sarnsrun/medquad huggingface dataset:
Topic: Myoclonus
Question: What is the outlook for Myoclonus ?
Answer: 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.
Source: NINDS
Topic: Myoclonus
Question: what research (or clinical trials) is being done for Myoclonus ?
Answer: 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.
Source: NINDS
Topic: Aicardi-Goutieres Syndrome Disorder
Question: What is (are) Aicardi-Goutieres Syndrome Disorder ?
Answer: 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).
Source: NINDS
Topic: Aicardi-Goutieres Syndrome Disorder
Question: What are the treatments for Aicardi-Goutieres Syndrome Disorder ?
Answer: 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.
Source: NINDS
Topic: Aicardi-Goutieres Syndrome Disorder
Question: What is the outlook for Aicardi-Goutieres Syndrome Disorder ?
Answer: 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.
Source: NINDS
Topic: Aicardi-Goutieres Syndrome Disorder
Question: what research (or clinical trials) is being done for Aicardi-Goutieres Syndrome Disorder ?
Answer: 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.
Source: NINDS
Topic: Encephaloceles
Question: What is (are) Encephaloceles ?
Answer: 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.
Source: NINDS
Topic: Encephaloceles
Question: What are the treatments for Encephaloceles ?
Answer: 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.
Source: NINDS
Topic: Encephaloceles
Question: What is the outlook for Encephaloceles ?
Answer: 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.
Source: NINDS
Topic: Encephaloceles
Question: what research (or clinical trials) is being done for Encephaloceles ?
Answer: 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.
Source: NINDS
Topic: Absence of the Septum Pellucidum
Question: What is (are) Absence of the Septum Pellucidum ?
Answer: 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.
Source: NINDS
Topic: Absence of the Septum Pellucidum
Question: What are the treatments for Absence of the Septum Pellucidum ?
Answer: 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.
Source: NINDS
Topic: Absence of the Septum Pellucidum
Question: What is the outlook for Absence of the Septum Pellucidum ?
Answer: 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.
Source: NINDS
Topic: Absence of the Septum Pellucidum
Question: what research (or clinical trials) is being done for Absence of the Septum Pellucidum ?
Answer: 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.
Source: NINDS
Topic: Schilder's Disease
Question: What is (are) Schilder's Disease ?
Answer: 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.
Source: NINDS
Topic: Schilder's Disease
Question: What are the treatments for Schilder's Disease ?
Answer: Treatment for the disorder follows the established standards in multiple sclerosis and includes corticosteroids, beta-interferon or immunosuppressive therapy, and symptomatic treatment.
Source: NINDS
Topic: Schilder's Disease
Question: What is the outlook for Schilder's Disease ?
Answer: 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.
Source: NINDS
Topic: Schilder's Disease
Question: what research (or clinical trials) is being done for Schilder's Disease ?
Answer: 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.
Source: NINDS
Topic: Schizencephaly
Question: What is (are) Schizencephaly ?
Answer: 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.
Source: NINDS
Topic: Schizencephaly
Question: What are the treatments for Schizencephaly ?
Answer: 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.
Source: NINDS
Topic: Schizencephaly
Question: What is the outlook for Schizencephaly ?
Answer: The prognosis for individuals with schizencephaly varies depending on the size of the clefts and the extent of neurological disabilities.
Source: NINDS
Topic: Schizencephaly
Question: what research (or clinical trials) is being done for Schizencephaly ?
Answer: 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.
Source: NINDS
Topic: Pinched Nerve
Question: What is (are) Pinched Nerve ?
Answer: 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.
Source: NINDS
Topic: Pinched Nerve
Question: What are the treatments for Pinched Nerve ?
Answer: 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.
Source: NINDS
Topic: Pinched Nerve
Question: What is the outlook for Pinched Nerve ?
Answer: With treatment, most people recover from pinched nerve. However, in some cases, the damage is irreversible.
Source: NINDS
Topic: Pinched Nerve
Question: what research (or clinical trials) is being done for Pinched Nerve ?
Answer: 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.
Source: NINDS
Topic: Leukodystrophy
Question: What is (are) Leukodystrophy ?
Answer: 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.
Source: NINDS
Topic: Leukodystrophy
Question: What are the treatments for Leukodystrophy ?
Answer: 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.
Source: NINDS
Topic: Leukodystrophy
Question: What is the outlook for Leukodystrophy ?
Answer: The prognosis for the leukodystrophies varies according to the specific type of leukodystrophy.
Source: NINDS
Topic: Leukodystrophy
Question: what research (or clinical trials) is being done for Leukodystrophy ?
Answer: 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.
Source: NINDS
Topic: Huntington's Disease
Question: What is (are) Huntington's Disease ?
Answer: 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.
Source: NINDS
Topic: Huntington's Disease
Question: What are the treatments for Huntington's Disease ?
Answer: 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.
Source: NINDS
Topic: Huntington's Disease
Question: What is the outlook for Huntington's Disease ?
Answer: 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.
Source: NINDS