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What is the outlook for Myasthenia Gravis ?
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With treatment, most individuals with myasthenia can significantly improve their muscle weakness. Some case of myasthenia gravis may go into remission temporarily, and muscle weakness may disappear so that medications can be discontinued. In a few cases, the severe weakness of myasthenia gravis may cause respiratory failure, which requires immediate emergency medical care.
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Myasthenia Gravis
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what research (or clinical trials) is being done for Myasthenia Gravis ?
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Scientists are evaluating new and improving current treatments for myasthenia gravis. Different drugs are being tested, either alone or in combination with existing drug therapies, to see if they are effective in treating the disorder. One study seeks to understand the molecular basis of synaptic transmission in the nervous system. Thymectomy is being studied in individuals who do not have thymoma, to assess long-term benefit the surgery may have over medical therapy alone. And investigators are examining the safety and efficacy of autologous hematopoietic stem cell transplantation to treat refractory and severe myasthenia gravis.
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Myasthenia Gravis
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What is (are) Apraxia ?
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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 parietal lobe, and can arise from many diseases or damage to the brain. There are several kinds of apraxia, which may occur alone or together. The most common is buccofacial or orofacial apraxia, which causes the inability to carry out facial movements on command such as licking lips, whistling, coughing, or winking. Other types of apraxia include limb-kinetic apraxia (the inability to make fine, precise movements with an arm or leg), ideomotor apraxia (the inability to make the proper movement in response to a verbal command), ideational apraxia (the inability to coordinate activities with multiple, sequential movements, such as dressing, eating, and bathing), verbal apraxia (difficulty coordinating mouth and speech movements), constructional apraxia (the inability to copy, draw, or construct simple figures), and oculomotor apraxia (difficulty moving the eyes on command). Apraxia may be accompanied by a language disorder called aphasia. Corticobasal ganglionic degeneration is a disease that causes a variety of types of apraxia, especially in elderly adults.
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Apraxia
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What are the treatments for Apraxia ?
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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.
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Apraxia
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What is the outlook for Apraxia ?
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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.
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Apraxia
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what research (or clinical trials) is being done for Apraxia ?
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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.
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Apraxia
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What is (are) Guillain-Barr Syndrome ?
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Guillain-Barr syndrome is a disorder in which the body's immune system attacks part of the peripheral nervous system. The first symptoms of this disorder include varying degrees of weakness or tingling sensations in the legs. In many instances, the weakness and abnormal sensations spread to the arms and upper body. These symptoms can increase in intensity until the muscles cannot be used at all and the person is almost totally paralyzed. In these cases, the disorder is life-threatening and is considered a medical emergency. The individual is often put on a ventilator to assist with breathing. Most individuals, however, have good recovery from even the most severe cases of Guillain-Barr syndrome (GBS), although some continue to have some degree of weakness. Guillain-Barr syndrome is rare. Usually Guillain-Barr occurs a few days or weeks after the person has had symptoms of a respiratory or gastrointestinal viral infection. Occasionally, surgery will trigger the syndrome. In rare instances, vaccinations may increase the risk of GBS. The disorder can develop over the course of hours or days, or it may take up to 3 to 4 weeks. No one yet knows why Guillain-Barr strikes some people and not others or what sets the disease in motion. What scientists do know is that the body's immune system begins to attack the body itself, causing what is known as an autoimmune disease. Guillain-Barr is called a syndrome rather than a disease because it is not clear that a specific disease-causing agent is involved. Reflexes such as knee jerks are usually lost. Because the signals traveling along the nerve are slower, a nerve conduction velocity (NCV) test can give a doctor clues to aid the diagnosis. The cerebrospinal fluid that bathes the spinal cord and brain contains more protein than usual, so a physician may decide to perform a spinal tap.
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Guillain-Barr Syndrome
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What are the treatments for Guillain-Barr Syndrome ?
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There is no known cure for Guillain-Barr syndrome, but therapies can lessen the severity of the illness and accelerate the recovery in most patients. There are also a number of ways to treat the complications of the disease. Currently, plasmapheresis (also known as plasma exchange) and high-dose immunoglobulin therapy are used. Plasmapheresis seems to reduce the severity and duration of the Guillain-Barr episode. In high-dose immunoglobulin therapy, doctors give intravenous injections of the proteins that in small quantities, the immune system uses naturally to attack invading organism. Investigators have found that giving high doses of these immunoglobulins, derived from a pool of thousands of normal donors, to Guillain-Barr patients can lessen the immune attack on the nervous system. The most critical part of the treatment for this syndrome consists of keeping the patient's body functioning during recovery of the nervous system. This can sometimes require placing the patient on a ventilator, a heart monitor, or other machines that assist body function.
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Guillain-Barr Syndrome
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What is the outlook for Guillain-Barr Syndrome ?
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Guillain-Barr syndrome can be a devastating disorder because of its sudden and unexpected onset. Most people reach the stage of greatest weakness within the first 2 weeks after symptoms appear, and by the third week of the illness 90 percent of all patients are at their weakest. The recovery period may be as little as a few weeks or as long as a few years. About 30 percent of those with Guillain-Barr still have a residual weakness after 3 years. About 3 percent may suffer a relapse of muscle weakness and tingling sensations many years after the initial attack.
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Guillain-Barr Syndrome
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what research (or clinical trials) is being done for Guillain-Barr Syndrome ?
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Scientists are concentrating on finding new treatments and refining existing ones. Scientists are also looking at the workings of the immune system to find which cells are responsible for beginning and carrying out the attack on the nervous system. The fact that so many cases of Guillain-Barr begin after a viral or bacterial infection suggests that certain characteristics of some viruses and bacteria may activate the immune system inappropriately. Investigators are searching for those characteristics. Neurological scientists, immunologists, virologists, and pharmacologists are all working collaboratively to learn how to prevent this disorder and to make better therapies available when it strikes.
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Guillain-Barr Syndrome
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What is (are) Isaacs' Syndrome ?
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Issacs' syndrome (also known as neuromyotonia, Isaacs-Mertens syndrome, continuous muscle fiber activity syndrome, and quantal squander syndrome) is a rare neuromuscular disorder caused by hyperexcitability and continuous firing of the peripheral nerve axons that activate muscle fibers. Symptoms, which include progressive muscle stiffness, continuously contracting or twitching muscles (myokymia), cramping, increased sweating, and delayed muscle relaxation, occur even during sleep or when individuals are under general anesthesia. Many people also develop weakened reflexes and muscle pain, but numbness is relatively uncommon. In most people with Issacs' syndrome, stiffness is most prominent in limb and trunk muscles, although symptoms can be limited to cranial muscles. Speech and breathing may be affected if pharyngeal or laryngeal muscles are involved. Onset is between ages 15 and 60, with most individuals experiencing symptoms before age 40. There are hereditary and acquired (occurring from unknown causes) forms of the disorder. The acquired form occasionally develops in association with peripheral neuropathies or after radiation treatment, but more often is caused by an autoimmune condition. Autoimmune-mediated Issacs' syndrome is typically caused by antibodies that bind to potassium channels on the motor nerve. Issacs' syndrome is only one of several neurological conditions that can be caused by potassium channel antibodies.
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Isaacs' Syndrome
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What are the treatments for Isaacs' Syndrome ?
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Anticonvulsants, including phenytoin and carbamazepine, usually provide significant relief from the stiffness, muscle spasms, and pain associated with Isaacs' syndrome. Plasma exchange may provide short-term relief for individuals with some forms of the acquired disorder.
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Isaacs' Syndrome
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What is the outlook for Isaacs' Syndrome ?
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There is no cure for Isaacs' syndrome. The long-term prognosis for individuals with the disorder is uncertain.
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Isaacs' Syndrome
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what research (or clinical trials) is being done for Isaacs' Syndrome ?
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The NINDS supports an extensive research program of basic studies to increase understanding of diseases that affect the brain, spinal cord, muscles, and nerves. This research examines the genetics, symptoms, progression, and psychological and behavioral impact of diseases, with the goal of improving ways to diagnose, treat, and, ultimately, cure these disorders.
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Isaacs' Syndrome
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What is (are) Agnosia ?
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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 or not. Agnosia can be limited to one sensory modality such as vision or hearing. For example, a person may have difficulty in recognizing an object as a cup or identifying a sound as a cough. Agnosia can result from strokes, dementia, developmental disorders, or other neurological conditions. It typically results from damage to specific brain areas in the occipital or parietal lobes of the brain. People with agnosia may retain their cognitive abilities in other areas.
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Agnosia
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What are the treatments for Agnosia ?
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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.
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Agnosia
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What is the outlook for Agnosia ?
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Agnosia can compromise quality of life.
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Agnosia
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what research (or clinical trials) is being done for Agnosia ?
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The NINDS supports research on disorders of the brain such as agnosia with the goal of finding ways to prevent or cure them.
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Agnosia
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What is (are) Rett Syndrome ?
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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, and diminished eye contact. As the syndrome progresses, a child will lose purposeful use of her hands and the ability to speak. Compulsive hand movements such as wringing and washing follow the loss of functional use of the hands. The inability to perform motor functions is perhaps the most severely disabling feature of Rett syndrome, interfering with every body movement, including eye gaze and speech.
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Rett Syndrome
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What are the treatments for Rett Syndrome ?
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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 hydrotherapy may prolong mobility. Some children may require special equipment and aids such as braces to arrest scoliosis, splints to modify hand movements, and nutritional programs to help them maintain adequate weight. Special academic, social, vocational, and support services may be required in some cases.
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Rett Syndrome
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What is the outlook for Rett Syndrome ?
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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 life expectancy.
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Rett Syndrome
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what research (or clinical trials) is being done for Rett Syndrome ?
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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. The discovery of the Rett syndrome gene in 1999 provides a basis for further genetic studies. Understanding the cause of this disorder is necessary for developing new therapies to manage specific symptoms, as well as for providing better methods of diagnosis.
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Rett Syndrome
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What is (are) Multifocal Motor Neuropathy ?
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Multifocal motor neuropathy is a progressive muscle disorder characterized by muscle weakness in the hands, with differences from one side of the body to the other in the specific muscles involved. It affects men much more than women. Symptoms also include muscle wasting, cramping, and involuntary contractions or twitching of the leg muscles. The disorder is sometimes mistaken for amyotrophic laterial sclerosis (ALS, or Lou Gehrig's disease) but unlike ALS, it is treatable. An early and accurate diagnosis allows patients to recover quickly.
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Multifocal Motor Neuropathy
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What are the treatments for Multifocal Motor Neuropathy ?
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Treatment for multifocal motor neuropathy varies. Some individuals experience only mild, modest symptoms and require no treatment. For others, treatment generally consists of intravenous immunoglobulin (IVIg) or immunosuppressive therapy with cyclophosphamide.
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Multifocal Motor Neuropathy
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What is the outlook for Multifocal Motor Neuropathy ?
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Improvement in muscle strength usually begins within 3 to 6 weeks after treatment is started. Most patients who receive treatment early experience little, if any, disability. However, there is evidence of slow progression over many years.
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Multifocal Motor Neuropathy
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what research (or clinical trials) is being done for Multifocal Motor Neuropathy ?
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The NINDS supports a broad range of research on neuromuscular disorders with the goal of finding ways to prevent, treat, and, ultimately, cure them.
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Multifocal Motor Neuropathy
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What is (are) Neurosyphilis ?
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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 signs and symptoms. There are five types of neurosyphilis:
- asymptomatic neurosyphilis - meningeal neurosyphilis - meningovascular neurosyphilis - general paresis, and - tabes dorsalis.
Asymptomatic neurosyphilis means that neurosyphilis is present, but the individual reports no symptoms and does not feel sick. Meningeal syphilis can occur between the first few weeks to the first few years of getting syphilis. Individuals with meningeal syphilis can have headache, stiff neck, nausea, and vomiting. Sometimes there can also be loss of vision or hearing. Meningovascular syphilis causes the same symptoms as meningeal syphilis but affected individuals also have strokes. This form of neurosyphilis can occur within the first few months to several years after infection. General paresis can occur between 3 30 years after getting syphilis. People with general paresis can have personality or mood changes. Tabes dorsalis is characterized by pains in the limbs or abdomen, failure of muscle coordination, and bladder disturbances. Other signs include vision loss, loss of reflexes and loss of sense of vibration, poor gait, and impaired balance. Tabes dorsalis can occur anywhere from 5 50 years after initial syphilis infection. General paresis and tabes dorsalis are now less common than the other forms of neurosyphilis because of advances made in prevention, screening, and treatment. People with HIV/AIDS are at higher risk of having neurosyphilis.
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Neurosyphilis
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What are the treatments for Neurosyphilis ?
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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 professionals recommend another antibiotic called ceftriaxone for neurosyphilis treatment. This drug is usually given daily by vein, but it can also be given by intramuscular injection. Individuals who receive ceftriaxone are also treated for 10 - 14 days. People with HIV/AIDS who get treated for neurosyphilis may have different outcomes than individuals without HIV/AIDS.
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Neurosyphilis
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What is the outlook for Neurosyphilis ?
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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 dorsalis usually do not return to normal health, although they may get much better. Individuals who receive treatment many years after they have been infected have a worse prognosis. Treatment outcome is different for every person.
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Neurosyphilis
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what research (or clinical trials) is being done for Neurosyphilis ?
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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.
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Neurosyphilis
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What is (are) Sleep Apnea ?
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Sleep apnea is a common sleep disorder characterized by brief interruptions of breathing during sleep. These episodes usually last 10 seconds or more and occur repeatedly throughout the night. People with sleep apnea will partially awaken as they struggle to breathe, but in the morning they will not be aware of the disturbances in their sleep. The most common type of sleep apnea is obstructive sleep apnea (OSA), caused by relaxation of soft tissue in the back of the throat that blocks the passage of air. Central sleep apnea (CSA) is caused by irregularities in the brains normal signals to breathe. Most people with sleep apnea will have a combination of both types. The hallmark symptom of the disorder is excessive daytime sleepiness. Additional symptoms of sleep apnea include restless sleep, loud snoring (with periods of silence followed by gasps), falling asleep during the day, morning headaches, trouble concentrating, irritability, forgetfulness, mood or behavior changes, anxiety, and depression. Not everyone who has these symptoms will have sleep apnea, but it is recommended that people who are experiencing even a few of these symptoms visit their doctor for evaluation. Sleep apnea is more likely to occur in men than women, and in people who are overweight or obese.
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Sleep Apnea
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What are the treatments for Sleep Apnea ?
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There are a variety of treatments for sleep apnea, depending on an individuals medical history and the severity of the disorder. Most treatment regimens begin with lifestyle changes, such as avoiding alcohol and medications that relax the central nervous system (for example, sedatives and muscle relaxants), losing weight, and quitting smoking. Some people are helped by special pillows or devices that keep them from sleeping on their backs, or oral appliances to keep the airway open during sleep. If these conservative methods are inadequate, doctors often recommend continuous positive airway pressure (CPAP), in which a face mask is attached to a tube and a machine that blows pressurized air into the mask and through the airway to keep it open. Also available are machines that offer variable positive airway pressure (VPAP) and automatic positive airway pressure (APAP). There are also surgical procedures that can be used to remove tissue and widen the airway. Some individuals may need a combination of therapies to successfully treat their sleep apnea.
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Sleep Apnea
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What is the outlook for Sleep Apnea ?
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Untreated, sleep apnea can be life threatening. Excessive daytime sleepiness can cause people to fall asleep at inappropriate times, such as while driving. Sleep apnea also appears to put individuals at risk for stroke and transient ischemic attacks (TIAs, also known as mini-strokes), and is associated with coronary heart disease, heart failure, irregular heartbeat, heart attack, and high blood pressure. Although there is no cure for sleep apnea, recent studies show that successful treatment can reduce the risk of heart and blood pressure problems.
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Sleep Apnea
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what research (or clinical trials) is being done for Sleep Apnea ?
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The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research related to sleep apnea in laboratories at the NIH, and also support additional research through grants to major medical institutions across the country. Much of this research focuses on finding better ways to prevent, treat, and ultimately cure sleep disorders, such as sleep apnea.
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Sleep Apnea
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What is (are) Fahr's Syndrome ?
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Fahr's Syndrome is a rare, genetically dominant, inherited neurological disorder characterized by abnormal deposits of calcium in areas of the brain that control movement, including the basal ganglia and the cerebral cortex. Symptoms of the disorder may include deterioration of motor function, dementia, seizures, headache, dysarthria (poorly articulated speech), spasticity (stiffness of the limbs) and spastic paralysis, eye impairments, and athetosis (involuntary, writhing movements). Fahr's Syndrome can also include symptoms characteristic of Parkinson's disease such as tremors, muscle rigidity, a mask-like facial appearance, shuffling gait, and a "pill-rolling" motion of the fingers. These symptoms generally occur later in the development of the disease. More common symptoms include dystonia (disordered muscle tone) and chorea (involuntary, rapid, jerky movements). Age of onset is typically in the 40s or 50s, although it can occur at any time in childhood or adolescence.
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Fahr's Syndrome
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What are the treatments for Fahr's Syndrome ?
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There is no cure for Fahr's Syndrome, nor is there a standard course of treatment. Treatment addresses symptoms on an individual basis.
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Fahr's Syndrome
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What is the outlook for Fahr's Syndrome ?
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The prognosis for any individual with Fahr's Syndrome is variable and hard to predict. There is no reliable correlation between age, extent of calcium deposits in the brain, and neurological deficit. Since the appearance of calcification is age-dependent, a CT scan could be negative in a gene carrier who is younger than the age of 55.
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Fahr's Syndrome
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what research (or clinical trials) is being done for Fahr's Syndrome ?
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The NINDS supports and conducts research on neurogenetic disorders such as Fahr's Syndrome. The goals of this research are to locate and understand the actions of the genes involved in this disorder. Finding these genes could lead to effective ways to treat and prevent Fahr's Syndrome.
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Fahr's Syndrome
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What is (are) Polymyositis ?
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Polymyositis is one of a group of muscle diseases known as the inflammatory myopathies, which are characterized by chronic muscle inflammation accompanied by muscle weakness. Polymyositis affects skeletal muscles (those involved with making movement) on both sides of the body. It is rarely seen in persons under age 18; most cases are in adults between the ages of 31 and 60. Progressive muscle weakness starts in the proximal muscles (muscles closest to the trunk of the body) which eventually leads to difficulties climbing stairs, rising from a seated position, lifting objects, or reaching overhead. People with polymyositis may also experience arthritis, shortness of breath, difficulty swallowing and speaking, and heart arrhythmias. In some cases of polymyositis, distal muscles (muscles further away from the trunk of the body, such as those in the forearms and around the ankles and wrists) may be affected as the disease progresses. Polymyositis may be associated with collagen-vascular or autoimmune diseases, such as lupus. Polymyositis may also be associated with infectious disorders, such as HIV-AIDS.
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Polymyositis
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What are the treatments for Polymyositis ?
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There is no cure for polymyositis, 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 polymyositis is a corticosteroid drug, given either in pill form or intravenously. Immunosuppressant drugs, such as azathioprine and methotrexate, may reduce inflammation in people who do not respond well to prednisone. Periodic treatment using intravenous immunoglobulin can also improve recovery. Other immunosuppressive agents used to treat the inflammation associated with polymyositis include cyclosporine A, cyclophosphamide, and tacrolimus. Physical therapy is usually recommended to prevent muscle atrophy and to regain muscle strength and range of motion.
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Polymyositis
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What is the outlook for Polymyositis ?
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The prognosis for polymyositis varies. Most people respond fairly well to therapy, but some have a more severe disease that does not respond adequately to therapies and are left with significant disability. In rare cases individuals with severe and progressive muscle weakness will develop respiratory failure or pneumonia. Difficulty swallowing may cause weight loss and malnutrition.
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Polymyositis
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what research (or clinical trials) is being done for Polymyositis ?
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The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research relating to polymyositis in laboratories at the NIH and support additional research through grants to major medical institutions across the country. Currently funded research is exploring patterns of gene expression among the inflammatory myopathies, the role of viral infection as a precursor to the disorders, and the safety and efficacy of various treatment regimens.
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Polymyositis
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What is (are) Sydenham Chorea ?
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Sydenham chorea (SD) is a neurological disorder of childhood resulting from infection via Group A beta-hemolytic streptococcus (GABHS), the bacterium that causes rheumatic fever. SD is characterized by rapid, irregular, and aimless involuntary movements of the arms and legs, trunk, and facial muscles. It affects girls more often than boys and typically occurs between 5 and 15 years of age. Some children will have a sore throat several weeks before the symptoms begin, but the disorder can also strike up to 6 months after the fever or infection has cleared. Symptoms can appear gradually or all at once, and also may include uncoordinated movements, muscular weakness, stumbling and falling, slurred speech, difficulty concentrating and writing, and emotional instability. The symptoms of SD can vary from a halting gait and slight grimacing to involuntary movements that are frequent and severe enough to be incapacitating. The random, writhing movements of chorea are caused by an auto-immune reaction to the bacterium that interferes with the normal function of a part of the brain (the basal ganglia) that controls motor movements. Due to better sanitary conditions and the use of antibiotics to treat streptococcal infections, rheumatic fever, and consequently SD, are rare in North America and Europe. The disease can still be found in developing nations.
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Sydenham Chorea
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What are the treatments for Sydenham Chorea ?
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There is no specific treatment for SD. For people with the mildest form, bed rest during the period of active movements is sufficient. When the severity of movements interferes with rest, sedative drugs, such as barbiturates or benzodiazepines, may be needed. Antiepileptic medications, such as valproic acid, are often prescribed. Doctors also recommend that children who have had SD take penicillin over the course of the next 10 years to prevent additional manifestations of rheumatic fever.
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Sydenham Chorea
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What is the outlook for Sydenham Chorea ?
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Most children recover completely from SD, although a small number will continue to have disabling, persistent chorea despite treatment. The duration of symptoms varies, generally from 3 to 6 weeks, but some children will have symptoms for several months. Cardiac complications may occur in a small minority of children, usually in the form of endocarditis. In a third of the children with the disease, SD will recur, typically 1 to 2 years after the initial attack. Researchers have noted an association between recurrent SD and the later development of the abrupt onset forms of obsessive-compulsive disorder, attention deficit/hyperactivity disorder, tic disorders, and autism, which they call PANDAS, for Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcus infection. Further studies are needed to determine the nature of the association and the biological pathways that connect streptococcal infection, autoimmune response, and the later development of these specific behavioral disorders.
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Sydenham Chorea
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what research (or clinical trials) is being done for Sydenham Chorea ?
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The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research related to SD in laboratories at the NIH, and support additional research through grants to major medical institutions across the country. Currently, researchers are studying how the interplay of genetic, developmental, and environmental factors could determine a childs vulnerability to SD after a GABHS infection. Other researchers are exploring whether children whose symptoms either begin or get worse following a GABHS infection share a common set of abnormal biomolecular pathways responsible for their similar clinical symptoms.
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Sydenham Chorea
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What is (are) Cephalic Disorders ?
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Cephalic disorders are congenital conditions that stem from damage to or abnormal development of the budding nervous system. Most cephalic disorders are caused by a disturbance that occurs very early in the development of the fetal nervous system. Damage to the developing nervous system is a major cause of chronic, disabling disorders, and sometimes death in infants, children, and even adults. Cephalic disorders may be influenced by hereditary or genetic conditions or by environmental exposures during pregnancy (e.g., medication taken by the mother, maternal infection, exposure to radiation). Some cephalic disorders occur when the cranial sutures (the fibrous joints that connect the bones of the skull) join prematurely. Understanding the normal development of the human nervous system may lead to a better understanding of cephalic disorders.
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Cephalic Disorders
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What are the treatments for Cephalic Disorders ?
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Treatments for cephalic disorders depend upon the particular type of disorder. For most cephalic disorders, treatment is only symptomatic and supportive. In some cases, anticonvulsant medications shunts, or physical therapy are appropriate.
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Cephalic Disorders
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What is the outlook for Cephalic Disorders ?
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The degree to which damage to the developing nervous system harms the mind and body varies enormously. Many disabilities are mild enough to allow those afflicted to eventually function independently in society. Others are not. Some infants, children, and adults die; others remain totally disabled; and an even larger population is partially disabled, functioning well below normal capacity.
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Cephalic Disorders
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what research (or clinical trials) is being done for Cephalic Disorders ?
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Scientists are rapidly learning how harmful insults, a critical nutritional deficiency, or exposure to an environmental insult at various stages of pregnancy can lead to developmental disorders. Research projects currently underway include a study to evaluate increased risk of neural tube defects and various other congenital malformations in association with environmental and occupational exposure to pesticides. Scientists are also concentrating their efforts on understanding the complex processes responsible for normal early development of the brain and nervous system and how the disruption of any of these processes results in congenital anomalies such as cephalic disorders. Currently, researchers are examining the mechanisms involved in neurulation -- the process of forming the neural tube. Investigators are also conducting a variety of genetic studies. Understanding how genes control brain cell migration, proliferation, differentiation, and death, and how radiation, drugs, toxins, infections, and other factors disrupt these processes will aid in preventing many congenital neurological disorders. Recent studies have shown that the addition of folic acid to the diet of women of child-bearing age may significantly reduce the incidence of neural tube defects. Therefore, it is recommended that all women of child-bearing age consume 0.4 mg of folic acid daily.
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Cephalic Disorders
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What is (are) Antiphospholipid Syndrome ?
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Antiphospholipid syndrome (APS) is an autoimmune disorder caused when antibodies -- immune system cells that fight off bacteria and viruses -- mistakenly attack healthy body tissues and organs. In APS, specific antibodies activate the inner lining of blood vessels, which leads to the formation of blood clots in arteries or veins. APS is sometimes called sticky blood syndrome, because of the increased tendency to form blood clots in the veins and arteries. The symptoms of APS are due to the abnormal blood clotting. Clots can develop in the veins of the legs and lungs, or in the placenta of pregnant women. One of the most serious complications of APS occurs when a clot forms in the brain and causes a stroke. Other neurological symptoms include chronic headaches, dementia (similar to the dementia of Alzheimers disease), and seizures. Infrequently, individuals will develop chorea (a movement disorder in which the body and limbs writhe uncontrollably), cognitive dysfunction (such as poor memory), transverse myelitis, depression or psychosis, optic neuropathy, or sudden hearing loss. In pregnant women, clots in the placenta can cause miscarriages. APS is diagnosed by the presence of a positive antiphospholipid antibody and either a history of blood clots in an artery or vein or a history of multiple miscarriages or other pregnancy problems. Some individuals will have a characteristic lacy, net-like red rash called livedo reticularis over their wrists and knees.
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Antiphospholipid Syndrome
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What are the treatments for Antiphospholipid Syndrome ?
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The main goal of treatment is to thin the blood to reduce clotting. At present, the recommended treatment is low-dose aspirin. For individuals who have already had a stroke or experience recurrent clots, doctors recommend treatment with the anticoagulant warfarin. Pregnant women are treated with either aspirin or another anticoagulant -- heparin -- since warfarin can cause birth defects.
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Antiphospholipid Syndrome
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What is the outlook for Antiphospholipid Syndrome ?
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APS improves significantly with anticoagulation therapy, which reduces the risk of further clots in veins and arteries. Treatment should be lifelong, since there is a high risk of further clots in individuals who stop warfarin treatment. Doctors often recommend that individuals stop smoking, exercise regularly, and eat a healthy diet to prevent high blood pressure and diabetes, which are diseases that increase the risk for stroke. Treating pregnant women with aspirin or heparin usually prevents miscarriages related to APS.
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Antiphospholipid Syndrome
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what research (or clinical trials) is being done for Antiphospholipid Syndrome ?
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The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) support research on APS through grants to major medical institutions across the country.NINDS-funded research is looking at ways to reduce clotting and prevent stroke. Among other NIH-funded research efforts, scientists are examining the role of antiphospholipid antibodies in clotting and pregnancy loss, which is commonly seen in individuals with lupus. Another project hopes to identify potential inherited risk factors for the development of APS.
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Antiphospholipid Syndrome
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What are the complications of Machado-Joseph Disease ?
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Lyme disease is caused by a bacterial organism that is transmitted to humans via the bite of an infected tick. Most people with Lyme disease develop a characteristic skin rash around the area of the bite. The rash may feel hot to the touch, and vary in size, shape, and color, but it will often have a "bull's eye" appearance (a red ring with a clear center). However, there are those who will not develop the rash, which can make Lyme disease hard to diagnose because its symptoms and signs mimic those of many other diseases.
Anywhere from 7 to 14 days (or in some cases, 30 days) following an infected tick's bite, the first stage of Lyme disease may begin with flu-like symptoms such as fever, chills, swollen lymph nodes, headaches, fatigue, muscle aches, and joint pain.
Neurological complications most often occur in the second stage of Lyme disease, with numbness, pain, weakness, Bell's palsy (paralysis of the facial muscles), visual disturbances, and meningitis symptoms such as fever, stiff neck, and severe headache. Other problems, which may not appear until weeks, months, or years after a tick bite, include decreased concentration, irritability, memory and sleep disorders, and nerve damage in the arms and legs.
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Machado-Joseph Disease
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What are the treatments for Machado-Joseph Disease ?
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Lyme disease is treated with antibiotics under the supervision of a physician.
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Machado-Joseph Disease
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What is the outlook for Machado-Joseph Disease ?
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Most individuals with Lyme disease respond well to antibiotics and have full recovery. In a small percentage of individuals, symptoms may continue or recur, requiring additional antibiotic treatment. Varying degrees of permanent joint or nervous system damage may develop in individuals with late-stage Lyme disease.
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Machado-Joseph Disease
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what research (or clinical trials) is being done for Machado-Joseph Disease ?
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The NINDS supports research on Lyme disease. Current areas of interest include improving diagnostic tests and developing more effective treatments. The National Institute of Allergy and Infectious Diseases (NIAID), the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), and the National Center for Research Resources (NCRR), all parts of the National Institutes of Health (NIH), also support research on Lyme disease.
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Machado-Joseph Disease
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What is (are) Niemann-Pick Disease ?
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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 quantities of lipids accumulate in the brain, spleen, liver, lungs, and bone marrow. Neurological symptoms may include ataxia (lack of muscle control during voluntary movements such as walking), loss of muscle tone, brain degeneration, increased sensitivity to touch, spasticity (stiff muscles and awkward movement), and slurred speech. Other symptoms may include feeding and swallowing difficulties, eye paralysis, learning problems, and an enlarged liver and spleen. There may be clouding of the cornea and a characteristic cherry-red halo develops around the center of the retina. The disease has three categories. Type A, the most severe form, occurs in early infancy and is seen primarily in Jewish families. It is characterized by progressive weakness, an enlarged liver and spleen, swollen lymph nodes, and profound brain damage by six months of age. Children with this type rarely live beyond 18 months. Type B usually occurs in the pre-teen years, with symptoms that include ataxia and peripheral neuropathy. The brain is generally not affected. Other symptoms include enlarged liver and spleen, and pulmonary difficulties. In types A and B, insufficient activity of an enzyme called sphingomyelinase causes the build up of toxic amounts of sphingomyelin, a fatty substance present in every cell of the body. Type C may appear early in life or develop in the teen or adult years. It is caused by a lack of the NPC1 or NPC2 proteins. Affected individuals may have extensive brain damage that can cause an inability to look up and down, difficulty in walking and swallowing, and progressive loss of vision and hearing. There may be moderate enlargement of the spleen and liver. Individuals wit Type C who share a common ancestral background in Nova Scotia were previously referred to as Type D.
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Niemann-Pick Disease
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What are the treatments for Niemann-Pick Disease ?
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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 enzyme replacement and gene therapies might also be helpful for those with type B. restricting one's diet does not prevent the buildup of lipids in cells and tissues.
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Niemann-Pick Disease
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What is the outlook for Niemann-Pick Disease ?
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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.
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Niemann-Pick Disease
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what research (or clinical trials) is being done for Niemann-Pick Disease ?
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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 defective, contribute to Niemann-Pick disease type C. NINDS scientists are studying the mechanisms by which lipids accumulating in these storage diseases causes harm to the body. Additional research studies hope to identify biomarkers (signs that may indicate risk of a disease and improve diagnosis) for the lipid storage disorders.
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Niemann-Pick Disease
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What is (are) Hemicrania Continua ?
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Hemicrania continua is a chronic and persistent form of headache marked by continuous pain that varies in severity, always occurs on the same side of the face and head, and is superimposed with additional debilitating symptoms. on the continuous but fluctuating pain are occasional attacks of more severe pain. A small percentage of individuals with hemicrania continua have bilateral pain, or pain on both sides of the head. A headache is considered hemicrania continua if the person has had a one-sided daily or continuous headache of moderate intensity with occasional short, piercing head pain for more than 3 months without shifting sides or pain-free periods. The headache must also be completely responsive to treatment with the non-steroidal anti-inflammatory drug drug indomethacin. It must have at least one of the following symptoms: eye redness and/or tearing, nasal congestion and/or runny nose, ptosis (drooping eyelid) and miosis (contracture of the iris). Occasionally, individuals will also have forehead sweating and migraine symptoms, such as throbbing pain, nausea and/or vomiting, or sensitivity to light and sound. The disorder has two forms: chronic, with daily headaches, and remitting, in which headaches may occur for a period as long as 6 months and are followed by a pain-free period of weeks to months until the pain returns. Most patients experience attacks of increased pain three to five times per 24-hour cycle. This disorder is more common in women than in men. Physical exertion and alcohol use may increase the severity of headache pain in some patients. The cause of this disorder is unknown.
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Hemicrania Continua
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What are the treatments for Hemicrania Continua ?
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Indomethacin provides rapid relief from symptoms. Patients must take between 25 and 300 milligrams of indomethacin daily and indefinitely to decrease symptoms. Some individuals may need to take acid-suppression medicine due to a gastrointestinal side effect. For those who cannot tolerate the side effects, another NSAID, celecoxib, has been shown to have less complications and can be prescribed. Amitriptyline and other tricyclic antidepressants are also effective in some individuals with hemicrania continua as a preventative treatment.
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Hemicrania Continua
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What is the outlook for Hemicrania Continua ?
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Individuals may obtain complete to near-complete relief of symptoms with proper medical attention and daily medication. Some people may not be able to tolerate long-term use of indomethacin and may have to rely on less effective NSAIDs.
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Hemicrania Continua
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what research (or clinical trials) is being done for Hemicrania Continua ?
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The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) support research related to hemicrania continua through grants to medical research institutions across the country. Much of this research focuses on understanding hemicrania continua in order to finding better ways to prevent, treat, and ultimately cure the disorder.
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Hemicrania Continua
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What is (are) Brain and Spinal Tumors ?
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Tumors of the brain and spinal cord are abnormal growths of tissue found inside the skull or the bony spinal column. The brain and spinal cord are the primary components of the central nervous system (CNS). Benign tumors are noncancerous, and malignant tumors are cancerous. The CNS is housed within rigid, bony quarters (i.e., the skull and spinal column), so any abnormal growth, whether benign or malignant, can place pressure on sensitive tissues and impair function. Tumors that originate in the brain or spinal cord are called primary tumors. Most primary tumors are caused by out-of-control growth among cells that surround and support neuron, specific genetic disease (such as neurofibromatosis type 1 and tuberous sclerosis), or from exposure to radiation or cancer-causing chemicals. Metastatic, or secondary, tumors in the CNS are caused by cancer cells that break away from a primary tumor located in another region of the body. Tumors can place pressure on sensitive tissues and impair function..Symptoms of brain tumors include headaches, seizures, nausea and vomiting, poor vision or hearing, changes in behavior, unclear thinking, and unsteadiness. Spinal cord tumor symptoms include pain, numbness, and paralysis. Diagnosis is made after a neurological examination, special imaging techniques (computed tomography, and magnetic resonance imaging, positron emission tomography), laboratory tests, and a biopsy (in which a sample of tissue is taken from a suspected tumor and examined).
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Brain and Spinal Tumors
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What are the treatments for Brain and Spinal Tumors ?
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The three most commonly used treatments are surgery, radiation, and chemotherapy. Doctors also may prescribe steroids to reduce the tumor-related swelling inside the CNS.
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Brain and Spinal Tumors
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What is the outlook for Brain and Spinal Tumors ?
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Symptoms of brain and spinal cord tumors generally develop slowly and worsen over time unless they are treated. The tumor may be classified as benign or malignant and given a numbered score that reflects its rate of malignancy. This score can help doctors determine how to treat the tumor and predict the likely outcome, or prognosis, for the individual.
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Brain and Spinal Tumors
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what research (or clinical trials) is being done for Brain and Spinal Tumors ?
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Scientists continue to investigate ways to better understand, diagnose, and treat CNS tumors. Experimental treatment options may include new drugs, gene therapy, surgery , radiation, biologic modulators that enhance the body's overall immune system to recognize and fight cancer cells, and a combination of therapies. Of particular interest to scientists is the development of tailored therapeutics--involving a combination of targeted agents that use different molecules to reduce tumor gene activity and suppress uncontrolled growth by killing or reducing the production of tumor cells--to treat tumors based on their genetic makeup. Researchers continue to search for additional clinical biomarkers (molecules or other substances in the blood or tissue that can be used to diagnose or monitor a particular disorder) of CNS tumors. Other researchers are testing different drugs and molecules to see if they can modulate the normal activity of the blood-brain barrier and better target tumor cells and associated blood vessels. Also under investigation are ways to improve drug delivery to the tumor and to prevent the side-effects of cancer treatments.
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Brain and Spinal Tumors
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What is (are) Von Hippel-Lindau Disease (VHL) ?
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von Hippel-Lindau disease (VHL) is a rare, genetic multi-system disorder in which non-cancerous tumors grow in certain parts of the body. Slow-growing hemgioblastomas -- benign tumors with many blood vessels -- may develop in the brain, spinal cord, the retinas of the eyes, and near the inner ear. Cysts (fluid-filled sacs) may develop around the hemangioblastomas. Other types of tumors develop in the adrenal glands, the kidneys, or the pancreas. Symptoms of VHL vary among individuals and depend on the size and location of the tumors. Symptoms may include headaches, problems with balance and walking, dizziness, weakness of the limbs, vision problems, deafness in one ear, and high blood pressure. Individuals with VHL are also at a higher risk than normal for certain types of cancer, especially kidney cancer.
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Von Hippel-Lindau Disease (VHL)
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What are the treatments for Von Hippel-Lindau Disease (VHL) ?
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Treatment for VHL varies according to the location and size of the tumor. In general, the objective of treatment is to treat the tumors before they grow to a size large enough to cause permanent problems by putting pressure on the brain or spinal cord. this pressure can block the flow of cerebrospinal fluid in the nervous system, impair vision, or create deafness. Treatment of most cases of VHL usually involves surgery to remove the tumors before they become harmful. Certain tumors can be treated with focused high-dose irradiation. Individuals with VHL need careful monitoring by a physician and/or medical team familiar with the disorder.
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Von Hippel-Lindau Disease (VHL)
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What is the outlook for Von Hippel-Lindau Disease (VHL) ?
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The prognosis for individuals with VHL depends on then number, location, and complications of the tumors. Untreated, VHL may result in blindness and/or permanent brain damage. With early detection and treatment the prognosis is significantly improved. Death is usually caused by complications of brain tumors or kidney cancer.
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Von Hippel-Lindau Disease (VHL)
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what research (or clinical trials) is being done for Von Hippel-Lindau Disease (VHL) ?
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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 pursues a vigorous program of research aimed at preventing and treating disorders that cause tumors in the brain and spinal cord such as VHL. A natural history study hopes to learn more about the growth of brain and spinal cord tumors, as well as cysts that develop in association with them in individuals with VHL. Researchers will examine how fast the tumors grow and try to determine which factors (such as puberty, pregnancy, menopause, or blood proteins) affect tumor growth. Based on laboratory findings, NINDS researchers are planning drug trials for individuals with VHL. For example, NNDS scientists hope to learn if a drug that fights other cancers might slow the growth of hemangioblastomas in some people with VHL. The NIH's National Cancer Institute conducts research aimed at treating kidney tumors in individuals with VHL, as well as studies to identify gene mutations in people who are at risk of developing the disease..
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Von Hippel-Lindau Disease (VHL)
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What is (are) Behcet's Disease ?
|
Behcet's disease is a rare, chronic inflammatory disorder. The cause of Behcet's disease is unknown, but current research suggests that both genetic and environmental factors play a role. Behcet's disease generally begins when individuals are in their 20s or 30s, although it can happen at any age. It tends to occur more often in men than in women. Symptoms of Behcet's disease include recurrent ulcers in the mouth (resembling canker sores) and on the genitals, and eye inflammation. The disorder may also cause various types of skin lesions, arthritis, bowel inflammation, meningitis (inflammation of the membranes of the brain and spinal cord), and cranial nerve palsies. Behcet's is a multi-system disease; it may involve all organs and affect the central nervous system, causing memory loss and impaired speech, balance, and movement.
The effects of the disease may include blindness, stroke, swelling of the spinal cord, and intestinal complications. The disease is common in the Middle East, particularly in Turkey, and in Far Eastern nations such as Japan and Korean, but is less common in the United States.
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Behcet's Disease
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What are the treatments for Behcet's Disease ?
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Treatment for Behcet's disease is symptomatic and supportive. Medication may be prescribed to reduce inflammation and/or regulate the immune system. Immunosuppressive therapy may be considered.
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Behcet's Disease
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What is the outlook for Behcet's Disease ?
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Behcet's disease is a lifelong disorder that comes and goes. Permanent remission of symptoms has not been reported.
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Behcet's Disease
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what research (or clinical trials) is being done for Behcet's Disease ?
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The NINDS supports research on painful neurological disorders such as Behcet's disease. The National Human Genome Research Institute, another Institute of the National Institutes of Health, conducts research into the genomic basis of Behcet's disease. This research is aimed at discovering the causes of these disorders and finding ways to treat, prevent, and, ultimately, cure them.
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Behcet's Disease
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What is (are) Progressive Supranuclear Palsy ?
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Progressive supranuclear palsy (PSP) is a rare brain disorder that causes serious and progressive problems with control of gait and balance, along with complex eye movement and thinking problems. One of the classic signs of the disease is an inability to aim the eyes properly, which occurs because of lesions in the area of the brain that coordinates eye movements. Some individuals describe this effect as a blurring. Affected individualsoften show alterations of mood and behavior, including depression and apathy as well as progressive mild dementia.
The disorder's long name indicates that the disease begins slowly and continues to get worse (progressive), and causes weakness (palsy) by damaging certain parts of the brain above pea-sized structures called nuclei that control eye movements (supranuclear).
PSP was first described as a distinct disorder in 1964, when three scientists published a paper that distinguished the condition from Parkinson's disease. It is sometimes referred to as Steele-Richardson-Olszewski syndrome, reflecting the combined names of the scientists who defined the disorder. Although PSP gets progressively worse, no one dies from PSP itself.
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Progressive Supranuclear Palsy
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What are the treatments for Progressive Supranuclear Palsy ?
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There is currently no effective treatment for PSP, although scientists are searching for better ways to manage the disease. In some patients the slowness, stiffness, and balance problems of PSP may respond to antiparkinsonian agents such as levodopa, or levodopa combined with anticholinergic agents, but the effect is usually temporary. The speech, vision, and swallowing difficulties usually do not respond to any drug treatment.. Another group of drugs that has been of some modest success in PSP are antidepressant medications. The most commonly used of these drugs are Prozac, Elavil, and Tofranil. The anti-PSP benefit of these drugs seems not to be related to their ability to relieve depression. Non-drug treatment for PSP can take many forms. Patients frequently use weighted walking aids because of their tendency to fall backward. Bifocals or special glasses called prisms are sometimes prescribed for PSP patients to remedy the difficulty of looking down. Formal physical therapy is of no proven benefit in PSP, but certain exercises can be done to keep the joints limber. A surgical procedure, a gastrostomy, may be necessary when there are swallowing disturbances. This surgery involves the placement of a tube through the skin of the abdomen into the stomach (intestine) for feeding purposes.
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Progressive Supranuclear Palsy
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What is the outlook for Progressive Supranuclear Palsy ?
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PSP gets progressively worse but is not itself directly life-threatening. It does, however, predispose patients to serious complications such as pneumonia secondary to difficulty in swallowing (dysphagia). The most common complications are choking and pneumonia, head injury, and fractures caused by falls. The most common cause of death is pneumonia. With good attention to medical and nutritional needs, however, most PSP patients live well into their 70s and beyond.
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Progressive Supranuclear Palsy
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what research (or clinical trials) is being done for Progressive Supranuclear Palsy ?
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Research is ongoing on Parkinson's and Alzheimer's diseases. Better understanding of those common, related disorders will go a long way toward solving the problem of PSP, just as studying PSP may help shed light on Parkinson's and Alzheimer's diseases.
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Progressive Supranuclear Palsy
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What is (are) Myotonia Congenita ?
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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, particularly in the legs, often provoked by sudden activity after rest. The disease doesnt cause muscle wasting; in fact, it may cause muscle enlargement. Muscle strength is increased. There are two forms of the disorder: Becker-type, which is the most common form; and Thomsens disease, which is a rare and milder form. The disorder is cause by mutations in a gene responsible for shutting off electrical excitation in the muscles.
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Myotonia Congenita
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What are the treatments for Myotonia Congenita ?
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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. Physical therapy and other rehabilitative therapies are also sometimes used to improve muscle function.
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Myotonia Congenita
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What is the outlook for Myotonia Congenita ?
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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.
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Myotonia Congenita
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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 causes the specific symptoms of the disorder. Additional research is focused on developing animal models of the disorder to test potential treatments and therapies.
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Myotonia Congenita
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What is (are) Tardive Dyskinesia ?
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Tardive dyskinesia is a neurological syndrome caused by the long-term use of neuroleptic drugs. Neuroleptic drugs are generally prescribed for psychiatric disorders, as well as for some gastrointestinal and neurological disorders. Tardive dyskinesia is characterized by repetitive, involuntary, purposeless movements. Features of the disorder may include grimacing, tongue protrusion, lip smacking, puckering and pursing, and rapid eye blinking. Rapid movements of the arms, legs, and trunk may also occur. Involuntary movements of the fingers may be present.
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Tardive Dyskinesia
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What are the treatments for Tardive Dyskinesia ?
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Treatment is highly individualized. The first step is generally to stop or minimize the use of the neuroleptic drug, but this can be done only under close supervision of the physician.. However, for patients with a severe underlying condition this may not be a feasible option. Replacing the neuroleptic drug with substitute drugs may help some individuals. The only approved drug treatment for tardive dyskenesia is tetrabenazine, which is usually effective but can have side effects that need to be discussed prior to starting therapy. Other drugs such as benzodiazepines, clozapine, or botulinum toxin injections also may be tried.
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Tardive Dyskinesia
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What is the outlook for Tardive Dyskinesia ?
|
Symptoms of tardive dyskinesia may remain long after discontinuation of neuroleptic drugs. In many cases, the symptoms stop spontaneously, but in some cases they may persist indefinitely.
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Tardive Dyskinesia
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what research (or clinical trials) is being done for Tardive Dyskinesia ?
|
The NINDS conducts and supports a broad range of research on movement disorders including tardive dyskinesia. The goals of this research are to improve understanding of these disorders and to discover ways to treat, prevent, and, ultimately, cure them.
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Tardive Dyskinesia
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What is (are) Cerebral Atrophy ?
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Cerebral atrophy is a common feature of many of the diseases that affect the brain. Atrophy of any tissue means loss of cells. In brain tissue, atrophy describes a loss of neurons and the connections between them. Atrophy can be generalized, which means that all of the brain has shrunk; or it can be focal, affecting only a limited area of the brain and resulting in a decrease of the functions that area of the brain controls. If the cerebral hemispheres (the two lobes of the brain that form the cerebrum) are affected, conscious thought and voluntary processes may be impaired.
Associated Diseases/Disorders: The pattern and rate of progression of cerebral atrophy depends on the disease involved. Diseases that cause cerebral atrophy include:
- stroke and traumatic brain injury - Alzheimers disease, Picks disease, and fronto-temporal dementia - cerebral palsy, in which lesions (damaged areas) may impair motor coordination - Huntingtons disease, and other hereditary diseases that are associated with genetic mutations - leukodystrophies, such as Krabbe disease, which destroy the myelin sheath that protects axons - mitochondrial encephalomyopathies, such as Kearns-Sayre syndrome, which interfere with the basic functions of neurons - multiple sclerosis, which causes inflammation, myelin damage, and lesions in cerebral tissue - infectious diseases, such as encephalitis, neurosyphilis, and AIDS, in which an infectious agent or the inflammatory reaction to it destroys neurons and their axons
Symptoms of cerebral atrophy: Many diseases that cause cerebral atrophy are associated with dementia, seizures, and a group of language disorders called the aphasias.
- Dementia is characterized by a progressive impairment of memory and intellectual function that is severe enough to interfere with social and work skills. Memory, orientation, abstraction, ability to learn, visual-spatial perception, and higher executive functions such as planning, organizing, and sequencing may also be impaired. - Seizures can take different forms, appearing as disorientation, repetitive movements, loss of consciousness, or convulsions. - Aphasias are a group of disorders characterized by disturbances in speaking and understanding language. Receptive aphasia causes impaired comprehension. Expressive aphasia is reflected in odd choices of words, the use of partial phrases, disjointed clauses, and incomplete sentences.
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Cerebral Atrophy
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what research (or clinical trials) is being done for Cerebral Atrophy ?
|
The NINDS funds research looking at many of the diseases and disorders that cause cerebral atrophy. Understanding the biological mechanisms that cause neurons to die in the brain will help researchers find ways to prevent, treat, and even cure the diseases that lead to cerebral atrophy.
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Cerebral Atrophy
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What is (are) Monomelic Amyotrophy ?
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Monomelic amyotrophy (MMA) is characterized by progressive degeneration and loss of motor neurons, the nerve cells in the brain and spinal cord that are responsible for controlling voluntary muscles. It is characterized by weakness and wasting in a single limb, usually an arm and hand rather than a foot and leg. There is no pain associated with MMA. While some physicians contend that mild sensory loss may be associated with this disease, many experts suggest that such symptoms actually indicate a cause other than MMA. MMA occurs in males between the ages of 15 and 25. Onset and progression are slow. MMA is seen most frequently in Asia, particularly in Japan and India; it is much less common in North America. In most cases, the cause is unknown, although there have been a few published reports linking MMA to traumatic or radiation injury. There are also familial forms of MMA. Diagnosis is made by physical exam and medical history. Electromyography (EMG), a special recording technique that detects electrical activity in muscles, shows a loss of the nerve supply, or denervation, in the affected limb; MRI and CT scans may show muscle atrophy. People believed to have MMA should be followed by a neuromuscular disease specialist for a number of months to make certain that no signs of other motor neuron diseases develop.
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Monomelic Amyotrophy
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What are the treatments for Monomelic Amyotrophy ?
|
There is no cure for MMA. Treatment consists of muscle strengthening exercises and training in hand coordination
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Monomelic Amyotrophy
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What is the outlook for Monomelic Amyotrophy ?
|
The symptoms of MMA usually progress slowly for one to two years before reaching a plateau, and then remain stable for many years. Disability is generally slight. Rarely, the weakness progresses to the opposite limb. There is also a slowly progressive variant of MMA known as O'Sullivan-McLeod syndrome, which only affects the small muscles of the hand and forearm and has a slowly progressive course.
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Monomelic Amyotrophy
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what research (or clinical trials) is being done for Monomelic Amyotrophy ?
|
The NINDS conducts and supports a broad range of research on motor neuron diseases. The goals of these studies are to increase understanding of these disorders and to find ways to treat, prevent, and ultimately cure them.
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Monomelic Amyotrophy
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What is (are) Benign Essential Blepharospasm ?
|
Benign essential blepharospasm (BEB) is a progressive neurological disorder characterized by involuntary muscle contractions and spasms of the eyelid muscles. It is a form of dystonia, a movement disorder in which muscle contractions cause sustained eyelid closure, twitching or repetitive movements. BEB begins gradually with increased frequency of eye blinking often associated with eye irritation. Other symptoms may include increasing difficulty in keeping the eyes open, and light sensitivity. Generally, the spasms occur during the day, disappear in sleep, and reappear after waking. As the condition progresses, the spasms may intensify, forcing the eyelids to remain closed for long periods of time, and thereby causing substantial visual disturbance or functional blindness. It is important to note that the blindness is caused solely by the uncontrollable closing of the eyelids and not by a dysfunction of the eyes. BEB occurs in both men and women, although it is especially common in middle-aged and elderly women.
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Benign Essential Blepharospasm
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What are the treatments for Benign Essential Blepharospasm ?
|
In most cases of BEB the treatment of choice is botulinum toxin injections which relax the muscles and stop the spasms. Other treatment options include medications (drug therapy) or surgery--either local surgery of the eye muscles or deep brain stimulation surgery.
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Benign Essential Blepharospasm
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What is the outlook for Benign Essential Blepharospasm ?
|
With botulinum toxin treatment most individuals with BEB have substantial relief of symptoms. Although some may experience side effects such as drooping eyelids, blurred or double vision, and eye dryness, these side effects are usually only temporary. The condition may worsen or expand to surrounding muscles; remain the same for many years; and, in rare cases, improve spontaneously.
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Benign Essential Blepharospasm
|
what research (or clinical trials) is being done for Benign Essential Blepharospasm ?
|
The NINDS supports a broad program of research on disorders of the nervous system, including BEB. Much of this research is aimed at increasing understanding of these disorders and finding ways to prevent, treat, and cure them.
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Benign Essential Blepharospasm
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