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outlook
What is the outlook for Ataxia Telangiectasia ?
Average lifespan has been improving for years, for unknown reasons, and varies with the severity of the underlying mutations, ATM (ataxia-telangiectasia mutated) protein levels, and residual ATM kinase activity. Some individuals with later onset of disease and slower progression survive into their 50s.
research
what research (or clinical trials) is being done for Ataxia Telangiectasia ?
NINDS-supported researchers discovered the gene responsible for A-T, known as ATM (ataxia-telangiectasia mutated) in 1995. This gene makes a protein that activates many (probably more than 700) other proteins that control cell cycle, DNA repair, and cell death. Without it, cells are unable to activate the cellular chec...
information
What is (are) Klver-Bucy Syndrome ?
Klver-Bucy syndrome is a rare behavioral impairment that is associated with damage to both of the anterior temporal lobes of the brain. It causes individuals to put objects in their mouths and engage in inappropriate sexual behavior. Other symptoms may include visual agnosia (inability to visually recognize objects), l...
treatment
What are the treatments for Klver-Bucy Syndrome ?
Treatment is symptomatic and supportive, and may include drug therapy.
outlook
What is the outlook for Klver-Bucy Syndrome ?
There is no cure for Klver-Bucy syndrome. The disorder is not life-threatening, but the patient can be difficult to manage. With treatment, symptoms may slowly decline.
research
what research (or clinical trials) is being done for Klver-Bucy Syndrome ?
NINDS supports and conducts research on neurobehavioral disorders such as Klver-Bucy syndrome. Much of the research focuses on learning more about these disorders and finding ways to prevent and treat them.
information
What is (are) Niemann-Pick Disease ?
Niemann-Pick disease (NP) refers to a group of inherited metabolic disorders known as lipid storage diseases. Lipids (fatty materials such as waxes, fatty acids, oils, and cholesterol) and proteins are usually broken down into smaller components to provide energy for the body. In Niemann-Pick disease, harmful quantitie...
treatment
What are the treatments for Niemann-Pick Disease ?
There is currently no cure for Niemann-Pick disease. Treatment is supportive. Children usually die from infection or progressive neurological loss. There is currently no effective treatment for persons with type A. Bone marrow transplantation has been attempted in a few individuals with type B. The development of enzym...
outlook
What is the outlook for Niemann-Pick Disease ?
Infants with type A die in infancy. Children with Type B may live a comparatively long time, but may require supplemental oxygen because of lung impairment. The life expectancy of persons with type C varies: some individuals die in childhood while others who appear to be less severely affected can live into adulthood.
research
what research (or clinical trials) is being done for Niemann-Pick Disease ?
The National Institute of Neurological Disorders and Stroke (NINDS), a part of the National Institutes of Health (NIH), conducts and supports research about Niemann-Pick disease through research grants to research institutions across the country. Investigators at the NINDS have identified two different genes that, when...
information
What is (are) Lennox-Gastaut Syndrome ?
Lennox-Gastaut syndrome is a severe form of epilepsy. Seizures usually begin before 4 years of age. Seizure types, which vary among patients, include tonic (stiffening of the body, upward deviation of the eyes, dilation of the pupils, and altered respiratory patterns), atonic (brief loss of muscle tone and consciousnes...
treatment
What are the treatments for Lennox-Gastaut Syndrome ?
Treatment for Lennox-Gastaut syndrome includes clobazam and anti-epileptic medications such as valproate, lamotrigine, felbamate, or topiramate. There is usually no single antiepileptic medication that will control seizures. Children who improve initially may later show tolerance to a drug or have uncontrollable seizur...
outlook
What is the outlook for Lennox-Gastaut Syndrome ?
The prognosis for individuals with Lennox-Gastaut syndrome varies. There is no cure for the disorder. Complete recovery, including freedom from seizures and normal development, is very unusual.
research
what research (or clinical trials) is being done for Lennox-Gastaut Syndrome ?
The NINDS conducts and supports a broad program of basic and clinical research on epilepsy including Lennox-Gastaut syndrome. These studies are aimed at finding the causes of these disorders, improving the diagnosis, and developing new medications and other therapies.
information
What is (are) Paresthesia ?
Paresthesia refers to a burning or prickling sensation that is usually felt in the hands, arms, legs, or feet, but can also occur in other parts of the body. The sensation, which happens without warning, is usually painless and described as tingling or numbness, skin crawling, or itching. Most people have experienced ...
treatment
What are the treatments for Paresthesia ?
The appropriate treatment for paresthesia depends on accurate diagnosis of the underlying cause.
outlook
What is the outlook for Paresthesia ?
The prognosis for those with paresthesia depends on the severity of the sensations and the associated disorders.
research
what research (or clinical trials) is being done for Paresthesia ?
The NINDS supports research on disorders of the brain, spinal cord, and peripheral nerves that can cause paresthesia. The goals of this research are to increase scientific understanding of these disorders and to find ways to prevent, treat, and cure them.
information
What is (are) Myoclonus ?
Myoclonus refers to a sudden, involuntary jerking of a muscle or group of muscles. In its simplest form, myoclonus consists of a muscle twitch followed by relaxation. A hiccup is an example of this type of myoclonus. Other familiar examples of myoclonus are the jerks or "sleep starts" that some people experience while ...
treatment
What are the treatments for Myoclonus ?
Treatment of myoclonus focuses on medications that may help reduce symptoms. The drug of first choice is clonazepam, a type of tranquilizer. Many of the drugs used for myoclonus, such as barbiturates, phenytoin, and primidone, are also used to treat epilepsy. Sodium valproate is an alternative therapy for myoclonus and...
outlook
What is the outlook for Myoclonus ?
Simple forms of myoclonus occur in normal, healthy persons and cause no difficulties. In some cases, myoclonus begins in one region of the body and spreads to muscles in other areas. More severe cases of myoclonus can distort movement and severely limit a person's ability to eat, talk, or walk. These types of myoclonus...
research
what research (or clinical trials) is being done for Myoclonus ?
The National Institute of Neurological Disorders and Stroke (NINDS) conducts research relating to myoclonus in its laboratories at the National Institutes of Health (NIH) and also supports additional research through grants to major medical institutions across the country. Scientists are seeking to understand the under...
information
What is (are) Dermatomyositis ?
Dermatomyositis is one of a group of muscle diseases known as the inflammatory myopathies, which are characterized by chronic muscle inflammation accompanied by muscle weakness. Dermatomyositis cardinal symptom is a skin rash that precedes, accompanies, or follows progressive muscle weakness. The rash looks patchy, wit...
treatment
What are the treatments for Dermatomyositis ?
There is no cure for dermatomyositis, but the symptoms can be treated. Options include medication, physical therapy, exercise, heat therapy (including microwave and ultrasound), orthotics and assistive devices, and rest. The standard treatment for dermatomyositis is a corticosteroid drug, given either in pill form or i...
outlook
What is the outlook for Dermatomyositis ?
Most cases of dermatomyositis respond to therapy. The disease is usually more severe and resistant to therapy in individuals with cardiac or pulmonary problems.
research
what research (or clinical trials) is being done for Dermatomyositis ?
The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research relating to dermatomyositis in laboratories at the NIH and support additional research through grants to major medical institutions across the country. Currently funded re...
information
What is (are) Agnosia ?
Agnosia is a rare disorder characterized by an inability to recognize and identify objects or persons. People with agnosia may have difficulty recognizing the geometric features of an object or face or may be able to perceive the geometric features but not know what the object is used for or whether a face is familiar ...
treatment
What are the treatments for Agnosia ?
Treatment is generally symptomatic and supportive. The primary cause of the disorder should be determined in order to treat other problems that may contribute to or result in agnosia.
outlook
What is the outlook for Agnosia ?
Agnosia can compromise quality of life.
research
what research (or clinical trials) is being done for Agnosia ?
The NINDS supports research on disorders of the brain such as agnosia with the goal of finding ways to prevent or cure them.
information
What is (are) Rett Syndrome ?
Rett syndrome is a childhood neurodevelopmental disorder that affects females almost exclusively. The child generally appears to grow and develop normally, before symptoms begin. Loss of muscle tone is usually the first symptom. Other early symptoms may include a slowing of development, problems crawling or walking, an...
treatment
What are the treatments for Rett Syndrome ?
There is no cure for Rett syndrome. Treatment for the disorder is symptomatic, focusing on the management of symptoms, and supportive. Medication may be needed for breathing irregularities and motor difficulties, and antiepileptic drugs may be used to control seizures. Occupational therapy, physiotherapy, and hydrother...
outlook
What is the outlook for Rett Syndrome ?
The course of Rett syndrome, including the age of onset and the severity of symptoms, varies from child to child. Despite the difficulties with symptoms, most individuals with Rett syndrome continue to live well into middle age and beyond. Because the disorder is rare, very little is known about long-term prognosis and...
research
what research (or clinical trials) is being done for Rett Syndrome ?
The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research related to Rett syndrome in laboratories at the NIH, and also support additional Rett syndrome research through grants to major medical institutions across the country. Th...
information
What is (are) Brachial Plexus Injuries ?
The brachial plexus is a network of nerves that conducts signals from the spine to the shoulder, arm, and hand. Brachial plexus injuries are caused by damage to those nerves. Symptoms may include a limp or paralyzed arm; lack of muscle control in the arm, hand, or wrist; and a lack of feeling or sensation in the arm or...
treatment
What are the treatments for Brachial Plexus Injuries ?
Some brachial plexus injuries may heal without treatment. Many children who are injured during birth improve or recover by 3 to 4 months of age. Treatment for brachial plexus injuries includes physical therapy and, in some cases, surgery.
outlook
What is the outlook for Brachial Plexus Injuries ?
The site and type of brachial plexus injury determines the prognosis. For avulsion and rupture injuries, there is no potential for recovery unless surgical reconnection is made in a timely manner. The potential for recovery varies for neuroma and neuropraxia injuries. Most individuals with neuropraxia injuries recover ...
research
what research (or clinical trials) is being done for Brachial Plexus Injuries ?
The NINDS conducts and supports research on injuries to the nervous system such as brachial plexus injuries. Much of this research is aimed at finding ways to prevent and treat these disorders.
information
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...
treatment
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...
outlook
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...
research
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...
information
What is (are) Motor Neuron Diseases ?
The motor neuron diseases (MNDs) are a group of progressive neurological disorders that destroy cells that control essential muscle activity such as speaking, walking, breathing, and swallowing. Normally, messages from nerve cells in the brain (called upper motor neurons) are transmitted to nerve cells in the brain ste...
treatment
What are the treatments for Motor Neuron Diseases ?
There is no cure or standard treatment for the MNDs. Symptomatic and supportive treatment can help patients be more comfortable while maintaining their quality of life. The drug riluzole (Rilutek), which as of this date is the only drug approved by the U.S. Food and Drug Administration to treat ALS, prolongs life by 2-...
outlook
What is the outlook for Motor Neuron Diseases ?
Prognosis varies depending on the type of MND and the age of onset. Some MNDs, such as primary lateral sclerosis and Kennedy disease, are not fatal and progress slowly. Patients with spinal muscular atrophy may appear to be stable for long periods, but improvement should not be expected. Some MNDs, such as ALS and some...
research
what research (or clinical trials) is being done for Motor Neuron Diseases ?
The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge of the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. The NINDS is a component of the National Institutes of Health (NIH), the leading supporter of biomed...
information
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 ...
treatment
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...
outlook
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...
research
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.
information
What is (are) Encephaloceles ?
Encephaloceles are rare neural tube defects characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull. These defects are caused by failure of the neural tube to close completely during fetal development. The result is a groove down the midline of the upper part of ...
treatment
What are the treatments for Encephaloceles ?
Generally, surgery is performed during infancy to place the protruding tissues back into the skull, remove the sac, and correct the associated craniofacial abnormalities. Even large protrusions can often be removed without causing major functional disability. Hydrocephalus associated with encephaloceles may require sur...
outlook
What is the outlook for Encephaloceles ?
The prognosis for individuals with encephaloceles varies depending on the type of brain tissue involved, the location of the sacs, and the accompanying brain malformations.
research
what research (or clinical trials) is being done for Encephaloceles ?
The NINDS conducts and supports a wide range of studies that explore the complex mechanisms of normal brain development. The knowledge gained from these fundamental studies provides the foundation for understanding how this process can go awry and offers hope for new means to treat and prevent congenital brain disorder...
information
What is (are) Apraxia ?
Apraxia (called "dyspraxia" if mild) is a neurological disorder characterized by loss of the ability to execute or carry out skilled movements and gestures, despite having the desire and the physical ability to perform them. Apraxia results from dysfunction of the cerebral hemispheres of the brain, especially the parie...
treatment
What are the treatments for Apraxia ?
Generally, treatment for individuals with apraxia includes physical, speech,or occupational therapy. If apraxia is a symptom of another disorder, the underlying disorder should be treated.
outlook
What is the outlook for Apraxia ?
The prognosis for individuals with apraxia varies and depends partly on the underlying cause. Some individuals improve significantly while others may show very little improvement.
research
what research (or clinical trials) is being done for Apraxia ?
The NINDS supports research on movement disorders and conditions such as apraxia. The goals of this research are to increase scientific understanding of these disorders, and to find ways to prevent, treat, and cure them.
information
What is (are) Paraneoplastic Syndromes ?
Paraneoplastic syndromes are a group of rare disorders that are triggered by an abnormal immune system response to a cancerous tumor known as a "neoplasm." Paraneoplastic syndromes are thought to happen when cancer-fighting antibodies or white blood cells (known as T cells) mistakenly attack normal cells in the nervous...
treatment
What are the treatments for Paraneoplastic Syndromes ?
When present, the tumor and cancer are treated first, followed by efforts to decrease the autoimmune response -- either through steroids such as cortisone or prednisone, high-dose intravenous immunoglobulin, or irradiation. Plasmapheresis, a process that cleanses antibodies from the blood, may ease symptoms in people w...
outlook
What is the outlook for Paraneoplastic Syndromes ?
There are no cures for paraneoplastic syndromes. There are no available treatments to stop progressive neurological damage. Generally, the stage of cancer at diagnosis determines the outcome.
research
what research (or clinical trials) is being done for Paraneoplastic Syndromes ?
Research on paraneoplastic syndromes is aimed at enhancing scientific understanding and evaluating new therapeutic interventions. Researchers seek to learn what causes the autoimmune response in these disorders. Studies are directed at developing tests that detect the presence of antibodies. Scientists also hope to dev...
information
What is (are) Megalencephaly ?
Megalencephaly, also called macrencephaly, is a condition in which an infant or child has an abnormally large, heavy, and usually malfunctioning brain. By definition, the brain weight is greater than average for the age and gender of the child. Head enlargement may be evident at birth or the head may become abnormally ...
treatment
What are the treatments for Megalencephaly ?
There is no standard treatment for megalencephaly. Treatment will depend upon the disorder with which the megalencephaly is associated and will address individual symptoms and disabilities.
outlook
What is the outlook for Megalencephaly ?
The prognosis for infants and children with megalencephaly depends upon the underlying cause and the associated neurological disorders. The prognosis for children with hemimegalencephaly is poor.
research
what research (or clinical trials) is being done for Megalencephaly ?
The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research related to megalencephaly in laboratories at the NIH and also support additional research through grants to major medical institutions across the country. Much of this res...
information
What is (are) Diabetic Neuropathy ?
Diabetic neuropathy is a peripheral nerve disorder caused by diabetes or poor blood sugar control. The most common types of diabetic neuropathy result in problems with sensation in the feet. It can develop slowly after many years of diabetes or may occur early in the disease. The symptoms are numbness, pain, or tinglin...
treatment
What are the treatments for Diabetic Neuropathy ?
The goal of treating diabetic neuropathy is to prevent further tissue damage and relieve discomfort. The first step is to bring blood sugar levels under control by diet and medication. Another important part of treatment involves taking special care of the feet by wearing proper fitting shoes and routinely checking the...
outlook
What is the outlook for Diabetic Neuropathy ?
The prognosis for diabetic neuropathy depends largely on how well the underlying condition of diabetes is handled. Treating diabetes may halt progression and improve symptoms of the neuropathy, but recovery is slow. The painful sensations of diabetic neuropathy may become severe enough to cause depression in some patie...
research
what research (or clinical trials) is being done for Diabetic Neuropathy ?
The NINDS conducts and supports research on diabetic neuropathy to increase understanding of the disorder and find ways to prevent and cure it. New medications are currently being examined to assess improvement or stabilization of neuropathic symptoms.
information
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...
treatment
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...
outlook
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.
research
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...
information
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...
research
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...
information
What is (are) Parry-Romberg ?
Parry-Romberg syndrome is a rare disorder characterized by slowly progressive deterioration (atrophy) of the skin and soft tissues of half of the face (hemifacial atrophy), usually the left side. It is more common in females than in males. Initial facial changes usually involve the tissues above the upper jaw (maxilla)...
treatment
What are the treatments for Parry-Romberg ?
There is no cure and there are no treatments that can stop the progression of Parry-Romberg syndrome. Reconstructive or microvascular surgery may be needed to repair wasted tissue. The timing of surgical intervention is generally agreed to be the best following exhaustion of the disease course and completion of facial ...
outlook
What is the outlook for Parry-Romberg ?
The prognosis for individuals with Parry-Romberg syndrome varies. In some cases, the atrophy ends before the entire face is affected. In mild cases, the disorder usually causes no disability other than cosmetic effects.
research
what research (or clinical trials) is being done for Parry-Romberg ?
The NINDS supports research on neurological disorders such as Parry-Romberg syndrome with the goal of finding ways to prevent, treat, and cure them.
information
What is (are) Myotonia Congenita ?
Myotonia congenita is an inherited neuromuscular disorder characterized by the inability of muscles to quickly relax after a voluntary contraction. The condition is present from early childhood, but symptoms can be mild. Most children will be 2 or 3 years old when parents first notice their muscle stiffness, particular...
treatment
What are the treatments for Myotonia Congenita ?
Most people with myotonia congenita dont require special treatments. Stiff muscles usually resolve with exercise, or light movement, especially after resting. For individuals whose symptoms are more limiting, doctors have had some success with medications such as quinine, or anticonvulsant drugs such as phenytoin. Phys...
outlook
What is the outlook for Myotonia Congenita ?
Most individuals with myotonia congenita lead long, productive lives. Although muscle stiffness may interfere with walking, grasping, chewing, and swallowing, it is usually relieved with exercise.
research
what research (or clinical trials) is being done for Myotonia Congenita ?
The National Institute of Neurological Disorders and Stroke (NINDS) conducts research related to myotonia congenita and also supports additional research through grants to major research institutions across the country. Current research is exploring how, at the molecular level, the defective gene in myotonia congenita ...
information
What is (are) Congenital Myopathy ?
A myopathy is a disorder of the muscles that usually results in weakness. Congenital myopathy refers to a group of muscle disorders that appear at birth or in infancy. Typically, an infant with a congenital myopathy will be "floppy," have difficulty breathing or feeding, and will lag behind other babies in meeting norm...
treatment
What are the treatments for Congenital Myopathy ?
Currently, only central core disease has an effective treatment (see above). There are no known cures for any of these disorders. Supportive treatment may involve orthopedic treatments, as well as physical, occupational or speech therapy.
outlook
What is the outlook for Congenital Myopathy ?
When breathing difficulties are severe, and particularly if there is also a problem with feeding and swallowing, infants may die of respiratory failure or complications such as pneumonia. Sometimes muscle weakness can lead to skeletal problems, such as scoliosis, reduced mobility of joints, or hip problems. The heart m...
research
what research (or clinical trials) is being done for Congenital Myopathy ?
The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research related to congenital myopathies in their laboratories at the NIH and also support additional research through grants to major medical institutions across the country. Muc...
information
What is (are) Ataxia ?
Ataxia often occurs when parts of the nervous system that control movement are damaged. People with ataxia experience a failure of muscle control in their arms and legs, resulting in a lack of balance and coordination or a disturbance of gait. While the term ataxia is primarily used to describe this set of symptoms, it...
treatment
What are the treatments for Ataxia ?
There is no cure for the hereditary ataxias. If the ataxia is caused by another condition, that underlying condition is treated first. For example, ataxia caused by a metabolic disorder may be treated with medications and a controlled diet. Vitamin deficiency is treated with vitamin therapy. A variety of drugs may be u...
outlook
What is the outlook for Ataxia ?
The prognosis for individuals with ataxia and cerebellar/spinocerebellar degeneration varies depending on its underlying cause.
research
what research (or clinical trials) is being done for Ataxia ?
The NINDS supports and conducts a broad range of basic and clinical research on cerebellar and spinocerebellar degeneration, including work aimed at finding the cause(s) of ataxias and ways to treat, cure, and, ultimately, prevent them. Scientists are optimistic that understanding the genetics of these disorders may le...
information
What is (are) Septo-Optic Dysplasia ?
Septo-optic dysplasia (SOD) is a rare disorder characterized by abnormal development of the optic disk, pituitary deficiencies, and often agenesis (absence) of the septum pellucidum (the part of the brain that separates the anterior horns or the lateral ventricles of the brain). Symptoms may include blindness in one or...
treatment
What are the treatments for Septo-Optic Dysplasia ?
Treatment for SOD is symptomatic. Hormone deficiencies may be treated with hormone replacement therapy. The optical problems associated with SOD are generally not treatable. Vision, physical, and occupational therapies may be required.
outlook
What is the outlook for Septo-Optic Dysplasia ?
The prognosis for individuals with SOD varies according to the presence and severity of symptoms.
research
what research (or clinical trials) is being done for Septo-Optic Dysplasia ?
The NINDS supports and conducts neurogenetic research which focuses on identifying and studying the genes involved in normal brain development. The knowledge gained from these fundamental studies provides the foundation for understanding how this process can go awry and, thus, may eventually give clues to understanding...
information
What is (are) Coffin Lowry Syndrome ?
Coffin-Lowry syndrome is a rare genetic disorder characterized by craniofacial (head and facial) and skeletal abnormalities, delayed intellectual development, short stature, and hypotonia. Characteristic facial features may include an underdeveloped upper jaw bone (maxillary hypoplasia), a broad nose, protruding nostri...
treatment
What are the treatments for Coffin Lowry Syndrome ?
There is no cure and no standard course of treatment for Coffin-Lowry syndrome. Treatment is symptomatic and supportive, and may include physical and speech therapy and educational services.
outlook
What is the outlook for Coffin Lowry Syndrome ?
The prognosis for individuals with Coffin-Lowry syndrome varies depending on the severity of symptoms. Early intervention may improve the outlook for patients. Life span is reduced in some individuals with Coffin-Lowry syndrome.
research
what research (or clinical trials) is being done for Coffin Lowry Syndrome ?
The NINDS supports and conducts research on genetic disorders, such as Coffin-Lowry syndrome, in an effort to find ways to prevent, treat, and ultimately cure these disorders.