The National Institute of Neurological Disorders and Stroke (NINDS) conducts research related to IRDin its laboratories at the National Institutes of Health (NIH), and also supports additional research through grants to major medical institutions across the country. Research is focused on finding better ways to prevent, treat, and ultimately cure disorders such as the PBDs.",Infantile Refsum Disease,0000161,NINDS,http://www.ninds.nih.gov/disorders/refsum_infantile/refsum_infantile.htm,C0282527,T047,Disorders What is (are) Infantile Spasms ?,0000162-1,information,"An infantile spasm (IS) is a specific type of seizure seen in an epilepsy syndrome of infancy and childhood known as West Syndrome. West Syndrome is characterized by infantile spasms, developmental regression, and a specific pattern on electroencephalography (EEG) testing called hypsarrhythmia (chaotic brain waves). The onset of infantile spasms is usually in the first year of life, typically between 4-8 months. The seizures primarily consist of a sudden bending forward of the body with stiffening of the arms and legs; some children arch their backs as they extend their arms and legs. Spasms tend to occur upon awakening or after feeding, and often occur in clusters of up to 100 spasms at a time. Infants may have dozens of clusters and several hundred spasms per day. Infantile spasms usually stop by age five, but may be replaced by other seizure types. Many underlying disorders, such as birth injury, metabolic disorders, and genetic disorders can give rise to spasms, making it important to identify the underlying cause. In some children, no cause can be found.",Infantile Spasms,0000162,NINDS,http://www.ninds.nih.gov/disorders/infantilespasms/infantilespasms.htm,C0037769,T047,Disorders What are the treatments for Infantile Spasms ?,0000162-2,treatment,"Treatment with corticosteroids such as prednisone is standard, although serious side effects can occur. Several newer antiepileptic medications, such as topiramate may ease some symptoms. Vigabatrin (Sabril) has been approved by the U.S. Food and Drug Administration to treat infantile spasms in children ages one month to two years. Some children have spasms as the result of brain lesions, and surgical removal of these lesions may result in improvement.",Infantile Spasms,0000162,NINDS,http://www.ninds.nih.gov/disorders/infantilespasms/infantilespasms.htm,C0037769,T047,Disorders What is the outlook for Infantile Spasms ?,0000162-3,outlook,"The prognosis for children with IS is dependent on the underlying causes of the seizures. The intellectual prognosis for children with IS is generally poor because many babies with IS have neurological impairment prior to the onset of spasms. Epileptic spasms usually reduce in number by mid-childhood, but more than half of the children with IS will develop other types of seizures. There appears to be a close relationship between IS and Lennox-Gastaut Syndrome, an epileptic disorder of later childhood.",Infantile Spasms,0000162,NINDS,http://www.ninds.nih.gov/disorders/infantilespasms/infantilespasms.htm,C0037769,T047,Disorders what research (or clinical trials) is being done for Infantile Spasms ?,0000162-4,research,"The NINDS supports broad and varied programs of research on epilepsy and other seizure disorders. This research is aimed at discovering new ways to prevent, diagnose, and treat these disorders and, ultimately, to find cures for them. Hopefully, more effective and safer treatments, such as neuroprotective agents, will be developed to treat IS and West Syndrome.",Infantile Spasms,0000162,NINDS,http://www.ninds.nih.gov/disorders/infantilespasms/infantilespasms.htm,C0037769,T047,Disorders What is (are) Inflammatory Myopathies ?,0000163-1,information,"The inflammatory myopathies are a group of diseases, with no known cause, that involve chronic muscle inflammation accompanied by muscle weakness. The three main types of chronic, or persistent, inflammatory myopathy are polymyositis, dermatomyositis, and inclusion body myositis (IBM). These rare disorders may affect both adults and children, although dermatomyositis is more common in children. Polymyositis and dermatomyositis are more common in women than in men. General symptoms of chronic inflammatory myopathy include slow but progressive muscle weakness that starts in the proximal musclesthose muscles closest to the trunk of the body. Other symptoms include fatigue after walking or standing, tripping or falling, and difficulty swallowing or breathing. Some patients may have slight muscle pain or muscles that are tender to the touch. Polymyositis affects skeletal muscles (involved with making movement) on both sides of the body. Dermatomyositis is characterized by a skin rash that precedes or accompanies progressive muscle weakness. IBM is characterized by progressive muscle weakness and wasting. Juvenile myositis has some similarities to adult dermatomyositis and polymyositis.",Inflammatory Myopathies,0000163,NINDS,http://www.ninds.nih.gov/disorders/inflammatory_myopathies/inflammatory_myopathies.htm,C0027121,T047,Disorders What are the treatments for Inflammatory Myopathies ?,0000163-2,treatment,"The chronic inflammatory myopathies cant be cured in most adults but many of the symptoms can be treated. Options include medication, physical therapy, exercise, heat therapy (including microwave and ultrasound), orthotics and assistive devices, and rest. Polymyositis and dermatomyositis are first treated with high doses of prednisone or another corticosteroid drug. This is most often given as an oral medication but can be delivered intravenously. Immunosuppressant drugs, such as azathioprine and methotrexate, may reduce inflammation in people who do not respond well to prednisone. IBM has no standard course of treatment. The disease is generally unresponsive to corticosteroids and immunosuppressive drugs.",Inflammatory Myopathies,0000163,NINDS,http://www.ninds.nih.gov/disorders/inflammatory_myopathies/inflammatory_myopathies.htm,C0027121,T047,Disorders What is the outlook for Inflammatory Myopathies ?,0000163-3,outlook,"Most cases of dermatomyositis respond to therapy. The prognosis for polymyositis varies. Most individuals respond fairly well to therapy, but some people have a more severe disease that does not respond adequately to therapies and are left with significant disability. IBM is generally resistant to all therapies and its rate of progression appears to be unaffected by currently available treatments.",Inflammatory Myopathies,0000163,NINDS,http://www.ninds.nih.gov/disorders/inflammatory_myopathies/inflammatory_myopathies.htm,C0027121,T047,Disorders what research (or clinical trials) is being done for Inflammatory Myopathies ?,0000163-4,research,"The National Institutes of Health (NIH), through the collaborative efforts of its National Institute of Neurological Disorders and Stroke (NINDS), National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), and National Institute of Environmental Health Sciences (NIEHS), conducts and supports a wide range of research on neuromuscular disorders, including the inflammatory myopathies. The NINDS and NIAMS are funding DNA analyses using microarrays to characterize patterns of muscle gene expression among adult and juvenile individuals with distinct subtypes of inflammatory myopathies. Findings will be used to refine disease classification and provide clues to the pathology of these disorders. Other NIH-funded research is studying prior viral infection as a precursor to inflammatory myopathy. Other research hopes to determine whether the drug infliximab, which blocks a protein that is associated with harmful inflammation, is safe and effective in treating dermatomyositis and polymyositis.",Inflammatory Myopathies,0000163,NINDS,http://www.ninds.nih.gov/disorders/inflammatory_myopathies/inflammatory_myopathies.htm,C0027121,T047,Disorders What is (are) Iniencephaly ?,0000164-1,information,"Iniencephaly is a rare birth defect caused by improper closure of the neural tube (the part of a human embryo that becomes the brain and spinal cord) during fetal development. Iniencephaly is in the same family of neural tube defects as spina bifida, but it is more severe. In iniencephaly, the defect results in extreme retroflexion (backward bending) of the head combined with severe distortion of the spine. Diagnosis is made immediately after birth because an infants head is so severely bent backward that the face looks upward. In most infants the neck is absent and the skin of the face is connected directly to the skin of the chest, while the scalp is directly connected to the skin of the back. Most infants with iniencephaly have additional birth defects, such as anencephaly (in which major sections of the brain fail to form), cephalocele (in which part of the cranial contents protrudes from the skull), and cyclopia (in which the two cavities of the eyes fuse into one). Additional birth defects include the lack of a lower jaw bone or a cleft lip and palate. Other parts of the body may be affected, and infants can have cardiovascular disorders, diaphragmatic hernias, and gastrointestinal malformations. For reasons that are still unknown, the disorder is more common among females. No single gene has been identified as the cause for iniencephaly, or any of the neural tube defects. Scientists think these defects have complex causes, mostly likely a mix of genetic and environmental factors.",Iniencephaly,0000164,NINDS,http://www.ninds.nih.gov/disorders/iniencephaly/Iniencephaly.htm,C0152234,T019,Disorders What are the treatments for Iniencephaly ?,0000164-2,treatment,"There is no standard treatment for iniencephaly since most infants rarely live longer than a few hours. Medicine is based more on prevention using supplementation with folic acid. Numerous studies have demonstrated that mothers can reduce the risk of neural tube birth defects such as iniencephaly by up to 70 percent with daily supplements of at least 4 mg of folic acid. Pregnant women should avoid taking antiepileptic drugs, diuretics, antihistamines, and sulfa drugs, which have been shown to be associated with an increased risk of neural tube defects. Maternal obesity and diabetes are also known to increase the risk for these disorders.",Iniencephaly,0000164,NINDS,http://www.ninds.nih.gov/disorders/iniencephaly/Iniencephaly.htm,C0152234,T019,Disorders What is the outlook for Iniencephaly ?,0000164-3,outlook,The prognosis for infants with iniencephaly is extremely poor. Newborns seldom survive much past childbirth. The distortions of the babys body also pose a danger to the mother's life during delivery.,Iniencephaly,0000164,NINDS,http://www.ninds.nih.gov/disorders/iniencephaly/Iniencephaly.htm,C0152234,T019,Disorders what research (or clinical trials) is being done for Iniencephaly ?,0000164-4,research,The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research related to iniencephaly in laboratories at the NIH and also support additional research through grants to major medical institutions across the country. Much of this research explores the complex mechanisms of neural tube development. The knowledge gained from these fundamental studies will provide a foundation for developing ways to prevent iniencephaly and the other neural tube defects.,Iniencephaly,0000164,NINDS,http://www.ninds.nih.gov/disorders/iniencephaly/Iniencephaly.htm,C0152234,T019,Disorders What is (are) Whipple's Disease ?,0000165-1,information,"Whipple's disease is a multi-system infectious bacterial disease that interferes with the body's ability to metabolize fats. Caused by the bacterium Tropheryma whipplei, the disorder can affect any system in the body, including the brain, eyes, heart, joints, and lungs, but usually occurs in the gastrointestinal system. Neurological symptoms occur in up to 40 percent of individuals and may include dementia, abnormalities of eye and facial muscle movements, headaches, seizures, loss of muscle control, memory loss, weakness, and vision problems. Gastrointestinal symptoms may include diarrhea, weight loss, fatigue, weakness, and abdominal bleeding and pain. Fever, cough, anemia, heart and lung damage, darkening of the skin, and joint soreness may also be present. The disease is more common in men and neurological symptoms are more common in individuals who have severe abdominal disease, Rarely, neurological symptoms may appear without gastrointestinal symptoms and can mimic symptoms of almost any neurologic disease..",Whipple's Disease,0000165,NINDS,http://www.ninds.nih.gov/disorders/whipples/whipples.htm,C0023788,T047,Disorders What are the treatments for Whipple's Disease ?,0000165-2,treatment,"The standard treatment for Whipple's disease is a prolonged course of antibiotics (up to two years), including penicillin and cefriaxone or doxycycline with hydroxychloroquine. Sulfa drugs (sulfonamides) such as sulfadizine or solfamethoxazole can treat neurological symptoms. Relapsing neurologic Whipple's disease. (marked by bouts of worsening of symptoms) is sometimes treated with a combination of antibiotics and weekly injections of interfron gamma, a substance made by the body that activates the immune system.",Whipple's Disease,0000165,NINDS,http://www.ninds.nih.gov/disorders/whipples/whipples.htm,C0023788,T047,Disorders What is the outlook for Whipple's Disease ?,0000165-3,outlook,"Generally, long-term antibiotic treatment to destroy the bacteria can relieve symptoms and cure the disease. If left untreated, the disease is progressive and fatal. Individuals with involvement of the central nervous system generally have a worse prognosis and may be left with permanent neurologic disability. Deficits may persist and relapses may still occur in individuals who receive appropriate treatment in a timely fashion. Prognosis may improve with earlier recognition, diagnosis, and treatment of the disorder.",Whipple's Disease,0000165,NINDS,http://www.ninds.nih.gov/disorders/whipples/whipples.htm,C0023788,T047,Disorders what research (or clinical trials) is being done for Whipple's Disease ?,0000165-4,research,"The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge of the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. The NINDS supportsa broad range of research on disorders that affect the central nervous system. The National Institute of Diabetes and Digestive and Kidney Diseases also supports research on disorders such as Whipple's disease. Much of this research is aimed at learning more about these disorders and finding ways to prevent, treat, and, ultimately, cure them.",Whipple's Disease,0000165,NINDS,http://www.ninds.nih.gov/disorders/whipples/whipples.htm,C0023788,T047,Disorders What is (are) Isaacs' Syndrome ?,0000166-1,information,"Issacs' syndrome (also known as neuromyotonia, Isaacs-Mertens syndrome, continuous muscle fiber activity syndrome, and quantal squander syndrome) is a rare neuromuscular disorder caused by hyperexcitability and continuous firing of the peripheral nerve axons that activate muscle fibers. Symptoms, which include progressive muscle stiffness, continuously contracting or twitching muscles (myokymia), cramping, increased sweating, and delayed muscle relaxation, occur even during sleep or when individuals are under general anesthesia. Many people also develop weakened reflexes and muscle pain, but numbness is relatively uncommon. In most people with Issacs' syndrome, stiffness is most prominent in limb and trunk muscles, although symptoms can be limited to cranial muscles. Speech and breathing may be affected if pharyngeal or laryngeal muscles are involved. Onset is between ages 15 and 60, with most individuals experiencing symptoms before age 40. There are hereditary and acquired (occurring from unknown causes) forms of the disorder. The acquired form occasionally develops in association with peripheral neuropathies or after radiation treatment, but more often is caused by an autoimmune condition. Autoimmune-mediated Issacs' syndrome is typically caused by antibodies that bind to potassium channels on the motor nerve. Issacs' syndrome is only one of several neurological conditions that can be caused by potassium channel antibodies.",Isaacs' Syndrome,0000166,NINDS,http://www.ninds.nih.gov/disorders/isaacs_syndrome/isaacs_syndrome.htm,C0242287,T047,Disorders What are the treatments for Isaacs' Syndrome ?,0000166-2,treatment,"Anticonvulsants, including phenytoin and carbamazepine, usually provide significant relief from the stiffness, muscle spasms, and pain associated with Isaacs' syndrome. Plasma exchange may provide short-term relief for individuals with some forms of the acquired disorder.",Isaacs' Syndrome,0000166,NINDS,http://www.ninds.nih.gov/disorders/isaacs_syndrome/isaacs_syndrome.htm,C0242287,T047,Disorders What is the outlook for Isaacs' Syndrome ?,0000166-3,outlook,There is no cure for Isaacs' syndrome. The long-term prognosis for individuals with the disorder is uncertain.,Isaacs' Syndrome,0000166,NINDS,http://www.ninds.nih.gov/disorders/isaacs_syndrome/isaacs_syndrome.htm,C0242287,T047,Disorders what research (or clinical trials) is being done for Isaacs' Syndrome ?,0000166-4,research,"The NINDS supports an extensive research program of basic studies to increase understanding of diseases that affect the brain, spinal cord, muscles, and nerves. This research examines the genetics, symptoms, progression, and psychological and behavioral impact of diseases, with the goal of improving ways to diagnose, treat, and, ultimately, cure these disorders.",Isaacs' Syndrome,0000166,NINDS,http://www.ninds.nih.gov/disorders/isaacs_syndrome/isaacs_syndrome.htm,C0242287,T047,Disorders What is (are) Joubert Syndrome ?,0000167-1,information,"Joubert syndrome is a rare brain malformation characterized by the absence or underdevelopment of the cerebellar vermis- an area of the brain that controls balance and coordination -- as well as a malformed brain stem (molar tooth sign). The most common features of Joubert syndrome in infants include abnormally rapid breathing (hyperpnea), decreased muscle tone (hypotonia), abnormal eye movements, impaired intellectual development, and the inability to coordinate voluntary muscle movements (ataxia). Physical deformities may be present, such as extra fingers and toes (polydactyly), cleft lip or palate, and tongue abnormalities. Kidney and liver abnormalities can develop, and seizures may also occur. Many cases of Joubert syndrome appear to be sporadic (not inherited). In most other cases, Joubert syndrome is inherited in an autosomal recessive manner (meaning both parents must have a copy of the mutation) via mutation in at least 10 different genes, including NPHP1, AHI1, and CEP290.",Joubert Syndrome,0000167,NINDS,http://www.ninds.nih.gov/disorders/joubert/joubert.htm,C0431399,T047,Disorders What are the treatments for Joubert Syndrome ?,0000167-2,treatment,"Treatment for Joubert syndrome is symptomatic and supportive. Infant stimulation and physical, occupational, and speech therapy may benefit some children. Infants with abnormal breathing patterns should be monitored. Screening for progressive eye, liver, and kidney complications associated with Joubert-related disorders should be performed on a regular basis.",Joubert Syndrome,0000167,NINDS,http://www.ninds.nih.gov/disorders/joubert/joubert.htm,C0431399,T047,Disorders What is the outlook for Joubert Syndrome ?,0000167-3,outlook,"The prognosis for infants with Joubert syndrome depends on whether or not the cerebellar vermis is partially developed or entirely absent, as well as on the extent and severity of other organ involvement, such as the kidneys and liver. Some children have a mild form of the disorder, with minimal motor disability and good mental development, while others may have severe motor disability, moderate impaired mental development, and multi-organ impairments.",Joubert Syndrome,0000167,NINDS,http://www.ninds.nih.gov/disorders/joubert/joubert.htm,C0431399,T047,Disorders what research (or clinical trials) is being done for Joubert Syndrome ?,0000167-4,research,"The NINDS supports research on the development of the nervous system and the cerebellum. This research is critical for increasing our understanding of Joubert syndrome, and for developing methods of treatment and prevention. NINDS, in conjunction with the NIH Office of Rare Disorders, sponsored a symposium on Joubert syndrome in 2002. Research priorities for the disorder were outlined at this meeting.",Joubert Syndrome,0000167,NINDS,http://www.ninds.nih.gov/disorders/joubert/joubert.htm,C0431399,T047,Disorders What is (are) Kearns-Sayre Syndrome ?,0000168-1,information,"Kearns-Sayre syndrome (KSS) is a rare neuromuscular disorder with onset usually before the age of 20 years. It is the result of abnormalities in the DNA of mitochondria - small rod-like structures found in every cell of the body that produce the energy that drives cellular functions. The mitochondrial diseases correlate with specific DNA mutations that cause problems with many of the organs and tissues in the body. KSS is characterized by progressive limitation of eye movements until there is complete immobility, accompanied by eyelid droop. It is also associated with abnormal accumulation of pigmented material on the membrane lining the eyes. Additional symptoms may include mild skeletal muscle weakness, heart block (a cardiac conduction defect), short stature, hearing loss, an inability to coordinate voluntary movements (ataxia), impaired cognitive function, and diabetes. Seizures are infrequent. Several endocrine disorders can be associated with KSS.",Kearns-Sayre Syndrome,0000168,NINDS,http://www.ninds.nih.gov/disorders/kearns_sayre/kearns_sayre.htm,C0022541,T047,Disorders What are the treatments for Kearns-Sayre Syndrome ?,0000168-2,treatment,"There is currently no effective way to treat mitochondria abnormalities in KSS. Treatment is generally symptomatic and supportive. Management of KSS involves multiple specialties depending on the organs involved. The most essential is a regular and long-term follow-up with cardiologists. Conduction problems of heart impulse like heart block may be treated with a pacemaker. Other consultations may include audiology, ophthalmology, endocrinology, neurology, and neuropsychiatry. Hearing aids may be required. There is typically no treatment for limitation in eye movement. Endocrinology abnormalities can be treated with drugs.",Kearns-Sayre Syndrome,0000168,NINDS,http://www.ninds.nih.gov/disorders/kearns_sayre/kearns_sayre.htm,C0022541,T047,Disorders What is the outlook for Kearns-Sayre Syndrome ?,0000168-3,outlook,KSS is a slowly progressive disorder. The prognosis for individuals with KSS varies depending on the severity and the number of organs involved. Early diagnosis and periodic electrocardiogram (ECG) are important since heart block can cause death in 20 percent of patients. Early pacemaker implantation can be of great benefit and offer a longer life expectancy in many patients.,Kearns-Sayre Syndrome,0000168,NINDS,http://www.ninds.nih.gov/disorders/kearns_sayre/kearns_sayre.htm,C0022541,T047,Disorders what research (or clinical trials) is being done for Kearns-Sayre Syndrome ?,0000168-4,research,"The NINDS supports research on neuromuscular disorders such as KSS. The goals of this research are to increase understanding of these disorders, and to find ways to prevent, treat, and, ultimately, cure them. The most promising approach for treatment in the future will be to alter replication or destroy abnormal mitochondria.",Kearns-Sayre Syndrome,0000168,NINDS,http://www.ninds.nih.gov/disorders/kearns_sayre/kearns_sayre.htm,C0022541,T047,Disorders What is (are) Kleine-Levin Syndrome ?,0000169-1,information,"Kleine-Levin syndrome is a rare disorder that primarily affects adolescent males (approximately 70 percent of those with Kleine-Levin syndrome are male). It is characterized by recurring but reversible periods of excessive sleep (up to 20 hours per day). Symptoms occur as ""episodes,"" typically lasting a few days to a few weeks. Episode onset is often abrupt, and may be associated with flu-like symptoms. Excessive food intake, irritability, childishness, disorientation, hallucinations, and an abnormally uninhibited sex drive may be observed during episodes. Mood can be depressed as a consequence, but not a cause, of the disorder. Affected individuals are completely normal between episodes, although they may not be able to remember afterwards everything that happened during the episode. It may be weeks or more before symptoms reappear. Symptoms may be related to malfunction of the hypothalamus and thalamus, parts of the brain that govern appetite and sleep.",Kleine-Levin Syndrome,0000169,NINDS,http://www.ninds.nih.gov/disorders/kleine_levin/kleine_levin.htm,C0039082,T047,Disorders What are the treatments for Kleine-Levin Syndrome ?,0000169-2,treatment,"There is no definitive treatment for Kleine-Levin syndrome and watchful waiting at home, rather than pharmacotherapy, is most often advised. Stimulant pills, including amphetamines, methylphenidate, and modafinil, are used to treat sleepiness but may increase irritability and will not improve cognitive abnormalities. Because of similarities between Kleine-Levin syndrome and certain mood disorders, lithium and carbamazepine may be prescribed and, in some cases, have been shown to prevent further episodes. This disorder should be differentiated from cyclic re-occurrence of sleepiness during the premenstrual period in teen-aged girls, which may be controlled with birth control pills. It also should be differentiated from encephalopathy, recurrent depression, or psychosis.",Kleine-Levin Syndrome,0000169,NINDS,http://www.ninds.nih.gov/disorders/kleine_levin/kleine_levin.htm,C0039082,T047,Disorders What is the outlook for Kleine-Levin Syndrome ?,0000169-3,outlook,Episodes eventually decrease in frequency and intensity over the course of eight to 12 years.,Kleine-Levin Syndrome,0000169,NINDS,http://www.ninds.nih.gov/disorders/kleine_levin/kleine_levin.htm,C0039082,T047,Disorders what research (or clinical trials) is being done for Kleine-Levin Syndrome ?,0000169-4,research,NINDS supports a broad range of clinical and basic research on diseases causing sleep disorders in an effort to clarify the mechanisms of these conditions and to develop better treatments for them.,Kleine-Levin Syndrome,0000169,NINDS,http://www.ninds.nih.gov/disorders/kleine_levin/kleine_levin.htm,C0039082,T047,Disorders What is (are) Klippel Feil Syndrome ?,0000170-1,information,"Klippel-Feil Syndrome is a rare disorder characterized by the congenital fusion of two or more cervical (neck) vertebrae. It is caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development. The most common signs of the disorder are short neck, low hairline at the back of the head, and restricted mobility of the upper spine. The fused vertebrae can cause nerve damage and pain in the head, neck, or back. Associated abnormalities may include scoliosis (curvature of the spine), spina bifida (a birth defect of the spine), cleft palate, respiratory problems, and heart malformations. Other features may include joint pain; anomalies of the head and face, skeleton, sex organs, muscles, brain and spinal cord, arms, legs, and fingers; and difficulties hearing. Most cases are sporadic (happen on their own) but mutations in the GDF6 (growth differentiation factor 6) or GDF3 (growth differentiation factor 3) genes can cause the disorder. These genes make proteins that are involved in bone development and segmentation of the vertebrae.",Klippel Feil Syndrome,0000170,NINDS,http://www.ninds.nih.gov/disorders/klippel_feil/klippel_feil.htm,C0022738,T019,Disorders What are the treatments for Klippel Feil Syndrome ?,0000170-2,treatment,"Treatment for Klippel-Feil Syndrome is symptomatic and may include surgery to relieve cervical or craniocervical instability and constriction of the spinal cord, and to correct scoliosis. Physical therapy may also be useful.",Klippel Feil Syndrome,0000170,NINDS,http://www.ninds.nih.gov/disorders/klippel_feil/klippel_feil.htm,C0022738,T019,Disorders What is the outlook for Klippel Feil Syndrome ?,0000170-3,outlook,The prognosis for most individuals with Klippel-Feil Syndrome is good if the disorder is treated early and appropriately. Activities that can injure the neck should be avoided.,Klippel Feil Syndrome,0000170,NINDS,http://www.ninds.nih.gov/disorders/klippel_feil/klippel_feil.htm,C0022738,T019,Disorders what research (or clinical trials) is being done for Klippel Feil Syndrome ?,0000170-4,research,"The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge abuot the brain and nervous system, and to use that knowledge to reduce the burden of neurological disease. Research supported by the NINDS includes studies to understand how the brain and nervous system normally develop and function and how they are affected by disease and trauma. These studies contribute to a greater understanding of birth defects such as Klippel-Feil Syndrome and open promising new avenues for treatment.",Klippel Feil Syndrome,0000170,NINDS,http://www.ninds.nih.gov/disorders/klippel_feil/klippel_feil.htm,C0022738,T019,Disorders What is (are) Klippel-Trenaunay Syndrome (KTS) ?,0000171-1,information,"Klippel-Trenaunay syndrome (KTS) is a rare congenital malformation involving blood and lymph vessels and abnormal growth of soft and bone tissue. Typical symptoms include hemangiomas (abnormal benign growths on the skin consisting of masses of blood vessels) and varicose veins. Fused toes or fingers, or extra toes or fingers, may be present. In some cases, internal bleeding may occur as a result of blood vessel malformations involving organs such as the stomach, rectum, vagina, liver, spleen, bladder, kidneys, lungs, or heart. Individuals are also at risk for blood clots. The cause of the disorder is unknown. A similar port-wine stain disorder in which individuals have vascular anomalies on the face as well as in the brain is Sturge-Weber syndrome. These individuals may experience seizures and mental deficiency. In some cases, features of the Klippel-Trenaunay syndrome and Sturge-Weber syndrome coincide. Another overlapping condition is the Parkes-Weber syndrome, which is characterized by abnormal connectivity between the arterial and venous system (arteriovenous fistulas).",Klippel-Trenaunay Syndrome (KTS),0000171,NINDS,http://www.ninds.nih.gov/disorders/klippel_trenaunay/klippel_trenaunay.htm,C0039082,T047,Disorders What are the treatments for Klippel-Trenaunay Syndrome (KTS) ?,0000171-2,treatment,"There is no cure for KTS. Treatment is symptomatic. Laser surgery can diminish or erase some skin lesions. Surgery may correct discrepancies in limb size, but orthopedic devices may be more appropriate.",Klippel-Trenaunay Syndrome (KTS),0000171,NINDS,http://www.ninds.nih.gov/disorders/klippel_trenaunay/klippel_trenaunay.htm,C0039082,T047,Disorders What is the outlook for Klippel-Trenaunay Syndrome (KTS) ?,0000171-3,outlook,"KTS is often a progressive disorder, and complications may be life-threatening. However, many individuals can live well while managing their symptoms.",Klippel-Trenaunay Syndrome (KTS),0000171,NINDS,http://www.ninds.nih.gov/disorders/klippel_trenaunay/klippel_trenaunay.htm,C0039082,T047,Disorders what research (or clinical trials) is being done for Klippel-Trenaunay Syndrome (KTS) ?,0000171-4,research,The NINDS supports research on congenital disorders such as KTS with the goal of finding new means to treat and prevent them.,Klippel-Trenaunay Syndrome (KTS),0000171,NINDS,http://www.ninds.nih.gov/disorders/klippel_trenaunay/klippel_trenaunay.htm,C0039082,T047,Disorders What is (are) Klver-Bucy Syndrome ?,0000172-1,information,"Klver-Bucy syndrome is a rare behavioral impairment that is associated with damage to both of the anterior temporal lobes of the brain. It causes individuals to put objects in their mouths and engage in inappropriate sexual behavior. Other symptoms may include visual agnosia (inability to visually recognize objects), loss of normal fear and anger responses, memory loss, distractibility, seizures, and dementia. The disorder may be associated with herpes encephalitis and trauma, which can result in brain damage.",Klver-Bucy Syndrome,0000172,NINDS,http://www.ninds.nih.gov/disorders/kluver_bucy/kluver_bucy.htm,C0039082,T047,Disorders What are the treatments for Klver-Bucy Syndrome ?,0000172-2,treatment,"Treatment is symptomatic and supportive, and may include drug therapy.",Klver-Bucy Syndrome,0000172,NINDS,http://www.ninds.nih.gov/disorders/kluver_bucy/kluver_bucy.htm,C0039082,T047,Disorders What is the outlook for Klver-Bucy Syndrome ?,0000172-3,outlook,"There is no cure for Klver-Bucy syndrome. The disorder is not life-threatening, but the patient can be difficult to manage. With treatment, symptoms may slowly decline.",Klver-Bucy Syndrome,0000172,NINDS,http://www.ninds.nih.gov/disorders/kluver_bucy/kluver_bucy.htm,C0039082,T047,Disorders what research (or clinical trials) is being done for Klver-Bucy Syndrome ?,0000172-4,research,NINDS supports and conducts research on neurobehavioral disorders such as Klver-Bucy syndrome. Much of the research focuses on learning more about these disorders and finding ways to prevent and treat them.,Klver-Bucy Syndrome,0000172,NINDS,http://www.ninds.nih.gov/disorders/kluver_bucy/kluver_bucy.htm,C0039082,T047,Disorders What is (are) Spinal Muscular Atrophy ?,0000173-1,information,"Spinal Muscular Atrophy (SMA) Types I, II, and III belong to a group of hereditary diseases that cause weakness and wasting of the voluntary muscles in the arms and legs of infants and children. The disorders are caused by an abnormal or missing gene known as the survival motor neuron gene 1 (SMN1), which is responsible for the production of a protein essential to motor neurons. Without this protein, lower motor neurons in the spinal cord degenerate and die. The type of SMA (I, II, or III) is determined by the age of onset and the severity of symptoms. Type I (also known as Werdnig-Hoffman disease, or infantile-onset SMA) is evident at birth or within the first few months. Symptoms include floppy limbs and trunk, feeble movements of the arms and legs, swallowing and feeding difficulties, and impaired breathing. Type II (the intermediate form) usually begins 6 and 18 months of age. Legs tend to be more impaired than arms. Children with Type II may able to sit and some may be able to stand or walk with help. Symptoms of Type III (also called Kugelberg-Welander disease) appear between 2 and 17 years of age and include difficulty running, climbing steps, or rising from a chair. The lower extremities are most often affected. Complications include scoliosis and chronic shortening of muscles or tendons around joints.",Spinal Muscular Atrophy,0000173,NINDS,http://www.ninds.nih.gov/disorders/sma/sma.htm,C0026847,T047,Disorders What are the treatments for Spinal Muscular Atrophy ?,0000173-2,treatment,There is no cure for SMA. Treatment consists of managing the symptoms and preventing complications.,Spinal Muscular Atrophy,0000173,NINDS,http://www.ninds.nih.gov/disorders/sma/sma.htm,C0026847,T047,Disorders What is the outlook for Spinal Muscular Atrophy ?,0000173-3,outlook,"The prognosis is poor for babies with SMA Type I. Most die within the first two years. For children with SMA Type II, the prognosis for life expectancy or for independent standing or walking roughly correlates with how old they are when they first begin to experience symptoms - older children tend to have less severe symptoms Life expectancy is reduced but some individuals live into adolescence or young adulthood. Individuals with SMA type III may be prone to respiratory infections but with care may have a normal lifespan.",Spinal Muscular Atrophy,0000173,NINDS,http://www.ninds.nih.gov/disorders/sma/sma.htm,C0026847,T047,Disorders what research (or clinical trials) is being done for Spinal Muscular Atrophy ?,0000173-4,research,"Between 2003 and 2012, the NINDS piloted the Spinal Muscular Atrophy Project to expedite therapeutics development for this hereditary neurodegenerative disease. The Project was designed to accelerate the research process by identifying drugs that increase the level of SMN protein in cultured cells, so that they could be used as potential leads for further drug discovery and clinical testing. Read more about the history of this pioneering effort and how it led to collaboration with several pharmaceutical and biotechnology companies.",Spinal Muscular Atrophy,0000173,NINDS,http://www.ninds.nih.gov/disorders/sma/sma.htm,C0026847,T047,Disorders What is (are) Kuru ?,0000174-1,information,"Kuru is a rare and fatal brain disorder that occurred at epidemic levels during the 1950s-60s among the Fore people in the highlands of New Guinea. The disease was the result of the practice of ritualistic cannibalism among the Fore, in which relatives prepared and consumed the tissues (including brain) of deceased family members. Brain tissue from individuals with kuru was highly infectious, and the disease was transmitted either through eating or by contact with open sores or wounds. Government discouragement of the practice of cannibalism led to a continuing decline in the disease, which has now mostly disappeared. Kuru belongs to a class of infectious diseases called transmissible spongiform encephalopathies (TSEs), also known as prion diseases. The hallmark of a TSE disease is misshapen protein molecules that clump together and accumulate in brain tissue. Scientists believe that misshapen prion proteins have the ability to change their shape and cause other proteins of the same type to also change shape. Other TSEs include Creutzfeldt-Jakob disease and fatal familial insomnia in humans, bovine spongiform encephalopathy in cattle (also known as mad cow disease), scrapie in sheep and goats, and chronic wasting disease in deer and elk.",Kuru,0000174,NINDS,http://www.ninds.nih.gov/disorders/kuru/kuru.htm,C0022802,T047,Disorders What are the treatments for Kuru ?,0000174-2,treatment,"There were no treatments that could control or cure kuru, other than discouraging the practice of cannibalism. Currently, there are no cures or treatments for any of the other TSE diseases.",Kuru,0000174,NINDS,http://www.ninds.nih.gov/disorders/kuru/kuru.htm,C0022802,T047,Disorders What is the outlook for Kuru ?,0000174-3,outlook,"Similar to other the TSEs, kuru had a long incubation period; it was years or even decades before an infected person showed symptoms. Because kuru mainly affected the cerebellum, which is responsible for coordination, the usual first symptoms were an unsteady gait, tremors, and slurred speech. (Kuru is the Fore word for shiver.) Unlike most of the other TSEs, dementia was either minimal or absent. Mood changes were often present. Eventually, individuals became unable to stand or eat, and they died in a comatose state from 6 to 12 months after the first appearance of symptoms.",Kuru,0000174,NINDS,http://www.ninds.nih.gov/disorders/kuru/kuru.htm,C0022802,T047,Disorders what research (or clinical trials) is being done for Kuru ?,0000174-4,research,"The NINDS funds research to better understand the genetic, molecular, and cellular mechanisms that underlie the TSE diseases. Findings from this research will lead to ways to diagnose, treat, prevent, and ultimately cure these diseases.",Kuru,0000174,NINDS,http://www.ninds.nih.gov/disorders/kuru/kuru.htm,C0022802,T047,Disorders What is (are) Lambert-Eaton Myasthenic Syndrome ?,0000175-1,information,"Lambert-Eaton myasthenic syndrome (LEMS) is a disorder of the neuromuscular junction-the site where nerve cells meet muscle cells and help activate the muscles. It is caused by a disruption of electrical impulses between these nerve and muscle cells. LEMS is an autoimmune condition; in such disorders the immune system, which normally protects the body from foreign organisms, mistakenly attacks the body's own tissues. The disruption of electrical impulses is associated with antibodies produced as a consequence of this autoimmunity. Symptoms include muscle weakness, a tingling sensation in the affected areas, fatigue, and dry mouth. LEMS is closely associated with cancer, in particular small cell lung cancer. More than half the individuals diagnosed with LEMS also develop small cell lung cancer. LEMS may appear up to 3 years before cancer is diagnosed.",Lambert-Eaton Myasthenic Syndrome,0000175,NINDS,http://www.ninds.nih.gov/disorders/lambert_eaton/lambert_eaton.htm,C0022972,T047,Disorders What are the treatments for Lambert-Eaton Myasthenic Syndrome ?,0000175-2,treatment,"There is no cure for LEMS. Treatment is directed at decreasing the autoimmune response (through the use of steroids, plasmapheresis, or high-dose intravenous immunoglobulin) or improving the transmission of the disrupted electrical impulses by giving drugs such as di-amino pyridine or pyridostigmine bromide (Mestinon). For patients with small cell lung cancer, treatment of the cancer is the first priority.",Lambert-Eaton Myasthenic Syndrome,0000175,NINDS,http://www.ninds.nih.gov/disorders/lambert_eaton/lambert_eaton.htm,C0022972,T047,Disorders What is the outlook for Lambert-Eaton Myasthenic Syndrome ?,0000175-3,outlook,The prognosis for individuals with LEMS varies. Those with LEMS not associated with malignancy have a benign overall prognosis. Generally the presence of cancer determines the prognosis.,Lambert-Eaton Myasthenic Syndrome,0000175,NINDS,http://www.ninds.nih.gov/disorders/lambert_eaton/lambert_eaton.htm,C0022972,T047,Disorders what research (or clinical trials) is being done for Lambert-Eaton Myasthenic Syndrome ?,0000175-4,research,"The NINDS supports research on neuromuscular disorders such as LEMS with the ultimate goal of finding ways to treat, prevent, and cure them.",Lambert-Eaton Myasthenic Syndrome,0000175,NINDS,http://www.ninds.nih.gov/disorders/lambert_eaton/lambert_eaton.htm,C0022972,T047,Disorders What is (are) Wallenberg's Syndrome ?,0000176-1,information,"Wallenbergs syndrome is a neurological condition caused by a stroke in the vertebral or posterior inferior cerebellar artery of the brain stem. Symptoms include difficulties with swallowing, hoarseness, dizziness, nausea and vomiting, rapid involuntary movements of the eyes (nystagmus), and problems with balance and gait coordination. Some individuals will experience a lack of pain and temperature sensation on only one side of the face, or a pattern of symptoms on opposite sides of the body such as paralysis or numbness in the right side of the face, with weak or numb limbs on the left side. Uncontrollable hiccups may also occur, and some individuals will lose their sense of taste on one side of the tongue, while preserving taste sensations on the other side. Some people with Wallenbergs syndrome report that the world seems to be tilted in an unsettling way, which makes it difficult to keep their balance when they walk.",Wallenberg's Syndrome,0000176,NINDS,http://www.ninds.nih.gov/disorders/wallenbergs/wallenbergs.htm,C0043019,T047,Disorders What are the treatments for Wallenberg's Syndrome ?,0000176-2,treatment,"Treatment for Wallenberg's syndrome is symptomatic. A feeding tube may be necessary if swallowing is very difficult. Speech/swallowing therapy may be beneficial. In some cases, medication may be used to reduce or eliminate pain. Some doctors report that the anti-epileptic drug gabapentin appears to be an effective medication for individuals with chronic pain.",Wallenberg's Syndrome,0000176,NINDS,http://www.ninds.nih.gov/disorders/wallenbergs/wallenbergs.htm,C0043019,T047,Disorders What is the outlook for Wallenberg's Syndrome ?,0000176-3,outlook,The outlook for someone with Wallenbergs syndrome depends upon the size and location of the area of the brain stem damaged by the stroke. Some individuals may see a decrease in their symptoms within weeks or months. Others may be left with significant neurological disabilities for years after the initial symptoms appeared.,Wallenberg's Syndrome,0000176,NINDS,http://www.ninds.nih.gov/disorders/wallenbergs/wallenbergs.htm,C0043019,T047,Disorders what research (or clinical trials) is being done for Wallenberg's Syndrome ?,0000176-4,research,"The National Institute of Neurological Disorders and Stroke (NINDS) conducts research related to Wallenbergs syndrome in its laboratories at the National Institutes of Health (NIH), and also supports additional research through grants to major medical institutions across the country. Much of this research focuses on finding better ways to prevent, treat, and ultimately cure disorders such as Wallenbergs syndrome.",Wallenberg's Syndrome,0000176,NINDS,http://www.ninds.nih.gov/disorders/wallenbergs/wallenbergs.htm,C0043019,T047,Disorders What is (are) Learning Disabilities ?,0000177-1,information,"Learning disabilities are disorders that affect the ability to understand or use spoken or written language, do mathematical calculations, coordinate movements, or direct attention. Although learning disabilities occur in very young children, the disorders are usually not recognized until the child reaches school age. Research shows that 8 to 10 percent of American children under 18 years of age have some type of learning disability.",Learning Disabilities,0000177,NINDS,http://www.ninds.nih.gov/disorders/learningdisabilities/learningdisabilities.htm,C0231170,T048,Disorders What are the treatments for Learning Disabilities ?,0000177-2,treatment,"The most common treatment for learning disabilities is special education. Specially trained educators may perform a diagnostic educational evaluation assessing the child's academic and intellectual potential and level of academic performance. Once the evaluation is complete, the basic approach is to teach learning skills by building on the child's abilities and strengths while correcting and compensating for disabilities and weaknesses. Other professionals such as speech and language therapists also may be involved. Some medications may be effective in helping the child learn by enhancing attention and concentration. Psychological therapies may also be used.",Learning Disabilities,0000177,NINDS,http://www.ninds.nih.gov/disorders/learningdisabilities/learningdisabilities.htm,C0231170,T048,Disorders What is the outlook for Learning Disabilities ?,0000177-3,outlook,"Learning disabilities can be lifelong conditions. In some people, several overlapping learning disabilities may be apparent. Other people may have a single, isolated learning problem that has little impact on their lives.",Learning Disabilities,0000177,NINDS,http://www.ninds.nih.gov/disorders/learningdisabilities/learningdisabilities.htm,C0231170,T048,Disorders what research (or clinical trials) is being done for Learning Disabilities ?,0000177-4,research,The National Institute of Neurological Disorders and Stroke (NINDS) and other Institutes of the National Institutes of Health (NIH) support research learning disabilities through grants to major research institutions across the country. Current research avenues focus on developing techniques to diagnose and treat learning disabilities and increase understanding of their biological basis.,Learning Disabilities,0000177,NINDS,http://www.ninds.nih.gov/disorders/learningdisabilities/learningdisabilities.htm,C0231170,T048,Disorders What is (are) Leigh's Disease ?,0000178-1,information,"Leigh's disease is a rare inherited neurometabolic disorder that affects the central nervous system. This progressive disorder begins in infants between the ages of three months and two years.Rarely, it occurs in teenagers and adults.Leigh's disease can be caused by mutations in mitochondrial DNA or by deficiencies of an enzyme called pyruvate dehydrogenase. Symptoms of Leigh's disease usually progress rapidly. The earliest signs may be poor sucking ability,and the loss of head control and motor skills.These symptoms may be accompanied by loss of appetite, vomiting, irritability, continuous crying, and seizures. As the disorder progresses, symptoms may also include generalized weakness, lack of muscle tone, and episodes of lactic acidosis, which can lead to impairment of respiratory and kidney function. In Leighs disease, genetic mutations in mitochondrial DNA interfere with the energy sources that run cells in an area of the brain that plays a role in motor movements.The primary function of mitochondria is to convert the energy in glucose and fatty acids into a substance called adenosine triphosphate ( ATP). The energy in ATP drives virtually all of a cell's metabolic functions. Genetic mutations in mitochondrial DNA, therefore, result in a chronic lack of energy in these cells, which in turn affects the central nervous system and causes progressive degeneration of motor functions. There is also a form of Leighs disease (called X-linked Leigh's disease) which is the result of mutations in a gene that produces another group of substances that are important for cell metabolism. This gene is only found on the X chromosome.",Leigh's Disease,0000178,NINDS,http://www.ninds.nih.gov/disorders/leighsdisease/leighsdisease.htm,C0023264,T047,Disorders What are the treatments for Leigh's Disease ?,0000178-2,treatment,"The most common treatment for Leigh's disease is thiamine or Vitamin B1. Oral sodium bicarbonate or sodium citrate may also be prescribed to manage lactic acidosis. Researchers are currently testing dichloroacetate to establish its effectiveness in treating lactic acidosis. In individuals who have the X-linked form of Leighs disease, a high-fat, low-carbohydrate diet may be recommended.",Leigh's Disease,0000178,NINDS,http://www.ninds.nih.gov/disorders/leighsdisease/leighsdisease.htm,C0023264,T047,Disorders What is the outlook for Leigh's Disease ?,0000178-3,outlook,"The prognosis for individuals with Leigh's disease is poor. Individuals who lack mitochondrial complex IV activity and those with pyruvate dehydrogenase deficiency tend to have the worst prognosis and die within a few years. Those with partial deficiencies have a better prognosis, and may live to be 6 or 7 years of age. Some have survived to their mid-teenage years.",Leigh's Disease,0000178,NINDS,http://www.ninds.nih.gov/disorders/leighsdisease/leighsdisease.htm,C0023264,T047,Disorders what research (or clinical trials) is being done for Leigh's Disease ?,0000178-4,research,"The NINDS supports and encourages a broad range of basic and clinical research on neurogenetic disorders such as Leigh's disease. The goal of this research is to understand what causes these disorders and then to apply these findings to new ways to diagnose, treat, and prevent them.",Leigh's Disease,0000178,NINDS,http://www.ninds.nih.gov/disorders/leighsdisease/leighsdisease.htm,C0023264,T047,Disorders What is (are) Lennox-Gastaut Syndrome ?,0000179-1,information,"Lennox-Gastaut syndrome is a severe form of epilepsy. Seizures usually begin before 4 years of age. Seizure types, which vary among patients, include tonic (stiffening of the body, upward deviation of the eyes, dilation of the pupils, and altered respiratory patterns), atonic (brief loss of muscle tone and consciousness, causing abrupt falls), atypical absence (staring spells), and myoclonic (sudden muscle jerks). There may be periods of frequent seizures mixed with brief, relatively seizure-free periods. Most children with Lennox-Gastaut syndrome experience some degree of impaired intellectual functioning or information processing, along with developmental delays, and behavioral disturbances. Lennox-Gastaut syndrome can be caused by brain malformations, perinatal asphyxia, severe head injury, central nervous system infection and inherited degenerative or metabolic conditions. In 30-35 percent of cases, no cause can be found.",Lennox-Gastaut Syndrome,0000179,NINDS,http://www.ninds.nih.gov/disorders/lennoxgastautsyndrome/lennoxgastautsyndrome.htm,C0238111,T047,Disorders What are the treatments for Lennox-Gastaut Syndrome ?,0000179-2,treatment,"Treatment for Lennox-Gastaut syndrome includes clobazam and anti-epileptic medications such as valproate, lamotrigine, felbamate, or topiramate. There is usually no single antiepileptic medication that will control seizures. Children who improve initially may later show tolerance to a drug or have uncontrollable seizures.",Lennox-Gastaut Syndrome,0000179,NINDS,http://www.ninds.nih.gov/disorders/lennoxgastautsyndrome/lennoxgastautsyndrome.htm,C0238111,T047,Disorders What is the outlook for Lennox-Gastaut Syndrome ?,0000179-3,outlook,"The prognosis for individuals with Lennox-Gastaut syndrome varies. There is no cure for the disorder. Complete recovery, including freedom from seizures and normal development, is very unusual.",Lennox-Gastaut Syndrome,0000179,NINDS,http://www.ninds.nih.gov/disorders/lennoxgastautsyndrome/lennoxgastautsyndrome.htm,C0238111,T047,Disorders what research (or clinical trials) is being done for Lennox-Gastaut Syndrome ?,0000179-4,research,"The NINDS conducts and supports a broad program of basic and clinical research on epilepsy including Lennox-Gastaut syndrome. These studies are aimed at finding the causes of these disorders, improving the diagnosis, and developing new medications and other therapies.",Lennox-Gastaut Syndrome,0000179,NINDS,http://www.ninds.nih.gov/disorders/lennoxgastautsyndrome/lennoxgastautsyndrome.htm,C0238111,T047,Disorders What is (are) Lesch-Nyhan Syndrome ?,0000180-1,information,"Lesch-Nyhan syndrome (LNS) is a rare, inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). LNS is an X-linked recessive disease-- the gene is carried by the mother and passed on to her son. LNS is present at birth in baby boys. The lack of HPRT causes a build-up of uric acid in all body fluids, and leads to symptoms such as severe gout, poor muscle control, and moderate retardation, which appear in the first year of life. A striking feature of LNS is self-mutilating behaviors characterized by lip and finger biting that begin in the second year of life. Abnormally high uric acid levels can cause sodium urate crystals to form in the joints, kidneys, central nervous system, and other tissues of the body, leading to gout-like swelling in the joints and severe kidney problems. Neurological symptoms include facial grimacing, involuntary writhing, and repetitive movements of the arms and legs similar to those seen in Huntingtons disease. Because a lack of HPRT causes the body to poorly utilize vitamin B12, some boys may develop a rare disorder called megaloblastic anemia.",Lesch-Nyhan Syndrome,0000180,NINDS,http://www.ninds.nih.gov/disorders/lesch_nyhan/lesch_nyhan.htm,C0023374,T047,Disorders What are the treatments for Lesch-Nyhan Syndrome ?,0000180-2,treatment,"Treatment for LNS is symptomatic. Gout can be treated with allopurinol to control excessive amounts of uric acid. Kidney stones may be treated with lithotripsy, a technique for breaking up kidney stones using shock waves or laser beams. There is no standard treatment for the neurological symptoms of LNS. Some may be relieved with the drugs carbidopa/levodopa, diazepam, phenobarbital, or haloperidol.",Lesch-Nyhan Syndrome,0000180,NINDS,http://www.ninds.nih.gov/disorders/lesch_nyhan/lesch_nyhan.htm,C0023374,T047,Disorders What is the outlook for Lesch-Nyhan Syndrome ?,0000180-3,outlook,The prognosis for individuals with LNS is poor. Death is usually due to renal failure in the first or second decade of life.,Lesch-Nyhan Syndrome,0000180,NINDS,http://www.ninds.nih.gov/disorders/lesch_nyhan/lesch_nyhan.htm,C0023374,T047,Disorders what research (or clinical trials) is being done for Lesch-Nyhan Syndrome ?,0000180-4,research,The gene associated with LNS is known. The NINDS supports and conducts research on genetic disorders such as LNS in an effort to find ways to prevent and treat these disorders.,Lesch-Nyhan Syndrome,0000180,NINDS,http://www.ninds.nih.gov/disorders/lesch_nyhan/lesch_nyhan.htm,C0023374,T047,Disorders What is (are) Leukodystrophy ?,0000181-1,information,"Leukodystrophy refers to progressive degeneration of the white matter of the brain due to imperfect growth or development of the myelin sheath, the fatty covering that acts as an insulator around nerve fiber. Myelin, which lends its color to the white matter of the brain, is a complex substance made up of at least ten different chemicals. The leukodystrophies are a group of disorders that are caused by genetic defects in how myelin produces or metabolizes these chemicals. Each of the leukodystrophies is the result of a defect in the gene that controls one (and only one) of the chemicals. Specific leukodystrophies include metachromatic leukodystrophy, Krabb disease, adrenoleukodystrophy, Pelizaeus-Merzbacher disease, Canavan disease, Childhood Ataxia with Central Nervous System Hypomyelination or CACH (also known as Vanishing White Matter Disease), Alexander disease, Refsum disease, and cerebrotendinous xanthomatosis. The most common symptom of a leukodystrophy disease is a gradual decline in an infant or child who previously appeared well. Progressive loss may appear in body tone, movements, gait, speech, ability to eat, vision, hearing, and behavior. There is often a slowdown in mental and physical development. Symptoms vary according to the specific type of leukodystrophy, and may be difficult to recognize in the early stages of the disease.",Leukodystrophy,0000181,NINDS,http://www.ninds.nih.gov/disorders/leukodystrophy/leukodystrophy.htm,C0023520,T047,Disorders What are the treatments for Leukodystrophy ?,0000181-2,treatment,"Treatment for most of the leukodystrophies is symptomatic and supportive, and may include medications, physical, occupational, and speech therapies; and nutritional, educational, and recreational programs. Bone marrow transplantation is showing promise for a few of the leukodystrophies.",Leukodystrophy,0000181,NINDS,http://www.ninds.nih.gov/disorders/leukodystrophy/leukodystrophy.htm,C0023520,T047,Disorders What is the outlook for Leukodystrophy ?,0000181-3,outlook,The prognosis for the leukodystrophies varies according to the specific type of leukodystrophy.,Leukodystrophy,0000181,NINDS,http://www.ninds.nih.gov/disorders/leukodystrophy/leukodystrophy.htm,C0023520,T047,Disorders what research (or clinical trials) is being done for Leukodystrophy ?,0000181-4,research,"The NINDS supports research on genetic disorders, including the leukodystrophies. The goals of this research are to increase scientific understanding of these disorders, and to find ways to prevent, treat, and, ultimately, cure them.",Leukodystrophy,0000181,NINDS,http://www.ninds.nih.gov/disorders/leukodystrophy/leukodystrophy.htm,C0023520,T047,Disorders What is (are) Lipoid Proteinosis ?,0000183-1,information,"Lipoid proteinosis (LP) is a rare disease that affects the skin and the brain. Three distinctive features characterize the disease: a hoarse voice, unusual growths on the skin and mucus membranes, and damage to the temporal lobes or hippocampus of the brain. The symptoms of LP may begin as early as infancy with hoarseness or a weak cry, due to growths on the vocal cords. Skin lesions appear sometime in the next 3 years, leaving acne- or pox-like scars on the face, hands, and mucous membranes. The most characteristic symptom of LP is waxy, yellow, bead-like bumps along the upper and lower edges of the eyelids. Brain damage develops over time and is associated with the development of cognitive abilities and epileptic seizures. Damage to the amygdala, a part of the brain that regulates emotions and perceptions, leads to difficulties in discriminating facial expressions and in making realistic judgments about the trustworthiness of other people. LP is a hereditary disease that equally affects males and females. Nearly a quarter of all reported cases have been in the Afrikaner population of South Africa, but the disease is increasingly being reported from other parts of the world including India. The gene responsible for LP has recently been identified. It performs an unknown function in the skin related to the production of collagen.",Lipoid Proteinosis,0000183,NINDS,http://www.ninds.nih.gov/disorders/lipoid_proteinosis/lipoid_proteinosis.htm,C0023795,T047,Disorders What are the treatments for Lipoid Proteinosis ?,0000183-2,treatment,"There is no cure for LP. Some doctors have had success treating the skin eruptions with oral steroid drugs and oral dimethyl sulphoxide (DMSO). Carbon dioxide laser surgery of thickened vocal cords and eyelid bumps has proved helpful in some studies. Dermabrasion may improve the appearance of the skin lesions. Seizures, if present, may be treated with anticonvulsants.",Lipoid Proteinosis,0000183,NINDS,http://www.ninds.nih.gov/disorders/lipoid_proteinosis/lipoid_proteinosis.htm,C0023795,T047,Disorders What is the outlook for Lipoid Proteinosis ?,0000183-3,outlook,"Lipoid proteinosis has a stable or slowly progressive course. Children with LP may have behavioral or learning difficulties, along with seizures. Obstruction in the throat may require a tracheostomy. Mortality rates in infants and adults are slightly increased because of problems with throat obstructions and upper respiratory tract infections.",Lipoid Proteinosis,0000183,NINDS,http://www.ninds.nih.gov/disorders/lipoid_proteinosis/lipoid_proteinosis.htm,C0023795,T047,Disorders what research (or clinical trials) is being done for Lipoid Proteinosis ?,0000183-4,research,"The National Institute of Neurological Disorders and Stroke (NINDS), and other institutes of the National Institutes of Health (NIH), conduct research related to neurological diseases such as lipoid proteinosis in laboratories at the NIH, and also support additional research through grants to major medical institutions across the country. Much of this research focuses on finding better ways to prevent, treat, and ultimately cure disorders, such as lipoid proteinosis.",Lipoid Proteinosis,0000183,NINDS,http://www.ninds.nih.gov/disorders/lipoid_proteinosis/lipoid_proteinosis.htm,C0023795,T047,Disorders What is (are) Lissencephaly ?,0000184-1,information,"Lissencephaly, which literally means ""smooth brain,"" is a rare, gene-linked brain malformation characterized by the absence of normal convolutions (folds) in the cerebral cortex and an abnormally small head (microcephaly). In the usual condition of lissencephaly, children usually have a normal sized head at birth. In children with reduced head size at birth, the condition microlissencephaly is typically diagnosed. Lissencephaly is caused by defective neuronal migration during embryonic development, the process in which nerve cells move from their place of origin to their permanent location within the cerebral cortex gray matter. Symptoms of the disorder may include unusual facial appearance, difficulty swallowing, failure to thrive, muscle spasms, seizures, and severe psychomotor retardation. Hands, fingers, or toes may be deformed. Lissencephaly may be associated with other diseases including isolated lissencephaly sequence, Miller-Dieker syndrome, and Walker-Warburg syndrome. Sometimes it can be difficult to distinguish between these conditions clinically so consultation with national experts is recommended to help ensure correct diagnosis and possible molecular testing.",Lissencephaly,0000184,NINDS,http://www.ninds.nih.gov/disorders/lissencephaly/lissencephaly.htm,C0266463,T019,Disorders What are the treatments for Lissencephaly ?,0000184-2,treatment,"There is no cure for lissencephaly, but children can show progress in their development over time. Supportive care may be needed to help with comfort, feeding, and nursing needs. Seizures may be particularly problematic but anticonvulsant medications can help. Progressive hydrocephalus (an excessive accumulation of cerebrospinal fluid in the brain) is very rare, seen only in the subtype of Walker-Warburg syndrome, but may require shunting. If feeding becomes difficult, a gastrostomy tube may be considered.",Lissencephaly,0000184,NINDS,http://www.ninds.nih.gov/disorders/lissencephaly/lissencephaly.htm,C0266463,T019,Disorders What is the outlook for Lissencephaly ?,0000184-3,outlook,"The prognosis for children with lissencephaly depends on the degree of brain malformation. Many will die before the age of 10 years. The cause of death is usually aspiration of food or fluids, respiratory disease, or severe seizures. Some will survive, but show no significant development -- usually not beyond a 3- to 5-month-old level. Others may have near-normal development and intelligence. Because of this range, it is important to seek the opinion of specialists in lissencephaly and support from family groups with connection to these specialists.",Lissencephaly,0000184,NINDS,http://www.ninds.nih.gov/disorders/lissencephaly/lissencephaly.htm,C0266463,T019,Disorders what research (or clinical trials) is being done for Lissencephaly ?,0000184-4,research,"The NINDS conducts and supports a wide range of studies that explore the complex systems of normal brain development, including neuronal migration. Recent studies have identified genes that are responsible for lissencephaly. The knowledge gained from these studies provides the foundation for developing treatments and preventive measures for neuronal migration disorders.",Lissencephaly,0000184,NINDS,http://www.ninds.nih.gov/disorders/lissencephaly/lissencephaly.htm,C0266463,T019,Disorders What is (are) Locked-In Syndrome ?,0000185-1,information,"Locked-in syndrome is a rare neurological disorder characterized by complete paralysis of voluntary muscles in all parts of the body except for those that control eye movement. It may result from traumatic brain injury, diseases of the circulatory system, diseases that destroy the myelin sheath surrounding nerve cells, or medication overdose. Individuals with locked-in syndrome are conscious and can think and reason, but are unable to speak or move. The disorder leaves individuals completely mute and paralyzed. Communication may be possible with blinking eye movements",Locked-In Syndrome,0000185,NINDS,http://www.ninds.nih.gov/disorders/lockedinsyndrome/lockedinsyndrome.htm,C0039082,T047,Disorders What are the treatments for Locked-In Syndrome ?,0000185-2,treatment,"There is no cure for locked-in syndrome, nor is there a standard course of treatment. A therapy called functional neuromuscular stimulation, which uses electrodes to stimulate muscle reflexes, may help activate some paralyzed muscles. Several devices to help communication are available. Other treatment is symptomatic and supportive.",Locked-In Syndrome,0000185,NINDS,http://www.ninds.nih.gov/disorders/lockedinsyndrome/lockedinsyndrome.htm,C0039082,T047,Disorders What is the outlook for Locked-In Syndrome ?,0000185-3,outlook,"While in rare cases some patients may regain certain functions, the chances for motor recovery are very limited.",Locked-In Syndrome,0000185,NINDS,http://www.ninds.nih.gov/disorders/lockedinsyndrome/lockedinsyndrome.htm,C0039082,T047,Disorders what research (or clinical trials) is being done for Locked-In Syndrome ?,0000185-4,research,"The NINDS supports research on neurological disorders that can cause locked-in syndrome. The goals of this research are to find ways to prevent, treat, and cure these disorders.",Locked-In Syndrome,0000185,NINDS,http://www.ninds.nih.gov/disorders/lockedinsyndrome/lockedinsyndrome.htm,C0039082,T047,Disorders What is (are) Neurological Sequelae Of Lupus ?,0000186-1,information,"Lupus (also called systemic lupus erythematosus) is a disorder of the immune system. Normally, the immune system protects the body against invading infections and cancers. In lupus, the immune system is over-active and produces increased amounts of abnormal antibodies that attack the body's tissues and organs. Lupus can affect many parts of the body, including the joints, skin, kidneys, lungs, heart, nervous system, and blood vessels. The signs and symptoms of lupus differ from person to person; the disease can range from mild to life threatening. Initial symptoms of lupus may begin with a fever, vascular headaches, epilepsy, or psychoses. A striking feature of lupus is a butterfly shaped rash over the cheeks. In addition to headache, lupus can cause other neurological disorders, such as mild cognitive dysfunction, organic brain syndrome, peripheral neuropathies, sensory neuropathy, psychological problems (including personality changes, paranoia, mania, and schizophrenia), seizures, transverse myelitis, and paralysis and stroke.",Neurological Sequelae Of Lupus,0000186,NINDS,http://www.ninds.nih.gov/disorders/lupus/lupus.htm,C0543419,T046,Disorders What are the treatments for Neurological Sequelae Of Lupus ?,0000186-2,treatment,"There is no cure for lupus. Treatment is symptomatic. With a combination of medication, rest, exercise, proper nutrition, and stress management, most individuals with lupus can often achieve remission or reduce their symptom levels. Medications used in the treatment of lupus may include aspirin and other nonsteroidal anti-inflammatory medications, antimalarials, corticosteroids, and immunosuppressive drugs.",Neurological Sequelae Of Lupus,0000186,NINDS,http://www.ninds.nih.gov/disorders/lupus/lupus.htm,C0543419,T046,Disorders What is the outlook for Neurological Sequelae Of Lupus ?,0000186-3,outlook,"The prognosis for lupus varies widely depending on the organs involved and the intensity of the inflammatory reaction. The course of lupus is commonly chronic and relapsing, often with long periods of remission. Most individuals with lupus do not develop serious health problems and have a normal lifespan with periodic doctor visits and treatments with various drugs.",Neurological Sequelae Of Lupus,0000186,NINDS,http://www.ninds.nih.gov/disorders/lupus/lupus.htm,C0543419,T046,Disorders what research (or clinical trials) is being done for Neurological Sequelae Of Lupus ?,0000186-4,research,"Investigators researching lupus seek to increase scientific understanding of the disorder and to find ways to treat, prevent, and ultimately, cure it. Several components of the National Institutes of Health support research on lupus.",Neurological Sequelae Of Lupus,0000186,NINDS,http://www.ninds.nih.gov/disorders/lupus/lupus.htm,C0543419,T046,Disorders What are the complications of Machado-Joseph Disease ?,0000187-1,complications,"Lyme disease is caused by a bacterial organism that is transmitted to humans via the bite of an infected tick. Most people with Lyme disease develop a characteristic skin rash around the area of the bite. The rash may feel hot to the touch, and vary in size, shape, and color, but it will often have a ""bull's eye"" appearance (a red ring with a clear center). However, there are those who will not develop the rash, which can make Lyme disease hard to diagnose because its symptoms and signs mimic those of many other diseases. Anywhere from 7 to 14 days (or in some cases, 30 days) following an infected tick's bite, the first stage of Lyme disease may begin with flu-like symptoms such as fever, chills, swollen lymph nodes, headaches, fatigue, muscle aches, and joint pain. Neurological complications most often occur in the second stage of Lyme disease, with numbness, pain, weakness, Bell's palsy (paralysis of the facial muscles), visual disturbances, and meningitis symptoms such as fever, stiff neck, and severe headache. Other problems, which may not appear until weeks, months, or years after a tick bite, include decreased concentration, irritability, memory and sleep disorders, and nerve damage in the arms and legs.",Machado-Joseph Disease,0000187,NINDS,http://www.ninds.nih.gov/disorders/lyme/lyme.htm,C0024408,T047,Disorders What are the treatments for Machado-Joseph Disease ?,0000187-2,treatment,Lyme disease is treated with antibiotics under the supervision of a physician.,Machado-Joseph Disease,0000187,NINDS,http://www.ninds.nih.gov/disorders/lyme/lyme.htm,C0024408,T047,Disorders What is the outlook for Machado-Joseph Disease ?,0000187-3,outlook,"Most individuals with Lyme disease respond well to antibiotics and have full recovery. In a small percentage of individuals, symptoms may continue or recur, requiring additional antibiotic treatment. Varying degrees of permanent joint or nervous system damage may develop in individuals with late-stage Lyme disease.",Machado-Joseph Disease,0000187,NINDS,http://www.ninds.nih.gov/disorders/lyme/lyme.htm,C0024408,T047,Disorders what research (or clinical trials) is being done for Machado-Joseph Disease ?,0000187-4,research,"The NINDS supports research on Lyme disease. Current areas of interest include improving diagnostic tests and developing more effective treatments. The National Institute of Allergy and Infectious Diseases (NIAID), the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), and the National Center for Research Resources (NCRR), all parts of the National Institutes of Health (NIH), also support research on Lyme disease.",Machado-Joseph Disease,0000187,NINDS,http://www.ninds.nih.gov/disorders/lyme/lyme.htm,C0024408,T047,Disorders What is (are) Machado-Joseph Disease ?,0000188-1,information,"Machado-Joseph disease (MJD), which is also called spinocerebellar ataxia type 3, is a rare hereditary ataxia (ataxia is a medical term meaning lack of muscle control). The disease is characterized by slowly progressive clumsiness and weakness in the arms and legs, spasticity, a staggering lurching gait easily mistaken for drunkenness, difficulty with speech and swallowing, involuntary eye movements, double vision, and frequent urination. Some individuals also have dystonia (sustained muscle contractions that cause twisting of the body and limbs, repetitive movements, abnormal postures, and rigidity) or symptoms similar to those of Parkinson's disease. Others have twitching of the face or tongue, or peculiar bulging eyes. Almost all individuals with MJD experience vision problems, including double vision or blurred vision, loss of the ability to distinguish color and/or contrast, and inability to control eye movements.",Machado-Joseph Disease,0000188,NINDS,http://www.ninds.nih.gov/disorders/machado_joseph/machado_joseph.htm,C0024408,T047,Disorders What are the treatments for Machado-Joseph Disease ?,0000188-2,treatment,"MJD is incurable, but some symptoms of the disease can be treated. For those individuals who show parkinsonian features, levodopa therapy can help for many years. Treatment with antispasmodic drugs, such as baclofen, can help reduce spasticity. Botulinum toxin can also treat severe spasticity as well as some symptoms of dystonia. Speech problems and trouble swallowing can be treated with medication and speech therapy. Physiotherapy can help patients cope with disability associated with gait problems. Physical aids, such as walkers and wheelchairs, can assist with everyday activities.",Machado-Joseph Disease,0000188,NINDS,http://www.ninds.nih.gov/disorders/machado_joseph/machado_joseph.htm,C0024408,T047,Disorders What is the outlook for Machado-Joseph Disease ?,0000188-3,outlook,"The severity of the disease is related to the age of onset, with earlier onset associated with more severe forms of the disease. Symptoms can begin any time between early adolescence and about 70 years of age. MJD is a progressive disease, meaning that symptoms get worse with time. Life expectancy ranges from the mid-thirties for those with severe forms of MJD to a normal life expectancy for those with mild forms. The cause of death for those who die early is often aspiration pneumonia.",Machado-Joseph Disease,0000188,NINDS,http://www.ninds.nih.gov/disorders/machado_joseph/machado_joseph.htm,C0024408,T047,Disorders what research (or clinical trials) is being done for Machado-Joseph Disease ?,0000188-4,research,"The National Institute of Neurological Disorders and Stroke (NINDS) conducts MJD research in its laboratories at the National Institutes of Health (NIH) and also supports MJD research through grants to major medical institutions across the country. Ongoing research includes studies to better understand the genetic, molecular, and cellular mechanisms that underlie inherited neurodegenerative diseases such as MJD. Other research areas include the development of novel therapies to treat the symptoms of MJD, efforts to identify diagnostic markers and to improve current diagnostic procedures for the disease, and population studies to identify affected families.",Machado-Joseph Disease,0000188,NINDS,http://www.ninds.nih.gov/disorders/machado_joseph/machado_joseph.htm,C0024408,T047,Disorders What is (are) Megalencephaly ?,0000189-1,information,"Megalencephaly, also called macrencephaly, is a condition in which an infant or child has an abnormally large, heavy, and usually malfunctioning brain. By definition, the brain weight is greater than average for the age and gender of the child. Head enlargement may be evident at birth or the head may become abnormally large in the early years of life. Megalencephaly is thought to be related to a disturbance in the regulation of cell production in the brain. In normal development, neuron proliferation - the process in which nerve cells divide to form new generations of cells - is regulated so that the correct number of cells is produced in the proper place at the appropriate time. In a megalencephalic brain, too many cells are produced either during development or progressively as part of another disorder, such as one of the neurofibromatoses or leukodystrophies. Symptoms of megalencephaly include delayed development, seizures, and corticospinal (brain cortex and spinal cord) dysfunction. Megalencephaly affects males more often than females. Unilateral megalencephaly or hemimegalencephaly is a rare condition that is characterized by the enlargement of one side of the brain. Children with this disorder may have a large, asymmetrical head accompanied by seizures, partial paralysis, and impaired cognitive development. Megalencephaly is different from macrocephaly (also called megacephaly or megalocephaly), which describes a big head, and which doesnt necessarily indicate abnormality. Large head size is passed down through the generations in some families.",Megalencephaly,0000189,NINDS,http://www.ninds.nih.gov/disorders/megalencephaly/megalencephaly.htm,C2720434,T019,Disorders What are the treatments for Megalencephaly ?,0000189-2,treatment,There is no standard treatment for megalencephaly. Treatment will depend upon the disorder with which the megalencephaly is associated and will address individual symptoms and disabilities.,Megalencephaly,0000189,NINDS,http://www.ninds.nih.gov/disorders/megalencephaly/megalencephaly.htm,C2720434,T019,Disorders What is the outlook for Megalencephaly ?,0000189-3,outlook,The prognosis for infants and children with megalencephaly depends upon the underlying cause and the associated neurological disorders. The prognosis for children with hemimegalencephaly is poor.,Megalencephaly,0000189,NINDS,http://www.ninds.nih.gov/disorders/megalencephaly/megalencephaly.htm,C2720434,T019,Disorders what research (or clinical trials) is being done for Megalencephaly ?,0000189-4,research,The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research related to megalencephaly in laboratories at the NIH and also support additional research through grants to major medical institutions across the country. Much of this research explores the complex mechanisms of normal brain development. The knowledge gained from these fundamental studies will provide a foundation for developing ways to prevent megalencephaly and the other cephalic disorders.,Megalencephaly,0000189,NINDS,http://www.ninds.nih.gov/disorders/megalencephaly/megalencephaly.htm,C2720434,T019,Disorders What is (are) Melkersson-Rosenthal Syndrome ?,0000190-1,information,"Melkersson-Rosenthal syndrome is a rare neurological disorder characterized by recurring facial paralysis, swelling of the face and lips (usually the upper lip), and the development of folds and furrows in the tongue. Onset is in childhood or early adolescence. After recurrent attacks (ranging from days to years in between), swelling may persist and increase, eventually becoming permanent. The lip may become hard, cracked, and fissured with a reddish-brown discoloration. The cause of Melkersson-Rosenthal syndrome is unknown, but there may be a genetic predisposition. It can be symptomatic of Crohn's disease or sarcoidosis.",Melkersson-Rosenthal Syndrome,0000190,NINDS,http://www.ninds.nih.gov/disorders/melkersson/melkersson.htm,C0025235,T047,Disorders What are the treatments for Melkersson-Rosenthal Syndrome ?,0000190-2,treatment,"Treatment is symptomatic and may include medication therapies with nonsteroidal anti-inflammatory drugs (NSAIDs) and corticosteroids to reduce swelling, as well as antibiotics and immunosuppressants. Surgery may be recommended to relieve pressure on the facial nerves and to reduce swollen tissue, but its effectiveness has not been established. Massage and electrical stimulation may also be prescribed.",Melkersson-Rosenthal Syndrome,0000190,NINDS,http://www.ninds.nih.gov/disorders/melkersson/melkersson.htm,C0025235,T047,Disorders What is the outlook for Melkersson-Rosenthal Syndrome ?,0000190-3,outlook,Melkersson-Rosenthal syndrome may recur intermittently after its first appearance. It can become a chronic disorder. Follow-up care should exclude the development of Crohn's disease or sarcoidosis.,Melkersson-Rosenthal Syndrome,0000190,NINDS,http://www.ninds.nih.gov/disorders/melkersson/melkersson.htm,C0025235,T047,Disorders what research (or clinical trials) is being done for Melkersson-Rosenthal Syndrome ?,0000190-4,research,"The NINDS supports research on neurological disorders such as Melkersson-Rosenthal syndrome. Much of this research is aimed at increasing knowledge of these disorders and finding ways to treat, prevent, and ultimately cure them.",Melkersson-Rosenthal Syndrome,0000190,NINDS,http://www.ninds.nih.gov/disorders/melkersson/melkersson.htm,C0025235,T047,Disorders What is (are) Menkes Disease ?,0000191-1,information,"Menkes disease is caused by a defective gene named ATPTA1 that regulates the metabolism of copper in the body. The disease primarily affects male infants. Copper accumulates at abnormally low levels in the liver and brain, but at higher than normal levels in the kidney and intestinal lining. Affected infants may be born prematurely, but appear healthy at birth and develop normally for 6 to 8 weeks. Then symptoms begin, including floppy muscle tone, seizures, and failure to thrive. Menkes disease is also characterized by subnormal body temperature and strikingly peculiar hair, which is kinky, colorless or steel-colored, and breaks easily. There is often extensive neurodegeneration in the gray matter of the brain. Arteries in the brain may be twisted with frayed and split inner walls. This can lead to rupture or blockage of the arteries. Weakened bones (osteoporosis) may result in fractures.",Menkes Disease,0000191,NINDS,http://www.ninds.nih.gov/disorders/menkes/menkes.htm,C0022716,T047,Disorders What are the treatments for Menkes Disease ?,0000191-2,treatment,Treatment with daily copper injections may improve the outcome in Menkes disease if it begins within days after birth. Other treatment is symptomatic and supportive.,Menkes Disease,0000191,NINDS,http://www.ninds.nih.gov/disorders/menkes/menkes.htm,C0022716,T047,Disorders What is the outlook for Menkes Disease ?,0000191-3,outlook,"Since newborn screening for this disorder is not available, and early detection is infrequent because the clinical signs of Menkes disease are subtle in the beginning, the disease is rarely treated early enough to make a significant difference. The prognosis for babies with Menkes disease is poor. Most children with Menkes disease die within the first decade of life.",Menkes Disease,0000191,NINDS,http://www.ninds.nih.gov/disorders/menkes/menkes.htm,C0022716,T047,Disorders what research (or clinical trials) is being done for Menkes Disease ?,0000191-4,research,"Recent research sponsored by the NINDS developed a blood test that could be given to newborns at risk for Menkes disease based on a positive family history for the disorder or other indications. The test measures 4 different chemicals in the blood and, depending upon their levels, can accurately diagnose the presence of Menkes disease before symptoms appear. Study results showed higher survival rates for children given the earliest copper injection treatment and improved, if not normal, 2. Additional research is being performed by the Eunice Kennedy Shriver National Institute of Child Health and Human Development, in collaboration with the NINDS, that applies gene therapy approaches to Menkes disease.3 1. Kaler, SG. The neurology of STPAT copper transporter disease: emerging concepts and future trends. Nature Reviews Neurology, 2001:7:15-19.. 2. Kaler SG, et al.Neonatal Diagnosis and Treatment of Menkes Disease. N Engl J Med 2008;358:605-14. 3. Donsante, A. et. al. ATPTA gene addition to the choroid plexus results in long-term rescue of the lethal copper transport defect in a Menkes disease mouse model. Molecular Therapy (in press as of August 2011).",Menkes Disease,0000191,NINDS,http://www.ninds.nih.gov/disorders/menkes/menkes.htm,C0022716,T047,Disorders What is (are) Metachromatic Leukodystrophy ?,0000192-1,information,"Metachromatic leukodystrophy (MLD) is one of a group of genetic disorders called the leukodystrophies, which are characterized by the toxic buildup of lipids (fatty materials such as oils and waxes) and other storage materials in cells in the white matter of the central nervous system and peripheral nerves. The buildup of storage materials impairs the growth or development of the myelin sheath, the fatty covering that acts as an insulator around nerve fibers. (Myelin, which lends its color to the white matter of the brain, is a complex substance made up of a mixture of fats and proteins.) MLD is one of several lipid storage diseases, which result in the harmful buildup of lipids in brain cells and other cells and tissues in the body. People with lipid storage diseases either do not produce enough of one of the enzymes needed to break down (metabolize) lipids or they produce enzymes that do not work properly. Some leukodystrophies are caused by genetic defects of enzymes that regulate the metabolism of fats needed in myelin synthesis. MLD, which affects males and females, is cause by a deficiency of the enzyme arylsulfatase A. MLD has three characteristic forms: late infantile, juvenile, and adult. Late infantile MLD typically begins between 12 and 20 months following birth. Infants appear normal at first but develop difficulty walking after the first year of life and eventually lose the ability to walk. Other symptoms include muscle wasting and weakness,developmental delays, progressive loss of vision leading to blindness, impaired swallowing, and dementia before age 2. Most children with this form of MLD die by age 5. Symptoms of the juvenile form of MLD (which begins between 3-10 years of age) include impaired school performance, mental deterioration, an inability to control movements, seizures, and dementia. Symptoms continue to get worse, and death eventually occurs 10 to 20 years following disease onset.. The adult form commonly begins after age 16, with symptoms that include psychiatric disturbances, seizures, tremor, impaired concentration, depression, and dementia. Death generally occurs within 6 to 14 years after onset of symptoms.",Metachromatic Leukodystrophy,0000192,NINDS,http://www.ninds.nih.gov/disorders/metachromatic_leukodystrophy/metachromatic_leukodystrophy.htm,C0023522,T047,Disorders What are the treatments for Metachromatic Leukodystrophy ?,0000192-2,treatment,There is no cure for MLD. Bone marrow transplantation may delay progression of the disease in some infantile-onset cases. Other treatment is symptomatic and supportive. Considerable progress has been made with regard to gene therapy in an animal model of MLD and in clinical trials.,Metachromatic Leukodystrophy,0000192,NINDS,http://www.ninds.nih.gov/disorders/metachromatic_leukodystrophy/metachromatic_leukodystrophy.htm,C0023522,T047,Disorders What is the outlook for Metachromatic Leukodystrophy ?,0000192-3,outlook,The prognosis for MLD is poor. Most children within the infantile form die by age 5. Symptoms of the juvenile form progress with death occurring 10 to 20 years following onset. Those persons affected by the adult form typically die withing 6 to 14 years following onset of symptoms.,Metachromatic Leukodystrophy,0000192,NINDS,http://www.ninds.nih.gov/disorders/metachromatic_leukodystrophy/metachromatic_leukodystrophy.htm,C0023522,T047,Disorders what research (or clinical trials) is being done for Metachromatic Leukodystrophy ?,0000192-4,research,"The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge of the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. The NINDS is a part of the National Institutes of Health (NIH), the leading supporter of biomedical research in the world. Research funded by the NINDS focuses on better understanding how neurological defects arise in lipid storage disorders and on the development of new treatments targeting disease mechanisms, including gene therapies, cell-based therapies, and pharmacological approaches. NINDS-funded preclinical research aims to study the effectiveness and safety of virus-based delivery of the normal ARSA gene to promote gene expression throughout the central nervous system and overcome the mutation-caused deficiency. If successful, the project could lead to trials in humans. Other research hopes to study the use of patient-specific induced pluripotent stem cells (cells that are capable of becoming other types of cells) in correcting the gene deficiency in metachromatic leukodystrophy.",Metachromatic Leukodystrophy,0000192,NINDS,http://www.ninds.nih.gov/disorders/metachromatic_leukodystrophy/metachromatic_leukodystrophy.htm,C0023522,T047,Disorders What is (are) Microcephaly ?,0000193-1,information,"Microcephaly is a medical condition in which the circumference of the head is smaller than normal because the brain has not developed properly or has stopped growing. Microcephaly can be present at birth or it may develop in the first few years of life. It is most often caused by genetic abnormalities that interfere with the growth of the cerebral cortex during the early months of fetal development. Babies may also be born with microcephaly if, during pregnancy, their mother abused drugs or alcohol; became infected with a cytomegalovirus, rubella (German measles), varicella (chicken pox) virus, or possibly Zika virus; was exposed to certain toxic chemicals; or had untreated phenylketonuria (PKU, a harmful buildup of the amino acid phenylalanine in the blood). Microcephaly is associated with Downs syndrome, chromosomal syndromes, and neurometabolic syndromes. With viral-induced brain injury, such as with the Zika virus, there is often widespread tissue and cell death leading to brain shrinkage rather than simply impaired growth. The Zika virus is also associated with retinal lesions in about a third of cases, often leading to blindness. Depending on the severity of the accompanying syndrome, children with microcephaly may have impaired cognitive development, delayed motor functions and speech, facial distortions, dwarfism or short stature, hyperactivity, seizures, difficulties with coordination and balance, and other brain or neurological abnormalities.",Microcephaly,0000193,NINDS,http://www.ninds.nih.gov/disorders/microcephaly/microcephaly.htm,C0025958,T019,Disorders What are the treatments for Microcephaly ?,0000193-2,treatment,"There is no treatment for microcephaly that can return a childs head to a normal size or shape. Treatment focuses on ways to decrease the impact of the associated deformities and neurological disabilities. Children with microcephaly and developmental delays are usually evaluated by a pediatric neurologist and followed by a medical management team. Early childhood intervention programs that involve physical, speech, and occupational therapists help to maximize abilities and minimize dysfunction. Medications are often used to control seizures, hyperactivity, and neuromuscular symptoms. Genetic counseling may help families understand the risk for microcephaly in subsequent pregnancies.",Microcephaly,0000193,NINDS,http://www.ninds.nih.gov/disorders/microcephaly/microcephaly.htm,C0025958,T019,Disorders What is the outlook for Microcephaly ?,0000193-3,outlook,"Some children with microcephaly will have normal intelligence and a head that will grow bigger, but they may track below the normal growth curves for head circumference. Some children may have only mild disability, while those with more severe cases may face significant learning disabilities, cognitive delays, or develop other neurological disorders. Many, if not most, cases if Zika microcephaly will be very severe, possibly requiring lifelong intensive care.",Microcephaly,0000193,NINDS,http://www.ninds.nih.gov/disorders/microcephaly/microcephaly.htm,C0025958,T019,Disorders what research (or clinical trials) is being done for Microcephaly ?,0000193-4,research,"The National Institute of Neurological Disorders and Stroke (NINDS), one of several institutes of the National Institutes of Health (NIH), conducts and funds research aimed at understanding normal brain development, as well as disease-related disorders of the brain and nervous system. Other NIH institutes and centers also support research on disorders that may affect development. Among several projects, scientists are studying genetic mechanisms and identifying novel genes involved with brain development. Animal models are helping scientists to better understand the pathology of human disease, and to discover how the sizes of tissues and organs are impacted by developmental variability. Other researchers hope to gain a better understanding of normal brain development and the molecular and cellular mechanisms of microcephaly.",Microcephaly,0000193,NINDS,http://www.ninds.nih.gov/disorders/microcephaly/microcephaly.htm,C0025958,T019,Disorders What is (are) Migraine ?,0000194-1,information,"The pain of a migraine headache is often described as an intense pulsing or throbbing pain in one area of the head. However, it is much more; the International Headache Society diagnoses a migraine by its pain and number of attacks (at least 5, lasting 4-72 hours if untreated), and additional symptoms including nausea and/or vomiting, or sensitivity to both light and sound. Migraine is three times more common in women than in men and affects more than 10 percent of people worldwide. Roughly one-third of affected individuals can predict the onset of a migraine because it is preceded by an ""aura,"" visual disturbances that appear as flashing lights, zig-zag lines or a temporary loss of vision. People with migraine tend to have recurring attacks triggered by a number of different factors, including stress, anxiety, hormonal changes, bright or flashing lights, lack of food or sleep, and dietary substances. Migraine in some women may relate to changes in hormones and hormonal levels during their menstrual cycle. For many years, scientists believed that migraines were linked to the dilation and constriction of blood vessels in the head. Investigators now believe that migraine has a genetic cause.",Migraine,0000194,NINDS,http://www.ninds.nih.gov/disorders/migraine/migraine.htm,C0149931,T047,Disorders What are the treatments for Migraine ?,0000194-2,treatment,"There is no absolute cure for migraine since its pathophysiology has yet to be fully understood. There are two ways to approach the treatment of migraine headache with drugs: prevent the attacks, or relieve the symptoms during the attacks. Prevention involves the use of medications and behavioral changes. Drugs originally developed for epilepsy, depression, or high blood pressure to prevent future attacks have been shown to be extremely effective in treating migraine. Botulinum toxin A has been shown to be effective in prevention of chronic migraine. Behaviorally, stress management strategies, such as exercise, relaxation techniques, biofeedback mechanisms, and other therapies designed to limit daily discomfort, may reduce the number and severity of migraine attacks. Making a log of personal triggers of migraine can also provide useful information for trigger-avoiding lifestyle changes, including dietary considerations, eating regularly scheduled meals with adequate hydration, stopping certain medications, and establishing a consistent sleep schedule. Hormone therapy may help some women whose migraines seem to be linked to their menstrual cycle. A weight loss program is recommended for obese individuals with migraine. Relief of symptoms, or acute treatments, during attacks consists of sumatriptan, ergotamine drugs, and analgesics such as ibuprofen and aspirin. The sooner these treatments are administered, the more effective they are.",Migraine,0000194,NINDS,http://www.ninds.nih.gov/disorders/migraine/migraine.htm,C0149931,T047,Disorders What is the outlook for Migraine ?,0000194-3,outlook,"Responsive prevention and treatment of migraine is incredibly important. Evidence shows an increased sensitivity after each successive attack, eventually leading to chronic daily migraine in some individuals With proper combination of drugs for prevention and treatment of migraine attacks most individuals can overcome much of the discomfort from this debilitating disorder. Women whose migraine attacks occur in association with their menstrual cycle are likely to have fewer attacks and milder symptoms after menopause.",Migraine,0000194,NINDS,http://www.ninds.nih.gov/disorders/migraine/migraine.htm,C0149931,T047,Disorders what research (or clinical trials) is being done for Migraine ?,0000194-4,research,"Researchers believe that migraine is the result of fundamental neurological abnormalities caused by genetic mutations at work in the brain. New models are aiding scientists in studying the basic science involved in the biological cascade, genetic components and mechanisms of migraine. Understanding the causes of migraine as well as the events that effect them will give researchers the opportunity to develop and test drugs that could be more targeted to preventing or interrupting attacks entirely. Therapies currently being tested for their effectiveness in treating migraine include magnesium, coenzyme Q10, vitamin B12, riboflavin, fever-few, and butterbur. In 2010, a team of researchers found a common mutation in the gene TRESK which contains instructions for a certain potassium ion channel. Potassium channels are important for keeping a nerve cell at rest and mutations in them can lead to overactive cells that respond to much lower levels of pain. Large genetic analyses similar to the one used to identify TRESK will most likely lead to the identification of a number of other genes linked to migraine.",Migraine,0000194,NINDS,http://www.ninds.nih.gov/disorders/migraine/migraine.htm,C0149931,T047,Disorders What is (are) Transient Ischemic Attack ?,0000195-1,information,"A transient ischemic attack (TIA) is a transient stroke that lasts only a few minutes. It occurs when the blood supply to part of the brain is briefly interrupted. TIA symptoms, which usually occur suddenly, are similar to those of stroke but do not last as long. Most symptoms of a TIA disappear within an hour, although they may persist for up to 24 hours. Symptoms can include: numbness or weakness in the face, arm, or leg, especially on one side of the body; confusion or difficulty in talking or understanding speech; trouble seeing in one or both eyes; and difficulty with walking, dizziness, or loss of balance and coordination.",Transient Ischemic Attack,0000195,NINDS,http://www.ninds.nih.gov/disorders/tia/tia.htm,C0007787,T047,Disorders What are the treatments for Transient Ischemic Attack ?,0000195-2,treatment,"Because there is no way to tell whether symptoms are from a TIA or an acute stroke, patients should assume that all stroke-like symptoms signal an emergency and should not wait to see if they go away. A prompt evaluation (within 60 minutes) is necessary to identify the cause of the TIA and determine appropriate therapy. Depending on a patient's medical history and the results of a medical examination, the doctor may recommend drug therapy or surgery to reduce the risk of stroke in people who have had a TIA. The use of antiplatelet agents, particularly aspirin, is a standard treatment for patients at risk for stroke. People with atrial fibrillation (irregular beating of the heart) may be prescribed anticoagulants.",Transient Ischemic Attack,0000195,NINDS,http://www.ninds.nih.gov/disorders/tia/tia.htm,C0007787,T047,Disorders What is the outlook for Transient Ischemic Attack ?,0000195-3,outlook,"TIAs are often warning signs that a person is at risk for a more serious and debilitating stroke. About one-third of those who have a TIA will have an acute stroke some time in the future. Many strokes can be prevented by heeding the warning signs of TIAs and treating underlying risk factors. The most important treatable factors linked to TIAs and stroke are high blood pressure, cigarette smoking, heart disease, carotid artery disease, diabetes, and heavy use of alcohol. Medical help is available to reduce and eliminate these factors. Lifestyle changes such as eating a balanced diet, maintaining healthy weight, exercising, and enrolling in smoking and alcohol cessation programs can also reduce these factors.",Transient Ischemic Attack,0000195,NINDS,http://www.ninds.nih.gov/disorders/tia/tia.htm,C0007787,T047,Disorders what research (or clinical trials) is being done for Transient Ischemic Attack ?,0000195-4,research,NINDS is the leading supporter of research on stroke and TIA in the U.S. and sponsors studies ranging from clinical trials to investigations of basic biological mechanisms as well as studies with animals.,Transient Ischemic Attack,0000195,NINDS,http://www.ninds.nih.gov/disorders/tia/tia.htm,C0007787,T047,Disorders What is (are) Mitochondrial Myopathy ?,0000196-1,information,"Mitochondrial myopathies are a group of neuromuscular diseases caused by damage to the mitochondriasmall, energy-producing structures that serve as the cells' ""power plants."" Nerve cells in the brain and muscles require a great deal of energy, and thus appear to be particularly damaged when mitochondrial dysfunction occurs. Some of the more common mitochondrial myopathies include Kearns-Sayre syndrome, myoclonus epilepsy with ragged-red fibers, and mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes. The symptoms of mitochondrial myopathies include muscle weakness or exercise intolerance, heart failure or rhythm disturbances, dementia, movement disorders, stroke-like episodes, deafness, blindness, droopy eyelids, limited mobility of the eyes, vomiting, and seizures. The prognosis for these disorders ranges in severity from progressive weakness to death. Most mitochondrial myopathies occur before the age of 20, and often begin with exercise intolerance or muscle weakness. During physical activity, muscles may become easily fatigued or weak. Muscle cramping is rare, but may occur. Nausea, headache, and breathlessness are also associated with these disorders.",Mitochondrial Myopathy,0000196,NINDS,http://www.ninds.nih.gov/disorders/mitochondrial_myopathy/mitochondrial_myopathy.htm,C0162670,T047,Disorders What are the treatments for Mitochondrial Myopathy ?,0000196-2,treatment,"Although there is no specific treatment for any of the mitochondrial myopathies, physical therapy may extend the range of movement of muscles and improve dexterity. Vitamin therapies such as riboflavin, coenzyme Q, and carnitine (a specialized amino acid) may provide subjective improvement in fatigue and energy levels in some patients.",Mitochondrial Myopathy,0000196,NINDS,http://www.ninds.nih.gov/disorders/mitochondrial_myopathy/mitochondrial_myopathy.htm,C0162670,T047,Disorders What is the outlook for Mitochondrial Myopathy ?,0000196-3,outlook,"The prognosis for patients with mitochondrial myopathies varies greatly, depending largely on the type of disease and the degree of involvement of various organs. These disorders cause progressive weakness and can lead to death.",Mitochondrial Myopathy,0000196,NINDS,http://www.ninds.nih.gov/disorders/mitochondrial_myopathy/mitochondrial_myopathy.htm,C0162670,T047,Disorders what research (or clinical trials) is being done for Mitochondrial Myopathy ?,0000196-4,research,"The NINDS conducts and supports research on mitochondrial myopathies. The goals of this research are to increase scientific understanding of these disorders and to find ways to effectively treat, prevent, or potentially cure them.",Mitochondrial Myopathy,0000196,NINDS,http://www.ninds.nih.gov/disorders/mitochondrial_myopathy/mitochondrial_myopathy.htm,C0162670,T047,Disorders What is (are) Motor Neuron Diseases ?,0000197-1,information,"The motor neuron diseases (MNDs) are a group of progressive neurological disorders that destroy cells that control essential muscle activity such as speaking, walking, breathing, and swallowing. Normally, messages from nerve cells in the brain (called upper motor neurons) are transmitted to nerve cells in the brain stem and spinal cord (called lower motor neurons) and from them to particular muscles. When there are disruptions in these signals, the result can be gradual muscle weakening, wasting away, and uncontrollable twitching (called fasciculations). Eventually, the ability to control voluntary movement can be lost. MNDs may be inherited or acquired, and they occur in all age groups. MNDs occur more commonly in men than in women, and symptoms may appear after age 40. In children, particularly in inherited or familial forms of the disease, symptoms can be present at birth or appear before the child learns to walk. The causes of sporadic (noninherited) MNDs are not known, but environmental, toxic, viral, or genetic factors may be implicated. Common MNDs include amyotrophic lateral sclerosis (ALS), progressive bulbar palsy, primary lateral sclerosis, and progressive muscular atrophy. Other MNDs include the many inherited forms of spinal muscular atrophy and post-polio syndrome, a condition that can strike polio survivors decades after their recovery from poliomyelitis.",Motor Neuron Diseases,0000197,NINDS,http://www.ninds.nih.gov/disorders/motor_neuron_diseases/motor_neuron_diseases.htm,C0085084,T047,Disorders What are the treatments for Motor Neuron Diseases ?,0000197-2,treatment,"There is no cure or standard treatment for the MNDs. Symptomatic and supportive treatment can help patients be more comfortable while maintaining their quality of life. The drug riluzole (Rilutek), which as of this date is the only drug approved by the U.S. Food and Drug Administration to treat ALS, prolongs life by 2-3 months but does not relieve symptoms. Other medicines that may help reduce symptoms include muscle relaxants such as baclofen, tizanidine, and the benzodiazepines for spasticity; glycopyrrolate and atropine to treat excessive saliva; and anticonvulsants and nonsteroidal anti-inflammatory drugs to relieve pain. Panic attacks can be treated with benzodiazepines. Some patients may require stronger medicines such as morphine to cope with musculoskeletal abnormalities or pain in later stages of the disorders, and opiates are used to provide comfort care in terminal stages of the disease. Physical and speech therapy, occupational therapy, and rehabilitation may help to improve posture, prevent joint immobility, slow muscle weakness and atrophy, and cope with swallowing difficulties. Applying heat may relieve muscle pain. Assistive devices such as supports or braces, orthotics, speech synthesizers, and wheelchairs help some patients retain independence. Proper nutrition and a balanced diet are essential to maintaining weight and strength.",Motor Neuron Diseases,0000197,NINDS,http://www.ninds.nih.gov/disorders/motor_neuron_diseases/motor_neuron_diseases.htm,C0085084,T047,Disorders What is the outlook for Motor Neuron Diseases ?,0000197-3,outlook,"Prognosis varies depending on the type of MND and the age of onset. Some MNDs, such as primary lateral sclerosis and Kennedy disease, are not fatal and progress slowly. Patients with spinal muscular atrophy may appear to be stable for long periods, but improvement should not be expected. Some MNDs, such as ALS and some forms of spinal muscular atrophy, are fatal.",Motor Neuron Diseases,0000197,NINDS,http://www.ninds.nih.gov/disorders/motor_neuron_diseases/motor_neuron_diseases.htm,C0085084,T047,Disorders what research (or clinical trials) is being done for Motor Neuron Diseases ?,0000197-4,research,"The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge of the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. The NINDS is a component of the National Institutes of Health (NIH), the leading supporter of biomedical research in the world. Researchers are testing whether different drugs, agents, or interventions are safe and effective in slowing the progression of motor neuron diseasess. NIH is also conducting clinical trials to study drugs to stimulate muscle growth in Kennedys disease and to suppress endogenous retroviruses in individuals with ALS. A large NIH-led collaborative study is investigating the genes and gene activity, proteins, and modifications of adult stem cell models from both healthy people and those with ALS,spinal muscular atrophy, and other neurodegenerative diseases to better understand the function of neurons and other support cells and identify candidate therapeutic compounds. conducts research related to the MNDs in its laboratories at the National Institutes of Health (NIH), and also supports additional research through grants to major medical institutions across the country. Much of this research focuses on finding better ways to prevent, treat, and ultimately cure disorders such as the MNDs.",Motor Neuron Diseases,0000197,NINDS,http://www.ninds.nih.gov/disorders/motor_neuron_diseases/motor_neuron_diseases.htm,C0085084,T047,Disorders What is (are) Moyamoya Disease ?,0000198-1,information,"Moyamoya disease is a rare, progressive cerebrovascular disorder caused by blocked arteries at the base of the brain in an area called the basal ganglia. The name moyamoya means puff of smoke in Japanese and describes the look of the tangle of tiny vessels formed to compensate for the blockage. Moyamoya disease was first described in Japan in the 1960s and it has since been found in individuals in the other countries around the world; its incidence is higher in Asian countries than in Europe or North America. The disease primarily affects children, but it can also occur in adults. In children, the first symptom of Moyamoya disease is often stroke, or recurrent transient ischemic attacks (TIA, commonly referred to as mini-strokes), frequently accompanied by muscular weakness or paralysis affecting one side of the body, or seizures. Adults may also experience these symptoms that arise from blocked arteries, but more often experience a hemorrhagic stroke due to bleeding into the brain from the abnormal brain vessels. Individuals with this disorder may have disturbed consciousness, problems with speaking and understanding speech, sensory and cognitive impairments, involuntary movements, and vision problems.About one in 10 individuals with Moyamoya disease has a close relative who is also affected; in these cases researchers think that Moyamoya disease is the result of inherited genetic abnormalities.Studies that look for the abnormal gene(s) may help reveal the biomechanisms that cause the disorder.",Moyamoya Disease,0000198,NINDS,http://www.ninds.nih.gov/disorders/moyamoya/moyamoya.htm,C0026654,T047,Disorders What are the treatments for Moyamoya Disease ?,0000198-2,treatment,"There are several types of surgery that can restore blood flow (revascularization) to the brain by opening narrowed blood vessels or by bypassing blocked arteries. Children usually respond better to revascularization surgery than adults, but the majority of individuals have no further strokes or related problems after surgery.",Moyamoya Disease,0000198,NINDS,http://www.ninds.nih.gov/disorders/moyamoya/moyamoya.htm,C0026654,T047,Disorders What is the outlook for Moyamoya Disease ?,0000198-3,outlook,"Without surgery, the majority of individuals with Moyamoya disease will experience mental decline and multiple strokes because of the progressive narrowing of arteries.Without treatment,Moyamoya diseasecan be fatal as the result ofintracerebral hemorrhage (bleeding within the brain).",Moyamoya Disease,0000198,NINDS,http://www.ninds.nih.gov/disorders/moyamoya/moyamoya.htm,C0026654,T047,Disorders what research (or clinical trials) is being done for Moyamoya Disease ?,0000198-4,research,"The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. The NINDS conducts and supports neurological research aimed at understanding why diseases develop in the brain, and that focus on finding ways to prevent, treat, or cure them.Anti-angiogenic therapy uses drugs that either activate and promote cell growth or directly block the growing blood vessel cells. NINDS-funded researchers are testing the anti-angiogenic drug Apo-Timop, part of a class of drugs called beta-blockers, which may lead to the development of new anti-angiogenics for people with vascular malformations. In other research, Other NINDS-funded research hopes to improve the understanding of this disease by determining whether infections injure blood vessels and thereby predispose children to stroke. It will also determine causes of recurrence, a crucial step toward developing ways to prevent repeated strokes in children.",Moyamoya Disease,0000198,NINDS,http://www.ninds.nih.gov/disorders/moyamoya/moyamoya.htm,C0026654,T047,Disorders What is (are) Mucolipidoses ?,0000199-1,information,"The mucolipidoses (ML) are a group of inherited metabolic diseases that affect the bodys ability to carry out the normal turnover of various materials within cells. In ML, abnormal amounts of carbohydrates and fatty materials (lipids) accumulate in cells. Because our cells are not able to handle such large amounts of these substances, damage to the cells occurs, causing symptoms that range from mild learning disabilities to severe intellectual impairment and skeletal deformities. The group includes four diseases: - Mucolipidosis I (sialidosis) - Mucolipidosis II (inclusion-cell, or I-cell, disease) - Mucolipidosis III (pseudo-Hurler polydystrophy) - Mucolipidosis IV The MLs are classified as lysosomal storage diseases because they involve increased storage of substances in the lysosomes, which are specialized sac-like components within most cells. Individuals with ML are born with a genetic defect in which their bodies either do not produce enough enzymes or, in some instances, produce ineffective forms of enzymes. Without functioning enzymes, lysosomes cannot break down carbohydrates and lipids and transport them to their normal destination. The molecules then accumulate in the cells of various tissues in the body, leading to swelling and damage of organs. The mucolipidoses occur only when a child inherits two copies of the defective gene, one from each parent. When both parents carry a defective gene, each of their children faces a one in four chance of developing one of the MLs.",Mucolipidoses,0000199,NINDS,http://www.ninds.nih.gov/disorders/mucolipidoses/mucolipidoses.htm,C0026697,T047,Disorders What are the treatments for Mucolipidoses ?,0000199-2,treatment,"No cures or specific therapies for ML currently exists. Therapies are generally geared toward treating symptoms and providing supportive care to the child. For individuals with corneal clouding, surgery to remove the thin layer over the eye has been shown to reduce the cloudiness in the eye. However, this improvement may be only temporary. Physical and occupational therapy may help children with motor delays. Children with language delays may benefit from speech therapy. Children at risk for failure to thrive (growth failure) may need nutritional supplements, especially iron and vitamin B12 for persons with ML IV. Respiratory infections should be treated immediately and fully with antibiotics.",Mucolipidoses,0000199,NINDS,http://www.ninds.nih.gov/disorders/mucolipidoses/mucolipidoses.htm,C0026697,T047,Disorders What is the outlook for Mucolipidoses ?,0000199-3,outlook,"Symptoms of ML can be congenital (present at birth) or begin in early childhood or adolescence. Early symptoms can include skeletal abnormalities, vision problems and developmental delays. Over time, many children with ML develop poor mental capacities, have difficulty reaching normal developmental milestones, and, in many cases, eventually die of the disease.",Mucolipidoses,0000199,NINDS,http://www.ninds.nih.gov/disorders/mucolipidoses/mucolipidoses.htm,C0026697,T047,Disorders what research (or clinical trials) is being done for Mucolipidoses ?,0000199-4,research,"The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge of the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. Investigators are conducting studies to determine the effects of ML genetic mutations in various animal models of the disease. Studying the disease mechanisms in these models may allow scientists to develop treatments for people with an ML disorder.Clinical trials include a natural history of individuals with ML IV, to better understand the disease and identify potential outcomes, and longitudinal studies to better understand disease progression, assess current therapies, and identify potential treatments.",Mucolipidoses,0000199,NINDS,http://www.ninds.nih.gov/disorders/mucolipidoses/mucolipidoses.htm,C0026697,T047,Disorders What is (are) Mucopolysaccharidoses ?,0000200-1,information,"The mucopolysaccharidoses are a group of inherited metabolic diseases in which a defective or missing enzyme causes large amounts of complex sugar molecules to accumulate in harmful amounts in the body's cells and tissues. This accumulation causes permanent, progressive cellular damage that affects appearance, physical abilities, organ and system functioning, and, in most cases, mental development.Depending on the type of mucopolysaccharidosis, affected individuals may have normal intellect or may be profoundly impaired, may experience developmental delay, or have severe behavioral problems. Physical symptoms generally include coarse or rough facial features, thick lips, an enlarged mouth and tongue, short stature with a disproportionately short trunk (dwarfism), abnormal bone size or shape (and other skeletal irregularities), thickened skin, enlarged organs such as the liver or spleen, hernias, and excessive body hair growth.",Mucopolysaccharidoses,0000200,NINDS,http://www.ninds.nih.gov/disorders/mucopolysaccharidoses/mucopolysaccharidoses.htm,C0026703,T047,Disorders What are the treatments for Mucopolysaccharidoses ?,0000200-2,treatment,"Currently there is no cure for these disease syndromes.Medical care is directed at treating systemic conditions and improving the person's quality of life. Physical therapy and daily exercise may delay joint problems and improve the ability to move.Surgery to remove tonsils and adenoids may improve breathing among affected individuals with obstructive airway disorders and sleep apnea. Surgery can also correct hernias, help drain excessive cerebrospinal fluid from the brain, and free nerves and nerve roots compressed by skeletal and other abnormalities. Corneal transplants may improve vision among individuals with significant corneal clouding.Enzyme replacement therapies are currently in use for several MPS disorders and are beig tested in the other MPS disorders. Enzyme replacement therapy has proven useful in reducing non-neurological symptoms and pain.",Mucopolysaccharidoses,0000200,NINDS,http://www.ninds.nih.gov/disorders/mucopolysaccharidoses/mucopolysaccharidoses.htm,C0026703,T047,Disorders What is the outlook for Mucopolysaccharidoses ?,0000200-3,outlook,"The mucopolysaccharidoses syndromes share many clinical features but have varying degrees of severity. Most individuals with a mucopolysaccharidosis syndrome generally experience a period of normal development followed by a decline in physical and mental function. Longevity is dependent upon the particular syndrome. For example, children with a form of mucopolysaccharidosis called Hurler syndrome often die before age 10 from obstructive airway disease, respiratory infections, or cardiac complications. A child with the type known as Scheie syndrome can live into adulthood, while one with a mild case of the type known as Hunter syndrome may live into his or her 50s or beyond.",Mucopolysaccharidoses,0000200,NINDS,http://www.ninds.nih.gov/disorders/mucopolysaccharidoses/mucopolysaccharidoses.htm,C0026703,T047,Disorders what research (or clinical trials) is being done for Mucopolysaccharidoses ?,0000200-4,research,"The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system and to use that knowledge to reduce the burden of neurological disease.The NINDS, along with other Institutes at the National Institutes of Health, supports the Lysosomal Disease network, a network of centers that address some of the major challenges in the diagnosis, management, and therapy of diseases, including the mucopolysaccharidoses. Centers are conducting longitudinal studies of the natural history and/or treatment of these disorders. Scientists are working to identify the genes associated with the mucopolysaccharidoses syndromes and plan to test new therapies in animal models and in humans. Other research funded by the NINDS has shown that viral-delivered gene therapy in animal models of the mucopolysaccharidoses can stop the buildup of storage materials in brain cells and improve learning and memory. Researchers are planning additional studies to understand how gene therapy prompts recovery of mental function in these animal models, but it may be years before such treatment is available to humans.",Mucopolysaccharidoses,0000200,NINDS,http://www.ninds.nih.gov/disorders/mucopolysaccharidoses/mucopolysaccharidoses.htm,C0026703,T047,Disorders What is (are) Multifocal Motor Neuropathy ?,0000201-1,information,"Multifocal motor neuropathy is a progressive muscle disorder characterized by muscle weakness in the hands, with differences from one side of the body to the other in the specific muscles involved. It affects men much more than women. Symptoms also include muscle wasting, cramping, and involuntary contractions or twitching of the leg muscles. The disorder is sometimes mistaken for amyotrophic laterial sclerosis (ALS, or Lou Gehrig's disease) but unlike ALS, it is treatable. An early and accurate diagnosis allows patients to recover quickly.",Multifocal Motor Neuropathy,0000201,NINDS,http://www.ninds.nih.gov/disorders/multifocal_neuropathy/multifocal_neuropathy.htm,C0393847,T047,Disorders What are the treatments for Multifocal Motor Neuropathy ?,0000201-2,treatment,"Treatment for multifocal motor neuropathy varies. Some individuals experience only mild, modest symptoms and require no treatment. For others, treatment generally consists of intravenous immunoglobulin (IVIg) or immunosuppressive therapy with cyclophosphamide.",Multifocal Motor Neuropathy,0000201,NINDS,http://www.ninds.nih.gov/disorders/multifocal_neuropathy/multifocal_neuropathy.htm,C0393847,T047,Disorders What is the outlook for Multifocal Motor Neuropathy ?,0000201-3,outlook,"Improvement in muscle strength usually begins within 3 to 6 weeks after treatment is started. Most patients who receive treatment early experience little, if any, disability. However, there is evidence of slow progression over many years.",Multifocal Motor Neuropathy,0000201,NINDS,http://www.ninds.nih.gov/disorders/multifocal_neuropathy/multifocal_neuropathy.htm,C0393847,T047,Disorders what research (or clinical trials) is being done for Multifocal Motor Neuropathy ?,0000201-4,research,"The NINDS supports a broad range of research on neuromuscular disorders with the goal of finding ways to prevent, treat, and, ultimately, cure them.",Multifocal Motor Neuropathy,0000201,NINDS,http://www.ninds.nih.gov/disorders/multifocal_neuropathy/multifocal_neuropathy.htm,C0393847,T047,Disorders What is (are) Multiple Sclerosis ?,0000202-1,information,"An unpredictable disease of the central nervous system, multiple sclerosis (MS) can range from relatively benign to somewhat disabling to devastating, as communication between the brain and other parts of the body is disrupted. Many investigators believe MS to be an autoimmune disease -- one in which the body, through its immune system, launches a defensive attack against its own tissues. In the case of MS, it is the nerve-insulating myelin that comes under assault. Such assaults may be linked to an unknown environmental trigger, perhaps a virus. Most people experience their first symptoms of MS between the ages of 20 and 40; the initial symptom of MS is often blurred or double vision, red-green color distortion, or even blindness in one eye. Most MS patients experience muscle weakness in their extremities and difficulty with coordination and balance. These symptoms may be severe enough to impair walking or even standing. In the worst cases, MS can produce partial or complete paralysis. Most people with MS also exhibit paresthesias, transitory abnormal sensory feelings such as numbness, prickling, or ""pins and needles"" sensations. Some may also experience pain. Speech impediments, tremors, and dizziness are other frequent complaints. Occasionally, people with MS have hearing loss. Approximately half of all people with MS experience cognitive impairments such as difficulties with concentration, attention, memory, and poor judgment, but such symptoms are usually mild and are frequently overlooked. Depression is another common feature of MS.",Multiple Sclerosis,0000202,NINDS,http://www.ninds.nih.gov/disorders/multiple_sclerosis/multiple_sclerosis.htm,C0026769,T047,Disorders What are the treatments for Multiple Sclerosis ?,0000202-2,treatment,"There is as yet no cure for MS. Many patients do well with no therapy at all, especially since many medications have serious side effects and some carry significant risks. However, three forms of beta interferon (Avonex, Betaseron, and Rebif) have now been approved by the Food and Drug Administration for treatment of relapsing-remitting MS. Beta interferon has been shown to reduce the number of exacerbations and may slow the progression of physical disability. When attacks do occur, they tend to be shorter and less severe. The FDA also has approved a synthetic form of myelin basic protein, called copolymer I (Copaxone), for the treatment of relapsing-remitting MS. Copolymer I has few side effects, and studies indicate that the agent can reduce the relapse rate by almost one third. Other FDA approved drugs to treat relapsing forms of MS in adults include teriflunomide and dimethyl fumarate. An immunosuppressant treatment, Novantrone (mitoxantrone), isapproved by the FDA for the treatment of advanced or chronic MS. The FDA has also approved dalfampridine (Ampyra) to improve walking in individuals with MS. One monoclonal antibody, natalizumab (Tysabri), was shown in clinical trials to significantly reduce the frequency of attacks in people with relapsing forms of MS and was approved for marketing by the U.S. Food and Drug Administration (FDA) in 2004. However, in 2005 the drugs manufacturer voluntarily suspended marketing of the drug after several reports of significant adverse events. In 2006, the FDA again approved sale of the drug for MS but under strict treatment guidelines involving infusion centers where patients can be monitored by specially trained physicians. While steroids do not affect the course of MS over time, they can reduce the duration and severity of attacks in some patients. Spasticity, which can occur either as a sustained stiffness caused by increased muscle tone or as spasms that come and go, is usually treated with muscle relaxants and tranquilizers such as baclofen, tizanidine, diazepam, clonazepam, and dantrolene. Physical therapy and exercise can help preserve remaining function, and patients may find that various aids -- such as foot braces, canes, and walkers -- can help them remain independent and mobile. Avoiding excessive activity and avoiding heat are probably the most important measures patients can take to counter physiological fatigue. If psychological symptoms of fatigue such as depression or apathy are evident, antidepressant medications may help. Other drugs that may reduce fatigue in some, but not all, patients include amantadine (Symmetrel), pemoline (Cylert), and the still-experimental drug aminopyridine. Although improvement of optic symptoms usually occurs even without treatment, a short course of treatment with intravenous methylprednisolone (Solu-Medrol) followed by treatment with oral steroids is sometimes used.",Multiple Sclerosis,0000202,NINDS,http://www.ninds.nih.gov/disorders/multiple_sclerosis/multiple_sclerosis.htm,C0026769,T047,Disorders What is the outlook for Multiple Sclerosis ?,0000202-3,outlook,"A physician may diagnose MS in some patients soon after the onset of the illness. In others, however, doctors may not be able to readily identify the cause of the symptoms, leading to years of uncertainty and multiple diagnoses punctuated by baffling symptoms that mysteriously wax and wane. The vast majority of patients are mildly affected, but in the worst cases, MS can render a person unable to write, speak, or walk. MS is a disease with a natural tendency to remit spontaneously, for which there is no universally effective treatment.",Multiple Sclerosis,0000202,NINDS,http://www.ninds.nih.gov/disorders/multiple_sclerosis/multiple_sclerosis.htm,C0026769,T047,Disorders what research (or clinical trials) is being done for Multiple Sclerosis ?,0000202-4,research,"The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research in laboratories at the NIH and also support additional research through grants to major medical institutions across the country. Scientists continue their extensive efforts to create new and better therapies for MS. One of the most promising MS research areas involves naturally occurring antiviral proteins known as interferons. Beta interferon has been shown to reduce the number of exacerbations and may slow the progression of physical disability. When attacks do occur, they tend to be shorter and less severe. In addition, there are a number of treatments under investigation that may curtail attacks or improve function. Over a dozen clinical trials testing potential therapies are underway, and additional new treatments are being devised and tested in animal models. In 2001, the National Academies/Institute of Medicine, a Federal technical and scientific advisory agency, prepared a strategic review of MS research. To read or download the National Academies/Institute of Medicine report, go to: ""Multiple Sclerosis: Current Status and Strategies for the Future.""",Multiple Sclerosis,0000202,NINDS,http://www.ninds.nih.gov/disorders/multiple_sclerosis/multiple_sclerosis.htm,C0026769,T047,Disorders What is (are) Multiple System Atrophy ?,0000203-1,information,"Multiple system atrophy (MSA) is a progressive neurodegenerative disorder characterized by symptoms of autonomic nervous system failure such as fainting spells and bladder control problems, combined with motor control symptoms such as tremor, rigidity, and loss of muscle coordination. MSA affects both men and women primarily in their 50s. Although what causes MSA is unknown, the disorder's symptoms reflect the loss of nerve cells in several different areas in the brain and spinal cord that control the autonomic nervous system and coordinate muscle movements. The loss of nerve cells may be due to the buildup of a protein called alpha-synuclein in the cells that support nerve cells in the brain.",Multiple System Atrophy,0000203,NINDS,http://www.ninds.nih.gov/disorders/msa/msa.htm,C0393571,T047,Disorders What are the treatments for Multiple System Atrophy ?,0000203-2,treatment,"There is no cure for MSA. Currently, there are no treatments to delay the progress of neurodegeneration in the brain. But there are treatments available to help people cope with some of the more disabling symptoms of MSA. In some individuals, levodopa may improve motor function, but the benefit may not continue as the disease progresses.",Multiple System Atrophy,0000203,NINDS,http://www.ninds.nih.gov/disorders/msa/msa.htm,C0393571,T047,Disorders What is the outlook for Multiple System Atrophy ?,0000203-3,outlook,"The disease tends to advance rapidly over the course of 5 to 10 years, with progressive loss of motor skills, eventual confinement to bed, and death. There is no remission from the disease. There is currently no cure.",Multiple System Atrophy,0000203,NINDS,http://www.ninds.nih.gov/disorders/msa/msa.htm,C0393571,T047,Disorders what research (or clinical trials) is being done for Multiple System Atrophy ?,0000203-4,research,"The NINDS supports research about MSA through grants to major medical institutions across the country. Researchers hope to learn why alpha-synuclein buildup occurs in MSA and Parkinsons disease, and how to prevent it. Drugs that reduce the abnormal alpha-synuclein buildup may be promising treatments for MSA",Multiple System Atrophy,0000203,NINDS,http://www.ninds.nih.gov/disorders/msa/msa.htm,C0393571,T047,Disorders What is (are) Multiple System Atrophy with Orthostatic Hypotension ?,0000204-1,information,"Multiple system atrophy with orthostatic hypotension is the current classification for a neurological disorder that was once called Shy-Drager syndrome. A progressive disorder of the central and autonomic nervous systems, it is characterized by orthostatic hypotension (an excessive drop in blood pressure when standing up) which causes dizziness or fainting. Multiple system atrophy can occur without orthostatic hypotension, but instead have urinary involvement (urgency/incontinence). Doctors classify the disorder into 3 types: the Parkinsonian-type includes symptoms of Parkinson's disease such as slow movement, stiff muscles, and tremor; the cerebellar-type, which causes problems with coordination and speech; and the combined-type, which includes symptoms of both parkinsonism and cerebellar failure. Problems with urinary incontinence, constipation, and sexual impotence in men happen early in the course of the disease. Other symptoms include generalized weakness, double vision or other vision disturbances, difficulty breathing and swallowing, sleep disturbances, and decreased sweating. Because the disease resembles others, a correct diagnosis may take years.",Multiple System Atrophy with Orthostatic Hypotension,0000204,NINDS,http://www.ninds.nih.gov/disorders/msa_orthostatic_hypotension/msa_orthostatic_hypotension.htm,C0393571,T047,Disorders What are the treatments for Multiple System Atrophy with Orthostatic Hypotension ?,0000204-2,treatment,"There is no cure for multiple system atrophy with orthostatic hypotension. Treatment is aimed at controlling symptoms. Anti-Parkinson medication such as Sinemet may improve the general sense of well-being. Medications to elevate blood pressure while standing are often used, but may cause high blood pressure when lying down. Individuals should sleep with the head of the bed elevated. An artificial feeding tube or breathing tube may be required for problems with swallowing and breathing.",Multiple System Atrophy with Orthostatic Hypotension,0000204,NINDS,http://www.ninds.nih.gov/disorders/msa_orthostatic_hypotension/msa_orthostatic_hypotension.htm,C0393571,T047,Disorders What is the outlook for Multiple System Atrophy with Orthostatic Hypotension ?,0000204-3,outlook,Most individuals with multiple system atrophy with orthostatic hypotension die within 7 to 10 years after the onset of symptoms. A problem with the respiratory system is the most common cause of death.,Multiple System Atrophy with Orthostatic Hypotension,0000204,NINDS,http://www.ninds.nih.gov/disorders/msa_orthostatic_hypotension/msa_orthostatic_hypotension.htm,C0393571,T047,Disorders what research (or clinical trials) is being done for Multiple System Atrophy with Orthostatic Hypotension ?,0000204-4,research,"The NINDS supports research on disorders of the autonomic nervous system, including multiple system atrophy with orthostatic hypotension. This research is aimed at developing techniques to diagnose, treat, and prevent these disorders. Currently there are ongoing treatment trials of drugs to treat MSA.",Multiple System Atrophy with Orthostatic Hypotension,0000204,NINDS,http://www.ninds.nih.gov/disorders/msa_orthostatic_hypotension/msa_orthostatic_hypotension.htm,C0393571,T047,Disorders What is (are) Muscular Dystrophy ?,0000205-1,information,"The muscular dystrophies (MD) are a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in infancy or childhood, while others may not appear until middle age or later. The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance. Duchenne MD is the most common form of MD and primarily affects boys. It is caused by the absence of dystrophin, a protein involved in maintaining the integrity of muscle. Onset is between 3 and 5 years and the disorder progresses rapidly. Most boys are unable to walk by age 12, and later need a respirator to breathe. Girls in these families have a 50 percent chance of inheriting and passing the defective gene to their children. Boys with Becker MD (very similar to but less severe than Duchenne MD) have faulty or not enough dystrophin. Facioscapulohumeral MD usually begins in the teenage years. It causes progressive weakness in muscles of the face, arms, legs, and around the shoulders and chest. It progresses slowly and can vary in symptoms from mild to disabling. Myotonic MD is the disorder's most common adult form and is typified by prolonged muscle spasms, cataracts, cardiac abnormalities, and endocrine disturbances. Individuals with myotonic MD have long, thin faces, drooping eyelids, and a swan-like neck.",Muscular Dystrophy,0000205,NINDS,http://www.ninds.nih.gov/disorders/md/md.htm,C0026850,T019,Disorders What are the treatments for Muscular Dystrophy ?,0000205-2,treatment,"There is no specific treatment to stop or reverse any form of MD. Treatment may include physical therapy, respiratory therapy, speech therapy, orthopedic appliances used for support, and corrective orthopedic surgery. Drug therapy includes corticosteroids to slow muscle degeneration, anticonvulsants to control seizures and some muscle activity, immunosuppressants to delay some damage to dying muscle cells, and antibiotics to fight respiratory infections. Some individuals may benefit from occupational therapy and assistive technology. Some patients may need assisted ventilation to treat respiratory muscle weakness and a pacemaker for cardiac abnormalities.",Muscular Dystrophy,0000205,NINDS,http://www.ninds.nih.gov/disorders/md/md.htm,C0026850,T019,Disorders What is the outlook for Muscular Dystrophy ?,0000205-3,outlook,"The prognosis for people with MD varies according to the type and progression of the disorder. Some cases may be mild and progress very slowly over a normal lifespan, while others produce severe muscle weakness, functional disability, and loss of the ability to walk. Some children with MD die in infancy while others live into adulthood with only moderate disability.",Muscular Dystrophy,0000205,NINDS,http://www.ninds.nih.gov/disorders/md/md.htm,C0026850,T019,Disorders what research (or clinical trials) is being done for Muscular Dystrophy ?,0000205-4,research,"The NINDS supports a broad program of research studies on MD. The goals of these studies are to understand MD and to develop techniques to diagnose, treat, prevent, and ultimately cure the disorder. The NINDS is a member of the Muscular Dystrophy Coordinating Committee (MDCC). For additional information, please visit: http://www.ninds.nih.gov/about_ninds/groups/mdcc/",Muscular Dystrophy,0000205,NINDS,http://www.ninds.nih.gov/disorders/md/md.htm,C0026850,T019,Disorders What is (are) Myasthenia Gravis ?,0000206-1,information,"Myasthenia gravis is a chronic autoimmune neuromuscular disease characterized by varying degrees of weakness of the skeletal (voluntary) muscles of the body. Symptoms vary in type and intensity. The hallmark of myasthenia gravis is muscle weakness that increases during periods of activity and improves after periods of rest. Muscles that control eye and eyelid movements, facial expression, chewing, talking, and swallowing are often, but not always, involved. The muscles that control breathing and neck and limb movements may also be affected. Myasthenia gravis is caused by a defect in the transmission of nerve impulses to muscles. Normally when impulses travel down the nerve, the nerve endings release a neurotransmitter substance called acetylcholine. In myasthenia gravis, antibodies produced by the body's own immune system block, alter, or destroy the receptors for acetylcholine. The first noticeable symptoms of myasthenia gravis may be weakness of the eye muscles, difficulty in swallowing, or slurred speech. Myasthenia gravis is an autoimmune disease because the immune system--which normally protects the body from foreign organisms--mistakenly attacks itself.. It is not directly inherited nor is it contagious.",Myasthenia Gravis,0000206,NINDS,http://www.ninds.nih.gov/disorders/myasthenia_gravis/myasthenia_gravis.htm,C0026896,T047,Disorders What are the treatments for Myasthenia Gravis ?,0000206-2,treatment,"Myasthenia gravis can be controlled. Some medications improve neuromuscular transmission and increase muscle strength, and some suppress the production of abnormal antibodies. These medications must be used with careful medical follow up because they may cause major side effects. Thymectomy, the surgical removal of the thymus gland (which often is abnormal in those with myasthenia gravis), improves symptoms in certain individuals Other therapies include plasmapheresis, a procedure in which abnormal antibodies are removed from the blood, and high-dose intravenous immune globulin, which temporarily modifies the immune system and provides the body with normal antibodies from donated blood.",Myasthenia Gravis,0000206,NINDS,http://www.ninds.nih.gov/disorders/myasthenia_gravis/myasthenia_gravis.htm,C0026896,T047,Disorders What is the outlook for Myasthenia Gravis ?,0000206-3,outlook,"With treatment, most individuals with myasthenia can significantly improve their muscle weakness. Some case of myasthenia gravis may go into remission temporarily, and muscle weakness may disappear so that medications can be discontinued. In a few cases, the severe weakness of myasthenia gravis may cause respiratory failure, which requires immediate emergency medical care.",Myasthenia Gravis,0000206,NINDS,http://www.ninds.nih.gov/disorders/myasthenia_gravis/myasthenia_gravis.htm,C0026896,T047,Disorders what research (or clinical trials) is being done for Myasthenia Gravis ?,0000206-4,research,"Scientists are evaluating new and improving current treatments for myasthenia gravis. Different drugs are being tested, either alone or in combination with existing drug therapies, to see if they are effective in treating the disorder. One study seeks to understand the molecular basis of synaptic transmission in the nervous system. Thymectomy is being studied in individuals who do not have thymoma, to assess long-term benefit the surgery may have over medical therapy alone. And investigators are examining the safety and efficacy of autologous hematopoietic stem cell transplantation to treat refractory and severe myasthenia gravis.",Myasthenia Gravis,0000206,NINDS,http://www.ninds.nih.gov/disorders/myasthenia_gravis/myasthenia_gravis.htm,C0026896,T047,Disorders What is (are) Myoclonus ?,0000207-1,information,"Myoclonus refers to a sudden, involuntary jerking of a muscle or group of muscles. In its simplest form, myoclonus consists of a muscle twitch followed by relaxation. A hiccup is an example of this type of myoclonus. Other familiar examples of myoclonus are the jerks or ""sleep starts"" that some people experience while drifting off to sleep. These simple forms of myoclonus occur in normal, healthy persons and cause no difficulties. When more widespread, myoclonus may involve persistent, shock-like contractions in a group of muscles. Myoclonic jerking may develop in people with multiple sclerosis, Parkinson's disease, Alzheimer's disease, or Creutzfeldt-Jakob disease. Myoclonic jerks commonly occur in persons with epilepsy, a disorder in which the electrical activity in the brain becomes disordered and leads to seizures. Myoclonus may develop in response to infection, head or spinal cord injury, stroke, brain tumors, kidney or liver failure, lipid storage disease, chemical or drug poisoning, or other disorders. It can occur by itself, but most often it is one of several symptoms associated with a wide variety of nervous system disorders.",Myoclonus,0000207,NINDS,http://www.ninds.nih.gov/disorders/myoclonus/myoclonus.htm,C0027066,T184,Disorders What are the treatments for Myoclonus ?,0000207-2,treatment,"Treatment of myoclonus focuses on medications that may help reduce symptoms. The drug of first choice is clonazepam, a type of tranquilizer. Many of the drugs used for myoclonus, such as barbiturates, phenytoin, and primidone, are also used to treat epilepsy. Sodium valproate is an alternative therapy for myoclonus and can be used either alone or in combination with clonazepam. Myoclonus may require the use of multiple drugs for effective treatment.",Myoclonus,0000207,NINDS,http://www.ninds.nih.gov/disorders/myoclonus/myoclonus.htm,C0027066,T184,Disorders What is the outlook for Myoclonus ?,0000207-3,outlook,"Simple forms of myoclonus occur in normal, healthy persons and cause no difficulties. In some cases, myoclonus begins in one region of the body and spreads to muscles in other areas. More severe cases of myoclonus can distort movement and severely limit a person's ability to eat, talk, or walk. These types of myoclonus may indicate an underlying disorder in the brain or nerves. Although clonazepam and sodium valproate are effective in the majority of people with myoclonus, some people have adverse reactions to these drugs. The beneficial effects of clonazepam may diminish over time if the individual develops a tolerance for the drug.",Myoclonus,0000207,NINDS,http://www.ninds.nih.gov/disorders/myoclonus/myoclonus.htm,C0027066,T184,Disorders what research (or clinical trials) is being done for Myoclonus ?,0000207-4,research,"The National Institute of Neurological Disorders and Stroke (NINDS) conducts research relating to myoclonus in its laboratories at the National Institutes of Health (NIH) and also supports additional research through grants to major medical institutions across the country. Scientists are seeking to understand the underlying biochemical basis of involuntary movements and to find the most effective treatment for myoclonus and other movement disorders. Researchers may be able to develop drug treatments that target specific biochemical changes involved in myoclonus. By combining several of these drugs, scientists hope to achieve greater control of myoclonic symptoms.",Myoclonus,0000207,NINDS,http://www.ninds.nih.gov/disorders/myoclonus/myoclonus.htm,C0027066,T184,Disorders What is (are) Myopathy ?,0000208-1,information,"The myopathies are neuromuscular disorders in which the primary symptom is muscle weakness due to dysfunction of muscle fiber. Other symptoms of myopathy can include include muscle cramps, stiffness, and spasm. Myopathies can be inherited (such as the muscular dystrophies) or acquired (such as common muscle cramps). Myopathies are grouped as follows: congenital myopathies: characterized by developmental delays in motor skills; skeletal and facial abnormalities are occasionally evident at birth muscular dystrophies: characterized by progressive weakness in voluntary muscles; sometimes evident at birth mitochondrial myopathies: caused by genetic abnormalities in mitochondria, cellular structures that control energy; include Kearns-Sayre syndrome, MELAS and MERRF glycogen storage diseases of muscle: caused by mutations in genes controlling enzymes that metabolize glycogen and glucose (blood sugar); include Pompe's, Andersen's and Cori's diseases myoglobinurias: caused by disorders in the metabolism of a fuel (myoglobin) necessary for muscle work; include McArdle, Tarui, and DiMauro diseases dermatomyositis: an inflammatory myopathy of skin and muscle myositis ossificans: characterized by bone growing in muscle tissue familial periodic paralysis: characterized by episodes of weakness in the arms and legs polymyositis, inclusion body myositis, and related myopathies: inflammatory myopathies of skeletal muscle neuromyotonia: characterized by alternating episodes of twitching and stiffness; and stiff-man syndrome: characterized by episodes of rigidity and reflex spasms common muscle cramps and stiffness, and tetany: characterized by prolonged spasms of the arms and legs",Myopathy,0000208,NINDS,http://www.ninds.nih.gov/disorders/myopathy/myopathy.htm,C0026848,T047,Disorders What are the treatments for Myopathy ?,0000208-2,treatment,"Treatments for the myopathies depend on the disease or condition and specific causes. Supportive and symptomatic treatment may be the only treatment available or necessary for some disorders. Treatment for other disorders may include drug therapy, such as immunosuppressives, physical therapy, bracing to support weakened muscles, and surgery.",Myopathy,0000208,NINDS,http://www.ninds.nih.gov/disorders/myopathy/myopathy.htm,C0026848,T047,Disorders What is the outlook for Myopathy ?,0000208-3,outlook,"The prognosis for individuals with a myopathy varies. Some individuals have a normal life span and little or no disability. For others, however, the disorder may be progressive, severely disabling, life-threatening, or fatal.",Myopathy,0000208,NINDS,http://www.ninds.nih.gov/disorders/myopathy/myopathy.htm,C0026848,T047,Disorders what research (or clinical trials) is being done for Myopathy ?,0000208-4,research,"The NINDS supports and conducts an extensive research program on neuromuscular disorders such as the myopathies. Much of this research is aimed at increasing scientific understanding of these disorders, and finding ways to prevent, treat, and cure them.",Myopathy,0000208,NINDS,http://www.ninds.nih.gov/disorders/myopathy/myopathy.htm,C0026848,T047,Disorders What is (are) Thyrotoxic Myopathy ?,0000209-1,information,"Thyrotoxic myopathy is a neuromuscular disorder that may accompany hyperthyroidism (Graves' disease, caused by overproduction of the thyroid hormone thyroxine). Symptoms may include muscle weakness, myalgias (muscle tenderness), wasting of the pelvic girdle and shoulder muscles, fatigue, and/or heat intolerance. Thyroid myopathy may be associated with rhabdomyolysis (acute muscle breakdown), damage to the muscles that control eye movement, and temporary, but severe, attacks of muscle weakness that are associated with low blood potassium levels (known as periodic paralysis).",Thyrotoxic Myopathy,0000209,NINDS,http://www.ninds.nih.gov/disorders/thyrotoxic_myopathy/thyrotoxic_myopathy.htm,C0270986,T047,Disorders What are the treatments for Thyrotoxic Myopathy ?,0000209-2,treatment,"Treatment involves restoring normal levels of thyroid hormone and may include thyroid drugs, radioactive iodine, and sometimes partial or complete surgical removal of the thyroid.",Thyrotoxic Myopathy,0000209,NINDS,http://www.ninds.nih.gov/disorders/thyrotoxic_myopathy/thyrotoxic_myopathy.htm,C0270986,T047,Disorders What is the outlook for Thyrotoxic Myopathy ?,0000209-3,outlook,"With treatment, muscle weakness may improve or be reversed.",Thyrotoxic Myopathy,0000209,NINDS,http://www.ninds.nih.gov/disorders/thyrotoxic_myopathy/thyrotoxic_myopathy.htm,C0270986,T047,Disorders what research (or clinical trials) is being done for Thyrotoxic Myopathy ?,0000209-4,research,The NINDS supports a broad range of research on neuromuscular disorders such as thyrotoxic myopathy. Much of this research is aimed at learning more about these disorders and finding ways to prevent and treat them.,Thyrotoxic Myopathy,0000209,NINDS,http://www.ninds.nih.gov/disorders/thyrotoxic_myopathy/thyrotoxic_myopathy.htm,C0270986,T047,Disorders What is (are) Myotonia ?,0000210-1,information,"Myotonia is a medical term that refers to a neuromuscular condition in which the relaxation of a muscle is impaired. It can affect any muscle group. Repeated effort will be needed to relax the muscle, although the condition usually improves after the muscles have warmed-up. Individuals with myotonia may have trouble releasing their grip on objects or may have difficulty rising from a seated position. They may walk with a stiff, awkward gait. Myotonia is caused by an abnormality in the muscle membrane, and is often associated with inherited neurological disorders. Myotonia is commonly seen in individuals with myotonic muscular dystrophy, myotonia congenita, and in people who have one of a group of neurological disorders called the channelopathies, which are inherited diseases that are caused by mutations in the chloride sodium or potassium channels that regulate the muscle membrane. Myotonia may also be triggered by exposure to cold.",Myotonia,0000210,NINDS,http://www.ninds.nih.gov/disorders/myotonia/myotonia.htm,C0027125,T033,Disorders What are the treatments for Myotonia ?,0000210-2,treatment,"Treatment for myotonia may include mexiletine, quinine, phenytoin, and other anticonvulsant drugs. Physical therapy and other rehabilitative measures may help muscle function.",Myotonia,0000210,NINDS,http://www.ninds.nih.gov/disorders/myotonia/myotonia.htm,C0027125,T033,Disorders What is the outlook for Myotonia ?,0000210-3,outlook,Myotonia is a chronic disorder. Symptoms may improve later in life.,Myotonia,0000210,NINDS,http://www.ninds.nih.gov/disorders/myotonia/myotonia.htm,C0027125,T033,Disorders what research (or clinical trials) is being done for Myotonia ?,0000210-4,research,"The National Institute of Neurological Disorders and Stroke supports and conducts an extensive research program on neuromuscular disorders. The goals of this research are to learn more about these disorders and to find ways to treat, prevent, and cure them.",Myotonia,0000210,NINDS,http://www.ninds.nih.gov/disorders/myotonia/myotonia.htm,C0027125,T033,Disorders What is (are) Narcolepsy ?,0000211-1,information,"Narcolepsy is a chronic neurological disorder caused by the brain's inability to regulate sleep-wake cycles normally. At various times throughout the day, people with narcolepsy experience irresistable bouts ofsleep. If the urge becomes overwhelming, individuals will fall asleep for periods lasting from a few seconds to several minutes. In rare cases, some people may remain asleep for an hour or longer. In addition to excessive daytime sleepiness (EDS), three other major symptoms frequently characterize narcolepsy: cataplexy, or the sudden loss of voluntary muscle tone; vivid hallucinations during sleep onset or upon awakening; and brief episodes of total paralysis at the beginning or end of sleep. Narcolepsy is not definitively diagnosed in most patients until 10 to 15 years after the first symptoms appear. The cause of narcolepsy remains unknown. It is likely that narcolepsy involves multiple factors interacting to cause neurological dysfunction and sleep disturbances.",Narcolepsy,0000211,NINDS,http://www.ninds.nih.gov/disorders/narcolepsy/narcolepsy.htm,C0027404,T047,Disorders What are the treatments for Narcolepsy ?,0000211-2,treatment,"There is no cure for narcolepsy. In 1999, after successful clinical trial results, the U.S. Food and Drug Administration (FDA) approved a drug called modafinil for the treatment of EDS. Two classes of antidepressant drugs have proved effective in controlling cataplexy in many patients: tricyclics (including imipramine, desipramine, clomipramine, and protriptyline) and selective serotonin reuptake inhibitors (including fluoxetine and sertraline). Drug therapy should be supplemented by behavioral strategies. For example, many people with narcolepsy take short, regularly scheduled naps at times when they tend to feel sleepiest. Improving the quality of nighttime sleep can combat EDS and help relieve persistent feelings of fatigue. Among the most important common-sense measures people with narcolepsy can take to enhance sleep quality are actions such as maintaining a regular sleep schedule, and avoiding alcohol and caffeine-containing beverages before bedtime. The drug Xyrem (sodium oxybate or gamma hydroxybutyrate, also known as GHB) was approved in July 2002 for treating cataplexy and in November 2005 for EDS in people who have narcolepsy. Due to safety concerns associated with the use of this drug, the distribution of Xyrem is tightly restricted.",Narcolepsy,0000211,NINDS,http://www.ninds.nih.gov/disorders/narcolepsy/narcolepsy.htm,C0027404,T047,Disorders What is the outlook for Narcolepsy ?,0000211-3,outlook,"None of the currently available medications enables people with narcolepsy to consistently maintain a fully normal state of alertness. But EDS and cataplexy, the most disabling symptoms of the disorder, can be controlled in most patients with drug treatment. Often the treatment regimen is modified as symptoms change. Whatever the age of onset, patients find that the symptoms tend to get worse over the two to three decades after the first symptoms appear. Many older patients find that some daytime symptoms decrease in severity after age 60.",Narcolepsy,0000211,NINDS,http://www.ninds.nih.gov/disorders/narcolepsy/narcolepsy.htm,C0027404,T047,Disorders what research (or clinical trials) is being done for Narcolepsy ?,0000211-4,research,"The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research into narcolepsy and other sleep disorders in laboratories at the NIH and also support additional research through grants to major medical institutions across the country. The NINDS continues to support investigations into the basic biology of sleep, including the brain mechanisms involved in generating and regulating sleep. Within the National Heart, Lung, and Blood Institute, also a component of the NIH, the National Center on Sleep Disorders Research (NCSDR) coordinates Federal government sleep research activities and shares information with private and nonprofit groups.",Narcolepsy,0000211,NINDS,http://www.ninds.nih.gov/disorders/narcolepsy/narcolepsy.htm,C0027404,T047,Disorders What is (are) Neurofibromatosis ?,0000212-1,information,"The neurofibromatoses are genetic disorders that cause tumors to grow in the nervous system. The tumors begin in the supporting cells that make up the nerves and the myelin sheath--the thin membrane that envelops and protects the nerves. These disorders cause tumors to grow on nerves and, less frequently, in the brain and spinal cord, and produce other abnormalities such as skin changes and bone deformities. Although many affected persons inherit the disorder, between 30 and 50 percent of new cases arise spontaneously through mutation (change) in an individual's genes. Once this change has taken place, the mutant gene can be passed on to succeeding generations. There are three forms of neurofibromatosis (NF): - NF1 is the more common type of the disorder. Symptoms of NF1, which may be evident at birth and nearly always by the time the child is 10 years old, may include light brown spots on the skin (""cafe-au-lait"" spots), two or more growths on the iris of the eye, a tumor on the optic nerve, a larger than normal head circumference, and abnormal development of the spine, a skull bone, or the tibia. - NF2 is less common and is characterized by slow-growing tumors on the vestibular branch of the right and left eighth cranial nerves, which are called vestibular schwannomas or acoustic neuromas.. The tumors press on and damage neighboring nerves and reduce hearing. - The distinctive feature of schwannomatosis is the development of multiple schwannomas (tumors made up of certain cells) everywhere in the body except on the vestibular branch of the 8th cranial nerve. The dominant symptom is pain, which develops as a schwannoma enlarges or compresses nerves or adjacent tissue. Some people may develop numbness, tingling, or weakness in the fingers and toes.",Neurofibromatosis,0000212,NINDS,http://www.ninds.nih.gov/disorders/neurofibromatosis/neurofibromatosis.htm,C0162678,T191,Disorders What are the treatments for Neurofibromatosis ?,0000212-2,treatment,"Treatment may include surgery, focused radiation, or chemotherapy. Surgery to remove NF2 tumors completely is one option. Surgery for vestibular schwannomas does not restore hearing and usually reduces hearing. Sometimes surgery is not performed until functional hearing is lost completely. Surgery may result in damage to the facial nerve and some degree of facial paralysis. Focused radiation of vestibular schwannoma carries of a lower risk of facial paralysis than open surgery, but is more effective o shrinking small to moderate tumors than larger tumors. Chemotherapy with a drug that targets the blood vessels of vestibular schwannoma can reduce the size of the tumor and improves hearing, but some tumors do not respond at all and sometimes respond only temporarily. Bone malformations can often be corrected surgically, and surgery can also correct cataracts and retinal abnormalities. Pain usually subsides when tumors are removed completely.",Neurofibromatosis,0000212,NINDS,http://www.ninds.nih.gov/disorders/neurofibromatosis/neurofibromatosis.htm,C0162678,T191,Disorders What is the outlook for Neurofibromatosis ?,0000212-3,outlook,"In most cases, symptoms of NF1 are mild, and individuals live normal and productive lives. In some cases, however, NF1 can be severely debilitating and may cause cosmetic and psychological issues. The course of NF2 varies greatly among individuals. Loss of hearing in both ears develops in most individuals with NF2. In some cases of NF2, the damage to nearby vital structures, such as other cranial nerves and the brain stem, can be life-threatening. Most individuals with schwannomatosis have significant pain. In some extreme cases the pain will be severe and disabling.",Neurofibromatosis,0000212,NINDS,http://www.ninds.nih.gov/disorders/neurofibromatosis/neurofibromatosis.htm,C0162678,T191,Disorders what research (or clinical trials) is being done for Neurofibromatosis ?,0000212-4,research,"The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. NINDS researchers are working to identify signaling pathways in the nervous system, with the hope of eventually developing drugs and techniques to help diagnose and treat NF. Understanding the natural history of tumors in NF and determining possible factors that may regulate their growth patterns is another aim of NIH researchers Ongoing research continues to discover additional genes that appear to play a role in NF-related tumor suppression or growth Continuing research on these genes and their proteins is beginning to reveal how this novel family of growth regulators controls how and where tumors form and grow Researchers also hope to develop new and more effective treatments for neurofibromatosis. Several agents have been tested or are under investigation for NF2, including the monoclonal antibody, bevacizumab, which improves hearing in some individuals with NF2.Because schwannomas are particularly hard to treat tumors, NINDS researchers are developing a new treatment option, which uses a virus to kill tumor cells. Additional NINDS-funded researchers are testing novel radiation and chemotherapy regimens for NF1-related malignant tumors of the peripheral nerves.",Neurofibromatosis,0000212,NINDS,http://www.ninds.nih.gov/disorders/neurofibromatosis/neurofibromatosis.htm,C0162678,T191,Disorders What is (are) Neuroleptic Malignant Syndrome ?,0000213-1,information,"Neuroleptic malignant syndrome is a life-threatening, neurological disorder most often caused by an adverse reaction to neuroleptic or antipsychotic drugs. Symptoms include high fever, sweating, unstable blood pressure, stupor, muscular rigidity, and autonomic dysfunction. In most cases, the disorder develops within the first 2 weeks of treatment with the drug; however, the disorder may develop any time during the therapy period. The syndrome can also occur in people taking anti-Parkinsonism drugs known as dopaminergics if those drugs are discontinued abruptly.",Neuroleptic Malignant Syndrome,0000213,NINDS,http://www.ninds.nih.gov/disorders/neuroleptic_syndrome/neuroleptic_syndrome.htm,C0027849,T047,Disorders What are the treatments for Neuroleptic Malignant Syndrome ?,0000213-2,treatment,"Generally, intensive care is needed. The neuroleptic or antipsychotic drug is discontinued, and the fever is treated aggressively. A muscle relaxant may be prescribed. Dopaminergic drugs, such as a dopamine agonist, have been reported to be useful.",Neuroleptic Malignant Syndrome,0000213,NINDS,http://www.ninds.nih.gov/disorders/neuroleptic_syndrome/neuroleptic_syndrome.htm,C0027849,T047,Disorders What is the outlook for Neuroleptic Malignant Syndrome ?,0000213-3,outlook,"Early identification of and treatment for individuals with neuroleptic malignant syndrome improves outcome. If clinically indicated, a low potency neuroleptic can be reintroduced very slowly when the individual recovers, although there is a risk that the syndrome might recur. Another alternative is to substitute another class of drugs for the neuroleptic. Anesthesia may be a risk to individuals who have experienced neuroleptic malignant syndrome.",Neuroleptic Malignant Syndrome,0000213,NINDS,http://www.ninds.nih.gov/disorders/neuroleptic_syndrome/neuroleptic_syndrome.htm,C0027849,T047,Disorders what research (or clinical trials) is being done for Neuroleptic Malignant Syndrome ?,0000213-4,research,The NINDS supports research on neurological disorders such as neuroleptic malignant syndrome. Much of this research focuses on finding ways to prevent and treat the disorder.,Neuroleptic Malignant Syndrome,0000213,NINDS,http://www.ninds.nih.gov/disorders/neuroleptic_syndrome/neuroleptic_syndrome.htm,C0027849,T047,Disorders What is (are) Neuronal Migration Disorders ?,0000214-1,information,"Neuronal migration disorders (NMDs) are a group of birth defects caused by the abnormal migration of neurons in the developing brain and nervous system. In the developing brain, neurons must migrate from the areas where they are born to the areas where they will settle into their proper neural circuits. Neuronal migration, which occurs as early as the second month of gestation, is controlled by a complex assortment of chemical guides and signals. When these signals are absent or incorrect, neurons do not end up where they belong. This can result in structurally abnormal or missing areas of the brain in the cerebral hemispheres, cerebellum, brainstem, or hippocampus. The structural abnormalities found in NMDs include schizencephaly, porencephaly, lissencephaly, agyria, macrogyria, polymicrogyria, pachygyria, microgyria, micropolygyria, neuronal heterotopias (including band heterotopia), agenesis of the corpus callosum, and agenesis of the cranial nerves. Symptoms vary according to the abnormality, but often feature poor muscle tone and motor function, seizures, developmental delays, impaired cognitive development, failure to grow and thrive, difficulties with feeding, swelling in the extremities, and a smaller than normal head. Most infants with an NMD appear normal, but some disorders have characteristic facial or skull features that can be recognized by a neurologist. Several genetic abnormalities in children with NMDs have been identified. Defects in genes that are involved in neuronal migration have been associated with NMDs, but the role they play in the development of these disorders is not yet well-understood. More than 25 syndromes resulting from abnormal neuronal migration have been described. Among them are syndromes with several different patterns of inheritance; genetic counseling thus differs greatly between syndromes.",Neuronal Migration Disorders,0000214,NINDS,http://www.ninds.nih.gov/disorders/neuronal_migration/neuronal_migration.htm,C1837249,T047,Disorders What are the treatments for Neuronal Migration Disorders ?,0000214-2,treatment,"Treatment is symptomatic, and may include anti-seizure medication and special or supplemental education consisting of physical, occupational, and speech therapies.",Neuronal Migration Disorders,0000214,NINDS,http://www.ninds.nih.gov/disorders/neuronal_migration/neuronal_migration.htm,C1837249,T047,Disorders What is the outlook for Neuronal Migration Disorders ?,0000214-3,outlook,The prognosis for children with NMDs varies depending on the specific disorder and the degree of brain abnormality and subsequent neurological signs and symptoms.,Neuronal Migration Disorders,0000214,NINDS,http://www.ninds.nih.gov/disorders/neuronal_migration/neuronal_migration.htm,C1837249,T047,Disorders what research (or clinical trials) is being done for Neuronal Migration Disorders ?,0000214-4,research,The NINDS conducts and supports a wide range of studies that explore the complex systems of brain development. These studies include the identification of the mechanism of action of the known causes of NMD as well as studies to identify further causes of disease. NIH-funded researchers work closely with parental support groups to bring research discoveries directly to patients. The knowledge gained from these studies provides the foundation for understanding abnormal development and offers hope for new ways to treat and prevent NMDs.,Neuronal Migration Disorders,0000214,NINDS,http://www.ninds.nih.gov/disorders/neuronal_migration/neuronal_migration.htm,C1837249,T047,Disorders What is (are) Neurosarcoidosis ?,0000215-1,information,"Neurosarcoidosis is a manifestation of sarcoidosis in the nervous system. Sarcoidosis is a chronic inflammatory disorder that typically occurs in adults between 20 and 40 years of age and primarily affects the lungs, but can also impact almost every other organ and system in the body. Neurosarcoidosis is characterized by inflammation and abnormal cell deposits in any part of the nervous system the brain, spinal cord, or peripheral nerves. It most commonly occurs in the cranial and facial nerves, the hypothalamus (a specific area of the brain), and the pituitary gland. It is estimated to develop in 5 to 15 percent of those individuals who have sarcoidosis. Weakness of the facial muscles on one side of the face (Bells palsy) is a common symptom of neurosarcoidosis. The optic and auditory nerves can also become involved, causing vision and hearing impairments. It can cause headache, seizures, memory loss, hallucinations, irritability, agitation, and changes in mood and behavior. Neurosarcoidosis can appear in an acute, explosive fashion or start as a slow chronic illness. Because neurosarcoidosis manifests in many different ways, a diagnosis may be difficult and delayed.",Neurosarcoidosis,0000215,NINDS,http://www.ninds.nih.gov/disorders/neurosarcoidosis/neurosarcoidosis.htm,C0393485,T047,Disorders What are the treatments for Neurosarcoidosis ?,0000215-2,treatment,"There is no agreed upon standard of treatment for neurosarcoidosis. Doctors generally recommend corticosteroid therapy as first-line therapy for individuals with the condition. Additional treatment with immunomodulatory drugs such as hydroxychloroquine, pentoxyfilline, thalidomide, and infliximab, and immunosuppressive drugs such as methotrexate, azathioprine, cyclosporin, and cyclophosphamide, have benefited some individuals. While the use of corticosteroids and other immunosuppressive drugs is effective, these medications also have undesirable side effects. Side effects and experience with certain drugs may play a role in medication choices.",Neurosarcoidosis,0000215,NINDS,http://www.ninds.nih.gov/disorders/neurosarcoidosis/neurosarcoidosis.htm,C0393485,T047,Disorders What is the outlook for Neurosarcoidosis ?,0000215-3,outlook,"The prognosis for patients with neurosarcoidosis varies. Approximately two-thirds of those with the condition will recover completely; the remainder will have a chronically progressing or on-and-off course of illness. Complications resulting from immunosuppressive treatments, such as cryptococcal and tuberculous meningitis, progressive multifocal leukoencephalopathy, and inclusion body myositis, may be fatal for a small percentage of individuals.",Neurosarcoidosis,0000215,NINDS,http://www.ninds.nih.gov/disorders/neurosarcoidosis/neurosarcoidosis.htm,C0393485,T047,Disorders what research (or clinical trials) is being done for Neurosarcoidosis ?,0000215-4,research,"The National Institute of Neurological Disorders and Stroke (NINDS) has joined with other institutes of the National Institutes of Health (NIH) to form a trans-NIH working group to coordinate and fund research into the disease mechanisms of sarcoidosis, predisposing factors, genetic underpinnings, and the potential for clinical therapies. Grants are supporting research at major medical institutions across the country. The outcomes of this research will be better ways to diagnose, treat, and ultimately cure sarcoidosis and neurosarcardoisis.",Neurosarcoidosis,0000215,NINDS,http://www.ninds.nih.gov/disorders/neurosarcoidosis/neurosarcoidosis.htm,C0393485,T047,Disorders What is (are) Neurosyphilis ?,0000216-1,information,"Neurosyphilis is a disease of the coverings of the brain, the brain itself, or the spinal cord. It can occur in people with syphilis, especially if they are left untreated. Neurosyphilis is different from syphilis because it affects the nervous system, while syphilis is a sexually transmitted disease with different signs and symptoms. There are five types of neurosyphilis: - asymptomatic neurosyphilis - meningeal neurosyphilis - meningovascular neurosyphilis - general paresis, and - tabes dorsalis. Asymptomatic neurosyphilis means that neurosyphilis is present, but the individual reports no symptoms and does not feel sick. Meningeal syphilis can occur between the first few weeks to the first few years of getting syphilis. Individuals with meningeal syphilis can have headache, stiff neck, nausea, and vomiting. Sometimes there can also be loss of vision or hearing. Meningovascular syphilis causes the same symptoms as meningeal syphilis but affected individuals also have strokes. This form of neurosyphilis can occur within the first few months to several years after infection. General paresis can occur between 3 30 years after getting syphilis. People with general paresis can have personality or mood changes. Tabes dorsalis is characterized by pains in the limbs or abdomen, failure of muscle coordination, and bladder disturbances. Other signs include vision loss, loss of reflexes and loss of sense of vibration, poor gait, and impaired balance. Tabes dorsalis can occur anywhere from 5 50 years after initial syphilis infection. General paresis and tabes dorsalis are now less common than the other forms of neurosyphilis because of advances made in prevention, screening, and treatment. People with HIV/AIDS are at higher risk of having neurosyphilis.",Neurosyphilis,0000216,NINDS,http://www.ninds.nih.gov/disorders/neurosyphilis/neurosyphilis.htm,C0027927,T047,Disorders What are the treatments for Neurosyphilis ?,0000216-2,treatment,"Penicillin, an antibiotic, is used to treat syphilis. Individuals with neurosyphilis can be treated with penicillin given by vein, or by daily intramuscular injections for 10 14 days. If they are treated with daily penicillin injections, individuals must also take probenecid by mouth four times a day. Some medical professionals recommend another antibiotic called ceftriaxone for neurosyphilis treatment. This drug is usually given daily by vein, but it can also be given by intramuscular injection. Individuals who receive ceftriaxone are also treated for 10 - 14 days. People with HIV/AIDS who get treated for neurosyphilis may have different outcomes than individuals without HIV/AIDS.",Neurosyphilis,0000216,NINDS,http://www.ninds.nih.gov/disorders/neurosyphilis/neurosyphilis.htm,C0027927,T047,Disorders What is the outlook for Neurosyphilis ?,0000216-3,outlook,"Prognosis can change based on the type of neurosyphilis and how early in the course of the disease people with neurosyphilis get diagnosed and treated. Individuals with asymptomatic neurosyphilis or meningeal neurosyphilis usually return to normal health. People with meningovascular syphilis, general paresis, or tabes dorsalis usually do not return to normal health, although they may get much better. Individuals who receive treatment many years after they have been infected have a worse prognosis. Treatment outcome is different for every person.",Neurosyphilis,0000216,NINDS,http://www.ninds.nih.gov/disorders/neurosyphilis/neurosyphilis.htm,C0027927,T047,Disorders what research (or clinical trials) is being done for Neurosyphilis ?,0000216-4,research,"The National Institute of Neurological Disorders and Stroke supports and conducts research on neurodegenerative disorders, such as neurosyphilis, in an effort to find ways to prevent, treat, and ultimately cure these disorders.",Neurosyphilis,0000216,NINDS,http://www.ninds.nih.gov/disorders/neurosyphilis/neurosyphilis.htm,C0027927,T047,Disorders What is (are) Neurotoxicity ?,0000217-1,information,"Neurotoxicity occurs when the exposure to natural or manmade toxic substances (neurotoxicants) alters the normal activity of the nervous system. This can eventually disrupt or even kill neurons, key cells that transmit and process signals in the brain and other parts of the nervous system. Neurotoxicity can result from exposure to substances used in chemotherapy, radiation treatment, drug therapies, and organ transplants, as well as exposure to heavy metals such as lead and mercury, certain foods and food additives, pesticides, industrial and/or cleaning solvents, cosmetics, and some naturally occurring substances. Symptoms may appear immediately after exposure or be delayed. They may include limb weakness or numbness; loss of memory, vision, and/or intellect; headache; cognitive and behavioral problems; and sexual dysfunction. Individuals with certain disorders may be especially vulnerable to neurotoxicants.",Neurotoxicity,0000217,NINDS,http://www.ninds.nih.gov/disorders/neurotoxicity/neurotoxicity.htm,C0235032,T037,Disorders What are the treatments for Neurotoxicity ?,0000217-2,treatment,"Treatment involves eliminating or reducing exposure to the toxic substance, followed by symptomatic and supportive therapy.",Neurotoxicity,0000217,NINDS,http://www.ninds.nih.gov/disorders/neurotoxicity/neurotoxicity.htm,C0235032,T037,Disorders What is the outlook for Neurotoxicity ?,0000217-3,outlook,"The prognosis depends upon the length and degree of exposure and the severity of neurological injury. In some instances, exposure to neurotoxicants can be fatal. In others, patients may survive but not fully recover. In other situations, many individuals recover completely after treatment.",Neurotoxicity,0000217,NINDS,http://www.ninds.nih.gov/disorders/neurotoxicity/neurotoxicity.htm,C0235032,T037,Disorders what research (or clinical trials) is being done for Neurotoxicity ?,0000217-4,research,"The NINDS supports research on disorders of the brain and nervous system such as neurotoxicity, aimed at learning more about these disorders and finding ways to prevent and treat them. Scientists are investigating the role occupational or environmental toxicants have on progressive neurodegenerative disorders such as Parkinson's disease, amyotrophic lateral sclerosis, multiple sclerosis, and dementia. Also being studied are the mechanisms that trigger neuroimmune responses in the central nervous system and the possibility that some brain disorders in children may occur when environmental triggers interact with genes.",Neurotoxicity,0000217,NINDS,http://www.ninds.nih.gov/disorders/neurotoxicity/neurotoxicity.htm,C0235032,T037,Disorders What is (are) Niemann-Pick Disease ?,0000218-1,information,"Niemann-Pick disease (NP) refers to a group of inherited metabolic disorders known as lipid storage diseases. Lipids (fatty materials such as waxes, fatty acids, oils, and cholesterol) and proteins are usually broken down into smaller components to provide energy for the body. In Niemann-Pick disease, harmful quantities of lipids accumulate in the brain, spleen, liver, lungs, and bone marrow. Neurological symptoms may include ataxia (lack of muscle control during voluntary movements such as walking), loss of muscle tone, brain degeneration, increased sensitivity to touch, spasticity (stiff muscles and awkward movement), and slurred speech. Other symptoms may include feeding and swallowing difficulties, eye paralysis, learning problems, and an enlarged liver and spleen. There may be clouding of the cornea and a characteristic cherry-red halo develops around the center of the retina. The disease has three categories. Type A, the most severe form, occurs in early infancy and is seen primarily in Jewish families. It is characterized by progressive weakness, an enlarged liver and spleen, swollen lymph nodes, and profound brain damage by six months of age. Children with this type rarely live beyond 18 months. Type B usually occurs in the pre-teen years, with symptoms that include ataxia and peripheral neuropathy. The brain is generally not affected. Other symptoms include enlarged liver and spleen, and pulmonary difficulties. In types A and B, insufficient activity of an enzyme called sphingomyelinase causes the build up of toxic amounts of sphingomyelin, a fatty substance present in every cell of the body. Type C may appear early in life or develop in the teen or adult years. It is caused by a lack of the NPC1 or NPC2 proteins. Affected individuals may have extensive brain damage that can cause an inability to look up and down, difficulty in walking and swallowing, and progressive loss of vision and hearing. There may be moderate enlargement of the spleen and liver. Individuals wit Type C who share a common ancestral background in Nova Scotia were previously referred to as Type D.",Niemann-Pick Disease,0000218,NINDS,http://www.ninds.nih.gov/disorders/niemann/niemann.htm,C0028064,T047,Disorders What are the treatments for Niemann-Pick Disease ?,0000218-2,treatment,There is currently no cure for Niemann-Pick disease. Treatment is supportive. Children usually die from infection or progressive neurological loss. There is currently no effective treatment for persons with type A. Bone marrow transplantation has been attempted in a few individuals with type B. The development of enzyme replacement and gene therapies might also be helpful for those with type B. restricting one's diet does not prevent the buildup of lipids in cells and tissues.,Niemann-Pick Disease,0000218,NINDS,http://www.ninds.nih.gov/disorders/niemann/niemann.htm,C0028064,T047,Disorders What is the outlook for Niemann-Pick Disease ?,0000218-3,outlook,"Infants with type A die in infancy. Children with Type B may live a comparatively long time, but may require supplemental oxygen because of lung impairment. The life expectancy of persons with type C varies: some individuals die in childhood while others who appear to be less severely affected can live into adulthood.",Niemann-Pick Disease,0000218,NINDS,http://www.ninds.nih.gov/disorders/niemann/niemann.htm,C0028064,T047,Disorders what research (or clinical trials) is being done for Niemann-Pick Disease ?,0000218-4,research,"The National Institute of Neurological Disorders and Stroke (NINDS), a part of the National Institutes of Health (NIH), conducts and supports research about Niemann-Pick disease through research grants to research institutions across the country. Investigators at the NINDS have identified two different genes that, when defective, contribute to Niemann-Pick disease type C. NINDS scientists are studying the mechanisms by which lipids accumulating in these storage diseases causes harm to the body. Additional research studies hope to identify biomarkers (signs that may indicate risk of a disease and improve diagnosis) for the lipid storage disorders.",Niemann-Pick Disease,0000218,NINDS,http://www.ninds.nih.gov/disorders/niemann/niemann.htm,C0028064,T047,Disorders What is (are) Occipital Neuralgia ?,0000219-1,information,"Occipital neuralgia is a distinct type of headache characterized by piercing, throbbing, or electric-shock-like chronic pain in the upper neck, back of the head, and behind the ears, usually on one side of the head. Typically, the pain of occipital neuralgia begins in the neck and then spreads upwards. Some individuals will also experience pain in the scalp, forehead, and behind the eyes. Their scalp may also be tender to the touch, and their eyes especially sensitive to light. The location of pain is related to the areas supplied by the greater and lesser occipital nerves, which run from the area where the spinal column meets the neck, up to the scalp at the back of the head. The pain is caused by irritation or injury to the nerves, which can be the result of trauma to the back of the head, pinching of the nerves by overly tight neck muscles, compression of the nerve as it leaves the spine due to osteoarthritis, or tumors or other types of lesions in the neck. Localized inflammation or infection, gout, diabetes, blood vessel inflammation (vasculitis), and frequent lengthy periods of keeping the head in a downward and forward position are also associated with occipital neuralgia. In many cases, however, no cause can be found. A positive response (relief from pain) after an anesthetic nerve block will confirm the diagnosis.",Occipital Neuralgia,0000219,NINDS,http://www.ninds.nih.gov/disorders/occipitalneuralgia/occipitalneuralgia.htm,C0007863,T047,Disorders What are the treatments for Occipital Neuralgia ?,0000219-2,treatment,"Treatment is generally symptomatic and includes massage and rest. In some cases, antidepressants may be used when the pain is particularly severe. Other treatments may include local nerve blocks and injections of steroids directly into the affected area.",Occipital Neuralgia,0000219,NINDS,http://www.ninds.nih.gov/disorders/occipitalneuralgia/occipitalneuralgia.htm,C0007863,T047,Disorders What is the outlook for Occipital Neuralgia ?,0000219-3,outlook,"Occipital neuralgia is not a life-threatening condition. Many individuals will improve with therapy involving heat, rest, anti-inflammatory medications, and muscle relaxants. Recovery is usually complete after the bout of pain has ended and the nerve damage repaired or lessened.",Occipital Neuralgia,0000219,NINDS,http://www.ninds.nih.gov/disorders/occipitalneuralgia/occipitalneuralgia.htm,C0007863,T047,Disorders what research (or clinical trials) is being done for Occipital Neuralgia ?,0000219-4,research,The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes at the National Institutes of Health conduct research related to pain and occipital neuralgia in their clinics and laboratories and support additional research through grants to major medical institutions across the country. Much of this research focuses on understanding the basic mechanisms of pain and testing treatments in order to find better ways to treat occipital neuralgia.,Occipital Neuralgia,0000219,NINDS,http://www.ninds.nih.gov/disorders/occipitalneuralgia/occipitalneuralgia.htm,C0007863,T047,Disorders What is (are) Olivopontocerebellar Atrophy ?,0000220-1,information,"Olivopontocerebellar atrophy (OPCA) is a term that describes the degeneration of neurons in specific areas of the brain the cerebellum, pons, and inferior olives. OPCA is present in several neurodegenerative syndromes, including inherited and non-inherited forms of ataxia (such as the hereditary spinocerebellar ataxia known as Machado-Joseph disease) and multiple system atrophy (MSA), with which it is primarily associated. http://www.ninds.nih.gov/disorders/msa/msa.htm OPCA may also be found in the brains of individuals with prion disorders and inherited metabolic diseases. The characteristic areas of brain damage that indicate OPCA can be seen by imaging the brain using CT scans or MRI studies.",Olivopontocerebellar Atrophy,0000220,NINDS,http://www.ninds.nih.gov/disorders/opca/opca.htm,C0028968,T047,Disorders What are the treatments for Olivopontocerebellar Atrophy ?,0000220-2,treatment,"There is no specific treatmentfor OPCA. Physicians may try different medications to treat the ataxia, tremor, and rigidity that are associated with the disorder. Other treatments are directed at specific symptoms. Stiffness, spasms, sleep disorders, depression, and tremor may be improved with medication. A physical therapist may be helpful in establishing a routine of exercise and stretching, and in obtaining devices or appliances to assist in walking and other daily activities.",Olivopontocerebellar Atrophy,0000220,NINDS,http://www.ninds.nih.gov/disorders/opca/opca.htm,C0028968,T047,Disorders What is the outlook for Olivopontocerebellar Atrophy ?,0000220-3,outlook,There is no cure for OPCA. The disorder is slowly progressive with death usually occurring approximately 20 years after onset.,Olivopontocerebellar Atrophy,0000220,NINDS,http://www.ninds.nih.gov/disorders/opca/opca.htm,C0028968,T047,Disorders what research (or clinical trials) is being done for Olivopontocerebellar Atrophy ?,0000220-4,research,"The NINDS supports and conducts a broad range of basic and clinical research on cerebellar degeneration, including work aimed at finding the cause(s) of OPCA and ways to treat, cure, and, ultimately, prevent the disease. There has been great progress recently since the genes for several of the hereditary forms of OPCA have been found.",Olivopontocerebellar Atrophy,0000220,NINDS,http://www.ninds.nih.gov/disorders/opca/opca.htm,C0028968,T047,Disorders What is (are) Paraneoplastic Syndromes ?,0000221-1,information,"Paraneoplastic syndromes are a group of rare disorders that are triggered by an abnormal immune system response to a cancerous tumor known as a ""neoplasm."" Paraneoplastic syndromes are thought to happen when cancer-fighting antibodies or white blood cells (known as T cells) mistakenly attack normal cells in the nervous system. These disorders typically affect middle-aged to older people and are most common in individuals with lung, ovarian, lymphatic, or breast cancer. Neurologic symptoms generally develop over a period of days to weeks and usually occur prior to the tumor being discovered. These symptoms may include difficulty in walking or swallowing, loss of muscle tone, loss of fine motor coordination, slurred speech, memory loss, vision problems, sleep disturbances, dementia, seizures, sensory loss in the limbs, and vertigo or dizziness. Paraneoplastic syndromes include Lambert-Eaton myasthenic syndrome, stiff-person syndrome, encephalomyelitis, myasthenia gravis, cerebellar degeneration, limbic or brainstem encephalitis, neuromyotonia, opsoclonus, and sensory neuropathy.",Paraneoplastic Syndromes,0000221,NINDS,http://www.ninds.nih.gov/disorders/paraneoplastic/paraneoplastic.htm,C0030472,T191,Disorders What are the treatments for Paraneoplastic Syndromes ?,0000221-2,treatment,"When present, the tumor and cancer are treated first, followed by efforts to decrease the autoimmune response -- either through steroids such as cortisone or prednisone, high-dose intravenous immunoglobulin, or irradiation. Plasmapheresis, a process that cleanses antibodies from the blood, may ease symptoms in people with paraneoplastic disorders that affect the peripheral nervous system. Speech and physical therapy may help individuals regain some functions.",Paraneoplastic Syndromes,0000221,NINDS,http://www.ninds.nih.gov/disorders/paraneoplastic/paraneoplastic.htm,C0030472,T191,Disorders What is the outlook for Paraneoplastic Syndromes ?,0000221-3,outlook,"There are no cures for paraneoplastic syndromes. There are no available treatments to stop progressive neurological damage. Generally, the stage of cancer at diagnosis determines the outcome.",Paraneoplastic Syndromes,0000221,NINDS,http://www.ninds.nih.gov/disorders/paraneoplastic/paraneoplastic.htm,C0030472,T191,Disorders what research (or clinical trials) is being done for Paraneoplastic Syndromes ?,0000221-4,research,"Research on paraneoplastic syndromes is aimed at enhancing scientific understanding and evaluating new therapeutic interventions. Researchers seek to learn what causes the autoimmune response in these disorders. Studies are directed at developing tests that detect the presence of antibodies. Scientists also hope to develop animal models for these diseases, which may be used to determine effective treatment strategies.",Paraneoplastic Syndromes,0000221,NINDS,http://www.ninds.nih.gov/disorders/paraneoplastic/paraneoplastic.htm,C0030472,T191,Disorders What is (are) Paresthesia ?,0000222-1,information,"Paresthesia refers to a burning or prickling sensation that is usually felt in the hands, arms, legs, or feet, but can also occur in other parts of the body. The sensation, which happens without warning, is usually painless and described as tingling or numbness, skin crawling, or itching. Most people have experienced temporary paresthesia -- a feeling of ""pins and needles"" -- at some time in their lives when they have sat with legs crossed for too long, or fallen asleep with an arm crooked under their head. It happens when sustained pressure is placed on a nerve. The feeling quickly goes away once the pressure is relieved. Chronic paresthesia is often a symptom of an underlying neurological disease or traumatic nerve damage. Paresthesia can be caused by disorders affecting the central nervous system, such as stroke and transient ischemic attacks (mini-strokes), multiple sclerosis, transverse myelitis, and encephalitis. A tumor or vascular lesion pressed up against the brain or spinal cord can also cause paresthesia. Nerve entrapment syndromes, such as carpal tunnel syndrome, can damage peripheral nerves and cause paresthesia accompanied by pain. Diagnostic evaluation is based on determining the underlying condition causing the paresthetic sensations. An individual's medical history, physical examination, and laboratory tests are essential for the diagnosis. Physicians may order additional tests depending on the suspected cause of the paresthesia.",Paresthesia,0000222,NINDS,http://www.ninds.nih.gov/disorders/paresthesia/paresthesia.htm,C0030554,T184,Disorders What are the treatments for Paresthesia ?,0000222-2,treatment,The appropriate treatment for paresthesia depends on accurate diagnosis of the underlying cause.,Paresthesia,0000222,NINDS,http://www.ninds.nih.gov/disorders/paresthesia/paresthesia.htm,C0030554,T184,Disorders What is the outlook for Paresthesia ?,0000222-3,outlook,The prognosis for those with paresthesia depends on the severity of the sensations and the associated disorders.,Paresthesia,0000222,NINDS,http://www.ninds.nih.gov/disorders/paresthesia/paresthesia.htm,C0030554,T184,Disorders what research (or clinical trials) is being done for Paresthesia ?,0000222-4,research,"The NINDS supports research on disorders of the brain, spinal cord, and peripheral nerves that can cause paresthesia. The goals of this research are to increase scientific understanding of these disorders and to find ways to prevent, treat, and cure them.",Paresthesia,0000222,NINDS,http://www.ninds.nih.gov/disorders/paresthesia/paresthesia.htm,C0030554,T184,Disorders What is (are) Parkinson's Disease ?,0000223-1,information,"Parkinson's disease (PD) belongs to a group of conditions called motor system disorders, which are the result of the loss of dopamine-producing brain cells. The four primary symptoms of PD are tremor, or trembling in hands, arms, legs, jaw, and face; rigidity, or stiffness of the limbs and trunk; bradykinesia, or slowness of movement; and postural instability, or impaired balance and coordination. As these symptoms become more pronounced, patients may have difficulty walking, talking, or completing other simple tasks. PD usually affects people over the age of 60. Early symptoms of PD are subtle and occur gradually. In some people the disease progresses more quickly than in others. As the disease progresses, the shaking, or tremor, which affects the majority of people with PD may begin to interfere with daily activities. Other symptoms may include depression and other emotional changes; difficulty in swallowing, chewing, and speaking; urinary problems or constipation; skin problems; and sleep disruptions. There are currently no blood or laboratory tests that have been proven to help in diagnosing sporadic PD. Therefore the diagnosis is based on medical history and a neurological examination. The disease can be difficult to diagnose accurately. Doctors may sometimes request brain scans or laboratory tests in order to rule out other diseases.",Parkinson's Disease,0000223,NINDS,http://www.ninds.nih.gov/disorders/parkinsons_disease/parkinsons_disease.htm,C0030567,T047,Disorders What are the treatments for Parkinson's Disease ?,0000223-2,treatment,"At present, there is no cure for PD, but a variety of medications provide dramatic relief from the symptoms. Usually, affected individuals are given levodopa combined with carbidopa. Carbidopa delays the conversion of levodopa into dopamine until it reaches the brain. Nerve cells can use levodopa to make dopamine and replenish the brain's dwindling supply. Although levodopa helps at least three-quarters of parkinsonian cases, not all symptoms respond equally to the drug. Bradykinesia and rigidity respond best, while tremor may be only marginally reduced. Problems with balance and other symptoms may not be alleviated at all. Anticholinergics may help control tremor and rigidity. Other drugs, such as bromocriptine, pramipexole, and ropinirole, mimic the role of dopamine in the brain, causing the neurons to react as they would to dopamine. An antiviral drug, amantadine, also appears to reduce symptoms. In May 2006, the FDA approved rasagiline to be used along with levodopa for patients with advanced PD or as a single-drug treatment for early PD. In some cases, surgery may be appropriate if the disease doesn't respond to drugs. A therapy called deep brain stimulation (DBS) has now been approved by the U.S. Food and Drug Administration. In DBS, electrodes are implanted into the brain and connected to a small electrical device called a pulse generator that can be externally programmed. DBS can reduce the need for levodopa and related drugs, which in turn decreases the involuntary movements called dyskinesias that are a common side effect of levodopa. It also helps to alleviate fluctuations of symptoms and to reduce tremors, slowness of movements, and gait problems. DBS requires careful programming of the stimulator device in order to work correctly.",Parkinson's Disease,0000223,NINDS,http://www.ninds.nih.gov/disorders/parkinsons_disease/parkinsons_disease.htm,C0030567,T047,Disorders What is the outlook for Parkinson's Disease ?,0000223-3,outlook,"PD is both chronic, meaning it persists over a long period of time, and progressive, meaning its symptoms grow worse over time. Although some people become severely disabled, others experience only minor motor disruptions. Tremor is the major symptom for some individuals, while for others tremor is only a minor complaint and other symptoms are more troublesome. It is currently not possible to predict which symptoms will affect an individual, and the intensity of the symptoms also varies from person to person.",Parkinson's Disease,0000223,NINDS,http://www.ninds.nih.gov/disorders/parkinsons_disease/parkinsons_disease.htm,C0030567,T047,Disorders what research (or clinical trials) is being done for Parkinson's Disease ?,0000223-4,research,"The National Institute of Neurological Disorders and Stroke (NINDS) conducts PD research in laboratories at the National Institutes of Health (NIH) and also supports additional research through grants to major medical institutions across the country. Current research programs funded by the NINDS are using animal models to study how the disease progresses and to develop new drug therapies. Scientists looking for the cause of PD continue to search for possible environmental factors, such as toxins, that may trigger the disorder, and study genetic factors to determine how defective genes play a role. Other scientists are working to develop new protective drugs that can delay, prevent, or reverse the disease. http://www.ninds.nih.gov/research/parkinsonsweb/index.htm",Parkinson's Disease,0000223,NINDS,http://www.ninds.nih.gov/disorders/parkinsons_disease/parkinsons_disease.htm,C0030567,T047,Disorders What is (are) Paroxysmal Choreoathetosis ?,0000224-1,information,"Paroxysmal choreoathetosis is a movement disorder characterized by episodes or attacks of involuntary movements of the limbs, trunk, and facial muscles. The disorder may occur in several members of a family, or in only a single family member. Prior to an attack some individuals experience tightening of muscles or other physical symptoms. Involuntary movements precipitate some attacks, and other attacks occur when the individual has consumed alcohol or caffeine, or is tired or stressed. Attacks can last from 10 seconds to over an hour. Some individuals have lingering muscle tightness after an attack. Paroxysmal choreoathetosis frequently begins in early adolescence. A gene associated with the disorder has been discovered. The same gene is also associated with epilepsy.",Paroxysmal Choreoathetosis,0000224,NINDS,http://www.ninds.nih.gov/disorders/paroxysmal_choreoathetosis/paroxysmal_choreoathetosis.htm,C1868682,T047,Disorders What are the treatments for Paroxysmal Choreoathetosis ?,0000224-2,treatment,"Drug therapy, particularly carbamazepine, has been very successful in reducing or eliminating attacks of paroxysmal choreoathetosis. While carbamazepine is not effective in every case, other drugs have been substituted with good effect.",Paroxysmal Choreoathetosis,0000224,NINDS,http://www.ninds.nih.gov/disorders/paroxysmal_choreoathetosis/paroxysmal_choreoathetosis.htm,C1868682,T047,Disorders What is the outlook for Paroxysmal Choreoathetosis ?,0000224-3,outlook,"Generally, paroxysmal choreoathetosis lessens with age, and many adults have a complete remission. Because drug therapy is so effective, the prognosis for the disorder is good.",Paroxysmal Choreoathetosis,0000224,NINDS,http://www.ninds.nih.gov/disorders/paroxysmal_choreoathetosis/paroxysmal_choreoathetosis.htm,C1868682,T047,Disorders what research (or clinical trials) is being done for Paroxysmal Choreoathetosis ?,0000224-4,research,NINDS supports and conducts research on movement disorders such as paroxysmal choreoathetosis. Much of this research is aimed at finding ways to prevent and treat these disorders.,Paroxysmal Choreoathetosis,0000224,NINDS,http://www.ninds.nih.gov/disorders/paroxysmal_choreoathetosis/paroxysmal_choreoathetosis.htm,C1868682,T047,Disorders What is (are) Paroxysmal Hemicrania ?,0000225-1,information,"Paroxysmal hemicrania is a rare form of headache that usually begins in adulthood. Patients experience severe throbbing, claw-like, or boring pain usually on one side of the face; in, around, or behind the eye; and occasionally reaching to the back of the neck. This pain may be accompanied by red and tearing eyes, a drooping or swollen eyelid on the affected side of the face, and nasal congestion. Patients may also feel dull pain, soreness, or tenderness between attacks. Attacks of paroxysmal hemicrania typically occur from 5 to 40 times per day and last 2 to 30 minutes. The disorder has two forms: chronic, in which patients experience attacks on a daily basis for a year or more, and episodic, in which the headaches may remit for months or years. Certain movements of the head or neck or external pressure to the neck may trigger these headaches in some patients. The disorder is more common in women than in men.",Paroxysmal Hemicrania,0000225,NINDS,http://www.ninds.nih.gov/disorders/paroxysmal_hemicrania/paroxysmal_hemicrania.htm,C1399352,T047,Disorders What are the treatments for Paroxysmal Hemicrania ?,0000225-2,treatment,"The nonsteroidal anti-inflammatory drug (NSAID) indomethacin often provides complete relief from symptoms. Other less effective NSAIDs, calcium-channel blocking drugs (such as verapamil), and corticosteroids may be used to treat the disorder. Patients with both paroxysmal hemicrania and trigeminal neuralgia (a condition of the 5th cranial nerve that causes sudden, severe pain typically felt on one side of the jaw or cheek) should receive treatment for each disorder.",Paroxysmal Hemicrania,0000225,NINDS,http://www.ninds.nih.gov/disorders/paroxysmal_hemicrania/paroxysmal_hemicrania.htm,C1399352,T047,Disorders What is the outlook for Paroxysmal Hemicrania ?,0000225-3,outlook,Many patients experience complete to near-complete relief of symptoms following physician-supervised medical treatment. Paroxysmal hemicrania may last indefinitely but has been known to go into remission or stop spontaneously.,Paroxysmal Hemicrania,0000225,NINDS,http://www.ninds.nih.gov/disorders/paroxysmal_hemicrania/paroxysmal_hemicrania.htm,C1399352,T047,Disorders what research (or clinical trials) is being done for Paroxysmal Hemicrania ?,0000225-4,research,"The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) support research related to paroxysmal hemicrania through grants to major medical institutions across the country. Much of this research focuses on finding better ways to prevent, treat, and ultimately cure headache disorders such as paroxysmal hemicrania.",Paroxysmal Hemicrania,0000225,NINDS,http://www.ninds.nih.gov/disorders/paroxysmal_hemicrania/paroxysmal_hemicrania.htm,C1399352,T047,Disorders What is (are) Parry-Romberg ?,0000226-1,information,"Parry-Romberg syndrome is a rare disorder characterized by slowly progressive deterioration (atrophy) of the skin and soft tissues of half of the face (hemifacial atrophy), usually the left side. It is more common in females than in males. Initial facial changes usually involve the tissues above the upper jaw (maxilla) or between the nose and the upper corner of the lip (nasolabial fold) and subsequently progress to the angle of the mouth, areas around the eye, the brow, the ear, and the neck. The deterioration may also affect the tongue, the soft and fleshy part of the roof of the mouth, and the gums. The eye and cheek of the affected side may become sunken and facial hair may turn white and fall out (alopecia). In addition, the skin overlying affected areas may become darkly pigmented (hyperpigmentation) with, in some cases, areas of hyperpigmentation and patches of unpigmented skin (vitiligo). Parry-Romberg syndrome is also accompanied by neurological abnormalities including seizures and episodes of severe facial pain (trigeminal neuralgia). The onset of the disease usually begins between the ages of 5 and 15 years. The progression of the atrophy often lasts from 2 to 10 years, and then the process seems to enter a stable phase. Muscles in the face may atrophy and there may be bone loss in the facial bones. Problems with the retina and optic nerve may occur when the disease surrounds the eye.",Parry-Romberg,0000226,NINDS,http://www.ninds.nih.gov/disorders/parry_romberg/parry_romberg.htm,C0015458,T047,Disorders What are the treatments for Parry-Romberg ?,0000226-2,treatment,There is no cure and there are no treatments that can stop the progression of Parry-Romberg syndrome. Reconstructive or microvascular surgery may be needed to repair wasted tissue. The timing of surgical intervention is generally agreed to be the best following exhaustion of the disease course and completion of facial growth. Most surgeons will recommend a waiting period of one or two years before proceeding with reconstruction. Muscle or bone grafts may also be helpful. Other treatment is symptomatic and supportive.,Parry-Romberg,0000226,NINDS,http://www.ninds.nih.gov/disorders/parry_romberg/parry_romberg.htm,C0015458,T047,Disorders What is the outlook for Parry-Romberg ?,0000226-3,outlook,"The prognosis for individuals with Parry-Romberg syndrome varies. In some cases, the atrophy ends before the entire face is affected. In mild cases, the disorder usually causes no disability other than cosmetic effects.",Parry-Romberg,0000226,NINDS,http://www.ninds.nih.gov/disorders/parry_romberg/parry_romberg.htm,C0015458,T047,Disorders what research (or clinical trials) is being done for Parry-Romberg ?,0000226-4,research,"The NINDS supports research on neurological disorders such as Parry-Romberg syndrome with the goal of finding ways to prevent, treat, and cure them.",Parry-Romberg,0000226,NINDS,http://www.ninds.nih.gov/disorders/parry_romberg/parry_romberg.htm,C0015458,T047,Disorders What is (are) Pelizaeus-Merzbacher Disease ?,0000227-1,information,"Pelizaeus-Merzbacher disease (PMD) is a rare, progressive, degenerative central nervous system disorder in which coordination, motor abilities, and intellectual function deteriorate. The disease is one of a group of gene-linked disorders known as the leukodystrophies, which affect growth of the myelin sheath -- the fatty covering that wraps around and protects nerve fibers in the brain. The disease is caused by a mutation in the gene that controls the production of a myelin protein called proteolipid protein-1 (PLP1). PMD is inherited as an X-linked recessive trait; the affected individuals are male and the mothers are carriers of the PLP1 mutation. Severity and onset of the disease ranges widely, depending on the type of PLP1 mutation. PMD is one of a spectrum of diseases associated with PLP1, which also includes Spastic Paraplegia Type 2 (SPG2). The PLP1-related disorders span a continuum of neurologic symptoms that range from severe central nervous system involvement (PMD) to progressive weakness and stiffness of the legs (SPG2). There are four general classifications within this spectrum of diseases. In order of severity, they are: - Connatal PMD, which is the most severe type and involves delayed mental and physical development and severe neurological symptoms; - Classic PMD, in which the early symptoms include muscle weakness, involuntary movements of the eyes (nystagmus), and delays in motor development within the first year of life; - Complicated SPG2, which features motor development issues and brain involvement, and, - Pure SPG2, which includes cases of PMD that do not have neurologic complications. Noticeable changes in the extent of myelination can be detected by MRI analyses of the brain. Additional symptoms of PMD may include slow growth, tremor, failure to develop normal control of head movement, and deteriorating speech and cognitive function.",Pelizaeus-Merzbacher Disease,0000227,NINDS,http://www.ninds.nih.gov/disorders/pelizaeus_merzbacher/pelizaeus_merzbacher.htm,C0205711,T047,Disorders What are the treatments for Pelizaeus-Merzbacher Disease ?,0000227-2,treatment,"There is no cure for Pelizaeus-Merzbacher disease, nor is there a standard course of treatment. Treatment is symptomatic and supportive and may include medication for movement disorders.",Pelizaeus-Merzbacher Disease,0000227,NINDS,http://www.ninds.nih.gov/disorders/pelizaeus_merzbacher/pelizaeus_merzbacher.htm,C0205711,T047,Disorders What is the outlook for Pelizaeus-Merzbacher Disease ?,0000227-3,outlook,"The prognosis for those with the severe forms of Pelizaeus-Merzbacher disease is poor, with progressive deterioration until death. On the other end of the disease spectrum, individuals with the mild form, in which spastic paraplegia is the chief symptom, may have nearly normal activity and life span.",Pelizaeus-Merzbacher Disease,0000227,NINDS,http://www.ninds.nih.gov/disorders/pelizaeus_merzbacher/pelizaeus_merzbacher.htm,C0205711,T047,Disorders what research (or clinical trials) is being done for Pelizaeus-Merzbacher Disease ?,0000227-4,research,"NINDS supports research on gene-linked disorders, including the leukodystrophies. The goals of this research are to increase scientific understanding of these disorders and to find ways to prevent, treat, and ultimately cure them.",Pelizaeus-Merzbacher Disease,0000227,NINDS,http://www.ninds.nih.gov/disorders/pelizaeus_merzbacher/pelizaeus_merzbacher.htm,C0205711,T047,Disorders What is (are) Tarlov Cysts ?,0000228-1,information,"Tarlov cysts are sacs filled with cerebrospinal fluid that most often affect nerve roots in the sacrum, the group of bones at the base of the spine. These cysts (also known as meningeal or perineural cysts) can compress nerve roots, causing lower back pain, sciatica (shock-like or burning pain in the lower back, buttocks, and down one leg to below the knee), urinary incontinence, headaches (due to changes in cerebrospinal fluid pressure), constipation, sexual dysfunction, and some loss of feeling or control of movement in the leg and/or foot. Pressure on the nerves next to the cysts can also cause pain and deterioration of surrounding bone. Tarlov cysts can be diagnosed using magnetic resonance imaging (MRI); however, it is estimated that the majority of the cysts observed by MRI cause no symptoms. Tarlov cysts may become symptomatic following shock, trauma, or exertion that causes the buildup of cerebrospinal fluid. Women are at much higher risk of developing these cysts than are men.",Tarlov Cysts,0000228,NINDS,http://www.ninds.nih.gov/disorders/tarlov_cysts/tarlov_cysts.htm,C0520720,T190,Disorders What are the treatments for Tarlov Cysts ?,0000228-2,treatment,"Tarlov cysts may be drained and shunted to relieve pressure and pain, but relief is often only temporary and fluid build-up in the cysts will recur. Corticosteroid injections may also temporarily relieve pain. Other drugs may be prescribed to treat chronic pain and depression. Injecting the cysts with fibrin glue (a combination of naturally occurring substances based on the clotting factor in blood) may provide temporary relief of pain. Some scientists believe the herpes simplex virus, which thrives in an alkaline environment, can cause Tarlov cysts to become symptomatic. Making the body less alkaline, through diet or supplements, may lessen symptoms. Microsurgical removal of the cyst may be an option in select individuals who do not respond to conservative treatments and who continue to experience pain or progressive neurological damage.",Tarlov Cysts,0000228,NINDS,http://www.ninds.nih.gov/disorders/tarlov_cysts/tarlov_cysts.htm,C0520720,T190,Disorders What is the outlook for Tarlov Cysts ?,0000228-3,outlook,"In some instances Tarlov cysts can cause nerve pain and other pain, weakness, or nerve root compression. Acute and chronic pain may require changes in lifestyle. If left untreated, nerve root compression can cause permanent neurological damage.",Tarlov Cysts,0000228,NINDS,http://www.ninds.nih.gov/disorders/tarlov_cysts/tarlov_cysts.htm,C0520720,T190,Disorders what research (or clinical trials) is being done for Tarlov Cysts ?,0000228-4,research,"The NINDS, a component of the National Institutes of Health within the U.S. Department of Health and Human Services, vigorously pursues a research program seeking new treatments to reduce and prevent pain and nerve damage.",Tarlov Cysts,0000228,NINDS,http://www.ninds.nih.gov/disorders/tarlov_cysts/tarlov_cysts.htm,C0520720,T190,Disorders What is (are) Peripheral Neuropathy ?,0000229-1,information,"Peripheral neuropathy describes damage to the peripheral nervous system, which transmits information from the brain and spinal cord to every other part of the body. More than 100 types of peripheral neuropathy have been identified, each with its own characteristic set of symptoms, pattern of development, and prognosis. Impaired function and symptoms depend on the type of nerves -- motor, sensory, or autonomic -- that are damaged. Some people may experience temporary numbness, tingling, and pricking sensations, sensitivity to touch, or muscle weakness. Others may suffer more extreme symptoms, including burning pain (especially at night), muscle wasting, paralysis, or organ or gland dysfunction. Peripheral neuropathy may be either inherited or acquired. Causes of acquired peripheral neuropathy include physical injury (trauma) to a nerve, tumors, toxins, autoimmune responses, nutritional deficiencies, alcoholism, medical procedures, and vascular and metabolic disorders. Acquired peripheral neuropathies are caused by systemic disease, trauma from external agents, or infections or autoimmune disorders affecting nerve tissue. Inherited forms of peripheral neuropathy are caused by inborn mistakes in the genetic code or by new genetic mutations.",Peripheral Neuropathy,0000229,NINDS,http://www.ninds.nih.gov/disorders/peripheralneuropathy/peripheralneuropathy.htm,C0031117,T047,Disorders What are the treatments for Peripheral Neuropathy ?,0000229-2,treatment,"No medical treatments exist that can cure inherited peripheral neuropathy. However, there are therapies for many other forms. In general, adopting healthy habits -- such as maintaining optimal weight, avoiding exposure to toxins, following a physician-supervised exercise program, eating a balanced diet, correcting vitamin deficiencies, and limiting or avoiding alcohol consumption -- can reduce the physical and emotional effects of peripheral neuropathy. Systemic diseases frequently require more complex treatments.",Peripheral Neuropathy,0000229,NINDS,http://www.ninds.nih.gov/disorders/peripheralneuropathy/peripheralneuropathy.htm,C0031117,T047,Disorders What is the outlook for Peripheral Neuropathy ?,0000229-3,outlook,"In acute neuropathies, such as Guillain-Barr syndrome, symptoms appear suddenly, progress rapidly, and resolve slowly as damaged nerves heal. In chronic forms, symptoms begin subtly and progress slowly. Some people may have periods of relief followed by relapse. Others may reach a plateau stage where symptoms stay the same for many months or years. Some chronic neuropathies worsen over time, but very few forms prove fatal unless complicated by other diseases. Occasionally the neuropathy is a symptom of another disorder.",Peripheral Neuropathy,0000229,NINDS,http://www.ninds.nih.gov/disorders/peripheralneuropathy/peripheralneuropathy.htm,C0031117,T047,Disorders what research (or clinical trials) is being done for Peripheral Neuropathy ?,0000229-4,research,"The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research related to peripheral neuropathies in laboratories at the NIH and also support additional research through grants to major medical institutions across the country. Current research projects funded by the NINDS involve investigations of genetic factors associated with hereditary neuropathies, studies of biological mechanisms involved in diabetes-associated neuropathies, and investigations exploring how the immune system contributes to peripheral nerve damage. Neuropathic pain is a primary target of NINDS-sponsored studies aimed at developing more effective therapies for symptoms of peripheral neuropathy. Some scientists hope to identify substances that will block the brain chemicals that generate pain signals, while others are investigating the pathways by which pain signals reach the brain.",Peripheral Neuropathy,0000229,NINDS,http://www.ninds.nih.gov/disorders/peripheralneuropathy/peripheralneuropathy.htm,C0031117,T047,Disorders What is (are) Periventricular Leukomalacia ?,0000230-1,information,"Periventricular leukomalacia (PVL) is characterized by the death of the white matter of the brain due to softening of the brain tissue. It can affect fetuses or newborns; premature babies are at the greatest risk of the disorder. PVL is caused by a lack of oxygen or blood flow to the periventricular area of the brain, which results in the death or loss of brain tissue. The periventricular area-the area around the spaces in the brain called ventricles-contains nerve fibers that carry messages from the brain to the body's muscles. Although babies with PVL generally have no outward signs or symptoms of the disorder, they are at risk for motor disorders, delayed mental development, coordination problems, and vision and hearing impairments. PVL may be accompanied by a hemorrhage or bleeding in the periventricular-intraventricular area (the area around and inside the ventricles), and can lead to cerebral palsy. The disorder is diagnosed by ultrasound of the head.",Periventricular Leukomalacia,0000230,NINDS,http://www.ninds.nih.gov/disorders/periventricular_leukomalacia/periventricular_leukomalacia.htm,C0023529,T047,Disorders What are the treatments for Periventricular Leukomalacia ?,0000230-2,treatment,There is no specific treatment for PVL. Treatment is symptomatic and supportive. Children with PVL should receive regular medical screenings to determine appropriate interventions.,Periventricular Leukomalacia,0000230,NINDS,http://www.ninds.nih.gov/disorders/periventricular_leukomalacia/periventricular_leukomalacia.htm,C0023529,T047,Disorders What is the outlook for Periventricular Leukomalacia ?,0000230-3,outlook,"The prognosis for individuals with PVL depends upon the severity of the brain damage. Some children exhibit fairly mild symptoms, while others have significant deficits and disabilities.",Periventricular Leukomalacia,0000230,NINDS,http://www.ninds.nih.gov/disorders/periventricular_leukomalacia/periventricular_leukomalacia.htm,C0023529,T047,Disorders what research (or clinical trials) is being done for Periventricular Leukomalacia ?,0000230-4,research,The NINDS supports and conducts research on brain injuries such as PVL. Much of this research is aimed at finding ways to prevent and treat these disorders.,Periventricular Leukomalacia,0000230,NINDS,http://www.ninds.nih.gov/disorders/periventricular_leukomalacia/periventricular_leukomalacia.htm,C0023529,T047,Disorders What is (are) Pervasive Developmental Disorders ?,0000231-1,information,"The diagnostic category of pervasive developmental disorders (PDD) refers to a group of disorders characterized by delays in the development of socialization and communication skills. Parents may note symptoms as early as infancy, although the typical age of onset is before 3 years of age. Symptoms may include problems with using and understanding language; difficulty relating to people, objects, and events; unusual play with toys and other objects; difficulty with changes in routine or familiar surroundings, and repetitive body movements or behavior patterns. Autism (a developmental brain disorder characterized by impaired social interaction and communication skills, and a limited range of activities and interests) is the most characteristic and best studied PDD. Other types of PDD include Asperger's Syndrome, Childhood Disintegrative Disorder, and Rett's Syndrome. Children with PDD vary widely in abilities, intelligence, and behaviors. Some children do not speak at all, others speak in limited phrases or conversations, and some have relatively normal language development. Repetitive play skills and limited social skills are generally evident. Unusual responses to sensory information, such as loud noises and lights, are also common.",Pervasive Developmental Disorders,0000231,NINDS,http://www.ninds.nih.gov/disorders/pdd/pdd.htm,C0524528,T048,Disorders What are the treatments for Pervasive Developmental Disorders ?,0000231-2,treatment,There is no known cure for PDD. Medications are used to address specific behavioral problems; therapy for children with PDD should be specialized according to need. Some children with PDD benefit from specialized classrooms in which the class size is small and instruction is given on a one-to-one basis. Others function well in standard special education classes or regular classes with additional support.,Pervasive Developmental Disorders,0000231,NINDS,http://www.ninds.nih.gov/disorders/pdd/pdd.htm,C0524528,T048,Disorders What is the outlook for Pervasive Developmental Disorders ?,0000231-3,outlook,Early intervention including appropriate and specialized educational programs and support services plays a critical role in improving the outcome of individuals with PDD. PDD is not fatal and does not affect normal life expectancy.,Pervasive Developmental Disorders,0000231,NINDS,http://www.ninds.nih.gov/disorders/pdd/pdd.htm,C0524528,T048,Disorders what research (or clinical trials) is being done for Pervasive Developmental Disorders ?,0000231-4,research,"The NINDS conducts and supports research on developmental disabilities, including PDD. Much of this research focuses on understanding the neurological basis of PDD and on developing techniques to diagnose, treat, prevent, and ultimately cure this and similar disorders.",Pervasive Developmental Disorders,0000231,NINDS,http://www.ninds.nih.gov/disorders/pdd/pdd.htm,C0524528,T048,Disorders What is (are) Pinched Nerve ?,0000232-1,information,"The term ""pinched nerve"" is a colloquial term and not a true medical term. It is used to describe one type of damage or injury to a nerve or set of nerves. The injury may result from compression, constriction, or stretching. Symptoms include numbness, ""pins and needles"" or burning sensations, and pain radiating outward from the injured area. One of the most common examples of a single compressed nerve is the feeling of having a foot or hand ""fall asleep."" A ""pinched nerve"" frequently is associated with pain in the neck or lower back. This type of pain can be caused by inflammation or pressure on the nerve root as it exits the spine. If the pain is severe or lasts a long time, you may need to have further evaluation from your physician. Several problems can lead to similar symptoms of numbness, pain, and tingling in the hands or feet but without pain in the neck or back. These can include peripheral neuropathy, carpal tunnel syndrome, and tennis elbow. The extent of such injuries may vary from minor, temporary damage to a more permanent condition. Early diagnosis is important to prevent further damage or complications. Pinched nerve is a common cause of on-the-job injury.",Pinched Nerve,0000232,NINDS,http://www.ninds.nih.gov/disorders/pinchednerve/pinchednerve.htm,C0273482,T037,Disorders What are the treatments for Pinched Nerve ?,0000232-2,treatment,"The most frequently recommended treatment for pinched nerve is rest for the affected area. Nonsteroidal anti-inflammatory drugs (NSAIDs) or corticosteroids may be recommended to help alleviate pain. Physical therapy is often useful, and splints or collars may be used to relieve symptoms. Depending on the cause and severity of the pinched nerve, surgery may be needed.",Pinched Nerve,0000232,NINDS,http://www.ninds.nih.gov/disorders/pinchednerve/pinchednerve.htm,C0273482,T037,Disorders What is the outlook for Pinched Nerve ?,0000232-3,outlook,"With treatment, most people recover from pinched nerve. However, in some cases, the damage is irreversible.",Pinched Nerve,0000232,NINDS,http://www.ninds.nih.gov/disorders/pinchednerve/pinchednerve.htm,C0273482,T037,Disorders what research (or clinical trials) is being done for Pinched Nerve ?,0000232-4,research,"Within the NINDS research programs, pinched nerves are addressed primarily through studies associated with pain research. NINDS vigorously pursues a research program seeking new treatments for pain and nerve damage with the ultimate goal of reversing debilitating conditions such as pinched nerves.",Pinched Nerve,0000232,NINDS,http://www.ninds.nih.gov/disorders/pinchednerve/pinchednerve.htm,C0273482,T037,Disorders What is (are) Piriformis Syndrome ?,0000233-1,information,"Piriformis syndrome is a rare neuromuscular disorder that occurs when the piriformis muscle compresses or irritates the sciatic nerve-the largest nerve in the body. The piriformis muscle is a narrow muscle located in the buttocks. Compression of the sciatic nerve causes pain-frequently described as tingling or numbness-in the buttocks and along the nerve, often down to the leg. The pain may worsen as a result of sitting for a long period of time, climbing stairs, walking, or running.",Piriformis Syndrome,0000233,NINDS,http://www.ninds.nih.gov/disorders/piriformis_syndrome/piriformis_syndrome.htm,C0458224,T047,Disorders What are the treatments for Piriformis Syndrome ?,0000233-2,treatment,"Generally, treatment for the disorder begins with stretching exercises and massage. Anti-inflammatory drugs may be prescribed. Cessation of running, bicycling, or similar activities may be advised. A corticosteroid injection near where the piriformis muscle and the sciatic nerve meet may provide temporary relief. In some cases, surgery is recommended.",Piriformis Syndrome,0000233,NINDS,http://www.ninds.nih.gov/disorders/piriformis_syndrome/piriformis_syndrome.htm,C0458224,T047,Disorders What is the outlook for Piriformis Syndrome ?,0000233-3,outlook,"The prognosis for most individuals with piriformis syndrome is good. Once symptoms of the disorder are addressed, individuals can usually resume their normal activities. In some cases, exercise regimens may need to be modified in order to reduce the likelihood of recurrence or worsening.",Piriformis Syndrome,0000233,NINDS,http://www.ninds.nih.gov/disorders/piriformis_syndrome/piriformis_syndrome.htm,C0458224,T047,Disorders what research (or clinical trials) is being done for Piriformis Syndrome ?,0000233-4,research,"Within the NINDS research programs, piriformis syndrome is addressed primarily through studies associated with pain research. NINDS vigorously pursues a research program seeking new treatments for pain and nerve damage with the ultimate goal of reversing debilitating conditions such as piriformis syndrome.",Piriformis Syndrome,0000233,NINDS,http://www.ninds.nih.gov/disorders/piriformis_syndrome/piriformis_syndrome.htm,C0458224,T047,Disorders What is (are) Pituitary Tumors ?,0000234-1,information,"The pituitary is a small, bean-sized gland that is below the hypothalamus, a structure at the base of the brain, by a thread-like stalk that contains both blood vessels and nerves. It controls a system of hormones in the body that regulate growth, metabolism, the stress response, and functions of the sex organs via the thyroid gland, adrenal gland, ovaries, and testes. A pituitary tumor is an abnormal growth of cells within the pituitary gland. Most pituitary tumors are benign, which means they are non-cancerous, grow slowly and do not spread to other parts of the body; however they can make the pituitary gland produce either too many or too few hormones, which can cause problems in the body. Tumors that make hormones are called functioning tumors, and they can cause a wide array of symptoms depending upon the hormone affected. Tumors that dont make hormones are called non-functioning tumors. Their symptoms are directly related to their growth in size and include headaches, vision problems, nausea, and vomiting. Diseases related to hormone abnormalities include Cushings disease, in which fat builds up in the face, back and chest, and the arms and legs become very thin; and acromegaly, a condition in which the hands, feet, and face are larger than normal. Pituitary hormones that impact the sex hormones, such as estrogen and testosterone, can make a woman produce breast milk even though she is not pregnant or nursing, or cause a man to lose his sex drive or lower his sperm count. Pituitary tumors often go undiagnosed because their symptoms resemble those of so many other more common diseases.",Pituitary Tumors,0000234,NINDS,http://www.ninds.nih.gov/disorders/pituitary_tumors/pituitary_tumors.htm,C0032019,T191,Disorders What are the treatments for Pituitary Tumors ?,0000234-2,treatment,"Generally, treatment depends on the type of tumor, the size of the tumor, whether the tumor has invaded or pressed on surrounding structures, such as the brain and visual pathways, and the individuals age and overall health. Three types of treatment are used: surgical removal of the tumor; radiation therapy, in which high-dose x-rays are used to kill the tumor cells; and drug therapy to shrink or destroy the tumor. Medications are also sometimes used to block the tumor from overproducing hormones. For some people, removing the tumor will also stop the pituitarys ability to produce a specific hormone. These individuals will have to take synthetic hormones to replace the ones their pituitary gland no longer produces.",Pituitary Tumors,0000234,NINDS,http://www.ninds.nih.gov/disorders/pituitary_tumors/pituitary_tumors.htm,C0032019,T191,Disorders What is the outlook for Pituitary Tumors ?,0000234-3,outlook,"If diagnosed early enough, the prognosis is usually excellent. If diagnosis is delayed, even a non-functioning tumor can cause problems if it grows large enough to press on the optic nerves, the brain, or the carotid arteries (the vessels that bring blood to the brain). Early diagnosis and treatment is the key to a good prognosis.",Pituitary Tumors,0000234,NINDS,http://www.ninds.nih.gov/disorders/pituitary_tumors/pituitary_tumors.htm,C0032019,T191,Disorders what research (or clinical trials) is being done for Pituitary Tumors ?,0000234-4,research,"The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research related to brain tumors, including pituitary tumors, in their laboratories at the NIH and also support research through grants to major medical institutions across the country. Much of this research focuses on finding better ways to prevent, treat, and ultimately cure pituitary tumors.",Pituitary Tumors,0000234,NINDS,http://www.ninds.nih.gov/disorders/pituitary_tumors/pituitary_tumors.htm,C0032019,T191,Disorders What is (are) Polymyositis ?,0000235-1,information,"Polymyositis is one of a group of muscle diseases known as the inflammatory myopathies, which are characterized by chronic muscle inflammation accompanied by muscle weakness. Polymyositis affects skeletal muscles (those involved with making movement) on both sides of the body. It is rarely seen in persons under age 18; most cases are in adults between the ages of 31 and 60. Progressive muscle weakness starts in the proximal muscles (muscles closest to the trunk of the body) which eventually leads to difficulties climbing stairs, rising from a seated position, lifting objects, or reaching overhead. People with polymyositis may also experience arthritis, shortness of breath, difficulty swallowing and speaking, and heart arrhythmias. In some cases of polymyositis, distal muscles (muscles further away from the trunk of the body, such as those in the forearms and around the ankles and wrists) may be affected as the disease progresses. Polymyositis may be associated with collagen-vascular or autoimmune diseases, such as lupus. Polymyositis may also be associated with infectious disorders, such as HIV-AIDS.",Polymyositis,0000235,NINDS,http://www.ninds.nih.gov/disorders/polymyositis/polymyositis.htm,C0085655,T047,Disorders What are the treatments for Polymyositis ?,0000235-2,treatment,"There is no cure for polymyositis, but the symptoms can be treated. Options include medication, physical therapy, exercise, heat therapy (including microwave and ultrasound), orthotics and assistive devices, and rest. The standard treatment for polymyositis is a corticosteroid drug, given either in pill form or intravenously. Immunosuppressant drugs, such as azathioprine and methotrexate, may reduce inflammation in people who do not respond well to prednisone. Periodic treatment using intravenous immunoglobulin can also improve recovery. Other immunosuppressive agents used to treat the inflammation associated with polymyositis include cyclosporine A, cyclophosphamide, and tacrolimus. Physical therapy is usually recommended to prevent muscle atrophy and to regain muscle strength and range of motion.",Polymyositis,0000235,NINDS,http://www.ninds.nih.gov/disorders/polymyositis/polymyositis.htm,C0085655,T047,Disorders What is the outlook for Polymyositis ?,0000235-3,outlook,"The prognosis for polymyositis varies. Most people respond fairly well to therapy, but some have a more severe disease that does not respond adequately to therapies and are left with significant disability. In rare cases individuals with severe and progressive muscle weakness will develop respiratory failure or pneumonia. Difficulty swallowing may cause weight loss and malnutrition.",Polymyositis,0000235,NINDS,http://www.ninds.nih.gov/disorders/polymyositis/polymyositis.htm,C0085655,T047,Disorders what research (or clinical trials) is being done for Polymyositis ?,0000235-4,research,"The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research relating to polymyositis in laboratories at the NIH and support additional research through grants to major medical institutions across the country. Currently funded research is exploring patterns of gene expression among the inflammatory myopathies, the role of viral infection as a precursor to the disorders, and the safety and efficacy of various treatment regimens.",Polymyositis,0000235,NINDS,http://www.ninds.nih.gov/disorders/polymyositis/polymyositis.htm,C0085655,T047,Disorders What is (are) Porencephaly ?,0000236-1,information,"Porencephaly is an extremely rare disorder of the central nervous system in which a cyst or cavity filled with cerebrospinal fluid develops in the brain. It is usually the result of damage from stroke or infection after birth (the more common type), but it can also be caused by abnormal development before birth (which is inherited and less common). Diagnosis is usually made before an infant reaches his or her first birthday. Symptoms of porencephaly include delayed growth and development, spastic hemiplegia (slight or incomplete paralysis), hypotonia (low muscle tone), seizures (often infantile spasms), and macrocephaly (large head) or microcephaly (small head). Children with porencephaly may have poor or absent speech development, epilepsy, hydrocephalus (accumulation of fluid in the brain), spastic contractures (shrinkage or shortening of the muscles), and cognitive impairment.",Porencephaly,0000236,NINDS,http://www.ninds.nih.gov/disorders/porencephaly/porencephaly.htm,C3714587,T190,Disorders What are the treatments for Porencephaly ?,0000236-2,treatment,"Treatment may include physical therapy, medication for seizures, and the placement of a shunt in the brain to remove excess fluid in the brain.",Porencephaly,0000236,NINDS,http://www.ninds.nih.gov/disorders/porencephaly/porencephaly.htm,C3714587,T190,Disorders What is the outlook for Porencephaly ?,0000236-3,outlook,"The prognosis for children with porencephaly varies according to the location and extent of the cysts or cavities. Some children with this disorder develop only minor neurological problems and have normal intelligence, while others may be severely disabled and die before their second decade of life.",Porencephaly,0000236,NINDS,http://www.ninds.nih.gov/disorders/porencephaly/porencephaly.htm,C3714587,T190,Disorders what research (or clinical trials) is being done for Porencephaly ?,0000236-4,research,The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research related to porencephaly in laboratories at the NIH and also support additional research through grants to major medical institutions across the country. Much of this research explores the complex mechanisms of normal brain development. The knowledge gained from these fundamental studies will provide a foundation for developing ways to prevent porecephaly and the other cephalic disorders.,Porencephaly,0000236,NINDS,http://www.ninds.nih.gov/disorders/porencephaly/porencephaly.htm,C3714587,T190,Disorders What is (are) Post-Polio Syndrome ?,0000237-1,information,"Post-polio syndrome (PPS) is a condition that affects polio survivors many years after recovery from an initial attack of the poliomyelitis virus. PPS is characterized by a further weakening of muscles that were previously affected by the polio infection. The most common symptoms include slowly progressive muscle weakness, fatigue (both general and muscular), and a decrease in muscle size (muscular atrophy). Pain from joint deterioration and increasing skeletal deformities such as scoliosis are common. Some individuals experience only minor symptoms, while others develop more visible muscle weakness and atrophy. PPS is rarely life-threatening but the symptoms can interfere significantly with the individual's capacity to function independently. While polio is contagious, PPS is not transmissible. Only a polio survivor can develop PPS.",Post-Polio Syndrome,0000237,NINDS,http://www.ninds.nih.gov/disorders/post_polio/post_polio.htm,C0080040,T047,Disorders What are the treatments for Post-Polio Syndrome ?,0000237-2,treatment,"Presently, no prevention has been found that can stop deterioration or reverse the deficits caused by the syndrome A number of controlled studies have demonstrated that nonfatiguing exercises may improve muscle strength and reduce tiredness. Doctors recommend that polio survivors follow standard healthy lifestyle practices: consuming a well-balanced diet, exercising judiciously (preferably under the supervision of an experienced health professional), and visiting a doctor regularly. There has been much debate about whether to encourage or discourage exercise for polio survivors or individuals who already have PPS. A commonsense approach, in which people use individual tolerance as their limit, is currently recommended. Preliminary studies indicate that intravenous immunoglobulin therapy may reduce pain, increase quality of life, and improve strength modestly.",Post-Polio Syndrome,0000237,NINDS,http://www.ninds.nih.gov/disorders/post_polio/post_polio.htm,C0080040,T047,Disorders What is the outlook for Post-Polio Syndrome ?,0000237-3,outlook,"PPS is a very slowly progressing condition marked by long periods of stability. The severity of PPS depends on the degree of the residual weakness and disability an individual has after the original polio attack. People who had only minimal symptoms from the original attack and subsequently develop PPS will most likely experience only mild PPS symptoms. People originally hit hard by the polio virus, who were left with severe residual weakness, may develop a more severe case of PPS with a greater loss of muscle function, difficulty in swallowing, and more periods of fatigue.",Post-Polio Syndrome,0000237,NINDS,http://www.ninds.nih.gov/disorders/post_polio/post_polio.htm,C0080040,T047,Disorders what research (or clinical trials) is being done for Post-Polio Syndrome ?,0000237-4,research,"The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research related to PPS in laboratories at the NIH, and also support additional PPS research through grants to major medical institutions across the country.",Post-Polio Syndrome,0000237,NINDS,http://www.ninds.nih.gov/disorders/post_polio/post_polio.htm,C0080040,T047,Disorders What is (are) Primary Lateral Sclerosis ?,0000238-1,information,"Primary lateral sclerosis (PLS) is a rare neuromuscular disease with slowly progressive weakness in voluntary muscle movement. PLS belongs to a group of disorders known as motor neuron diseases. PLS affects the upper motor neurons (also called corticospinal neurons) in the arms, legs, and face. It occurs when nerve cells in the motor regions of the cerebral cortex (the thin layer of cells covering the brain which is responsible for most higher level mental functions) gradually degenerate, causing movements to be slow and effortful. The disorder often affects the legs first, followed by the body, trunk, arms and hands, and, finally the bulbar muscles (muscles that control speech, swallowing, and chewing). Symptoms include weakness, muscle stiffness and spasticity, clumsiness, slowing of movement, and problems with balance and speech. PLS is more common in men than in women, with a varied gradual onset that generally occurs between ages 40 and 60. PLS progresses gradually over a number of years, or even decades. Scientists do not believe PLS has a simple hereditary cause. The diagnosis of PLS requires extensive testing to exclude other diseases. When symptoms begin, PLS may be mistaken for amyotrophic lateral sclerosis (ALS) or spastic paraplegia. Most neurologists follow an affected individual's clinical course for at least 3 to 4 years before making a diagnosis of PLS..",Primary Lateral Sclerosis,0000238,NINDS,http://www.ninds.nih.gov/disorders/primary_lateral_sclerosis/primary_lateral_sclerosis.htm,C0154682,T047,Disorders What are the treatments for Primary Lateral Sclerosis ?,0000238-2,treatment,"Treatment for individuals with PLS is symptomatic. Muscle relaxants such as baclofen, tizanidine, and the benzodiazepines may reduce spasticity. Other drugs may relieve pain and antidepressants can help treat depression. Physical therapy, occupational therapy, and rehabilitation may prevent joint immobility and slow muscle weakness and atrophy. Assistive devices such as supports or braces, speech synthesizers, and wheelchairs ma help some people retain independence.. Speech therapy may be useful for those with involvement of the facial muscles.",Primary Lateral Sclerosis,0000238,NINDS,http://www.ninds.nih.gov/disorders/primary_lateral_sclerosis/primary_lateral_sclerosis.htm,C0154682,T047,Disorders What is the outlook for Primary Lateral Sclerosis ?,0000238-3,outlook,"PLS is not fatal. There is no cure and the progression of symptoms varies. Some people may retain the ability to walk without assistance, but others eventually require wheelchairs, canes, or other assistive devices.",Primary Lateral Sclerosis,0000238,NINDS,http://www.ninds.nih.gov/disorders/primary_lateral_sclerosis/primary_lateral_sclerosis.htm,C0154682,T047,Disorders what research (or clinical trials) is being done for Primary Lateral Sclerosis ?,0000238-4,research,"The NINDS conducts a broad range of research on neuromuscular disorders such as PLS. This research is aimed at developing techniques to diagnose, treat, prevent, and ultimately cure these devastating diseases.",Primary Lateral Sclerosis,0000238,NINDS,http://www.ninds.nih.gov/disorders/primary_lateral_sclerosis/primary_lateral_sclerosis.htm,C0154682,T047,Disorders What is (are) Transmissible Spongiform Encephalopathies ?,0000239-1,information,"Transmissible spongiform encephalopathies (TSEs), also known as prion diseases, are a group of rare degenerative brain disorders characterized by tiny holes that give the brain a ""spongy"" appearance. These holes can be seen when brain tissue is viewed under a microscope. Creutzfeldt-Jakob disease (CJD) is the most well-known of the human TSEs. It is a rare type of dementia that affects about one in every one million people each year. Other human TSEs include kuru, fatal familial insomnia (FFI), and Gerstmann-Straussler-Scheinker disease (GSS). Kuru was identified in people of an isolated tribe in Papua New Guinea and has now almost disappeared. FFI and GSS are extremely rare hereditary diseases, found in just a few families around the world. A new type of CJD, called variant CJD (vCJD), was first described in 1996 and has been found in Great Britain and several other European countries. The initial symptoms of vCJD are different from those of classic CJD and the disorder typically occurs in younger patients. Research suggests that vCJD may have resulted from human consumption of beef from cattle with a TSE disease called bovine spongiform encephalopathy (BSE), also known as ""mad cow disease."" Other TSEs found in animals include scrapie, which affects sheep and goats; chronic wasting disease, which affects elk and deer; and transmissible mink encephalopathy. In a few rare cases, TSEs have occurred in other mammals such as zoo animals. These cases are probably caused by contaminated feed. CJD and other TSEs also can be transmitted experimentally to mice and other animals in the laboratory. Research suggests that TSEs are caused by an abnormal version of a protein called a prion (prion is short for proteinaceous infectious particle). Prion proteins occur in both a normal form, which is a harmless protein found in the body's cells, and in an infectious form, which causes disease. The harmless and infectious forms of the prion protein are nearly identical, but the infectious form takes on a different folded shape from the normal protein. Human TSEs can occur three ways: sporadically; as hereditary diseases; or through transmission from infected individuals. Sporadic TSEs may develop because some of a person's normal prions spontaneously change into the infectious form of the protein and then alter the prions in other cells in a chain reaction. Inherited cases arise from a change, or mutation, in the prion protein gene that causes the prions to be shaped in an abnormal way. This genetic change may be transmitted to an individual's offspring. Transmission of TSEs from infected individuals is relatively rare. TSEs cannot be transmitted through the air or through touching or most other forms of casual contact. However, they may be transmitted through contact with infected tissue, body fluids, or contaminated medical instruments. Normal sterilization procedures such as boiling or irradiating materials do not prevent transmission of TSEs. Symptoms of TSEs vary, but they commonly include personality changes, psychiatric problems such as depression, lack of coordination, and/or an unsteady gait. Patients also may experience involuntary jerking movements called myoclonus, unusual sensations, insomnia, confusion, or memory problems. In the later stages of the disease, patients have severe mental impairment and lose the ability to move or speak.",Transmissible Spongiform Encephalopathies,0000239,NINDS,http://www.ninds.nih.gov/disorders/tse/tse.htm,C0162534,T047,Disorders What are the treatments for Transmissible Spongiform Encephalopathies ?,0000239-2,treatment,TSEs tend to progress rapidly and usually culminate in death over the course of a few months to a few years.,Transmissible Spongiform Encephalopathies,0000239,NINDS,http://www.ninds.nih.gov/disorders/tse/tse.htm,C0162534,T047,Disorders What is the outlook for Transmissible Spongiform Encephalopathies ?,0000239-3,outlook,There is currently no treatment that can halt progression of any of the TSEs. Treatment is aimed at alleviating symptoms and making the patient as comfortable as possible. A clinical trial of a potential therapy for CJD is expected to begin soon at the University of California at San Francisco.,Transmissible Spongiform Encephalopathies,0000239,NINDS,http://www.ninds.nih.gov/disorders/tse/tse.htm,C0162534,T047,Disorders what research (or clinical trials) is being done for Transmissible Spongiform Encephalopathies ?,0000239-4,research,"The NINDS conducts and supports research on TSEs. This research is aimed at determining how abnormal prion proteins lead to disease, at finding better tests for diagnosing CJD and other disorders, and ultimately at finding ways to treat TSEs.",Transmissible Spongiform Encephalopathies,0000239,NINDS,http://www.ninds.nih.gov/disorders/tse/tse.htm,C0162534,T047,Disorders What is (are) Tabes Dorsalis ?,0000240-1,information,"Tabes dorsalis is a slow degeneration of the nerve cells and nerve fibers that carry sensory information to the brain. The degenerating nerves are in the dorsal columns of the spinal cord (the portion closest to the back of the body) and carry information that help maintain a person's sense of position. Tabes dorsalis is the result of an untreated syphilis infection. Symptoms may not appear for some decades after the initial infection and include weakness, diminished reflexes, unsteady gait, progressive degeneration of the joints, loss of coordination, episodes of intense pain and disturbed sensation, personality changes, dementia, deafness, visual impairment, and impaired response to light. The disease is more frequent in males than in females. Onset is commonly during mid-life. The incidence of tabes dorsalis is rising, in part due to co-associated HIV infection.",Tabes Dorsalis,0000240,NINDS,http://www.ninds.nih.gov/disorders/tabes_dorsalis/tabes_dorsalis.htm,C0039223,T047,Disorders What are the treatments for Tabes Dorsalis ?,0000240-2,treatment,"Penicillin, administered intravenously, is the treatment of choice. Associated pain can be treated with opiates, valproate, or carbamazepine. Patients may also require physical or rehabilitative therapy to deal with muscle wasting and weakness. Preventive treatment for those who come into sexual contact with an individual with tabes dorsalis is important.",Tabes Dorsalis,0000240,NINDS,http://www.ninds.nih.gov/disorders/tabes_dorsalis/tabes_dorsalis.htm,C0039223,T047,Disorders What is the outlook for Tabes Dorsalis ?,0000240-3,outlook,"If left untreated, tabes dorsalis can lead to paralysis, dementia, and blindness. Existing nerve damage cannot be reversed.",Tabes Dorsalis,0000240,NINDS,http://www.ninds.nih.gov/disorders/tabes_dorsalis/tabes_dorsalis.htm,C0039223,T047,Disorders what research (or clinical trials) is being done for Tabes Dorsalis ?,0000240-4,research,"The NINDS supports and conducts research on neurodegenerative disorders, such as tabes dorsalis, in an effort to find ways to prevent, treat, and, ultimately, cure these disorders.",Tabes Dorsalis,0000240,NINDS,http://www.ninds.nih.gov/disorders/tabes_dorsalis/tabes_dorsalis.htm,C0039223,T047,Disorders What is (are) Progressive Multifocal Leukoencephalopathy ?,0000241-1,information,"Progressive multifocal leukoencephalopathy (PML) is a disease of the white matter of the brain, caused by a virus infection that targets cells that make myelin--the material that insulates nerve cells (neurons). Polyomavirus JC (often called JC virus) is carried by a majority of people and is harmless except among those with lowered immune defenses. The disease is rare and occurs in patients undergoing chronic corticosteroid or immunosuppressive therapy for organ transplant, or individuals with cancer (such as Hodgkins disease or lymphoma). Individuals with autoimmune conditions such as multiple sclerosis, rheumatoid arthritis, and systemic lupus erythematosis -- some of whom are treated with biological therapies that allow JC virus reactivation -- are at risk for PML as well. PML is most common among individuals with HIV-1 infection / acquired immune deficiency syndrome (AIDS). Studies estimate that prior to effective antiretroviral therapy, as many as 5 percent of persons infected with HIV-1 eventually develop PML that is an AIDS-defining illness. However, current HIV therapy using antiretroviral drugs (ART), which effectively restores immune system function, allows as many as half of all HIV-PML patients to survive, although they may sometimes have an inflammatory reaction in the regions of the brain affected by PML. The symptoms of PML are diverse, since they are related to the location and amount of damage in the brain, and may evolve over the course of several weeks to months The most prominent symptoms are clumsiness; progressive weakness; and visual, speech, and sometimes personality changes. The progression of deficits leads to life-threatening disability and (frequently) death. A diagnosis of PML can be made following brain biopsy or by combining observations of a progressive course of the disease, consistent white matter lesions visible on a magnetic resonance imaging (MRI) scan, and the detection of the JC virus in spinal fluid.",Progressive Multifocal Leukoencephalopathy,0000241,NINDS,http://www.ninds.nih.gov/disorders/pml/pml.htm,C0023524,T047,Disorders What are the treatments for Progressive Multifocal Leukoencephalopathy ?,0000241-2,treatment,"Currently, the best available therapy is reversal of the immune-deficient state, since there are no effective drugs that block virus infection without toxicity. Reversal may be achieved by using plasma exchange to accelerate the removal of the therapeutic agents that put patients at risk for PML. In the case of HIV-associated PML, immediately beginning anti-retroviral therapy will benefit most individuals. Several new drugs that laboratory tests found effective against infection are being used in PML patients with special permission of the U.S. Food and Drug Administration. Hexadecyloxypropyl-Cidofovir (CMX001) is currently being studied as a treatment option for JVC because of its ability to suppress JVC by inhibiting viral DNA replication.",Progressive Multifocal Leukoencephalopathy,0000241,NINDS,http://www.ninds.nih.gov/disorders/pml/pml.htm,C0023524,T047,Disorders What is the outlook for Progressive Multifocal Leukoencephalopathy ?,0000241-3,outlook,"In general, PML has a mortality rate of 30-50 percent in the first few months following diagnosis but depends on the severity of the underlying disease and treatment received. Those who survive PML can be left with severe neurological disabilities.",Progressive Multifocal Leukoencephalopathy,0000241,NINDS,http://www.ninds.nih.gov/disorders/pml/pml.htm,C0023524,T047,Disorders what research (or clinical trials) is being done for Progressive Multifocal Leukoencephalopathy ?,0000241-4,research,"The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research related to PML in laboratories at the NIH, and support additional research through grants to majorresearch institutions across the country. Much of this research focuses on finding better ways to prevent, treat, and ultimately cure disorders such as PML.",Progressive Multifocal Leukoencephalopathy,0000241,NINDS,http://www.ninds.nih.gov/disorders/pml/pml.htm,C0023524,T047,Disorders What is (are) Progressive Supranuclear Palsy ?,0000242-1,information,"Progressive supranuclear palsy (PSP) is a rare brain disorder that causes serious and progressive problems with control of gait and balance, along with complex eye movement and thinking problems. One of the classic signs of the disease is an inability to aim the eyes properly, which occurs because of lesions in the area of the brain that coordinates eye movements. Some individuals describe this effect as a blurring. Affected individualsoften show alterations of mood and behavior, including depression and apathy as well as progressive mild dementia. The disorder's long name indicates that the disease begins slowly and continues to get worse (progressive), and causes weakness (palsy) by damaging certain parts of the brain above pea-sized structures called nuclei that control eye movements (supranuclear). PSP was first described as a distinct disorder in 1964, when three scientists published a paper that distinguished the condition from Parkinson's disease. It is sometimes referred to as Steele-Richardson-Olszewski syndrome, reflecting the combined names of the scientists who defined the disorder. Although PSP gets progressively worse, no one dies from PSP itself.",Progressive Supranuclear Palsy,0000242,NINDS,http://www.ninds.nih.gov/disorders/psp/psp.htm,C0038868,T047,Disorders What are the treatments for Progressive Supranuclear Palsy ?,0000242-2,treatment,"There is currently no effective treatment for PSP, although scientists are searching for better ways to manage the disease. In some patients the slowness, stiffness, and balance problems of PSP may respond to antiparkinsonian agents such as levodopa, or levodopa combined with anticholinergic agents, but the effect is usually temporary. The speech, vision, and swallowing difficulties usually do not respond to any drug treatment.. Another group of drugs that has been of some modest success in PSP are antidepressant medications. The most commonly used of these drugs are Prozac, Elavil, and Tofranil. The anti-PSP benefit of these drugs seems not to be related to their ability to relieve depression. Non-drug treatment for PSP can take many forms. Patients frequently use weighted walking aids because of their tendency to fall backward. Bifocals or special glasses called prisms are sometimes prescribed for PSP patients to remedy the difficulty of looking down. Formal physical therapy is of no proven benefit in PSP, but certain exercises can be done to keep the joints limber. A surgical procedure, a gastrostomy, may be necessary when there are swallowing disturbances. This surgery involves the placement of a tube through the skin of the abdomen into the stomach (intestine) for feeding purposes.",Progressive Supranuclear Palsy,0000242,NINDS,http://www.ninds.nih.gov/disorders/psp/psp.htm,C0038868,T047,Disorders What is the outlook for Progressive Supranuclear Palsy ?,0000242-3,outlook,"PSP gets progressively worse but is not itself directly life-threatening. It does, however, predispose patients to serious complications such as pneumonia secondary to difficulty in swallowing (dysphagia). The most common complications are choking and pneumonia, head injury, and fractures caused by falls. The most common cause of death is pneumonia. With good attention to medical and nutritional needs, however, most PSP patients live well into their 70s and beyond.",Progressive Supranuclear Palsy,0000242,NINDS,http://www.ninds.nih.gov/disorders/psp/psp.htm,C0038868,T047,Disorders what research (or clinical trials) is being done for Progressive Supranuclear Palsy ?,0000242-4,research,"Research is ongoing on Parkinson's and Alzheimer's diseases. Better understanding of those common, related disorders will go a long way toward solving the problem of PSP, just as studying PSP may help shed light on Parkinson's and Alzheimer's diseases.",Progressive Supranuclear Palsy,0000242,NINDS,http://www.ninds.nih.gov/disorders/psp/psp.htm,C0038868,T047,Disorders What is (are) Prosopagnosia ?,0000243-1,information,"Prosopagnosia is a neurological disorder characterized by the inability to recognize faces. Prosopagnosia is also known as face blindness or facial agnosia. The term prosopagnosia comes from the Greek words for face and lack of knowledge. Depending upon the degree of impairment, some people with prosopagnosia may only have difficulty recognizing a familiar face; others will be unable to discriminate between unknown faces, while still others may not even be able to distinguish a face as being different from an object. Some people with the disorder are unable to recognize their own face. Prosopagnosia is not related to memory dysfunction, memory loss, impaired vision, or learning disabilities. Prosopagnosia is thought to be the result of abnormalities, damage, or impairment in the right fusiform gyrus, a fold in the brain that appears to coordinate the neural systems that control facial perception and memory. Prosopagnosia can result from stroke, traumatic brain injury, or certain neurodegenerative diseases. In some cases it is a congenital disorder, present at birth in the absence of any brain damage. Congenital prosopagnosia appears to run in families, which makes it likely to be the result of a genetic mutation or deletion. Some degree of prosopagnosia is often present in children with autism and Aspergers syndrome, and may be the cause of their impaired social development.",Prosopagnosia,0000243,NINDS,http://www.ninds.nih.gov/disorders/prosopagnosia/Prosopagnosia.htm,C0234512,T048,Disorders What are the treatments for Prosopagnosia ?,0000243-2,treatment,The focus of any treatment should be to help the individual with prosopagnosia develop compensatory strategies. Adults who have the condition as a result of stroke or brain trauma can be retrained to use other clues to identify individuals.,Prosopagnosia,0000243,NINDS,http://www.ninds.nih.gov/disorders/prosopagnosia/Prosopagnosia.htm,C0234512,T048,Disorders What is the outlook for Prosopagnosia ?,0000243-3,outlook,"Prosopagnosia can be socially crippling. Individuals with the disorder often have difficulty recognizing family members and close friends. They often use other ways to identify people, such as relying on voice, clothing, or unique physical attributes, but these are not as effective as recognizing a face. Children with congenital prosopagnosia are born with the disability and have never had a time when they could recognize faces. Greater awareness of autism, and the autism spectrum disorders, which involve communication impairments such as prosopagnosia, is likely to make the disorder less overlooked in the future.",Prosopagnosia,0000243,NINDS,http://www.ninds.nih.gov/disorders/prosopagnosia/Prosopagnosia.htm,C0234512,T048,Disorders what research (or clinical trials) is being done for Prosopagnosia ?,0000243-4,research,"The National Institute of Neurological Disorders and Stroke (NINDS) conducts research related to prosopagnosia in its laboratories at the National Institutes of Health (NIH), and also supports additional research through grants to major medical institutions across the country. Much of this research focuses on finding better ways to prevent, treat, and ultimately cure disorders, such as prosopagnosia.",Prosopagnosia,0000243,NINDS,http://www.ninds.nih.gov/disorders/prosopagnosia/Prosopagnosia.htm,C0234512,T048,Disorders What is (are) Rasmussen's Encephalitis ?,0000245-1,information,"Rasmussens encephalitis is a rare, chronic inflammatory neurological disease that usually affects only one hemisphere of the brain. It usually occurs in children under the age of 10 (more rarely in adolescents and adults), and is characterized by frequent and severe seizures, loss of motor skills and speech, paralysis on one side of the body (hemiparesis), inflammation of the brain (encephalitis), and mental deterioration. Most individuals with Rasmussens encephalitis will experience frequent seizures and progressive brain damage in the affected hemisphere of the brain over the course of the first 8 to 12 months, and then enter a phase of permanent, but stable, neurological deficits. Rasmussens encephalitis has features of an autoimmune disease in which immune system cells enter the brain and cause inflammation and damage.Research is ongoing into the causes of this rare disease.",Rasmussen's Encephalitis,0000245,NINDS,http://www.ninds.nih.gov/disorders/rasmussen/rasmussen.htm,C0393484,T047,Disorders What are the treatments for Rasmussen's Encephalitis ?,0000245-2,treatment,"Anti-epileptic drugs are usually not effective in controlling seizures. Recent studies have shown some success with treatments that suppress or modulate the immune system, in particular those that use corticosteroids, intravenous immunoglobulin, or tacrolimus. Surgery to control seizures may be performed in later stages of the disease when neurological deficits stabilize. Surgical procedures, such as functional hemispherectomy and hemispherotomy, may reduce the frequency of seizures and also improve behavior and cognitive abilities.",Rasmussen's Encephalitis,0000245,NINDS,http://www.ninds.nih.gov/disorders/rasmussen/rasmussen.htm,C0393484,T047,Disorders What is the outlook for Rasmussen's Encephalitis ?,0000245-3,outlook,"The prognosis for individuals with Rasmussens encephalitis varies. Despite the advances in medical treatment, none has yet been shown to halt the progress of the disease in the long term. The disorder may lead to severe neurological deficits or it may cause only milder impairments. For some children, surgery decreases seizures. However, most individuals with Rasmussens encephalitis are left with some paralysis, cognitive deficits, and problems with speech. In some cases, the disease can progress to involve the opposite brain hemisphere.",Rasmussen's Encephalitis,0000245,NINDS,http://www.ninds.nih.gov/disorders/rasmussen/rasmussen.htm,C0393484,T047,Disorders what research (or clinical trials) is being done for Rasmussen's Encephalitis ?,0000245-4,research,"The National Institute of Neurological Disorders and Stroke (NINDS) conducts research related to Rasmussens encephalitis in its laboratories at the National Institutes of Health (NIH), and also supports additional research through grants to major research institutions across the country. Much of this research focuses on finding better ways to prevent, treat, and ultimately cure progressive neurological disorders, such as Rasmussens encephalitis.",Rasmussen's Encephalitis,0000245,NINDS,http://www.ninds.nih.gov/disorders/rasmussen/rasmussen.htm,C0393484,T047,Disorders What is (are) Restless Legs Syndrome ?,0000246-1,information,"Restless legs syndrome (RLS) is a neurological disorder characterized by unpleasant sensations in the legs and an uncontrollable, and sometimes overwhelming, urge to move them for relief. Individuals affected with the disorder often describe the sensations as throbbing, polling, or creeping. The sensations range in severity from uncomfortable to irritating to painful.",Restless Legs Syndrome,0000246,NINDS,http://www.ninds.nih.gov/disorders/restless_legs/restless_legs.htm,C0035258,T047,Disorders What are the treatments for Restless Legs Syndrome ?,0000246-2,treatment,"For those with mild to moderate symptoms, many physicians suggest certain lifestyle changes and activities to reduce or eliminate symptoms. Decreased use of caffeine, alcohol, and tobacco may provide some relief. Physicians may suggest that certain individuals take supplements to correct deficiencies in iron, folate, and magnesium. Taking a hot bath, massaging the legs, or using a heating pad or ice pack can help relieve symptoms in some patients. Physicians also may suggest a variety of medications to treat RLS, including dopaminergics, benzodiazepines (central nervous system depressants), opioids, and anticonvulsants. The drugs ropinirole, pramipexole, gabapentin enacarbil, and rotigotine have been approved by the U.S. Food and Drug Administration for treating moderate to severe RLS. The Relaxis pad, which the person can place at the site of discomfort when in bed and provides 30 minutes of vibrations (counterstimulation) that ramp off after 30 minutes, also has been approved by the FDA.",Restless Legs Syndrome,0000246,NINDS,http://www.ninds.nih.gov/disorders/restless_legs/restless_legs.htm,C0035258,T047,Disorders What is the outlook for Restless Legs Syndrome ?,0000246-3,outlook,"RLS is generally a life-long condition for which there is no cure. Symptoms may gradually worsen with age. Nevertheless, current therapies can control the disorder, minimizing symptoms and increasing periods of restful sleep. In addition, some individuals have remissions, periods in which symptoms decrease or disappear for days, weeks, or months, although symptoms usually eventually reappear.",Restless Legs Syndrome,0000246,NINDS,http://www.ninds.nih.gov/disorders/restless_legs/restless_legs.htm,C0035258,T047,Disorders what research (or clinical trials) is being done for Restless Legs Syndrome ?,0000246-4,research,"The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct and support RLS research in laboratories at the NIH and at major medical institutions across the country. The goal of this research is to increase scientific understanding of RLS, find improved methods of diagnosing and treating the syndrome, and discover ways to prevent it.",Restless Legs Syndrome,0000246,NINDS,http://www.ninds.nih.gov/disorders/restless_legs/restless_legs.htm,C0035258,T047,Disorders What is (are) Rett Syndrome ?,0000247-1,information,"Rett syndrome is a childhood neurodevelopmental disorder that affects females almost exclusively. The child generally appears to grow and develop normally, before symptoms begin. Loss of muscle tone is usually the first symptom. Other early symptoms may include a slowing of development, problems crawling or walking, and diminished eye contact. As the syndrome progresses, a child will lose purposeful use of her hands and the ability to speak. Compulsive hand movements such as wringing and washing follow the loss of functional use of the hands. The inability to perform motor functions is perhaps the most severely disabling feature of Rett syndrome, interfering with every body movement, including eye gaze and speech.",Rett Syndrome,0000247,NINDS,http://www.ninds.nih.gov/disorders/rett/rett.htm,C0035372,T047,Disorders What are the treatments for Rett Syndrome ?,0000247-2,treatment,"There is no cure for Rett syndrome. Treatment for the disorder is symptomatic, focusing on the management of symptoms, and supportive. Medication may be needed for breathing irregularities and motor difficulties, and antiepileptic drugs may be used to control seizures. Occupational therapy, physiotherapy, and hydrotherapy may prolong mobility. Some children may require special equipment and aids such as braces to arrest scoliosis, splints to modify hand movements, and nutritional programs to help them maintain adequate weight. Special academic, social, vocational, and support services may be required in some cases.",Rett Syndrome,0000247,NINDS,http://www.ninds.nih.gov/disorders/rett/rett.htm,C0035372,T047,Disorders What is the outlook for Rett Syndrome ?,0000247-3,outlook,"The course of Rett syndrome, including the age of onset and the severity of symptoms, varies from child to child. Despite the difficulties with symptoms, most individuals with Rett syndrome continue to live well into middle age and beyond. Because the disorder is rare, very little is known about long-term prognosis and life expectancy.",Rett Syndrome,0000247,NINDS,http://www.ninds.nih.gov/disorders/rett/rett.htm,C0035372,T047,Disorders what research (or clinical trials) is being done for Rett Syndrome ?,0000247-4,research,"The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research related to Rett syndrome in laboratories at the NIH, and also support additional Rett syndrome research through grants to major medical institutions across the country. The discovery of the Rett syndrome gene in 1999 provides a basis for further genetic studies. Understanding the cause of this disorder is necessary for developing new therapies to manage specific symptoms, as well as for providing better methods of diagnosis.",Rett Syndrome,0000247,NINDS,http://www.ninds.nih.gov/disorders/rett/rett.htm,C0035372,T047,Disorders What is (are) Reye's Syndrome ?,0000248-1,information,"Reye's syndrome (RS) is primarily a children's disease, although it can occur at any age. It affects all organs of the body but is most harmful to the brain and the liver--causing an acute increase of pressure within the brain and, often, massive accumulations of fat in the liver and other organs. RS is defined as a two-phase illness because it generally occurs in conjunction with a previous viral infection, such as the flu or chicken pox. The disorder commonly occurs during recovery from a viral infection, although it can also develop 3 to 5 days after the onset of the viral illness. RS is often misdiagnosed as encephalitis, meningitis, diabetes, drug overdose, poisoning, sudden infant death syndrome, or psychiatric illness. Symptoms of RS include persistent or recurrent vomiting, listlessness, personality changes such as irritability or combativeness, disorientation or confusion, delirium, convulsions, and loss of consciousness. If these symptoms are present during or soon after a viral illness, medical attention should be sought immediately. The symptoms of RS in infants do not follow a typical pattern; for example, vomiting does not always occur. Epidemiologic evidence indicates that aspirin (salicylate) is the major preventable risk factor for Reye's syndrome. The mechanism by which aspirin and other salicylates trigger Reye's syndrome is not completely understood. A ""Reye's-like"" illness may occur in children with genetic metabolic disorders and other toxic disorders. A physician should be consulted before giving a child any aspirin or anti-nausea medicines during a viral illness, which can mask the symptoms of RS.",Reye's Syndrome,0000248,NINDS,http://www.ninds.nih.gov/disorders/reyes_syndrome/reyes_syndrome.htm,C0035400,T047,Disorders What are the treatments for Reye's Syndrome ?,0000248-2,treatment,"There is no cure for RS. Successful management, which depends on early diagnosis, is primarily aimed at protecting the brain against irreversible damage by reducing brain swelling, reversing the metabolic injury, preventing complications in the lungs, and anticipating cardiac arrest. It has been learned that several inborn errors of metabolism mimic RS in that the first manifestation of these errors may be an encephalopathy with liver dysfunction. These disorders must be considered in all suspected cases of RS. Some evidence suggests that treatment in the end stages of RS with hypertonic IV glucose solutions may prevent progression of the syndrome.",Reye's Syndrome,0000248,NINDS,http://www.ninds.nih.gov/disorders/reyes_syndrome/reyes_syndrome.htm,C0035400,T047,Disorders What is the outlook for Reye's Syndrome ?,0000248-3,outlook,"Recovery from RS is directly related to the severity of the swelling of the brain. Some people recover completely, while others may sustain varying degrees of brain damage. Those cases in which the disorder progresses rapidly and the patient lapses into a coma have a poorer prognosis than those with a less severe course. Statistics indicate that when RS is diagnosed and treated in its early stages, chances of recovery are excellent. When diagnosis and treatment are delayed, the chances for successful recovery and survival are severely reduced. Unless RS is diagnosed and treated successfully, death is common, often within a few days.",Reye's Syndrome,0000248,NINDS,http://www.ninds.nih.gov/disorders/reyes_syndrome/reyes_syndrome.htm,C0035400,T047,Disorders what research (or clinical trials) is being done for Reye's Syndrome ?,0000248-4,research,"Much of the research on RS focuses on answering fundamental questions about the disorder such as how problems in the body's metabolism may trigger the nervous system damage characteristic of RS and what role aspirin plays in this life-threatening disorder. The ultimate goal of this research is to improve scientific understanding, diagnosis and medical treatment of RS.",Reye's Syndrome,0000248,NINDS,http://www.ninds.nih.gov/disorders/reyes_syndrome/reyes_syndrome.htm,C0035400,T047,Disorders What is (are) Sydenham Chorea ?,0000249-1,information,"Sydenham chorea (SD) is a neurological disorder of childhood resulting from infection via Group A beta-hemolytic streptococcus (GABHS), the bacterium that causes rheumatic fever. SD is characterized by rapid, irregular, and aimless involuntary movements of the arms and legs, trunk, and facial muscles. It affects girls more often than boys and typically occurs between 5 and 15 years of age. Some children will have a sore throat several weeks before the symptoms begin, but the disorder can also strike up to 6 months after the fever or infection has cleared. Symptoms can appear gradually or all at once, and also may include uncoordinated movements, muscular weakness, stumbling and falling, slurred speech, difficulty concentrating and writing, and emotional instability. The symptoms of SD can vary from a halting gait and slight grimacing to involuntary movements that are frequent and severe enough to be incapacitating. The random, writhing movements of chorea are caused by an auto-immune reaction to the bacterium that interferes with the normal function of a part of the brain (the basal ganglia) that controls motor movements. Due to better sanitary conditions and the use of antibiotics to treat streptococcal infections, rheumatic fever, and consequently SD, are rare in North America and Europe. The disease can still be found in developing nations.",Sydenham Chorea,0000249,NINDS,http://www.ninds.nih.gov/disorders/sydenham/sydenham.htm,C0152113,T047,Disorders What are the treatments for Sydenham Chorea ?,0000249-2,treatment,"There is no specific treatment for SD. For people with the mildest form, bed rest during the period of active movements is sufficient. When the severity of movements interferes with rest, sedative drugs, such as barbiturates or benzodiazepines, may be needed. Antiepileptic medications, such as valproic acid, are often prescribed. Doctors also recommend that children who have had SD take penicillin over the course of the next 10 years to prevent additional manifestations of rheumatic fever.",Sydenham Chorea,0000249,NINDS,http://www.ninds.nih.gov/disorders/sydenham/sydenham.htm,C0152113,T047,Disorders What is the outlook for Sydenham Chorea ?,0000249-3,outlook,"Most children recover completely from SD, although a small number will continue to have disabling, persistent chorea despite treatment. The duration of symptoms varies, generally from 3 to 6 weeks, but some children will have symptoms for several months. Cardiac complications may occur in a small minority of children, usually in the form of endocarditis. In a third of the children with the disease, SD will recur, typically 1 to 2 years after the initial attack. Researchers have noted an association between recurrent SD and the later development of the abrupt onset forms of obsessive-compulsive disorder, attention deficit/hyperactivity disorder, tic disorders, and autism, which they call PANDAS, for Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcus infection. Further studies are needed to determine the nature of the association and the biological pathways that connect streptococcal infection, autoimmune response, and the later development of these specific behavioral disorders.",Sydenham Chorea,0000249,NINDS,http://www.ninds.nih.gov/disorders/sydenham/sydenham.htm,C0152113,T047,Disorders what research (or clinical trials) is being done for Sydenham Chorea ?,0000249-4,research,"The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research related to SD in laboratories at the NIH, and support additional research through grants to major medical institutions across the country. Currently, researchers are studying how the interplay of genetic, developmental, and environmental factors could determine a childs vulnerability to SD after a GABHS infection. Other researchers are exploring whether children whose symptoms either begin or get worse following a GABHS infection share a common set of abnormal biomolecular pathways responsible for their similar clinical symptoms.",Sydenham Chorea,0000249,NINDS,http://www.ninds.nih.gov/disorders/sydenham/sydenham.htm,C0152113,T047,Disorders What is (are) Sandhoff Disease ?,0000250-1,information,"Sandhoff disease is a rare, inherited lipid storage disorder that progressively destroys nerve cells in the brain and spinal cord. It is caused by a deficiency of the enzyme beta-hexosaminidase, which results in the harmful accumulation of certain fats (lipids) in the brain and other organs of the body. Sandhoff disease is a severe form of Tay-Sachs disease, the incidence of which had been particularly high in people of Eastern European and Ashkenazi Jewish descent, but Sandhoff disease is not limited to any ethnic group. Onset of the disorder usually occurs at 6 months of age. Neurological symptoms may include progressive nervous system deterioration, problems initiating and controlling muscles and movement, increased startle reaction to sound, early blindness, seizures, spasticity (non-voluntary and awkward movement), and myoclonus (shock-like contractions of a muscle. Other symptoms may include macrocephaly (an abnormally enlarged head), cherry-red spots in the eyes, frequent respiratory infections, doll-like facial appearance, and an enlarged liver and spleen. Each parent must carry the defective gene and pass it on to the child. Individuals who carry only one copy of the mutated gene typically do not show signs and symptoms of the disorder.",Sandhoff Disease,0000250,NINDS,http://www.ninds.nih.gov/disorders/sandhoff/sandhoff.htm,C0036161,T047,Disorders What are the treatments for Sandhoff Disease ?,0000250-2,treatment,There is no specific treatment for Sandhoff disease. Supportive treatment includes proper nutrition and hydration and keeping the airway open. Anticonvulsants may initially control seizures.,Sandhoff Disease,0000250,NINDS,http://www.ninds.nih.gov/disorders/sandhoff/sandhoff.htm,C0036161,T047,Disorders What is the outlook for Sandhoff Disease ?,0000250-3,outlook,The prognosis for individuals with Sandhoff disease is poor. Death usually occurs by age 3 and is generally caused by respiratory infections.,Sandhoff Disease,0000250,NINDS,http://www.ninds.nih.gov/disorders/sandhoff/sandhoff.htm,C0036161,T047,Disorders what research (or clinical trials) is being done for Sandhoff Disease ?,0000250-4,research,"The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. The NINDS is a part of the National Institutes of Health, the largest supporter of biomedical research in the world. The NINDS, along with other NIH Institutes, supports the Lysosomal Disease Network, a network of centers that addresses some of the major challenges in the diagnosis, management, and therapy of rare diseases, including the lipid storage diseases. Research funded by the NINDS focuses on better understanding of how neurological deficits rise in lipid storage diseases and on the development of new treatments targeting disease mechanisms, including gene therapies, cell-based therapies, and pharmacological approaches. NINDS funded research on the gangliosidoses includes variations of magnetic resonance imaging to develop a biomarker (a sign that may indicate risk of a disease and improve diagnosis) to effectively evaluate brain biochemistry and disease progression, and expanding the use of virus-delivered gene therapy seen in an animal model of Tay-Sachs and Sandhoff diseases for use in humans.",Sandhoff Disease,0000250,NINDS,http://www.ninds.nih.gov/disorders/sandhoff/sandhoff.htm,C0036161,T047,Disorders What is (are) Schizencephaly ?,0000251-1,information,"Schizencephaly is an extremely rare developmental birth defect characterized by abnormal slits, or clefts, in the cerebral hemispheres of the brain. Babies with clefts in both hemispheres (called bilateral clefts) commonly have developmental delays, delays in speech and language skills, and problems with brain-spinal cord communication. Individuals with clefts in only one hemisphere (called unilateral clefts) are often paralyzed on one side of the body, but may have average to near-average intelligence. Individuals with schizencephaly may also have an abnormally small head, cognitive delay and impairment, partial or complete paralysis, or poor muscle tone. Most will experience seizures. Some individuals may have an excessive accumulation of fluid in the brain called hydrocephalus.",Schizencephaly,0000251,NINDS,http://www.ninds.nih.gov/disorders/schizencephaly/schizencephaly.htm,C0266484,T019,Disorders What are the treatments for Schizencephaly ?,0000251-2,treatment,"Treatment generally consists of physical therapy and drugs to prevent seizures. In cases that are complicated by hydrocephalus, a surgically implanted tube, called a shunt, is often used to divert fluid to another area of the body where it can be absorbed.",Schizencephaly,0000251,NINDS,http://www.ninds.nih.gov/disorders/schizencephaly/schizencephaly.htm,C0266484,T019,Disorders What is the outlook for Schizencephaly ?,0000251-3,outlook,The prognosis for individuals with schizencephaly varies depending on the size of the clefts and the extent of neurological disabilities.,Schizencephaly,0000251,NINDS,http://www.ninds.nih.gov/disorders/schizencephaly/schizencephaly.htm,C0266484,T019,Disorders what research (or clinical trials) is being done for Schizencephaly ?,0000251-4,research,The NINDS conducts and supports a wide range of studies that explore the mechanisms of normal brain development. The knowledge gained from these fundamental studies provides the foundation for understanding how to prevent or treat developmental brain defects such as schizencephaly.,Schizencephaly,0000251,NINDS,http://www.ninds.nih.gov/disorders/schizencephaly/schizencephaly.htm,C0266484,T019,Disorders What is (are) Shaken Baby Syndrome ?,0000252-1,information,"Shaken baby syndrome is a type of inflicted traumatic brain injury that happens when a baby is violently shaken. A baby has weak neck muscles and a large, heavy head. Shaking makes the fragile brain bounce back and forth inside the skull and causes bruising, swelling, and bleeding, which can lead to permanent, severe brain damage or death. The characteristic injuries of shaken baby syndrome are subdural hemorrhages (bleeding in the brain), retinal hemorrhages (bleeding in the retina), damage to the spinal cord and neck, and fractures of the ribs and bones. These injuries may not be immediately noticeable. Symptoms of shaken baby syndrome include extreme irritability, lethargy, poor feeding, breathing problems, convulsions, vomiting, and pale or bluish skin. Shaken baby injuries usually occur in children younger than 2 years old, but may be seen in children up to the age of 5.",Shaken Baby Syndrome,0000252,NINDS,http://www.ninds.nih.gov/disorders/shakenbaby/shakenbaby.htm,C0686721,T037,Disorders What are the treatments for Shaken Baby Syndrome ?,0000252-2,treatment,"Emergency treatment for a baby who has been shaken usually includes life-sustaining measures such as respiratory support and surgery to stop internal bleeding and bleeding in the brain. Doctors may use brain scans, such as MRI and CT, to make a more definite diagnosis.",Shaken Baby Syndrome,0000252,NINDS,http://www.ninds.nih.gov/disorders/shakenbaby/shakenbaby.htm,C0686721,T037,Disorders What is the outlook for Shaken Baby Syndrome ?,0000252-3,outlook,"In comparison with accidental traumatic brain injury in infants, shaken baby injuries have a much worse prognosis. Damage to the retina of the eye can cause blindness. The majority of infants who survive severe shaking will have some form of neurological or mental disability, such as cerebral palsy or cognitive impairment, which may not be fully apparent before 6 years of age. Children with shaken baby syndrome may require lifelong medical care.",Shaken Baby Syndrome,0000252,NINDS,http://www.ninds.nih.gov/disorders/shakenbaby/shakenbaby.htm,C0686721,T037,Disorders what research (or clinical trials) is being done for Shaken Baby Syndrome ?,0000252-4,research,"The National Institute of Neurological Disorders and Stroke (NINDS), and other institutes of the National Institutes of Health (NIH), conduct research related to shaken baby syndrome in laboratories at the NIH and also support additional research through grants to major medical institutions across the country. Much of this research focuses on finding better ways to treat and heal medical conditions such as shaken baby syndrome.",Shaken Baby Syndrome,0000252,NINDS,http://www.ninds.nih.gov/disorders/shakenbaby/shakenbaby.htm,C0686721,T037,Disorders What is (are) Sjgren's Syndrome ?,0000253-1,information,"Sjgren's syndrome is an autoimmune disorder in which immune cells attack and destroy the glands that produce tears and saliva. Sjgren's syndrome is also associated with rheumatic disorders such as rheumatoid arthritis. The hallmark symptoms of the disorder are dry mouth and dry eyes. In addition, Sjogren's syndrome may cause skin, nose, and vaginal dryness, and may affect other organs of the body including the kidneys, blood vessels, lungs, liver, pancreas, and brain. Sjgren's syndrome affects 1-4 million people in the United States. Most people are more than 40 years old at the time of diagnosis. Women are 9 times more likely to have Sjgren's syndrome than men.",Sjgren's Syndrome,0000253,NINDS,http://www.ninds.nih.gov/disorders/sjogrens/sjogrens.htm,C0039082,T047,Disorders What are the treatments for Sjgren's Syndrome ?,0000253-2,treatment,"There is no known cure for Sjgren's syndrome nor is there a specific treatment to restore gland secretion. Treatment is generally symptomatic and supportive. Moisture replacement therapies may ease the symptoms of dryness. Nonsteroidal anti-inflammatory drugs may be used to treat musculoskeletal symptoms. For individuals with severe complications, corticosteroids or immunosuppressive drugs may be prescribed.",Sjgren's Syndrome,0000253,NINDS,http://www.ninds.nih.gov/disorders/sjogrens/sjogrens.htm,C0039082,T047,Disorders What is the outlook for Sjgren's Syndrome ?,0000253-3,outlook,"Sjgren's syndrome can damage vital organs of the body with symptoms that may remain stable, worsen, or go into remission. Some people may experience only the mild symptoms of dry eyes and mouth, while others go through cycles of good health followed by severe disease. Many patients are able to treat problems symptomatically. Others are forced to cope with blurred vision, constant eye discomfort, recurrent mouth infections, swollen parotid glands, hoarseness, and difficulty in swallowing and eating. Debilitating fatigue and joint pain can seriously impair quality of life.",Sjgren's Syndrome,0000253,NINDS,http://www.ninds.nih.gov/disorders/sjogrens/sjogrens.htm,C0039082,T047,Disorders what research (or clinical trials) is being done for Sjgren's Syndrome ?,0000253-4,research,"The goals of research on disorders such as Sjgren's syndrome focus on increasing knowledge and understanding of the disorder, improving diagnostic techniques, testing interventions, and finding ways to treat, prevent, and cure the disease.",Sjgren's Syndrome,0000253,NINDS,http://www.ninds.nih.gov/disorders/sjogrens/sjogrens.htm,C0039082,T047,Disorders What is (are) Sleep Apnea ?,0000254-1,information,"Sleep apnea is a common sleep disorder characterized by brief interruptions of breathing during sleep. These episodes usually last 10 seconds or more and occur repeatedly throughout the night. People with sleep apnea will partially awaken as they struggle to breathe, but in the morning they will not be aware of the disturbances in their sleep. The most common type of sleep apnea is obstructive sleep apnea (OSA), caused by relaxation of soft tissue in the back of the throat that blocks the passage of air. Central sleep apnea (CSA) is caused by irregularities in the brains normal signals to breathe. Most people with sleep apnea will have a combination of both types. The hallmark symptom of the disorder is excessive daytime sleepiness. Additional symptoms of sleep apnea include restless sleep, loud snoring (with periods of silence followed by gasps), falling asleep during the day, morning headaches, trouble concentrating, irritability, forgetfulness, mood or behavior changes, anxiety, and depression. Not everyone who has these symptoms will have sleep apnea, but it is recommended that people who are experiencing even a few of these symptoms visit their doctor for evaluation. Sleep apnea is more likely to occur in men than women, and in people who are overweight or obese.",Sleep Apnea,0000254,NINDS,http://www.ninds.nih.gov/disorders/sleep_apnea/sleep_apnea.htm,C0037315,T047,Disorders What are the treatments for Sleep Apnea ?,0000254-2,treatment,"There are a variety of treatments for sleep apnea, depending on an individuals medical history and the severity of the disorder. Most treatment regimens begin with lifestyle changes, such as avoiding alcohol and medications that relax the central nervous system (for example, sedatives and muscle relaxants), losing weight, and quitting smoking. Some people are helped by special pillows or devices that keep them from sleeping on their backs, or oral appliances to keep the airway open during sleep. If these conservative methods are inadequate, doctors often recommend continuous positive airway pressure (CPAP), in which a face mask is attached to a tube and a machine that blows pressurized air into the mask and through the airway to keep it open. Also available are machines that offer variable positive airway pressure (VPAP) and automatic positive airway pressure (APAP). There are also surgical procedures that can be used to remove tissue and widen the airway. Some individuals may need a combination of therapies to successfully treat their sleep apnea.",Sleep Apnea,0000254,NINDS,http://www.ninds.nih.gov/disorders/sleep_apnea/sleep_apnea.htm,C0037315,T047,Disorders What is the outlook for Sleep Apnea ?,0000254-3,outlook,"Untreated, sleep apnea can be life threatening. Excessive daytime sleepiness can cause people to fall asleep at inappropriate times, such as while driving. Sleep apnea also appears to put individuals at risk for stroke and transient ischemic attacks (TIAs, also known as mini-strokes), and is associated with coronary heart disease, heart failure, irregular heartbeat, heart attack, and high blood pressure. Although there is no cure for sleep apnea, recent studies show that successful treatment can reduce the risk of heart and blood pressure problems.",Sleep Apnea,0000254,NINDS,http://www.ninds.nih.gov/disorders/sleep_apnea/sleep_apnea.htm,C0037315,T047,Disorders what research (or clinical trials) is being done for Sleep Apnea ?,0000254-4,research,"The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research related to sleep apnea in laboratories at the NIH, and also support additional research through grants to major medical institutions across the country. Much of this research focuses on finding better ways to prevent, treat, and ultimately cure sleep disorders, such as sleep apnea.",Sleep Apnea,0000254,NINDS,http://www.ninds.nih.gov/disorders/sleep_apnea/sleep_apnea.htm,C0037315,T047,Disorders What is (are) Spasticity ?,0000255-1,information,"Spasticity is a condition in which there is an abnormal increase in muscle tone or stiffness of muscle, which might interfere with movement, speech, or be associated with discomfort or pain. Spasticity is usually caused by damage to nerve pathways within the brain or spinal cord that control muscle movement. It may occur in association with spinal cord injury, multiple sclerosis, cerebral palsy, stroke, brain or head trauma, amyotrophic lateral sclerosis, hereditary spastic paraplegias, and metabolic diseases such as adrenoleukodystrophy, phenylketonuria, and Krabbe disease. Symptoms may include hypertonicity (increased muscle tone), clonus (a series of rapid muscle contractions), exaggerated deep tendon reflexes, muscle spasms, scissoring (involuntary crossing of the legs), and fixed joints (contractures). The degree of spasticity varies from mild muscle stiffness to severe, painful, and uncontrollable muscle spasms. Spasticity can interfere with rehabilitation in patients with certain disorders, and often interferes with daily activities.",Spasticity,0000255,NINDS,http://www.ninds.nih.gov/disorders/spasticity/spasticity.htm,C0026838,T184,Disorders What are the treatments for Spasticity ?,0000255-2,treatment,"Treatment may include such medications as baclofen, diazepam, tizanidine or clonazepam. Physical therapy regimens may include muscle stretching and range of motion exercises to help prevent shrinkage or shortening of muscles and to reduce the severity of symptoms. Targeted injection of botulinum toxin into muscles with the most tome can help to selectively weaken these muscles to improve range of motion and function. Surgery may be recommended for tendon release or to sever the nerve-muscle pathway.",Spasticity,0000255,NINDS,http://www.ninds.nih.gov/disorders/spasticity/spasticity.htm,C0026838,T184,Disorders What is the outlook for Spasticity ?,0000255-3,outlook,The prognosis for those with spasticity depends on the severity of the spasticity and the associated disorder(s).,Spasticity,0000255,NINDS,http://www.ninds.nih.gov/disorders/spasticity/spasticity.htm,C0026838,T184,Disorders what research (or clinical trials) is being done for Spasticity ?,0000255-4,research,"The NINDS supports research on brain and spinal cord disorders that can cause spasticity. The goals of this research are to increase scientific understanding about these disorders and to find ways to prevent, treat, and cure them.",Spasticity,0000255,NINDS,http://www.ninds.nih.gov/disorders/spasticity/spasticity.htm,C0026838,T184,Disorders What is (are) Spina Bifida ?,0000256-1,information,"Spina bifida (SB) is a neural tube defect (a disorder involving incomplete development of the brain, spinal cord, and/or their protective coverings) caused by the failure of the fetus's spine to close properly during the first month of pregnancy. Infants born with SB sometimes have an open lesion on their spine where significant damage to the nerves and spinal cord has occurred. Although the spinal opening can be surgically repaired shortly after birth, the nerve damage is permanent, resulting in varying degrees of paralysis of the lower limbs. Even when there is no lesion present there may be improperly formed or missing vertebrae and accompanying nerve damage. In addition to physical and mobility difficulties, most individuals have some form of learning disability. The types of SB are: myelomeningocele, the severest form, in which the spinal cord and its protective covering (the meninges) protrude from an opening in the spine; meningocele in which the spinal cord develops normally but the meninges and spinal fluid) protrude from a spinal opening; closed neural tube defects, which consist of a group of defects in which development of the spinal cord is affected by malformations of the fat, bone, or meninges; and and occulta, the mildest form, in which one or more vertebrae are malformed and covered by a layer of skin. SB may also cause bowel and bladder complications, and many children with SB have hydrocephalus (excessive accumulation of cerebrospinal fluid in the brain).",Spina Bifida,0000256,NINDS,http://www.ninds.nih.gov/disorders/spina_bifida/spina_bifida.htm,C0080178,T019,Disorders What are the treatments for Spina Bifida ?,0000256-2,treatment,"There is no cure for SB because the nerve tissue cannot be replaced or repaired. Treatment for the variety of effects of SB may include surgery, medication, and physiotherapy. Many individuals with SB will need assistive devices such as braces, crutches, or wheelchairs. Ongoing therapy, medical care, and/or surgical treatments may be necessary to prevent and manage complications throughout the individual's life. Surgery to close the newborn's spinal opening is generally performed within 24 hours after birth to minimize the risk of infection and to preserve existing function in the spinal cord.",Spina Bifida,0000256,NINDS,http://www.ninds.nih.gov/disorders/spina_bifida/spina_bifida.htm,C0080178,T019,Disorders What is the outlook for Spina Bifida ?,0000256-3,outlook,"The prognosis for individuals with SB depends on the number and severity of abnormalities. Prognosis is poorest for those with complete paralysis, hydrocephalus, and other congenital defects. With proper care, most children with SB live well into adulthood.",Spina Bifida,0000256,NINDS,http://www.ninds.nih.gov/disorders/spina_bifida/spina_bifida.htm,C0080178,T019,Disorders what research (or clinical trials) is being done for Spina Bifida ?,0000256-4,research,"The NINDS supports a broad range of research on neural tube defects such as SB aimed at finding ways to treat, prevent, and, ultimately, cure these disorders. Recent studies have shown that the addition of folic acid to the diet of women of child-bearing age may significantly reduce the incidence of neural tube defects. Therefore it is recommended that all women of child-bearing age consume 400 micrograms of folic acid daily.",Spina Bifida,0000256,NINDS,http://www.ninds.nih.gov/disorders/spina_bifida/spina_bifida.htm,C0080178,T019,Disorders What is (are) Spinal Cord Infarction ?,0000257-1,information,"Spinal cord infarction is a stroke either within the spinal cord or the arteries that supply it. It is caused by arteriosclerosis or a thickening or closing of the major arteries to the spinal cord. Frequently spinal cord infarction is caused by a specific form of arteriosclerosis called atheromatosis, in which a deposit or accumulation of lipid-containing matter forms within the arteries. Symptoms, which generally appear within minutes or a few hours of the infarction, may include intermittent sharp or burning back pain, aching pain down through the legs, weakness in the legs, paralysis, loss of deep tendon reflexes, loss of pain and temperature sensation, and incontinence.",Spinal Cord Infarction,0000257,NINDS,http://www.ninds.nih.gov/disorders/spinal_infarction/spinal_infarction.htm,C2314994,T047,Disorders What are the treatments for Spinal Cord Infarction ?,0000257-2,treatment,Treatment is symptomatic. Physical and occupational therapy may help individuals recover from weakness or paralysis. A catheter may be necessary for patients with urinary incontinence.,Spinal Cord Infarction,0000257,NINDS,http://www.ninds.nih.gov/disorders/spinal_infarction/spinal_infarction.htm,C2314994,T047,Disorders What is the outlook for Spinal Cord Infarction ?,0000257-3,outlook,Recovery depends upon how quickly treatment is received and how severely the body is compromised. Paralysis may persist for many weeks or be permanent. Most individuals have a good chance of recovery.,Spinal Cord Infarction,0000257,NINDS,http://www.ninds.nih.gov/disorders/spinal_infarction/spinal_infarction.htm,C2314994,T047,Disorders what research (or clinical trials) is being done for Spinal Cord Infarction ?,0000257-4,research,"NINDS conducts and supports research on disorders of the spinal cord such as spinal cord infarction, aimed at learning more about these disorders and finding ways to prevent and treat them.",Spinal Cord Infarction,0000257,NINDS,http://www.ninds.nih.gov/disorders/spinal_infarction/spinal_infarction.htm,C2314994,T047,Disorders What is (are) Spinal Cord Injury ?,0000258-1,information,"A spinal cord injury usually begins with a sudden, traumatic blow to the spine that fractures or dislocates vertebrae. The damage begins at the moment of injury when displaced bone fragments, disc material, or ligaments bruise or tear into spinal cord tissue. Most injuries to the spinal cord don't completely sever it. Instead, an injury is more likely to cause fractures and compression of the vertebrae, which then crush and destroy axons -- extensions of nerve cells that carry signals up and down the spinal cord between the brain and the rest of the body. An injury to the spinal cord can damage a few, many, or almost all of these axons. Some injuries will allow almost complete recovery. Others will result in complete paralysis.",Spinal Cord Injury,0000258,NINDS,http://www.ninds.nih.gov/disorders/sci/sci.htm,C0037929,T037,Disorders What are the treatments for Spinal Cord Injury ?,0000258-2,treatment,"Improved emergency care for people with spinal cord injuries and aggressive treatment and rehabilitation can minimize damage to the nervous system and even restore limited abilities. Respiratory complications are often an indication of the severity of spinal cord injury About one-third of those with injury to the neck area will need help with breathing and require respiratory support. The steroid drug methylprednisolone appears to reduce the damage to nerve cells if it is given within the first 8 hours after injury. Rehabilitation programs combine physical therapies with skill-building activities and counseling to provide social and emotional support.Electrical simulation of nerves by neural prosthetic devices may restore specific functions, including bladder, breathing, cough, and arm or leg movements, though eligibility for use of these devices depends on the level and type of the spinal cord injury.",Spinal Cord Injury,0000258,NINDS,http://www.ninds.nih.gov/disorders/sci/sci.htm,C0037929,T037,Disorders What is the outlook for Spinal Cord Injury ?,0000258-3,outlook,"Spinal cord injuries are classified as either complete or incomplete. An incomplete injury means that the ability of the spinal cord to convey messages to or from the brain is not completely lost. People with incomplete injuries retain some motor or sensory function below the injury. A complete injury is indicated by a total lack of sensory and motor function below the level of injury. People who survive a spinal cord injury will most likely have medical complications such as chronic pain and bladder and bowel dysfunction, along with an increased susceptibility to respiratory and heart problems. Successful recovery depends upon how well these chronic conditions are handled day to day. Surgery to relieve compression of the spinal tissue by surrounding bones broken or dislocated by the injury is often necessary, through timing of such surgery may vary widely. A recent prospective multicenter trial called STASCIS is exploring whether performing decompression surgery early (less than 24 hours following injury) can improve outcomes for patients with bone fragments or other tissues pressing on the spinal cord.",Spinal Cord Injury,0000258,NINDS,http://www.ninds.nih.gov/disorders/sci/sci.htm,C0037929,T037,Disorders what research (or clinical trials) is being done for Spinal Cord Injury ?,0000258-4,research,"The National Institute of Neurological Disorders and Stroke (NINDS) conducts spinal cord research in its laboratories at the National Institutes of Health (NIH) and also supports additional research through grants to major research institutions across the country. Advances in research are giving doctors and patients hope that repairing injured spinal cords is a reachable goal. Advances in basic research are also being matched by progress in clinical research, especially in understanding the kinds of physical rehabilitation that work best to restore function. Some of the more promising rehabilitation techniques are helping spinal cord injury patients become more mobile.",Spinal Cord Injury,0000258,NINDS,http://www.ninds.nih.gov/disorders/sci/sci.htm,C0037929,T037,Disorders What is (are) Stiff-Person Syndrome ?,0000259-1,information,"Stiff-person syndrome (SPS) is a rare neurological disorder with features of an autoimmune disease. SPS is characterized by fluctuating muscle rigidity in the trunk and limbs and a heightened sensitivity to stimuli such as noise, touch, and emotional distress, which can set off muscle spasms. Abnormal postures, often hunched over and stiffened, are characteristic of the disorder. People with SPS can be too disabled to walk or move, or they are afraid to leave the house because street noises, such as the sound of a horn, can trigger spasms and falls. SPS affects twice as many women as men. It is frequently associated with other autoimmune diseases such as diabetes, thyroiditis, vitiligo, and pernicious anemia. Scientists dont yet understand what causes SPS, but research indicates that it is the result of an autoimmune response gone awry in the brain and spinal cord. The disorder is often misdiagnosed as Parkinsons disease, multiple sclerosis, fibromyalgia, psychosomatic illness, or anxiety and phobia. A definitive diagnosis can be made with a blood test that measures the level of glutamic acid decarboxylase (GAD) antibodies in the blood. People with SPS have elevated levels of GAD, an antibody that works against an enzyme involved in the synthesis of an important neurotransmitter in the brain.",Stiff-Person Syndrome,0000259,NINDS,http://www.ninds.nih.gov/disorders/stiffperson/stiffperson.htm,C0085292,T047,Disorders What are the treatments for Stiff-Person Syndrome ?,0000259-2,treatment,"People with SPS respond to high doses of diazepam and several anti-convulsants, gabapentin and tiagabine. A recent study funded by the NINDS demonstrated the effectiveness of intravenous immunoglobulin (IVIg) treatment in reducing stiffness and lowering sensitivity to noise, touch, and stress in people with SPS.",Stiff-Person Syndrome,0000259,NINDS,http://www.ninds.nih.gov/disorders/stiffperson/stiffperson.htm,C0085292,T047,Disorders What is the outlook for Stiff-Person Syndrome ?,0000259-3,outlook,"Treatment with IVIg, anti-anxiety drugs, muscle relaxants, anti-convulsants, and pain relievers will improve the symptoms of SPS, but will not cure the disorder. Most individuals with SPS have frequent falls and because they lack the normal defensive reflexes; injuries can be severe. With appropriate treatment, the symptoms are usually well controlled.",Stiff-Person Syndrome,0000259,NINDS,http://www.ninds.nih.gov/disorders/stiffperson/stiffperson.htm,C0085292,T047,Disorders what research (or clinical trials) is being done for Stiff-Person Syndrome ?,0000259-4,research,"The National Institute of Neurological Disorders and Stroke (NINDS) conducts research related to SPS in its laboratories at the National Institutes of Health (NIH), and also supports additional research through grants to major medical institutions across the country. A study using the drug rituximab proved ineffective in treating individuals with the disorder. Current research is focused on understanding the cause of the disease and the role of the anti-GAD antibodies.",Stiff-Person Syndrome,0000259,NINDS,http://www.ninds.nih.gov/disorders/stiffperson/stiffperson.htm,C0085292,T047,Disorders What is (are) Striatonigral Degeneration ?,0000260-1,information,"Striatonigral degeneration is a neurological disorder caused by a disruption in the connection between two areas of the brain-the striatum and the substantia nigra. These two areas work together to enable balance and movement. Striatonigral degeneration is a type of multiple system atrophy (MSA). Symptoms of the disorder resemble some of those seen in Parkinson's disease, including rigidity, instability, impaired speech, and slow movements.",Striatonigral Degeneration,0000260,NINDS,http://www.ninds.nih.gov/disorders/striatonigral_degeneration/striatonigral_degeneration.htm,C0270733,T047,Disorders What are the treatments for Striatonigral Degeneration ?,0000260-2,treatment,"There is no cure for striatonigral degeneration, and treatments for the disorder have variable success. Treatments used for Parkinson's disease are recommended. However, unlike Parkinson's disease, striatonigral degeneration is not responsive to levodopa. Dopamine and anticholinergics provide some benefit. Generally, treatment is reevaluated as the disorder progresses.",Striatonigral Degeneration,0000260,NINDS,http://www.ninds.nih.gov/disorders/striatonigral_degeneration/striatonigral_degeneration.htm,C0270733,T047,Disorders What is the outlook for Striatonigral Degeneration ?,0000260-3,outlook,Striatonigral degeneration progresses slowly. Some patients have normal life expectancy.,Striatonigral Degeneration,0000260,NINDS,http://www.ninds.nih.gov/disorders/striatonigral_degeneration/striatonigral_degeneration.htm,C0270733,T047,Disorders what research (or clinical trials) is being done for Striatonigral Degeneration ?,0000260-4,research,The NINDS supports and conducts research on disorders of the brain and nervous system such as striatonigral degeneration. This research focuses on finding ways to prevent and treat these disorders.,Striatonigral Degeneration,0000260,NINDS,http://www.ninds.nih.gov/disorders/striatonigral_degeneration/striatonigral_degeneration.htm,C0270733,T047,Disorders What is (are) Stroke ?,0000261-1,information,"A stroke occurs when the blood supply to part of the brain is suddenly interrupted or when a blood vessel in the brain bursts, spilling blood into the spaces surrounding brain cells. Brain cells die when they no longer receive oxygen and nutrients from the blood or there is sudden bleeding into or around the brain. The symptoms of a stroke include sudden numbness or weakness, especially on one side of the body; sudden confusion or trouble speaking or understanding speech; sudden trouble seeing in one or both eyes; sudden trouble with walking, dizziness, or loss of balance or coordination; or sudden severe headache with no known cause. There are two forms of stroke: ischemic - blockage of a blood vessel supplying the brain, and hemorrhagic - bleeding into or around the brain.",Stroke,0000261,NINDS,http://www.ninds.nih.gov/disorders/stroke/stroke.htm,C0038454,T047,Disorders What are the treatments for Stroke ?,0000261-2,treatment,"Generally there are three treatment stages for stroke: prevention, therapy immediately after the stroke, and post-stroke rehabilitation. Therapies to prevent a first or recurrent stroke are based on treating an individual's underlying risk factors for stroke, such as hypertension, atrial fibrillation, and diabetes. Acute stroke therapies try to stop a stroke while it is happening by quickly dissolving the blood clot causing an ischemic stroke or by stopping the bleeding of a hemorrhagic stroke. Post-stroke rehabilitation helps individuals overcome disabilities that result from stroke damage. Medication or drug therapy is the most common treatment for stroke. The most popular classes of drugs used to prevent or treat stroke are antithrombotics (antiplatelet agents and anticoagulants) and thrombolytics.",Stroke,0000261,NINDS,http://www.ninds.nih.gov/disorders/stroke/stroke.htm,C0038454,T047,Disorders What is the outlook for Stroke ?,0000261-3,outlook,"Although stroke is a disease of the brain, it can affect the entire body. A common disability that results from stroke is complete paralysis on one side of the body, called hemiplegia. A related disability that is not as debilitating as paralysis is one-sided weakness or hemiparesis. Stroke may cause problems with thinking, awareness, attention, learning, judgment, and memory. Stroke survivors often have problems understanding or forming speech. A stroke can lead to emotional problems. Stroke patients may have difficulty controlling their emotions or may express inappropriate emotions. Many stroke patients experience depression. Stroke survivors may also have numbness or strange sensations. The pain is often worse in the hands and feet and is made worse by movement and temperature changes, especially cold temperatures. Recurrent stroke is frequent; about 25 percent of people who recover from their first stroke will have another stroke within 5 years.",Stroke,0000261,NINDS,http://www.ninds.nih.gov/disorders/stroke/stroke.htm,C0038454,T047,Disorders what research (or clinical trials) is being done for Stroke ?,0000261-4,research,"The National Institute of Neurological Disorders and Stroke (NINDS) conducts stroke research and clinical trials at its laboratories and clinics at the National Institutes of Health (NIH), and through grants to major medical institutions across the country. Currently, NINDS researchers are studying the mechanisms of stroke risk factors and the process of brain damage that results from stroke. Basic research has also focused on the genetics of stroke and stroke risk factors. Scientists are working to develop new and better ways to help the brain repair itself to restore important functions. New advances in imaging and rehabilitation have shown that the brain can compensate for function lost as a result of stroke.",Stroke,0000261,NINDS,http://www.ninds.nih.gov/disorders/stroke/stroke.htm,C0038454,T047,Disorders What is (are) SUNCT Headache ?,0000262-1,information,"SUNCT-Short-lasting, Unilateral, Neuralgiform headache attacks with Conjunctival injection and Tearing-is a rare form of headache that is most common in men after age 50. The disorder is marked by bursts of moderate to severe burning, piercing, or throbbing pain, usually on one side of the head and around the eye or temple. The pain usually peaks within seconds of onset and may follow a pattern of increasing and decreasing intensity. Attacks typically occur in daytime hours and last from 5 seconds to 4 minutes per episode. Individuals generally have five to six attacks per hour. Autonomic nervous system responses include watery eyes, reddish or bloodshot eyes caused by dilation of blood vessels (conjunctival injection), nasal congestion, runny nose, sweaty forehead, swelling of the eyelids, and increased pressure within the eye on the affected side of head. Systolic blood pressure may rise during the attacks. Movement of the neck may trigger these headaches. SUNCT may be a form of trigeminal neuralgia and is considered one of the trigeminal autonomic cephalgias, or TACs.",SUNCT Headache,0000262,NINDS,http://www.ninds.nih.gov/disorders/sunct/sunct.htm,C2096315,T047,Disorders What are the treatments for SUNCT Headache ?,0000262-2,treatment,"These headaches are generally non-responsive to usual treatment for other short-lasting headaches. Corticosteroids and the anti-epileptic drugs gabapentin, lamotrigine, and carbamazepine may help relieve some symptoms in some patients. Studies have shown that injections of glycerol to block nerve signaling along the trigeminal nerve may provide temporary relief in some severe cases, but the headaches recurred in about 40 percent of individuals studied.",SUNCT Headache,0000262,NINDS,http://www.ninds.nih.gov/disorders/sunct/sunct.htm,C2096315,T047,Disorders What is the outlook for SUNCT Headache ?,0000262-3,outlook,There is no cure for these headaches. The disorder is not fatal but can cause considerable discomfort.,SUNCT Headache,0000262,NINDS,http://www.ninds.nih.gov/disorders/sunct/sunct.htm,C2096315,T047,Disorders what research (or clinical trials) is being done for SUNCT Headache ?,0000262-4,research,"The NINDS conducts a wide range of research on headache disorders. This research aims to discover ways to better diagnose, treat, and ultimately, prevent these disorders.",SUNCT Headache,0000262,NINDS,http://www.ninds.nih.gov/disorders/sunct/sunct.htm,C2096315,T047,Disorders What is (are) Syringomyelia ?,0000263-1,information,"Syringomyelia (sear-IN-go-my-EEL-ya) is a disorder in which a fluid-filled cyst forms within the spinal cord. This cyst, called a syrinx, expands and elongates over time, destroying the center of the spinal cord. Since the spinal cord connects the brain to nerves in the extremities, this damage results in pain, weakness, and stiffness in the back, shoulders, arms, or legs. Symptoms vary among individuals. Other symptoms may include headaches and a loss of the ability to feel extremes of hot or cold, especially in the hands.Signs of the disorder tend to develop slowly, although sudden onset may occur with coughing or straining. If not treated surgically, syringomyelia often leads to progressive weakness in the arms and legs, loss of hand sensation, and chronic, severe pain. In most cases, the disorder is related to a congenital abnormality of the brain called a Chiari I malformation. This malformation causes the lower part of the cerebellum to protrude from its normal location in the back of the head, through the hole connecting the skull and spine, and into the cervical or neck portion of the spinal canal. Syringomyelia may also occur as a complication of trauma, meningitis, hemorrhage, a tumor, or other condition. Symptoms may appear months or even years after the initial injury, starting with pain, weakness, and sensory impairment originating at the site of trauma. Some cases of syringomyelia are familial, although this is rare.",Syringomyelia,0000263,NINDS,http://www.ninds.nih.gov/disorders/syringomyelia/syringomyelia.htm,C0039144,T047,Disorders What are the treatments for Syringomyelia ?,0000263-2,treatment,"Surgery is usually recommended for individuals with syringomyelia, with the type of surgery and its location dependent on the type of syrinx. In persons with syringomyelia that is associated with the Chiara I malformation, a procedure that removes skulll bone and expands the space around the malformation usually prevents new symptoms from developing and results in the syrinx becoming smaller. In some individuals it may be necessary to drain the syrinx, which can be accomplished using a catheter, drainage tubes, and valves. Recurrence of syringomyelia after surgery may make additional operations necessary; these may not be completely successful over the long term. In the absence of symptoms, syringomyelia is usually not treated. In addition, a physician may recommend not treating the condition in individuals of advanced age or in cases where there is no progression of symptoms. Whether treated or not, many individuals are told to avoid activities that involve straining.",Syringomyelia,0000263,NINDS,http://www.ninds.nih.gov/disorders/syringomyelia/syringomyelia.htm,C0039144,T047,Disorders What is the outlook for Syringomyelia ?,0000263-3,outlook,"Symptoms usually begin in young adulthood, with symptoms of one form usually beginning between the ages of 25 and 40. If not treated surgically (when needed), syringomyelia often leads to progressive weakness in the arms and legs, loss of hand sensation, and chronic, severe pain. Symptoms may worsen with straining or any activity that causes cerebrospinal fluid pressure to fluctuate. Some individuals may have long periods of stability. Surgery results in stabilization or modest improvement in symptoms for most individuals. Delay in treatment may result in irreversible spinal cord injury.",Syringomyelia,0000263,NINDS,http://www.ninds.nih.gov/disorders/syringomyelia/syringomyelia.htm,C0039144,T047,Disorders what research (or clinical trials) is being done for Syringomyelia ?,0000263-4,research,"The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. NINDS investigators are studying how syrinxes first form, as well as the mechanisms of the disorders. NINDS investigators have found that the normal flow of cerebrospinal fluid that occurs with each heartbeat is obstructed in people with syringomyelia. Surgical procedures that relieve this obstruction usually result in the syrinx becoming much smaller in size. Studies are also underway to identify and better understand genetic factors that influence the development of Chiari I malformations and syringomyelia. Researchers hope to better understand the role of birth defects of the skull and brain in the development of hindbrain malformations that can lead to syringomyelia. Diagnostic technology is another area for continued research. NINDS scientists are examining individuals who either have syringomyelia or are at risk of developing the disorder. They are investigating the factors that influence its development, progression, and treatment by recording more than 5 years of symptoms, muscle strength, overall function, and magnetic resonance imaging (MRI) scan findings from individuals who receive standard treatment for syringomyelia. Study results may allow scientists to provide more accurate recommendations to future individuals with syringomyelia regarding optimal surgical or non-surgical treatments.",Syringomyelia,0000263,NINDS,http://www.ninds.nih.gov/disorders/syringomyelia/syringomyelia.htm,C0039144,T047,Disorders What is (are) Tardive Dyskinesia ?,0000264-1,information,"Tardive dyskinesia is a neurological syndrome caused by the long-term use of neuroleptic drugs. Neuroleptic drugs are generally prescribed for psychiatric disorders, as well as for some gastrointestinal and neurological disorders. Tardive dyskinesia is characterized by repetitive, involuntary, purposeless movements. Features of the disorder may include grimacing, tongue protrusion, lip smacking, puckering and pursing, and rapid eye blinking. Rapid movements of the arms, legs, and trunk may also occur. Involuntary movements of the fingers may be present.",Tardive Dyskinesia,0000264,NINDS,http://www.ninds.nih.gov/disorders/tardive/tardive.htm,C0686347,T037,Disorders What are the treatments for Tardive Dyskinesia ?,0000264-2,treatment,"Treatment is highly individualized. The first step is generally to stop or minimize the use of the neuroleptic drug, but this can be done only under close supervision of the physician.. However, for patients with a severe underlying condition this may not be a feasible option. Replacing the neuroleptic drug with substitute drugs may help some individuals. The only approved drug treatment for tardive dyskenesia is tetrabenazine, which is usually effective but can have side effects that need to be discussed prior to starting therapy. Other drugs such as benzodiazepines, clozapine, or botulinum toxin injections also may be tried.",Tardive Dyskinesia,0000264,NINDS,http://www.ninds.nih.gov/disorders/tardive/tardive.htm,C0686347,T037,Disorders What is the outlook for Tardive Dyskinesia ?,0000264-3,outlook,"Symptoms of tardive dyskinesia may remain long after discontinuation of neuroleptic drugs. In many cases, the symptoms stop spontaneously, but in some cases they may persist indefinitely.",Tardive Dyskinesia,0000264,NINDS,http://www.ninds.nih.gov/disorders/tardive/tardive.htm,C0686347,T037,Disorders what research (or clinical trials) is being done for Tardive Dyskinesia ?,0000264-4,research,"The NINDS conducts and supports a broad range of research on movement disorders including tardive dyskinesia. The goals of this research are to improve understanding of these disorders and to discover ways to treat, prevent, and, ultimately, cure them.",Tardive Dyskinesia,0000264,NINDS,http://www.ninds.nih.gov/disorders/tardive/tardive.htm,C0686347,T037,Disorders What is (are) Tay-Sachs Disease ?,0000265-1,information,"Tay-Sachs disease is a inherited metabolic disease caused by the harmful buildup of lipids (fatty materials such as oils and acids) in various cells and tissues in the body. It is part of a group of genetic disorders called the GM2 gangliosidoses. Tay-Sachs and its variant form are caused by a deficiency in the enzyme hexosaminidase A. Affected children appear to develop normally until about age 6 months. Then, symptoms begin and include progressive loss of mental ability, dementia, blindness, increased startle reflex to noise, progressive loss of hearing leading to deafness, and difficulty with swallowing. Seizures may begin in the child's second year. Persons with Tay-Sachs also have ""cherry-red"" spots in their eyes.A much rarer form of the disorder, called late-onset Tay-Sachs disease, occurs in individuals in their twenties and early thirties and is characterized by an unsteady gait and progressive neurological deterioration. The incidence of Tay-Sachs has been particularly high among people of Eastern European and Askhenazi Jewish descent., as well as in certain French Canadians and Louisiana Cajuns. Affected individuals and carriers of Tay-Sachs disease can be identified by a blood test that measures hexosaminidase A activity. Both parents must carry the mutated gene in order to have an affected child. In these instances, there is a 25 percent chance with each pregnancy that the child will be affected with Tay-Sachs disease. Prenatal diagnosis is available if desired. A very severe form of Tay-Sachs disease is know as Sandhoff disease, which is not limited to any ethnic group.",Tay-Sachs Disease,0000265,NINDS,http://www.ninds.nih.gov/disorders/taysachs/taysachs.htm,C0039373,T047,Disorders What are the treatments for Tay-Sachs Disease ?,0000265-2,treatment,Presently there is no specific treatment for Tay-Sachs disease. Anticonvulsant medicine may initially control seizures. Other supportive treatment includes proper nutrition and hydration and techniques to keep the airway open. Children may eventually need a feeding tube.,Tay-Sachs Disease,0000265,NINDS,http://www.ninds.nih.gov/disorders/taysachs/taysachs.htm,C0039373,T047,Disorders What is the outlook for Tay-Sachs Disease ?,0000265-3,outlook,"Even with the best of care, children with Tay-Sachs disease usually die by age 4, from recurring infection.",Tay-Sachs Disease,0000265,NINDS,http://www.ninds.nih.gov/disorders/taysachs/taysachs.htm,C0039373,T047,Disorders what research (or clinical trials) is being done for Tay-Sachs Disease ?,0000265-4,research,"The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. The NINDS is a part of the National Institutes of Health (NIH), the leading supporter of biomedical research in the world. the NINDS and other NIH Institutes supports the Lysosomal Diseases Netowrk, which addresses some of the major challenges in the diagnosis, management, and therapy of rare diseases, including the lipid storage diseases. Additional research funded by the NINDS focuses on better understanding how neurological defects arise in lipid storage disorders and on the development of new treatments targeting disease mechanisms, including gene therapies, cell-based therapies, and pharmacological approaches. NINDS-funded research on the gangliosidoses includes using variations of magnetic resonance imaging to develop a biomarker (a sign that may indicate risk of a disease and improve diagnosis) to effectively evaluate brain biochemistry and disease progression. Other research is expanding the use of virus-delivered gene therapy seen in an animall model of Tay-Sachs disease for use in humans.",Tay-Sachs Disease,0000265,NINDS,http://www.ninds.nih.gov/disorders/taysachs/taysachs.htm,C0039373,T047,Disorders What is (are) Tethered Spinal Cord Syndrome ?,0000266-1,information,"Tethered spinal cord syndrome is a neurological disorder caused by tissue attachments that limit the movement of the spinal cord within the spinal column. Attachments may occur congenitally at the base of the spinal cord (conus medullaris) or they may develop near the site of an injury to the spinal cord. These attachments cause an abnormal stretching of the spinal cord. The course of the disorder is progressive. In children, symptoms may include lesions, hairy patches, dimples, or fatty tumors on the lower back; foot and spinal deformities; weakness in the legs; low back pain; scoliosis; and incontinence. This type of tethered spinal cord syndrome appears to be the result of improper growth of the neural tube during fetal development, and is closely linked to spina bifida. Tethered spinal cord syndrome may go undiagnosed until adulthood, when pain, sensory and motor problems, and loss of bowel and bladder control emerge. This delayed presentation of symptoms is related to the degree of strain placed on the spinal cord over time and may be exacerbated during sports or pregnancy, or may be due to narrowing of the spinal column (stenosis) with age. Tethering may also develop after spinal cord injury and scar tissue can block the flow of fluids around the spinal cord. Fluid pressure may cause cysts to form in the spinal cord, a condition called syringomyelia. This can lead to additional loss of movement, feeling or the onset of pain or autonomic symptoms.",Tethered Spinal Cord Syndrome,0000266,NINDS,http://www.ninds.nih.gov/disorders/tethered_cord/tethered_cord.htm,C0080218,T019,Disorders What are the treatments for Tethered Spinal Cord Syndrome ?,0000266-2,treatment,"MRI imaging is often used to evaluate individuals with these symptoms, and can be used to diagnose the location of the tethering, lower than normal position of the conus medullaris, or presence of a tumor or fatty mass (lipoma). In children, early surgery is recommended to prevent further neurological deterioration. Regular follow-up is important: retethering may occur in some individuals during periods of rapid growth and may be seen between five to nine years of age. If surgery is not advisable, spinal cord nerve roots may be cut to relieve pain. In adults, surgery to free (detether) the spinal cord can reduce the size and further development of cysts in the cord and may restore some function or alleviate other symptoms. Other treatment is symptomatic and supportive.",Tethered Spinal Cord Syndrome,0000266,NINDS,http://www.ninds.nih.gov/disorders/tethered_cord/tethered_cord.htm,C0080218,T019,Disorders What is the outlook for Tethered Spinal Cord Syndrome ?,0000266-3,outlook,"With treatment, individuals with tethered spinal cord syndrome have a normal life expectancy. However, some neurological and motor impairments may not be fully correctable. Surgery soon after symptoms emerge appears to improve chances for recovery and can prevent further functional decline.",Tethered Spinal Cord Syndrome,0000266,NINDS,http://www.ninds.nih.gov/disorders/tethered_cord/tethered_cord.htm,C0080218,T019,Disorders what research (or clinical trials) is being done for Tethered Spinal Cord Syndrome ?,0000266-4,research,"The NINDS conducts and supports research on disorders of the spinal cord. The goals of this research are to find ways to prevent, treat, and cure these disorders.",Tethered Spinal Cord Syndrome,0000266,NINDS,http://www.ninds.nih.gov/disorders/tethered_cord/tethered_cord.htm,C0080218,T019,Disorders What is (are) Thoracic Outlet Syndrome ?,0000267-1,information,"TOS is an umbrella term that encompasses three related syndromes that involve compression of the nerves, arteries, and veins in the lower neck and upper chest area and cause pain in the arm, shoulder, and neck. Most doctors agree that TOS is caused by compression of the brachial plexus or subclavian vessels as they pass through narrow passageways leading from the base of the neck to the armpit and arm, but there is considerable disagreement about its diagnosis and treatment. Making the diagnosis of TOS even more difficult is that a number of disorders feature symptoms similar to those of TOS, including rotator cuff injuries, cervical disc disorders, fibromyalgia, multiple sclerosis, complex regional pain syndrome, and tumors of the syrinx or spinal cord. The disorder can sometimes be diagnosed in a physical exam by tenderness in the supraclavicular area, weakness and/or a ""pins and needles"" feeling when elevating the hands, weakness in the fifth (""little"") finger, and paleness in the palm of one or both hands when the individual raises them above the shoulders, with the fingers pointing to the ceiling. Symptoms of TOS vary depending on the type. Neurogenic TOS has a characteristic sign, called the Gilliatt-Sumner hand, in which there is severe wasting in the fleshy base of the thumb. Other symptoms include paresthesias (pins and needles sensation or numbness) in the fingers and hand, change in hand color, hand coldness, or dull aching pain in the neck, shoulder, and armpit. Venous TOS features pallor, a weak or absent pulse in the affected arm, which also may be cool to the touch and appear paler than the unaffected arm. Symptoms may include numbness, tingling, aching, swelling of the extremity and fingers, and weakness of the neck or arm.. Arterial TOS most prominently features change in color and cold sensitivity in the hands and fingers, swelling, heaviness, paresthesias and poor blood circulation in the arms, hands, and fingers.. There are many causes of TOS, including physical trauma, anatomical defects, tumors that press on nerves, poor posture that causes nerve compression, pregnancy, and repetitive arm and shoulder movements and activity, such as from playing certain sports. TOS is more common in women. The onset of symptoms usually occurs between 20 and 50 years of age. Doctors usually recommend nerve conduction studies, electromyography, or imaging studies to confirm or rule out a diagnosis of TOS.",Thoracic Outlet Syndrome,0000267,NINDS,http://www.ninds.nih.gov/disorders/thoracic/thoracic.htm,C0039984,T047,Disorders What are the treatments for Thoracic Outlet Syndrome ?,0000267-2,treatment,"Treatment begins with exercise programs and physical therapy to strengthen chest muscles, restore normal posture, and relieve compression by increasing the space of the area the nerve passes through. Doctors will often prescribe non-steroidal anti-inflammatory drugs (such as naproxen or ibuprofen) for pain. Other medicines include thromobolytics to break up blood clots and anticoagulants to prevent clots. If this doesn't relieve pain, a doctor may recommend thoracic outlet decompression surgery to release or remove the structures causing compression of the nerve or artery.",Thoracic Outlet Syndrome,0000267,NINDS,http://www.ninds.nih.gov/disorders/thoracic/thoracic.htm,C0039984,T047,Disorders What is the outlook for Thoracic Outlet Syndrome ?,0000267-3,outlook,"The outcome for individuals with TOS varies according to type. The majority of individuals with TOS will improve with exercise and physical therapy. Vascular TOS, and true neurogenic TOS often require surgery to relieve pressure on the affected vessel or nerve.",Thoracic Outlet Syndrome,0000267,NINDS,http://www.ninds.nih.gov/disorders/thoracic/thoracic.htm,C0039984,T047,Disorders what research (or clinical trials) is being done for Thoracic Outlet Syndrome ?,0000267-4,research,The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes at the National Institutes of Health support research in TOS through grants to major medical research institutions across the country. Much of this research focuses on finding better ways to diagnose and treat TOS.,Thoracic Outlet Syndrome,0000267,NINDS,http://www.ninds.nih.gov/disorders/thoracic/thoracic.htm,C0039984,T047,Disorders What is (are) Trigeminal Neuralgia ?,0000268-1,information,"Trigeminal neuralgia (TN), also called tic douloureux, is a chronic pain condition that causes extreme, sporadic, sudden burning or shock-like face pain. The painseldomlasts more than a few seconds or a minute or twoper episode. The intensity of pain can be physically and mentally incapacitating. TN pain is typically felt on one side of the jaw or cheek. Episodes can last for days, weeks, or months at a time and then disappear for months or years. In the days before an episode begins, some patients may experience a tingling or numbing sensation or a somewhat constant and aching pain. The attacks often worsen over time, with fewer and shorter pain-free periods before they recur. The intense flashes of pain can be triggered by vibration or contact with the cheek (such as when shaving, washing the face, or applying makeup), brushing teeth, eating, drinking, talking, or being exposed to the wind. TN occurs most often in people over age 50, but it can occur at any age, and is more common in women than in men. There is some evidence that the disorder runs in families, perhaps because of an inherited pattern of blood vessel formation. Although sometimes debilitating, the disorder is not life-threatening. The presumed cause of TN is a blood vessel pressing on the trigeminal nerve in the head as it exits the brainstem. TN may be part of the normal aging process but in some cases it is the associated with another disorder, such as multiple sclerosis or other disorders characterized by damage to the myelin sheath that covers certain nerves.",Trigeminal Neuralgia,0000268,NINDS,http://www.ninds.nih.gov/disorders/trigeminal_neuralgia/trigeminal_neuralgia.htm,C0040997,T047,Disorders What are the treatments for Trigeminal Neuralgia ?,0000268-2,treatment,"Because there are a large number of conditions that can cause facial pain, TN can be difficult to diagnose. But finding the cause of the pain is important as the treatments for different types of pain may differ. Treatment options include medicines such as anticonvulsants and tricyclic antidepressants, surgery, and complementary approaches. Typical analgesics and opioids are not usually helpful in treating the sharp, recurring pain caused by TN. If medication fails to relieve pain or produces intolerable side effects such as excess fatigue, surgical treatment may be recommended. Several neurosurgical procedures are available. Some are done on an outpatient basis, while others are more complex and require hospitalization. Some patients choose to manage TN using complementary techniques, usually in combination with drug treatment. These techniques include acupuncture, biofeedback, vitamin therapy, nutritional therapy, and electrical stimulation of the nerves.",Trigeminal Neuralgia,0000268,NINDS,http://www.ninds.nih.gov/disorders/trigeminal_neuralgia/trigeminal_neuralgia.htm,C0040997,T047,Disorders What is the outlook for Trigeminal Neuralgia ?,0000268-3,outlook,"The disorder is characterized by recurrences and remissions, and successive recurrences may incapacitate the patient. Due to the intensity of the pain, even the fear of an impending attack may prevent activity. Trigeminal neuralgia is not fatal.",Trigeminal Neuralgia,0000268,NINDS,http://www.ninds.nih.gov/disorders/trigeminal_neuralgia/trigeminal_neuralgia.htm,C0040997,T047,Disorders what research (or clinical trials) is being done for Trigeminal Neuralgia ?,0000268-4,research,"Within the NINDS research programs, trigeminal neuralgia is addressed primarily through studies associated with pain research. NINDS vigorously pursues a research program seeking new treatments for pain and nerve damage with the ultimate goal of reversing debilitating conditions such as trigeminal neuralgia. NINDS has notified research investigators that it is seeking grant applications both in basic and clinical pain research.",Trigeminal Neuralgia,0000268,NINDS,http://www.ninds.nih.gov/disorders/trigeminal_neuralgia/trigeminal_neuralgia.htm,C0040997,T047,Disorders What is (are) Tourette Syndrome ?,0000269-1,information,"Tourette syndrome (TS) is a neurological disorder characterized by repetitive, stereotyped, involuntary movements and vocalizations called tics. The first symptoms of TS are almost always noticed in childhood. Some of the more common tics include eye blinking and other vision irregularities, facial grimacing, shoulder shrugging, and head or shoulder jerking. Perhaps the most dramatic and disabling tics are those that result in self-harm such as punching oneself in the face, or vocal tics including coprolalia (uttering swear words) or echolalia (repeating the words or phrases of others). Many with TS experience additional neurobehavioral problems including inattention, hyperactivity and impulsivity, and obsessive-compulsive symptoms such as intrusive thoughts/worries and repetitive behaviors.",Tourette Syndrome,0000269,NINDS,http://www.ninds.nih.gov/disorders/tourette/tourette.htm,C0040517,T047,Disorders What are the treatments for Tourette Syndrome ?,0000269-2,treatment,"Because tic symptoms do not often cause impairment, the majority of people with TS require no medication for tic suppression. However, effective medications are available for those whose symptoms interfere with functioning. There is no one medication that is helpful to all people with TS, nor does any medication completely eliminate symptoms. Effective medications are also available to treat some of the associated neurobehavioral disorders that can occur in patients with TS.",Tourette Syndrome,0000269,NINDS,http://www.ninds.nih.gov/disorders/tourette/tourette.htm,C0040517,T047,Disorders What is the outlook for Tourette Syndrome ?,0000269-3,outlook,"Although TS can be a chronic condition with symptoms lasting a lifetime, most people with the condition experience their worst symptoms in their early teens, with improvement occurring in the late teens and continuing into adulthood. As a result, some individuals may actually become symptom free or no longer need medication for tic suppression.",Tourette Syndrome,0000269,NINDS,http://www.ninds.nih.gov/disorders/tourette/tourette.htm,C0040517,T047,Disorders what research (or clinical trials) is being done for Tourette Syndrome ?,0000269-4,research,"The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research in laboratories at the NIH and support additional research through grants to major medical institutions across the country. Knowledge about TS comes from studies across a number of medical and scientific disciplines, including genetics, neuroimaging, neuropathology, clinical trials, epidemiology, neurophysiology, neuroimmunology, and descriptive/diagnostic clinical science. Findings from these studies will provide clues for more effective therapies.",Tourette Syndrome,0000269,NINDS,http://www.ninds.nih.gov/disorders/tourette/tourette.htm,C0040517,T047,Disorders What is (are) Transverse Myelitis ?,0000270-1,information,"Transverse myelitis is a neurological disorder caused by inflammation across both sides of one level, or segment, of the spinal cord. The segment of the spinal cord at which the damage occurs determines which parts of the body are affected. Damage at one segment will affect function at that segment and segments below it. In people with transverse myelitis, inflammation usually occurs at the thoracic (upper back) level, causing problems with leg movement and bowel and bladder control, which require signals from the lower segments of the spinal cord. What usually begins as a sudden onset of lower back pain, muscle weakness, or abnormal sensations in the toes and feet can rapidly progress to more severe symptoms, including paralysis, urinary retention, and loss of bowel control.",Transverse Myelitis,0000270,NINDS,http://www.ninds.nih.gov/disorders/transversemyelitis/transversemyelitis.htm,C0026976,T047,Disorders What are the treatments for Transverse Myelitis ?,0000270-2,treatment,"No effective cure currently exists for people with transverse myelitis. Physicians often prescribe corticosteroid therapy during the first few weeks of illness to decrease inflammation. Following initial therapy, the most critical part of the treatment for this disorder consists of keeping the patients body functioning while hoping for either complete or partial spontaneous recovery of the nervous system. If an individual begins to recover limb control, physical therapy begins to help improve muscle strength, coordination, and range of motion.",Transverse Myelitis,0000270,NINDS,http://www.ninds.nih.gov/disorders/transversemyelitis/transversemyelitis.htm,C0026976,T047,Disorders What is the outlook for Transverse Myelitis ?,0000270-3,outlook,"Most individuals will have only one episode of transverse myelitis. Recovery usually begins within 2 to 12 weeks of the onset of symptoms and may continue for up to 2 years and in some cases longer--requiring aggressive physical therapy and rehabilitation. However, if there is no improvement within the first 3 to 6 months, complete recovery is unlikely (although some recovery can occur). Historic data, shows that about one-third of people affected with transverse myelitis experience good or full recovery from their symptoms. Another one-third show only fair recovery and are left with significant deficits. The remaining one-third show no recovery at all, with marked dependence on others for basic functions of daily living. New, more aggressive treatment protocols may result in greater recovery statistics.",Transverse Myelitis,0000270,NINDS,http://www.ninds.nih.gov/disorders/transversemyelitis/transversemyelitis.htm,C0026976,T047,Disorders what research (or clinical trials) is being done for Transverse Myelitis ?,0000270-4,research,"The National Institute of Neurological Disorders and Stroke (NINDS) conducts research related to transverse myelitis in its laboratories at the National Institutes of Health (NIH), and also supports additional transverse myelitis research through grants to major medical institutions across the country. Some studies focus on strategies to repair the spinal cord, including approaches using cell transplantation. The NINDS also funds researchers who are using animal models of spinal cord injury to study strategies for replacement or regeneration of spinal cord nerve cells. The knowledge gained from such research should lead to a greater knowledge of the mechanisms responsible for transverse myelitis and may ultimately provide a means to prevent and treat this disorder.",Transverse Myelitis,0000270,NINDS,http://www.ninds.nih.gov/disorders/transversemyelitis/transversemyelitis.htm,C0026976,T047,Disorders What is (are) Tremor ?,0000271-1,information,"Tremor is an unintentional, rhythmic, muscle movement involving to-and-fro movements of one or more parts of the body. Most tremors occur in the hands, although they can also affect the arms, head, face, voice, trunk, and legs. Sometimes tremor is a symptom of another neurological disorder or a side effect of certain drugs, but the most common form occurs in otherwise healthy people. Some forms of tremor are inherited and run in families, while others have no known cause. Excessive alcohol consumption or alcohol withdrawal can kill certain nerve cells, resulting in tremor, especially in the hand. Other causes include an overactive thyroid and the use of certain drugs. Tremor may occur at any age but is most common in middle-aged and older persons. There are several forms of tremor, including: Essential tremor (sometimes called benign essential tremor) is the most common form of abnormal tremor.The hands are most often affected but the head, voice, tongue, legs, and trunk may also be involved. Head tremor may be seen as a ""yes-yes"" or ""no-no"" motion. Onset is most common after age 40, although symptoms can appear at any age. Parkinsonian tremor is caused by damage to structures within the brain that control movement. The tremor is classically seen as a ""pill-rolling"" action of the hands but may also affect the chin, lips, legs, and trunk. Dystonic tremor occurs in individuals of all ages who are affected by dystonia, a movement disorder in which sustained involuntary muscle contractions cause twisting motions or painful postures or positions.",Tremor,0000271,NINDS,http://www.ninds.nih.gov/disorders/tremor/tremor.htm,C1963252,T033,Disorders What are the treatments for Tremor ?,0000271-2,treatment,"There is no cure for most tremors. The appropriate treatment depends on accurate diagnosis of the cause. Drug treatment for parkinsonian tremor involves levodopa or dopamine-like drugs such as pramipexole and ropinirole. Essential tremor may be treated with propranolol or other beta blockers (such as nadolol) and primidone, an anticonvulsant drug. Dystonic tremor may respond to clonazepam, anticholinergic drugs, and intramuscular injections of botulinum toxin. Eliminating tremor ""triggers"" such as caffeine and other stimulants from the diet is often recommended. Physical therapy may help to reduce tremor and improve coordination and muscle control for some individuals. Surgical intervention, such as thalamotomy and deep brain stimulation, are usually performed only when the tremor is severe and does not respond to drugs.",Tremor,0000271,NINDS,http://www.ninds.nih.gov/disorders/tremor/tremor.htm,C1963252,T033,Disorders What is the outlook for Tremor ?,0000271-3,outlook,"Although tremor is not life-threatening, it can be embarrassing to some people and make it harder to perform daily tasks.",Tremor,0000271,NINDS,http://www.ninds.nih.gov/disorders/tremor/tremor.htm,C1963252,T033,Disorders what research (or clinical trials) is being done for Tremor ?,0000271-4,research,"The National Institute of Neurological Disorders and Stroke, a unit of the National Institutes of Health (NIH) within the U.S. Department of Health and Human Services, is the nations leading federal funder of research on disorders of the brain and nervous system. The NINDS sponsors research on tremor both at its facilities at the NIH and through grants to medical centers. Scientists are evaluating the effectiveness of certain drugs and searching for genes that can cause certain forms of tremor.",Tremor,0000271,NINDS,http://www.ninds.nih.gov/disorders/tremor/tremor.htm,C1963252,T033,Disorders What is (are) Troyer Syndrome ?,0000272-1,information,"Troyer syndrome is one of more than 40 genetically-distinct neurological disorders known collectively as the hereditary spastic paraplegias. These disorders are characterized by their paramount feature of progressive muscle weakness and spasticity in the legs. Additional symptoms of Troyer syndrome (also called SPG20) include leg contractures, difficulty walking, speech disorders, drooling, atrophy of the hand muscles, developmental delays, fluctuating emotions, and short stature. Onset is typically in early childhood, and symptoms gradually worsen over time. Troyer syndrome is an autosomal recessive disorder (meaning that both parents must carry and pass on the defective gene that produces the illness) that results from a mutation in the spastic paraplegia gene (SPGP20) located in chromosome 13 that results in loss of the spartin proteins. The disease was first observed in Amish families in Ohio. Diagnosis is made by specialized genetic testing.",Troyer Syndrome,0000272,NINDS,http://www.ninds.nih.gov/disorders/troyer_syndrome/troyer_syndrome.htm,C0393559,T047,Disorders What are the treatments for Troyer Syndrome ?,0000272-2,treatment,There are no specific treatments to prevent or slow the progressive degeneration seen in Troyer syndrome. Symptomatic therapy includes antispasmodic drugs and physical therapy to improve muscle strength and maintain range of motion in the legs. Assistive devices may be needed to help with walking.,Troyer Syndrome,0000272,NINDS,http://www.ninds.nih.gov/disorders/troyer_syndrome/troyer_syndrome.htm,C0393559,T047,Disorders What is the outlook for Troyer Syndrome ?,0000272-3,outlook,"Prognosis varies, although the disease is progressive. Some patients may have a mild form of the disease while others eventually lose the ability to walk normally. Troyer syndrome does not shorten the normal life span.",Troyer Syndrome,0000272,NINDS,http://www.ninds.nih.gov/disorders/troyer_syndrome/troyer_syndrome.htm,C0393559,T047,Disorders what research (or clinical trials) is being done for Troyer Syndrome ?,0000272-4,research,"The NINDS supports research on genetic disorders such as the hereditary spastic paraplegias. A gene for Troyer syndrome has been identified and others may be identified in the future. Understanding how these genes cause Troyer syndrome and the hereditary spastic paraplegias in general will lead to ways to prevent, treat, and cure these disorders.",Troyer Syndrome,0000272,NINDS,http://www.ninds.nih.gov/disorders/troyer_syndrome/troyer_syndrome.htm,C0393559,T047,Disorders What is (are) Tuberous Sclerosis ?,0000273-1,information,"Tuberous sclerosis (TSC) is a rare genetic disease that causes benign tumors to grow in the brain and on other vital organs such as the kidneys, heart, eyes, lungs, and skin. It usually affects the central nervous system. In addition to the benign tumors that frequently occur in TSC, other common symptoms include seizures,impaired intellectual development, behavior problems, and skin abnormalities. TSC may be present at birth, but signs of the disorder can be subtle and full symptoms may take some time to develop. Three types of brain tumors are associated with TSC: cortical tubers, which generally form on the surface of the brain; subependymal nodules, which form in the walls of the ventricles (the fluid-filled cavities of the brain); and giant-cell astrocytomas, a type of tumor that can block the flow of fluids within the brain.",Tuberous Sclerosis,0000273,NINDS,http://www.ninds.nih.gov/disorders/tuberous_sclerosis/tuberous_sclerosis.htm,C0041341,T191,Disorders What are the treatments for Tuberous Sclerosis ?,0000273-2,treatment,"There is no cure for TSC, although treatment is available for a number of the symptoms. Rapamycin and related drugs are not yet approved by the U.S. Food and Drug Administration (FDA) for any purpose in individuals with TSC. The FDA has approved the drug everolimus (Afinitor) to treat subependymal giant cell astrocytomas (SEGA brain tumors) and angiomyolipoma kidney tumors. Antiepileptic drugs such as vigabatrin may be used to control seizures and medications may be prescribed for behavior problems. Intervention programs, including special schooling and occupational therapy, may benefit individuals with special needs and developmental issues. Surgery, including dermabrasion and laser treatment, may be useful for treatment of skin lesions. Because TSC is a lifelong condition, individuals need to be regularly monitored by a doctor. Due to the many varied symptoms of TSC, care by a clinician experienced with the disorder is recommended.",Tuberous Sclerosis,0000273,NINDS,http://www.ninds.nih.gov/disorders/tuberous_sclerosis/tuberous_sclerosis.htm,C0041341,T191,Disorders What is the outlook for Tuberous Sclerosis ?,0000273-3,outlook,"The prognosis for individuals with TSC depends on the severity of symptoms. Individuals with mild symptoms generally do well and live long productive lives, while individuals with the more severe form may have serious disabilities. In rare cases, seizures, infections, or tumors in vital organs such as the kidneys and brain can lead to severe complications and even death. However, with appropriate medical care, most individuals with the disorder can look forward to normal life expectancy.",Tuberous Sclerosis,0000273,NINDS,http://www.ninds.nih.gov/disorders/tuberous_sclerosis/tuberous_sclerosis.htm,C0041341,T191,Disorders what research (or clinical trials) is being done for Tuberous Sclerosis ?,0000273-4,research,"The National Institute of Neurological Disorders and Stroke (NINDS) conducts TSC research in its laboratories at the National Institutes of Health (NIH) and also supports TSC research through grants to major medical institutions across the country. Scientists in one study are learning more about the genes that can cause TSC and the function of the proteins those genes produce. Another study focuses on two major brain disorders --autism and epilepsy -- that occur in children with TSC. Other scientists are trying to determine what causes skin tumors to develop in individuals with TSC and to find the molecular basis of these tumors. Scientists hope knowledge gained from their current research will improve the genetic test for TSC and lead to new avenues of treatment, methods of prevention, and, ultimately, a cure.",Tuberous Sclerosis,0000273,NINDS,http://www.ninds.nih.gov/disorders/tuberous_sclerosis/tuberous_sclerosis.htm,C0041341,T191,Disorders What is (are) Whiplash ?,0000274-1,information,"Whiplash-a soft tissue injury to the neck-is also called neck sprain or neck strain. It is characterized by a collection of symptoms that occur following damage to the neck, usually because of sudden extension and flexion. The disorder commonly occurs as the result of an automobile accident and may include injury to intervertebral joints, discs, and ligaments, cervical muscles, and nerve roots. Symptoms such as neck pain may be present directly after the injury or may be delayed for several days. In addition to neck pain, other symptoms may include neck stiffness, injuries to the muscles and ligaments (myofascial injuries), headache, dizziness, abnormal sensations such as burning or prickling (paresthesias), or shoulder or back pain. In addition, some people experience cognitive, somatic, or psychological conditions such as memory loss, concentration impairment, nervousness/irritability, sleep disturbances, fatigue, or depression.",Whiplash,0000274,NINDS,http://www.ninds.nih.gov/disorders/whiplash/whiplash.htm,C0043145,T037,Disorders What are the treatments for Whiplash ?,0000274-2,treatment,"Treatment for individuals with whiplash may include pain medications, nonsteroidal anti-inflammatory drugs, antidepressants, muscle relaxants, and a cervical collar (usually worn for 2 to 3 weeks). Range of motion exercises, physical therapy, and cervical traction may also be prescribed. Supplemental heat application may relieve muscle tension.",Whiplash,0000274,NINDS,http://www.ninds.nih.gov/disorders/whiplash/whiplash.htm,C0043145,T037,Disorders What is the outlook for Whiplash ?,0000274-3,outlook,"Generally, prognosis for individuals with whiplash is good. The neck and head pain clears within a few days or weeks. Most patients recover within 3 months after the injury, however, some may continue to have residual neck pain and headaches.",Whiplash,0000274,NINDS,http://www.ninds.nih.gov/disorders/whiplash/whiplash.htm,C0043145,T037,Disorders what research (or clinical trials) is being done for Whiplash ?,0000274-4,research,The NINDS conducts and supports research on trauma-related disorders such as whiplash. Much of this research focuses on increasing scientific understanding of these disorders and finding ways to prevent and treat them.,Whiplash,0000274,NINDS,http://www.ninds.nih.gov/disorders/whiplash/whiplash.htm,C0043145,T037,Disorders What is (are) Williams Syndrome ?,0000275-1,information,"Williams Syndrome (WS) is a rare genetic disorder characterized by mild to moderate delays in cognitive development or learning difficulties, a distinctive facial appearance, and a unique personality that combines over-friendliness and high levels of empathy with anxiety. The most significant medical problem associated with WS is cardiovascular disease caused by narrowed arteries. WS is also associated with elevated blood calcium levels in infancy. A random genetic mutation (deletion of a small piece of chromosome 7), rather than inheritance, most often causes the disorder. However, individuals who have WS have a 50 percent chance of passing it on if they decide to have children. The characteristic facial features of WS include puffiness around the eyes, a short nose with a broad nasal tip, wide mouth, full cheeks, full lips, and a small chin. People with WS are also likely to have a long neck, sloping shoulders, short stature, limited mobility in their joints, and curvature of the spine. Some individuals with WS have a star-like pattern in the iris of their eyes. Infants with WS are often irritable and colicky, with feeding problems that keep them from gaining weight. Chronic abdominal pain is common in adolescents and adults. By age 30, the majority of individuals with WS have diabetes or pre-diabetes and mild to moderate sensorineural hearing loss (a form of deafness due to disturbed function of the auditory nerve). For some people, hearing loss may begin as early as late childhood. WS also is associated with a characteristic cognitive profile of mental strengths and weaknesses composed of strengths in verbal short-term memory and language, combined with severe weakness in visuospatial construction (the skills used to copy patterns, draw, or write). Within language, the strongest skills are typically in concrete, practical vocabulary, which in many cases is in the low average to average range for the general population. Abstract or conceptual-relational vocabulary is much more limited. Most older children and adults with WS speak fluently and use good grammar. More than 50% of children with WS have attention deficit disorders (ADD or ADHD), and about 50% have specific phobias, such as a fear of loud noises. The majority of individuals with WS worry excessively.",Williams Syndrome,0000275,NINDS,http://www.ninds.nih.gov/disorders/williams/williams.htm,C0175702,T019,Disorders What are the treatments for Williams Syndrome ?,0000275-2,treatment,"There is no cure for Williams syndrome, nor is there a standard course of treatment. Because WS is an uncommon and complex disorder, multidisciplinary clinics have been established at several centers in the United States . Treatments are based on an individuals particular symptoms. People with WS require regular cardiovascular monitoring for potential medical problems, such as symptomatic narrowing of the blood vessels, high blood pressure, and heart failure",Williams Syndrome,0000275,NINDS,http://www.ninds.nih.gov/disorders/williams/williams.htm,C0175702,T019,Disorders What is the outlook for Williams Syndrome ?,0000275-3,outlook,"The prognosis for individuals with WS varies. Some degree of impaired intellect is found in most people with the disorder. Some adults are able to function independently, complete academic or vocational school, and live in supervised homes or on their own; most live with a caregiver. Parents can increase the likelihood that their child will be able to live semi-independently by teaching self-help skills early. Early intervention and individualized educational programs designed with the distinct cognitive and personality profiles of WS in mind also help individuals maximize their potential. Medical complications associated with the disorder may shorten the lifespans of some individuals with WS.",Williams Syndrome,0000275,NINDS,http://www.ninds.nih.gov/disorders/williams/williams.htm,C0175702,T019,Disorders what research (or clinical trials) is being done for Williams Syndrome ?,0000275-4,research,"The National Institutes of Health (NIH), and the National Institute of Neurological Disorders and Stroke (NINDS), have funded many of the research studies exploring the genetic and neurobiological origins of WS. In the early 1990s, researchers located and identified the genetic mutation responsible for the disorder: the deletion of a small section of chromosome 7 that contains approximately 25 genes. NINDS continues to support WS researchers including, for example, groups that are attempting to link specific genes with the corresponding facial, cognitive, personality, and neurological characteristics of WS.",Williams Syndrome,0000275,NINDS,http://www.ninds.nih.gov/disorders/williams/williams.htm,C0175702,T019,Disorders What is (are) Wilson Disease ?,0000276-1,information,"Wilson disease (WD) is a rare inherited disorder of copper metabolism in which excessive amounts of copper accumulate in the body. The buildup of copper leads to damage in the liver, brain, and eyes. Although copper accumulation begins at birth, symptoms of the disorder only appear later in life. The most characteristic sign of WD is the Kayser-Fleisher ring a rusty brown ring around the cornea of the eye that can best be viewed using an ophthalmologists slit lamp. The primary consequence for most individuals with WD is liver disease, appearing in late childhood or early adolescence as acute hepatitis, liver failure, or progressive chronic liver disease in the form of chronic active hepatitis or cirrhosis of the liver. In others, the first symptoms are neurological, occur later in adulthood, and commonly include slurred speech (dysarthria), difficulty swallowing (dysphagia), and drooling. Other symptoms may include tremor of the head, arms, or legs; impaired muscle tone, and sustained muscle contractions that produce abnormal postures, twisting, and repetitive movements (dystonia); and slowness of movements (bradykinesia). Individuals may also experience clumsiness (ataxia) and loss of fine motor skills. One-third of individuals with WD will also experience psychiatric symptoms such as an abrupt personality change, bizarre and inappropriate behavior, depression accompanied by suicidal thoughts, neurosis, or psychosis. WD is diagnosed with tests that measure the amount of copper in the blood, urine, and liver.",Wilson Disease,0000276,NINDS,http://www.ninds.nih.gov/disorders/wilsons/wilsons.htm,C0019202,T047,Disorders What are the treatments for Wilson Disease ?,0000276-2,treatment,"WD requires lifelong treatment, generally using drugs that remove excess copper from the body and prevent it from re-accumulating. Zinc, which blocks the absorption of copper in the stomach and causes no serious side effects, is often considered the treatment of choice. Penicillamine and trientine are copper chelators that increase urinary excretion of copper; however, both drugs have some side effects. Tetrathiomolybdate is an investigational copper chelating drug with a lower toxicity profile, but it has not been approved by the Food and Drug Administration for the treatment of WD and its long-term safety and effectiveness arent known. A low-copper diet is also recommended, which involves avoiding mushrooms, nuts, chocolate, dried fruit, liver, and shellfish. In rare cases where there is severe liver disease, a liver transplant may be needed. Symptomatic treatment for symptoms of muscle spasm, stiffness, and tremor may include anticholinergics, tizanidine, baclofen, levodopa, or clonazepam.",Wilson Disease,0000276,NINDS,http://www.ninds.nih.gov/disorders/wilsons/wilsons.htm,C0019202,T047,Disorders What is the outlook for Wilson Disease ?,0000276-3,outlook,"Early onset of the disease may foretell a worse prognosis than later onset. If the disorder is detected early and treated appropriately, an individual with WD can usually enjoy normal health and a normal lifespan. If not treated, however, WD can cause brain damage, liver failure, and death. The disease requires lifelong treatment.",Wilson Disease,0000276,NINDS,http://www.ninds.nih.gov/disorders/wilsons/wilsons.htm,C0019202,T047,Disorders what research (or clinical trials) is being done for Wilson Disease ?,0000276-4,research,"The National Institute of Neurological Disorders and Stroke, the Eunice Kennedy Shriver National Institute of Child Health and Human Development, and other institutes of the National Institutes of Health (NIH) conduct and/or support research related to Wilson disease. Growing knowledge of the copper transporting gene ATP7B, which in its mutated form causes WD, should lead to the design of better therapies for this disorder.",Wilson Disease,0000276,NINDS,http://www.ninds.nih.gov/disorders/wilsons/wilsons.htm,C0019202,T047,Disorders What is (are) Zellweger Syndrome ?,0000277-1,information,"Zellweger syndrome is one of a group of four related diseases called peroxisome biogenesis disorders (PBD). The diseases are caused by defects in any one of 13 genes, termed PEX genes, required for the normal formation and function of peroxisomes. The PBDs are divided into two groups: Zellweger spectrum disorders and Rhizomelic Chondrodysplasia Punctua spectrum. The Zellweger spectrum is comprised of three disorders that have considerable overlap of features. These include Zellweger syndrome (ZS, the most severe form), neonatal adrenoleukodystrophy (NALD), and Infantile Refsum disease (IRD, the least severe form). Peroxisomes are cell structures that break down toxic substances and synthesize lipids (fatty acids. oils, and waxes) that are necessary for cell function. Peroxisomes are required for normal brain development and function and the formation of myelin, the whitish substance that coats nerve fibers. They are also required for normal eye, liver, kidney, and bone functions. Zellweger spectrum disorders result from dysfunctional lipid metabolism, including the over-accumulation of very long-chain fatty acids and phytanic acid, and defects of bile acids and plasmalogens--specialized lipids found in cell membranes and myelin sheaths of nerve fibers. Symptoms of these disorders include an enlarged liver; characteristic facial features such as a high forehead, underdeveloped eyebrow ridges, and wide-set eyes; and neurological abnormalities such as cognitive impairment and seizures. Infants will Zellweger syndrome also lack muscle tone, sometimes to the point of being unable to move, and may not be able to suck or swallow. Some babies will be born with glaucoma, retinal degeneration, and impaired hearing. Jaundice and gastrointestinal bleeding also may occur.",Zellweger Syndrome,0000277,NINDS,http://www.ninds.nih.gov/disorders/zellweger/zellweger.htm,C0043459,T019,Disorders What are the treatments for Zellweger Syndrome ?,0000277-2,treatment,"There is no cure for Zellweger syndrome, nor is there a standard course of treatment. Since the metabolic and neurological abnormalities that cause the symptoms of Zellweger syndrome are caused during fetal development, treatments to correct these abnormalities after birth are limited. Most treatments are symptomatic and supportive.",Zellweger Syndrome,0000277,NINDS,http://www.ninds.nih.gov/disorders/zellweger/zellweger.htm,C0043459,T019,Disorders What is the outlook for Zellweger Syndrome ?,0000277-3,outlook,"The prognosis for infants with Zellweger syndrome is poor. Most infants do not survive past the first 6 months, and usually succumb to respiratory distress, gastrointestinal bleeding, or liver failure.",Zellweger Syndrome,0000277,NINDS,http://www.ninds.nih.gov/disorders/zellweger/zellweger.htm,C0043459,T019,Disorders what research (or clinical trials) is being done for Zellweger Syndrome ?,0000277-4,research,"The National Institute of Neurological Disorders and Stroke (NINDS), and other institutes of the National Institutes of Health (NIH), conduct research exploring the molecular and genetic basis of Zellweger syndrome and the other PBDs, and also support additional research through grants to major research institutions across the country. Much of this research focuses on finding better ways to prevent, treat, and ultimately cure disorders such as Zellweger syndrome.",Zellweger Syndrome,0000277,NINDS,http://www.ninds.nih.gov/disorders/zellweger/zellweger.htm,C0043459,T019,Disorders