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What is (are) Tay-Sachs Disease ?
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 ...
Tay-Sachs Disease
What are the treatments for Tay-Sachs Disease ?
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
What is the outlook for Tay-Sachs Disease ?
Even with the best of care, children with Tay-Sachs disease usually die by age 4, from recurring infection.
Tay-Sachs Disease
what research (or clinical trials) is being done for Tay-Sachs Disease ?
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 biomedic...
Tay-Sachs Disease
What is (are) Rasmussen's Encephalitis ?
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 ...
Rasmussen's Encephalitis
What are the treatments for Rasmussen's Encephalitis ?
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 stage...
Rasmussen's Encephalitis
What is the outlook for Rasmussen's Encephalitis ?
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 ...
Rasmussen's Encephalitis
what research (or clinical trials) is being done for Rasmussen's Encephalitis ?
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 o...
Rasmussen's Encephalitis
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 hair...
Klippel Feil Syndrome
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.
Klippel Feil Syndrome
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.
Klippel Feil Syndrome
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 ...
Klippel Feil Syndrome
What is (are) Sjgren's Syndrome ?
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...
Sjgren's Syndrome
What are the treatments for Sjgren's Syndrome ?
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 individua...
Sjgren's Syndrome
What is the outlook for Sjgren's Syndrome ?
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 symptomati...
Sjgren's Syndrome
what research (or clinical trials) is being done for Sjgren's Syndrome ?
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
What is (are) Gerstmann's Syndrome ?
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 (agraph...
Gerstmann's Syndrome
What are the treatments for Gerstmann's Syndrome ?
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
What is the outlook for Gerstmann's Syndrome ?
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
what research (or clinical trials) is being done for Gerstmann's Syndrome ?
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 in...
Gerstmann's Syndrome
What is (are) Melkersson-Rosenthal Syndrome ?
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 bet...
Melkersson-Rosenthal Syndrome
What are the treatments for Melkersson-Rosenthal Syndrome ?
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 ...
Melkersson-Rosenthal Syndrome
What is the outlook for Melkersson-Rosenthal Syndrome ?
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
what research (or clinical trials) is being done for Melkersson-Rosenthal Syndrome ?
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
What is (are) Kearns-Sayre Syndrome ?
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 correlat...
Kearns-Sayre Syndrome
What are the treatments for Kearns-Sayre Syndrome ?
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 im...
Kearns-Sayre Syndrome
What is the outlook for Kearns-Sayre Syndrome ?
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 be...
Kearns-Sayre Syndrome
what research (or clinical trials) is being done for Kearns-Sayre Syndrome ?
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 mitoch...
Kearns-Sayre Syndrome
What is (are) Myopathy ?
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). My...
Myopathy
What are the treatments for Myopathy ?
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 weakene...
Myopathy
What is the outlook for Myopathy ?
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
what research (or clinical trials) is being done for Myopathy ?
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
What is (are) Wernicke-Korsakoff Syndrome ?
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 men...
Wernicke-Korsakoff Syndrome
What are the treatments for Wernicke-Korsakoff Syndrome ?
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 nut...
Wernicke-Korsakoff Syndrome
What is the outlook for Wernicke-Korsakoff Syndrome ?
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
what research (or clinical trials) is being done for Wernicke-Korsakoff Syndrome ?
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, Korsakof...
Wernicke-Korsakoff Syndrome
What is (are) Dementia ?
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...
Dementia
What are the treatments for Dementia ?
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 car...
Dementia
What is the outlook for Dementia ?
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 s...
Dementia
what research (or clinical trials) is being done for Dementia ?
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 resea...
Dementia
What is (are) Klippel-Trenaunay Syndrome (KTS) ?
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 f...
Klippel-Trenaunay Syndrome (KTS)
What are the treatments for Klippel-Trenaunay Syndrome (KTS) ?
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)
What is the outlook for Klippel-Trenaunay Syndrome (KTS) ?
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)
what research (or clinical trials) is being done for Klippel-Trenaunay Syndrome (KTS) ?
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)
What is (are) Hydrocephalus ?
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 ...
Hydrocephalus
What are the treatments for Hydrocephalus ?
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...
Hydrocephalus
What is the outlook for Hydrocephalus ?
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 treatmen...
Hydrocephalus
what research (or clinical trials) is being done for Hydrocephalus ?
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
What is (are) Fabry Disease ?
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 har...
Fabry Disease
What are the treatments for Fabry Disease ?
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 anticonvu...
Fabry Disease
What is the outlook for Fabry Disease ?
Individuals with Fabry disease often die prematurely of complications from strokes, heart disease, or kidney failure.
Fabry Disease
what research (or clinical trials) is being done for Fabry Disease ?
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...
Fabry Disease
What is (are) Mucopolysaccharidoses ?
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...
Mucopolysaccharidoses
What are the treatments for Mucopolysaccharidoses ?
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 affe...
Mucopolysaccharidoses
What is the outlook for Mucopolysaccharidoses ?
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. Fo...
Mucopolysaccharidoses
what research (or clinical trials) is being done for Mucopolysaccharidoses ?
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 Lysosoma...
Mucopolysaccharidoses
What is (are) Restless Legs Syndrome ?
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 sev...
Restless Legs Syndrome
What are the treatments for Restless Legs Syndrome ?
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, a...
Restless Legs Syndrome
What is the outlook for Restless Legs Syndrome ?
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...
Restless Legs Syndrome
what research (or clinical trials) is being done for Restless Legs Syndrome ?
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, ...
Restless Legs Syndrome
What is (are) Cerebellar Degeneration ?
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 cort...
Cerebellar Degeneration
what research (or clinical trials) is being done for Cerebellar Degeneration ?
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 d...
Cerebellar Degeneration
What is (are) Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) ?
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 ...
Chronic Inflammatory Demyelinating Polyneuropathy (CIDP)
What are the treatments for Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) ?
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 stre...
Chronic Inflammatory Demyelinating Polyneuropathy (CIDP)
What is the outlook for Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) ?
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 recom...
Chronic Inflammatory Demyelinating Polyneuropathy (CIDP)
what research (or clinical trials) is being done for Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) ?
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)
What is (are) Complex Regional Pain Syndrome ?
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 enti...
Complex Regional Pain Syndrome
What are the treatments for Complex Regional Pain Syndrome ?
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...
Complex Regional Pain Syndrome
What is the outlook for Complex Regional Pain Syndrome ?
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
what research (or clinical trials) is being done for Complex Regional Pain Syndrome ?
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 approach...
Complex Regional Pain Syndrome
What is (are) Iniencephaly ?
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 extrem...
Iniencephaly
What are the treatments for Iniencephaly ?
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 wi...
Iniencephaly
What is the outlook for Iniencephaly ?
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
what research (or clinical trials) is being done for Iniencephaly ?
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 resea...
Iniencephaly
What is (are) Autism ?
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 exhib...
Autism
What are the treatments for Autism ?
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...
Autism
What is the outlook for Autism ?
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...
Autism
what research (or clinical trials) is being done for Autism ?
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 sis...
Autism
What is (are) Leigh's Disease ?
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 ...
Leigh's Disease
What are the treatments for Leigh's Disease ?
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 ...
Leigh's Disease
What is the outlook for Leigh's Disease ?
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...
Leigh's Disease
what research (or clinical trials) is being done for Leigh's Disease ?
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
What is (are) Asperger Syndrome ?
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 ASD...
Asperger Syndrome
What are the treatments for Asperger Syndrome ?
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,...
Asperger Syndrome
What is the outlook for Asperger Syndrome ?
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 ...
Asperger Syndrome
what research (or clinical trials) is being done for Asperger Syndrome ?
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 th...
Asperger Syndrome
What is (are) Troyer Syndrome ?
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) ...
Troyer Syndrome
What are the treatments for Troyer Syndrome ?
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
What is the outlook for Troyer Syndrome ?
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
what research (or clinical trials) is being done for Troyer Syndrome ?
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, trea...
Troyer Syndrome
What is (are) Tourette Syndrome ?
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 ...
Tourette Syndrome
What are the treatments for Tourette Syndrome ?
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 comple...
Tourette Syndrome
What is the outlook for Tourette Syndrome ?
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 medic...
Tourette Syndrome
what research (or clinical trials) is being done for Tourette Syndrome ?
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 ...
Tourette Syndrome
What is (are) Multiple Sclerosis ?
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 ...
Multiple Sclerosis
What are the treatments for Multiple Sclerosis ?
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 r...
Multiple Sclerosis
What is the outlook for Multiple Sclerosis ?
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 patient...
Multiple Sclerosis
what research (or clinical trials) is being done for Multiple Sclerosis ?
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 effort...
Multiple Sclerosis
What is (are) Muscular Dystrophy ?
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 ...
Muscular Dystrophy
What are the treatments for Muscular Dystrophy ?
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...
Muscular Dystrophy