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outlook
What is the outlook for Hypertonia ?
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 hea...
research
what research (or clinical trials) is being done for Hypertonia ?
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.
information
What is (are) Friedreich's Ataxia ?
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 muscl...
treatment
What are the treatments for Friedreich's Ataxia ?
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 defor...
outlook
What is the outlook for Friedreich's Ataxia ?
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 wit...
research
what research (or clinical trials) is being done for Friedreich's Ataxia ?
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 func...
information
What is (are) Wilson Disease ?
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 characteristi...
treatment
What are the treatments for Wilson Disease ?
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 ...
outlook
What is the outlook for Wilson Disease ?
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 lifelon...
research
what research (or clinical trials) is being done for Wilson Disease ?
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 A...
information
What is (are) Cerebral Aneurysms ?
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 ...
treatment
What are the treatments for Cerebral Aneurysms ?
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 ne...
outlook
What is the outlook for Cerebral Aneurysms ?
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 cerebra...
research
what research (or clinical trials) is being done for Cerebral Aneurysms ?
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 aneurys...
information
What is (are) Charcot-Marie-Tooth Disease ?
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 af...
treatment
What are the treatments for Charcot-Marie-Tooth Disease ?
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.
outlook
What is the outlook for Charcot-Marie-Tooth Disease ?
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 sen...
research
what research (or clinical trials) is being done for Charcot-Marie-Tooth Disease ?
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 ...
information
What is (are) Alternating Hemiplegia ?
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 ...
treatment
What are the treatments for Alternating Hemiplegia ?
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
outlook
What is the outlook for Alternating Hemiplegia ?
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.
research
what research (or clinical trials) is being done for Alternating Hemiplegia ?
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.
information
What is (are) Meralgia Paresthetica ?
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 sensi...
treatment
What are the treatments for Meralgia Paresthetica ?
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 wh...
outlook
What is the outlook for Meralgia Paresthetica ?
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.
research
what research (or clinical trials) is being done for Meralgia Paresthetica ?
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.
information
What is (are) Neurosyphilis ?
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 sig...
treatment
What are the treatments for Neurosyphilis ?
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 pro...
outlook
What is the outlook for Neurosyphilis ?
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 ...
research
what research (or clinical trials) is being done for Neurosyphilis ?
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.
information
What is (are) Neuromyelitis Optica ?
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 t...
treatment
What are the treatments for Neuromyelitis Optica ?
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 ant...
outlook
What is the outlook for Neuromyelitis Optica ?
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 t...
research
what research (or clinical trials) is being done for Neuromyelitis Optica ?
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 r...
information
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 ...
treatment
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.
outlook
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.
research
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...
information
What is (are) Dyssynergia Cerebellaris Myoclonica ?
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. Trem...
treatment
What are the treatments for Dyssynergia Cerebellaris Myoclonica ?
Treatment of Dyssynergia Cerebellaris Myoclonica is symptomatic. Myoclonus and seizures may be treated with drugs like valproate.
outlook
What is the outlook for Dyssynergia Cerebellaris Myoclonica ?
The progression of the disorder is usually 10 years or longer.
research
what research (or clinical trials) is being done for Dyssynergia Cerebellaris Myoclonica ?
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.
information
What is (are) Encephalopathy ?
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 sol...
treatment
What are the treatments for Encephalopathy ?
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 c...
outlook
What is the outlook for Encephalopathy ?
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.
research
what research (or clinical trials) is being done for Encephalopathy ?
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.
information
What is (are) Sturge-Weber Syndrome ?
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 surfac...
treatment
What are the treatments for Sturge-Weber Syndrome ?
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 cas...
outlook
What is the outlook for Sturge-Weber Syndrome ?
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. Pro...
research
what research (or clinical trials) is being done for Sturge-Weber Syndrome ?
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.
information
What is (are) Kennedy's Disease ?
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 th...
treatment
What are the treatments for Kennedy's Disease ?
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.
outlook
What is the outlook for Kennedy's Disease ?
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.
research
what research (or clinical trials) is being done for Kennedy's Disease ?
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.
information
What is (are) Neurofibromatosis ?
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 ...
treatment
What are the treatments for Neurofibromatosis ?
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 ...
outlook
What is the outlook for Neurofibromatosis ?
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 ...
research
what research (or clinical trials) is being done for Neurofibromatosis ?
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...
information
What is (are) Aicardi-Goutieres Syndrome Disorder ?
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 af...
treatment
What are the treatments for Aicardi-Goutieres Syndrome Disorder ?
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...
outlook
What is the outlook for Aicardi-Goutieres Syndrome Disorder ?
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...
research
what research (or clinical trials) is being done for Aicardi-Goutieres Syndrome Disorder ?
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 ...
information
What is (are) Pseudotumor Cerebri ?
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...
treatment
What are the treatments for Pseudotumor Cerebri ?
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 requir...
outlook
What is the outlook for Pseudotumor Cerebri ?
The disorder may cause progressive, permanent visual loss in some patients. In some cases, pseudotumor cerebri recurs.
research
what research (or clinical trials) is being done for Pseudotumor Cerebri ?
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.
information
What is (are) Schilder's Disease ?
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, mus...
treatment
What are the treatments for Schilder's Disease ?
Treatment for the disorder follows the established standards in multiple sclerosis and includes corticosteroids, beta-interferon or immunosuppressive therapy, and symptomatic treatment.
outlook
What is the outlook for Schilder's Disease ?
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.
research
what research (or clinical trials) is being done for Schilder's Disease ?
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.
information
What is (are) Tarlov Cysts ?
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, buttoc...
treatment
What are the treatments for Tarlov Cysts ?
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 co...
outlook
What is the outlook for Tarlov Cysts ?
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.
research
what research (or clinical trials) is being done for Tarlov Cysts ?
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.
information
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 ...
treatment
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...
outlook
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...
research
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...
information
What is (are) Moebius Syndrome ?
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 inabi...
treatment
What are the treatments for Moebius Syndrome ?
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...
outlook
What is the outlook for Moebius Syndrome ?
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.
research
what research (or clinical trials) is being done for Moebius Syndrome ?
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.
information
What is (are) Thyrotoxic Myopathy ?
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. Thyroi...
treatment
What are the treatments for Thyrotoxic Myopathy ?
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.
outlook
What is the outlook for Thyrotoxic Myopathy ?
With treatment, muscle weakness may improve or be reversed.
research
what research (or clinical trials) is being done for Thyrotoxic Myopathy ?
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.
information
What is (are) Neuroacanthocytosis ?
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-a...
treatment
What are the treatments for Neuroacanthocytosis ?
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...
outlook
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.
research
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...
information
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 (macrocrani...
treatment
What are the treatments for Sotos Syndrome ?
There is no standard course of treatment for Sotos syndrome. Treatment is symptomatic.
outlook
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 ...
research
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 un...
information
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, microce...
treatment
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.
outlook
What is the outlook for Cerebro-Oculo-Facio-Skeletal Syndrome (COFS) ?
COFS is a fatal disease. Most children do not live beyond five years.
research
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.
information
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...
treatment
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 so...