Druvith/transformed_medDataset huggingface dataset:
What is the outlook for Neuroacanthocytosis ? 
 Neuroacanthocytosis is a progressive disease, and in some cases may be complicated by poor nutritional status, cardiac abnormalities, and pneumonia.
what research (or clinical trials) is being done for Neuroacanthocytosis ? 
 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.
What is (are) Sotos Syndrome ? 
 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.
What are the treatments for Sotos Syndrome ? 
 There is no standard course of treatment for Sotos syndrome. Treatment is symptomatic.
What is the outlook for Sotos Syndrome ? 
 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.
what research (or clinical trials) is being done for Sotos Syndrome ? 
 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.
What is (are) Cerebro-Oculo-Facio-Skeletal Syndrome (COFS) ? 
 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).
What are the treatments for Cerebro-Oculo-Facio-Skeletal Syndrome (COFS) ? 
 Treatment is supportive and symptomatic. Individuals with the disorder often require tube feeding. Because COFS is genetic, genetic counseling is available.
What is the outlook for Cerebro-Oculo-Facio-Skeletal Syndrome (COFS) ? 
 COFS is a fatal disease. Most children do not live beyond five years.
what research (or clinical trials) is being done for Cerebro-Oculo-Facio-Skeletal Syndrome (COFS) ? 
 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.
What is (are) Piriformis Syndrome ? 
 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.
What are the treatments for Piriformis Syndrome ? 
 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.
What is the outlook for Piriformis Syndrome ? 
 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.
what research (or clinical trials) is being done for Piriformis Syndrome ? 
 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.
What is (are) Spinal Cord Infarction ? 
 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.
What are the treatments for Spinal Cord Infarction ? 
 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.
What is the outlook for Spinal Cord Infarction ? 
 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.
what research (or clinical trials) is being done for Spinal Cord Infarction ? 
 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.
What is (are) Repetitive Motion Disorders ? 
 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.
What are the treatments for Repetitive Motion Disorders ? 
 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.
What is the outlook for Repetitive Motion Disorders ? 
 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.
what research (or clinical trials) is being done for Repetitive Motion Disorders ? 
 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.
What is (are) Klippel Feil Syndrome ? 
 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.
What are the treatments for Klippel Feil Syndrome ? 
 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.
What is the outlook for Klippel Feil Syndrome ? 
 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.
what research (or clinical trials) is being done for Klippel Feil Syndrome ? 
 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.
What is (are) Carpal Tunnel Syndrome ? 
 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.
What are the treatments for Carpal Tunnel Syndrome ? 
 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.
What is the outlook for Carpal Tunnel Syndrome ? 
 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.
what research (or clinical trials) is being done for Carpal Tunnel Syndrome ? 
 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.
What is (are) Opsoclonus Myoclonus ? 
 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.
What are the treatments for Opsoclonus Myoclonus ? 
 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.
What is the outlook for Opsoclonus Myoclonus ? 
 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.
what research (or clinical trials) is being done for Opsoclonus Myoclonus ? 
 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.
What is (are) Dysautonomia ? 
 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.
What are the treatments for Dysautonomia ? 
 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.
What is the outlook for Dysautonomia ? 
 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.
what research (or clinical trials) is being done for Dysautonomia ? 
 The NINDS supports and conducts research on dysautonomia. This research aims to discover ways to diagnose, treat, and, ultimately, prevent these disorders.
What is (are) Metachromatic Leukodystrophy ? 
 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.
What are the treatments for Metachromatic Leukodystrophy ? 
 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.
What is the outlook for Metachromatic Leukodystrophy ? 
 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.
what research (or clinical trials) is being done for Metachromatic Leukodystrophy ? 
 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.