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What is the outlook for Megalencephaly ?
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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.
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what research (or clinical trials) is being done for Megalencephaly ?
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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 megalencephaly in laboratories at the NIH and also support additional research through grants to major medical institutions across the country. Much of this research explores the complex mechanisms of normal brain development. The knowledge gained from these fundamental studies will provide a foundation for developing ways to prevent megalencephaly and the other cephalic disorders.
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What is (are) Arachnoiditis ?
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Arachnoiditis describes a pain disorder caused by the inflammation of the arachnoid, one of the membranes that surround and protect the nerves of the spinal cord. The arachnoid can become inflamed because of an irritation from chemicals, infection from bacteria or viruses, as the result of direct injury to the spine, chronic compression of spinal nerves, or complications from spinal surgery or other invasive spinal procedures. Inflammation can sometimes lead to the formation of scar tissue and adhesions, which cause the spinal nerves to stick together. If arachnoiditis begins to interfere with the function of one or more of these nerves, it can cause a number of symptoms, including numbness, tingling, and a characteristic stinging and burning pain in the lower back or legs. Some people with arachnoiditis will have debilitating muscle cramps, twitches, or spasms. It may also affect bladder, bowel, and sexual function. In severe cases, arachnoiditis may cause paralysis of the lower limbs.
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What are the treatments for Arachnoiditis ?
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Arachnoiditis remains a difficult condition to treat, and long-term outcomes are unpredictable. Most treatments for arachnoiditis are focused on pain relief and the improvement of symptoms that impair daily function. A regimen of pain management, physiotheraphy, exercise, and psychotheraphy is often recommended. Surgical intervention is controversial since the outcomes are generally poor and provide only short-term relief.
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What is the outlook for Arachnoiditis ?
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Arachnoiditis is adisorder that causes chronic pain and neurological deficits and does not improve significantly with treatment.Surgery may only provide temporary relief. The outlook for someone witharachnoiditis iscomplicated by the fact that the disorder has no predictable pattern or severity of symptoms.
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what research (or clinical trials) is being done for Arachnoiditis ?
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Within the NINDS research programs, arachnoiditis is addressed primarily through studies associated with pain research. NINDS vigorously pursues a research program seeking new treatments for pain and nerve damage with the ultimate goal of reversing debilitating conditions such as arachnoiditis.
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What is (are) Kennedy's Disease ?
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Kennedy's disease is an inherited motor neuron disease that affects males. It is one of a group of disorders called lower motor neuron disorders (which involve disruptions in the transmission of nerve cell signals in the brain to nerve cells in the brain stem and spinal cord). Onset of the disease is usually between the ages of 20 and 40, although it has been diagnosed in men from their teens to their 70s. Early symptoms include tremor of the outstretched hands, muscle cramps with exertion, and fasciculations (fleeting muscle twitches visible under the skin). Eventually, individuals develop limb weakness which usually begins in the pelvic or shoulder regions. Weakness of the facial and tongue muscles may occur later in the course of the disease and often leads to dysphagia (difficulty in swallowing), dysarthria (slurring of speech), and recurrent aspiration pneumonia. Some individuals develop gynecomastia (excessive enlargement of male breasts) and low sperm count or infertility. Still others develop non-insulin-dependent diabetes mellitus.
Kennedy's disease is an x-linked recessive disease, which means the patient's mother carries the defective gene on one of her X chromosomes. Daughters of patients with Kennedy's disease are also carriers and have a 1 in 2 chance of having a son affected with the disease. Parents with concerns about their children may wish to talk to a genetic counselor.
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What are the treatments for Kennedy's Disease ?
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Currently there is no known cure for Kennedy's disease. Treatment is symptomatic and supportive. Physical therapy and rehabilitation to slow muscle weakness and atrophy may prove helpful.
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What is the outlook for Kennedy's Disease ?
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Kennedy's disease is slowly progressive. Individuals tend to remain ambulatory until late in the disease, although some may be wheelchair-bound during later stages. The life span of individuals with Kennedy's disease is usually normal.
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what research (or clinical trials) is being done for Kennedy's Disease ?
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The NINDS supports a broad spectrum of research on motor neuron diseases, such as Kennedy's disease. Much of this research is aimed at increasing scientific understanding of these diseases and, ultimately, finding ways to prevent, treat, and cure them.
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What is (are) Anencephaly ?
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Anencephaly is a defect in the closure of the neural tube during fetal development. The neural tube is a narrow channel that folds and closes between the 3rd and 4th weeks of pregnancy to form the brain and spinal cord of the embryo. Anencephaly occurs when the "cephalic" or head end of the neural tube fails to close, resulting in the absence of a major portion of the brain, skull, and scalp. Infants with this disorder are born without a forebrain (the front part of the brain) and a cerebrum (the thinking and coordinating part of the brain). The remaining brain tissue is often exposed--not covered by bone or skin. A baby born with anencephaly is usually blind, deaf, unconscious, and unable to feel pain. Although some individuals with anencephaly may be born with a rudimentary brain stem, the lack of a functioning cerebrum permanently rules out the possibility of ever gaining consciousness. Reflex actions such as breathing and responses to sound or touch may occur.
The cause of anencephaly is unknown. Although it is thought that a mother's diet and vitamin intake may play a role, scientists believe that many other factors are also involved.
Recent studies have shown that the addition of folic acid (vitamin B9) to the diet of women of childbearing age may significantly reduce the incidence of neural tube defects. Therefore it is recommended that all women of childbearing age consume 0.4 mg of folic acid daily.
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What are the treatments for Anencephaly ?
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There is no cure or standard treatment for anencephaly. Treatment is supportive.
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What is the outlook for Anencephaly ?
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The prognosis for babies born with anencephaly is extremely poor. If the infant is not stillborn, then he or she will usually die within a few hours or days after birth.
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what research (or clinical trials) is being done for Anencephaly ?
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Research supported by the NINDS includes studies to understand how the brain and nervous system normally develop. These studies contribute to a greater understanding of neural tube disorders, such as anencephaly, and open promising new avenues to treat and prevent neurological birth defects.
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What is (are) Restless Legs Syndrome ?
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Restless legs syndrome (RLS) is a neurological disorder characterized by unpleasant sensations in the legs and an uncontrollable, and sometimes overwhelming, urge to move them for relief. Individuals affected with the disorder often describe the sensations as throbbing, polling, or creeping. The sensations range in severity from uncomfortable to irritating to painful.
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What are the treatments for Restless Legs Syndrome ?
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For those with mild to moderate symptoms, many physicians suggest certain lifestyle changes and activities to reduce or eliminate symptoms. Decreased use of caffeine, alcohol, and tobacco may provide some relief. Physicians may suggest that certain individuals take supplements to correct deficiencies in iron, folate, and magnesium. Taking a hot bath, massaging the legs, or using a heating pad or ice pack can help relieve symptoms in some patients.
Physicians also may suggest a variety of medications to treat RLS, including dopaminergics, benzodiazepines (central nervous system depressants), opioids, and anticonvulsants. The drugs ropinirole, pramipexole, gabapentin enacarbil, and rotigotine have been approved by the U.S. Food and Drug Administration for treating moderate to severe RLS. The Relaxis pad, which the person can place at the site of discomfort when in bed and provides 30 minutes of vibrations (counterstimulation) that ramp off after 30 minutes, also has been approved by the FDA.
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What is the outlook for Restless Legs Syndrome ?
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RLS is generally a life-long condition for which there is no cure. Symptoms may gradually worsen with age. Nevertheless, current therapies can control the disorder, minimizing symptoms and increasing periods of restful sleep. In addition, some individuals have remissions, periods in which symptoms decrease or disappear for days, weeks, or months, although symptoms usually eventually reappear.
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what research (or clinical trials) is being done for Restless Legs 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 and support RLS research in laboratories at the NIH and at major medical institutions across the country. The goal of this research is to increase scientific understanding of RLS, find improved methods of diagnosing and treating the syndrome, and discover ways to prevent it.
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What is (are) Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) ?
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Chronic inflammatory demyelinating polyneuropathy (CIDP) is a neurological disorder characterized by progressive weakness and impaired sensory function in the legs and arms. The disorder, which is sometimes called chronic relapsing polyneuropathy, is caused by damage to the myelin sheath (the fatty covering that wraps around and protects nerve fibers) of the peripheral nerves. Although it can occur at any age and in both genders, CIDP is more common in young adults, and in men more so than women. It often presents with symptoms that include tingling or numbness (beginning in the toes and fingers), weakness of the arms and legs, loss of deep tendon reflexes (areflexia), fatigue, and abnormal sensations. CIDP is closely related to Guillain-Barre syndrome and it is considered the chronic counterpart of that acute disease.
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What are the treatments for Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) ?
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Treatment for CIDP includes corticosteroids such as prednisone, which may be prescribed alone or in combination with immunosuppressant drugs. Plasmapheresis (plasma exchange) and intravenous immunoglobulin (IVIg) therapy are effective. IVIg may be used even as a first-line therapy. Physiotherapy may improve muscle strength, function and mobility, and minimize the shrinkage of muscles and tendons and distortions of the joints.
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What is the outlook for Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) ?
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The course of CIDP varies widely among individuals. Some may have a bout of CIDP followed by spontaneous recovery, while others may have many bouts with partial recovery in between relapses. The disease is a treatable cause of acquired neuropathy and initiation of early treatment to prevent loss of nerve axons is recommended. However, some individuals are left with some residual numbness or weakness.
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what research (or clinical trials) is being done for Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) ?
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The NINDS supports a broad program of research on disorders of the nervous system, including CIDP. Much of this research is aimed at increasing the understanding of these disorders and finding ways to prevent, treat, and cure them.
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What is (are) Tremor ?
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Tremor is an unintentional, rhythmic, muscle movement involving to-and-fro movements of one or more parts of the body. Most tremors occur in the hands, although they can also affect the arms, head, face, voice, trunk, and legs. Sometimes tremor is a symptom of another neurological disorder or a side effect of certain drugs, but the most common form occurs in otherwise healthy people. Some forms of tremor are inherited and run in families, while others have no known cause. Excessive alcohol consumption or alcohol withdrawal can kill certain nerve cells, resulting in tremor, especially in the hand. Other causes include an overactive thyroid and the use of certain drugs. Tremor may occur at any age but is most common in middle-aged and older persons.
There are several forms of tremor, including:
Essential tremor (sometimes called benign essential tremor) is the most common form of abnormal tremor.The hands are most often affected but the head, voice, tongue, legs, and trunk may also be involved. Head tremor may be seen as a "yes-yes" or "no-no" motion. Onset is most common after age 40, although symptoms can appear at any age. Parkinsonian tremor is caused by damage to structures within the brain that control movement. The tremor is classically seen as a "pill-rolling" action of the hands but may also affect the chin, lips, legs, and trunk. Dystonic tremor occurs in individuals of all ages who are affected by dystonia, a movement disorder in which sustained involuntary muscle contractions cause twisting motions or painful postures or positions.
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What are the treatments for Tremor ?
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There is no cure for most tremors. The appropriate treatment depends on accurate diagnosis of the cause. Drug treatment for parkinsonian tremor involves levodopa or dopamine-like drugs such as pramipexole and ropinirole. Essential tremor may be treated with propranolol or other beta blockers (such as nadolol) and primidone, an anticonvulsant drug. Dystonic tremor may respond to clonazepam, anticholinergic drugs, and intramuscular injections of botulinum toxin. Eliminating tremor "triggers" such as caffeine and other stimulants from the diet is often recommended. Physical therapy may help to reduce tremor and improve coordination and muscle control for some individuals. Surgical intervention, such as thalamotomy and deep brain stimulation, are usually performed only when the tremor is severe and does not respond to drugs.
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What is the outlook for Tremor ?
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Although tremor is not life-threatening, it can be embarrassing to some people and make it harder to perform daily tasks.
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what research (or clinical trials) is being done for Tremor ?
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The National Institute of Neurological Disorders and Stroke, a unit of the National Institutes of Health (NIH) within the U.S. Department of Health and Human Services, is the nations leading federal funder of research on disorders of the brain and nervous system. The NINDS sponsors research on tremor both at its facilities at the NIH and through grants to medical centers. Scientists are evaluating the effectiveness of certain drugs and searching for genes that can cause certain forms of tremor.
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What is (are) Mucolipidoses ?
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The mucolipidoses (ML) are a group of inherited metabolic diseases that affect the bodys ability to carry out the normal turnover of various materials within cells. In ML, abnormal amounts of carbohydrates and fatty materials (lipids) accumulate in cells. Because our cells are not able to handle such large amounts of these substances, damage to the cells occurs, causing symptoms that range from mild learning disabilities to severe intellectual impairment and skeletal deformities.
The group includes four diseases:
- Mucolipidosis I (sialidosis) - Mucolipidosis II (inclusion-cell, or I-cell, disease) - Mucolipidosis III (pseudo-Hurler polydystrophy) - Mucolipidosis IV
The MLs are classified as lysosomal storage diseases because they involve increased storage of substances in the lysosomes, which are specialized sac-like components within most cells. Individuals with ML are born with a genetic defect in which their bodies either do not produce enough enzymes or, in some instances, produce ineffective forms of enzymes. Without functioning enzymes, lysosomes cannot break down carbohydrates and lipids and transport them to their normal destination. The molecules then accumulate in the cells of various tissues in the body, leading to swelling and damage of organs.
The mucolipidoses occur only when a child inherits two copies of the defective gene, one from each parent. When both parents carry a defective gene, each of their children faces a one in four chance of developing one of the MLs.
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What are the treatments for Mucolipidoses ?
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No cures or specific therapies for ML currently exists. Therapies are generally geared toward treating symptoms and providing supportive care to the child. For individuals with corneal clouding, surgery to remove the thin layer over the eye has been shown to reduce the cloudiness in the eye. However, this improvement may be only temporary. Physical and occupational therapy may help children with motor delays. Children with language delays may benefit from speech therapy. Children at risk for failure to thrive (growth failure) may need nutritional supplements, especially iron and vitamin B12 for persons with ML IV. Respiratory infections should be treated immediately and fully with antibiotics.
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What is the outlook for Mucolipidoses ?
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Symptoms of ML can be congenital (present at birth) or begin in early childhood or adolescence. Early symptoms can include skeletal abnormalities, vision problems and developmental delays. Over time, many children with ML develop poor mental capacities, have difficulty reaching normal developmental milestones, and, in many cases, eventually die of the disease.
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what research (or clinical trials) is being done for Mucolipidoses ?
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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. Investigators are conducting studies to determine the effects of ML genetic mutations in various animal models of the disease. Studying the disease mechanisms in these models may allow scientists to develop treatments for people with an ML disorder.Clinical trials include a natural history of individuals with ML IV, to better understand the disease and identify potential outcomes, and longitudinal studies to better understand disease progression, assess current therapies, and identify potential treatments.
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What is (are) Infantile Refsum Disease ?
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Infantile Refsum disease (IRD) is a medical condition within the Zellweger spectrum of perixisome biogenesis disorders (PBDs), inherited genetic disorders that damage the white matter of the brain and affect motor movements. PBDs are part of a larger group of disorders called the leukodystrophies. The Zellweger spectrum of PBDs include related, but not more severe, disorders referred to as Zellweger syndrome (ZS) and neonatal adrenoleukodystrophy. Collectively, these disorders are caused by inherited defects in any one of 12 genes, called PEX genes, which are required for the normal formation and function of peroxisomes. Peroxisomes are cell structures required for the normal formation and function of the brain, eyes, liver, kidneys, and bone. They contain enzymes that break down toxic substances in the cells, including very long chain fatty acids and phytanic acid (a type of fat found in certain foods), and synthesize certain fatty materials (lipids) that are required for cell function. When peroxisomes are not functioning, there is over-accumulation of very long chain fatty acids and phytanic acid, and a lack of bile acids and plasmalogens--specialized lipids found in cell membranes and the myelin sheaths and encase and protect nerve fibers.. IRD has some residual perixisome function, resulting in less severe disease than in Zellweger syndrome. Symptoms of IRD begin in infancy with retinitis pigmentosa, a visual impairment that often leads to blindness, and hearing problems that usually progress to deafness by early childhood. Other symptoms may include rapid, jerky eye movements (nystagmus); floppy muscle tone (hypotonia) and lack of muscle coordination (ataxia); mental and growth disabilities; abnormal facial features; enlarged liver; and white matter abnormalities of brain myelin. At the mildest extreme of the disorder, intellect may be preserved. Although Adult Refsum disease and IRD have similar names, they are separate disorders caused by different gene defects.
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What are the treatments for Infantile Refsum Disease ?
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The primary treatment for IRD is to avoid foods that contain phytanic acid, including dairy products; beef and lamb; and fatty fish such as tuna, cod, and haddock. Although this prevents the accumulation of phytanic acid, it does not address the accumulation of very long chain fatty acids, and the deficiency of bile acids and plasmalogens.
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What is the outlook for Infantile Refsum Disease ?
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IRD is a fatal disease, but some children will survive into their teens and twenties, and possibly even beyond.
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what research (or clinical trials) is being done for Infantile Refsum Disease ?
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The National Institute of Neurological Disorders and Stroke (NINDS) conducts research related to IRDin its laboratories at the National Institutes of Health (NIH), and also supports additional research through grants to major medical institutions across the country. Research is focused on finding better ways to prevent, treat, and ultimately cure disorders such as the PBDs.
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What is (are) Barth Syndrome ?
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Barth syndrome (BTHS) is a rare, genetic disorder of lipid metabolism that primarily affects males. It is caused by a mutation in the tafazzin gene (TAZ, also called G4.5) which leads to decreased production of an enzyme required to produce cardiolipin. Cardiolipin is an essential lipid that is important in energy metabolism. BTHS, which affects multiple body systems, is considered serious. Its main characteristics often include combinations in varying degrees of heart muscle weakness (cardiomyopathy), neutropenia (low white blood cell cunt, which may lead to an increased risk for bacterial infections), reduced muscle tone (hypotonia), muscle weakness, undeveloped skeletal muscles, delayed growth, fatigue, varying degrees of physical disability, and methylglutaconic aciduria (an increase in an organic acid that results in abnormal mitochondria function). Although some with BTHS may have all of these characteristics, others may have only one or two and are often misdiagnosed. BTHS is an X-linked genetic condition passed from mother to son through the X chromosome. A mother who is a carrier of BTHS typically shows no signs or symptoms of the disorder herself. On average, 50 percent of children born to a carrier mother will inherit the defective gene, but only boys will develop symptoms. All daughters born to an affected male will be carriers but typically will not have symptoms.
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What are the treatments for Barth Syndrome ?
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There is no specific treatment for Barth syndrome. Bacterial infections caused by neutropenia can be effectively treated with antibiotics. The drug granulocyte colony stimulating factor, or GCSF, can stimulate white cell production by the bone marrow and help combat infection. Medicines may be prescribed to control heart problems. The dietary supplement carnitine has aided some children with Barth syndrome but in others it has caused increasing muscle weakness and even precipitated heart failure. Only careful dietary monitoring directed by a physician or nutritionist familiar with the disorder can ensure proper caloric and nutritional intake.
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What is the outlook for Barth Syndrome ?
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Early and accurate diagnosis is key to prolonged survival for boys born with Barth syndrome. The disorder was once considered uniformly fatal in infancy, but some individuals are now living much longer. Severe infections and cardiac failure are common causes of death in affected children.
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what research (or clinical trials) is being done for Barth Syndrome ?
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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 supports research on genetic disorders such as Barth syndrome, including basic research on mitochondrial dysfunction and investigations of other inborn errors of metabolism. Scientists have identified many of the genetic mutations that cause mitochondrial diseases and have created animal models which can be used to investigate potential treatments. Scientists hope to develop unique approaches to treating mitochondrial diseases through a better understanding of mitochondrial biology. Because people affected by mitochondrial disease often have a mixture of healthy and mutant mitochondria in their cells, effective therapy could involve getting the healthy mitochondria to take over for the diseased ones.
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What is (are) Familial Periodic Paralyses ?
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Familial periodic paralyses are a group of inherited neurological disorders caused by mutations in genes that regulate sodium and calcium channels in nerve cells. They are characterized by episodes in which the affected muscles become slack, weak, and unable to contract. Between attacks, the affected muscles usually work as normal.
The two most common types of periodic paralyses are: Hypokalemic periodic paralysis is characterized by a fall in potassium levels in the blood. In individuals with this mutation attacks often begin in adolescence and are triggered by strenuous exercise, high carbohydrate meals, or by injection of insulin, glucose, or epinephrine. Weakness may be mild and limited to certain muscle groups, or more severe and affect the arms and legs. Attacks may last for a few hours or persist for several days. Some patients may develop chronic muscle weakness later in life. Hyperkalemic periodic paralysis is characterized by a rise in potassium levels in the blood. Attacks often begin in infancy or early childhood and are precipitated by rest after exercise or by fasting. Attacks are usually shorter, more frequent, and less severe than the hypokalemic form. Muscle spasms are common.
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What are the treatments for Familial Periodic Paralyses ?
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Treatment of the periodic paralyses focuses on preventing further attacks and relieving acute symptoms. Avoiding carbohydrate-rich meals and strenuous exercise, and taking acetazolamide daily may prevent hypokalemic attacks. Attacks can be managed by drinking a potassium chloride oral solution. Eating carbohydrate-rich, low-potassium foods, and avoiding strenuous exercise and fasting, can help prevent hyperkalemic attacks. Dichorphenamide may prevent attacks.
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What is the outlook for Familial Periodic Paralyses ?
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The prognosis for the familial periodic paralyses varies. Chronic attacks may result in progressive weakness that persists between attacks. Some cases respond well to treatment, which can prevent or reverse progressive muscle weakness.
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what research (or clinical trials) is being done for Familial Periodic Paralyses ?
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The NINDS conducts and supports research on neuromuscular disorders such as the familial periodic paralyses. These studies are aimed at increasing knowledge about these disorders and finding ways to prevent, treat, and cure them.
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What is (are) Developmental Dyspraxia ?
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Developmental dyspraxia is a disorder characterized by an impairment in the ability to plan and carry out sensory and motor tasks. Generally, individuals with the disorder appear "out of sync" with their environment. Symptoms vary and may include poor balance and coordination, clumsiness, vision problems, perception difficulties, emotional and behavioral problems, difficulty with reading, writing, and speaking, poor social skills, poor posture, and poor short-term memory. Although individuals with the disorder may be of average or above average intelligence, they may behave immaturely.
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What are the treatments for Developmental Dyspraxia ?
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Treatment is symptomatic and supportive and may include occupational and speech therapy, and "cueing" or other forms of communication such as using pictures and hand gestures. Many children with the disorder require special education.
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What is the outlook for Developmental Dyspraxia ?
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Developmental dyspraxia is a lifelong disorder. Many individuals are able to compensate for their disabilities through occupational and speech therapy.
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what research (or clinical trials) is being done for Developmental Dyspraxia ?
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The NINDS supports research on developmental disorders, such as developmental dyspraxia, aimed at learning more about these disorders, and finding ways to prevent and treat them.
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What is (are) Locked-In Syndrome ?
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Locked-in syndrome is a rare neurological disorder characterized by complete paralysis of voluntary muscles in all parts of the body except for those that control eye movement. It may result from traumatic brain injury, diseases of the circulatory system, diseases that destroy the myelin sheath surrounding nerve cells, or medication overdose. Individuals with locked-in syndrome are conscious and can think and reason, but are unable to speak or move. The disorder leaves individuals completely mute and paralyzed. Communication may be possible with blinking eye movements
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What are the treatments for Locked-In Syndrome ?
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There is no cure for locked-in syndrome, nor is there a standard course of treatment. A therapy called functional neuromuscular stimulation, which uses electrodes to stimulate muscle reflexes, may help activate some paralyzed muscles. Several devices to help communication are available. Other treatment is symptomatic and supportive.
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What is the outlook for Locked-In Syndrome ?
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While in rare cases some patients may regain certain functions, the chances for motor recovery are very limited.
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what research (or clinical trials) is being done for Locked-In Syndrome ?
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The NINDS supports research on neurological disorders that can cause locked-in syndrome. The goals of this research are to find ways to prevent, treat, and cure these disorders.
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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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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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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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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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What is (are) Syncope ?
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Syncope is a medical term used to describe a temporary loss of consciousness due to the sudden decline of blood flow to the brain. Syncope is commonly called fainting or passing out. If an individual is about to faint, he or she will feel dizzy, lightheaded, or nauseous and their field of vision may white out or black out. The skin may be cold and clammy. The person drops to the floor as he or she loses consciousness. After fainting, an individual may be unconscious for a minute or two, but will revive and slowly return to normal. Syncope can occur in otherwise healthy people and affects all age groups, but occurs more often in the elderly.
Vasovagal
Carotid sinus
Situational
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What are the treatments for Syncope ?
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The immediate treatment for an individual who has fainted involves checking first to see if their airway is open and they are breathing. The person should remain lying down for at least 10-15 minutes, preferably in a cool and quiet space. If this isnt possible, have the individual sit forward and lower their head below their shoulders and between their knees. Ice or cold water in a cup is refreshing. For individuals who have problems with chronic fainting spells, therapy should focus on recognizing the triggers and learning techniques to keep from fainting. At the appearance of warning signs such as lightheadedness, nausea, or cold and clammy skin, counter-pressure maneuvers that involve gripping fingers into a fist, tensing the arms, and crossing the legs or squeezing the thighs together can be used to ward off a fainting spell. If fainting spells occur often without a triggering event, syncope may be a sign of an underlying heart disease.
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What is the outlook for Syncope ?
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Syncope is a dramatic event and can be life-threatening if not treated properly. Generally, however, people recover completely within minutes to hours. If syncope is symptomatic of an underlying condition, then the prognosis will reflect the course of the disorder.
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what research (or clinical trials) is being done for Syncope ?
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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 syncope in laboratories at the NIH and support additional research through grants to major medical institutions across the country. Much of this research focuses on finding better ways to prevent and treat syncope.
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What is (are) Paroxysmal Choreoathetosis ?
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Paroxysmal choreoathetosis is a movement disorder characterized by episodes or attacks of involuntary movements of the limbs, trunk, and facial muscles. The disorder may occur in several members of a family, or in only a single family member. Prior to an attack some individuals experience tightening of muscles or other physical symptoms. Involuntary movements precipitate some attacks, and other attacks occur when the individual has consumed alcohol or caffeine, or is tired or stressed. Attacks can last from 10 seconds to over an hour. Some individuals have lingering muscle tightness after an attack. Paroxysmal choreoathetosis frequently begins in early adolescence. A gene associated with the disorder has been discovered. The same gene is also associated with epilepsy.
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What are the treatments for Paroxysmal Choreoathetosis ?
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Drug therapy, particularly carbamazepine, has been very successful in reducing or eliminating attacks of paroxysmal choreoathetosis. While carbamazepine is not effective in every case, other drugs have been substituted with good effect.
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What is the outlook for Paroxysmal Choreoathetosis ?
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Generally, paroxysmal choreoathetosis lessens with age, and many adults have a complete remission. Because drug therapy is so effective, the prognosis for the disorder is good.
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what research (or clinical trials) is being done for Paroxysmal Choreoathetosis ?
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NINDS supports and conducts research on movement disorders such as paroxysmal choreoathetosis. Much of this research is aimed at finding ways to prevent and treat these disorders.
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What is (are) Giant Axonal Neuropathy ?
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Giant axonal neuropathy (GAN) is a rare inherited genetic disorder that affects both the central and peripheral nervous systems. The majority of children with GAN will begin to show symptoms of the disease sometime before five years of age. Signs of GAN usually begin in the peripheral nervous system, which controls movement and sensation in the arms, legs, and other parts of the body. The typical symptoms of GAN are clumsiness and muscle weakness that progresses from a waddling gait to a pronounced difficulty in walking. Additional symptoms include numbness or lack of feeling in the arms and legs, seizures, nystagmus (rapid back and forth movement of the eyes), and impaired cognitive development. A characteristic sign of the disease is dull, tightly curled hair that is markedly different from the parents in color and texture.
Researchers have discovered more than 20 different mutations associated with GAN in a gene, GAN1, which makes a protein called gigaxonin. These mutations disrupt the regulation or production of gigaxonin in the nervous system. As a result, axons, which are the long tails of neurons that allow them to communicate with other nerve cells, swell up with tangled filaments and become abnormally large. Eventually these axons deteriorate and cause problems with movement and sensation since neurons are no longer able to communicate with each other.
Doctors diagnose GAN by using several tests, including one that measures nerve conduction velocity, a brain MRI, and a peripheral nerve biopsy (in which a bit of tissue from a peripheral nerve is removed and examined to look for swollen axons). A definitive diagnosis using genetic testing is available on a research basis only.
GAN is inherited in an autosomal recessive pattern, which means that both parents of a child with GAN have to carry a copy of the mutated gene. Parents, typically, will show no signs of the disease.
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What are the treatments for Giant Axonal Neuropathy ?
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Treatment is symptomatic. Children with GAN and their families usually work with a medical team that includes a pediatric neurologist, orthopedic surgeon, physiotherapist, psychologist, and speech and occupational therapists. The major goals of treatment are to maximize intellectual and physical development and minimize their deterioration as time passes. Many children with GAN begin with normal intellectual development and are able to attend a regular school program. Children should be monitored at least once a year to assess their intellectual abilities and to look for the presence of neurological deterioration.
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What is the outlook for Giant Axonal Neuropathy ?
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GAN generally progresses slowly as neurons degenerate and die. Most children have problems with walking in the early stages of the disorder. Later they may lose sensation, coordination, strength, and reflexes in their arms and legs. As time goes on, the brain and spinal cord may become involved, causing a gradual decline in mental function, loss of control of body movement, and seizures. Most children become wheelchair dependent in the second decade of life. Some children may survive into early adulthood.
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what research (or clinical trials) is being done for Giant Axonal Neuropathy ?
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The National Institute of Neurological Disorders and Stroke (NINDS) supports research related to GAN through grants to major medical institutions across the country. Much of this research focuses on finding better ways to prevent, treat, and ultimately cure inherited neurological disorders such as GAN.
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What is (are) Primary Lateral Sclerosis ?
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Primary lateral sclerosis (PLS) is a rare neuromuscular disease with slowly progressive weakness in voluntary muscle movement. PLS belongs to a group of disorders known as motor neuron diseases. PLS affects the upper motor neurons (also called corticospinal neurons) in the arms, legs, and face. It occurs when nerve cells in the motor regions of the cerebral cortex (the thin layer of cells covering the brain which is responsible for most higher level mental functions) gradually degenerate, causing movements to be slow and effortful. The disorder often affects the legs first, followed by the body, trunk, arms and hands, and, finally the bulbar muscles (muscles that control speech, swallowing, and chewing). Symptoms include weakness, muscle stiffness and spasticity, clumsiness, slowing of movement, and problems with balance and speech. PLS is more common in men than in women, with a varied gradual onset that generally occurs between ages 40 and 60. PLS progresses gradually over a number of years, or even decades. Scientists do not believe PLS has a simple hereditary cause. The diagnosis of PLS requires extensive testing to exclude other diseases. When symptoms begin, PLS may be mistaken for amyotrophic lateral sclerosis (ALS) or spastic paraplegia. Most neurologists follow an affected individual's clinical course for at least 3 to 4 years before making a diagnosis of PLS..
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What are the treatments for Primary Lateral Sclerosis ?
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Treatment for individuals with PLS is symptomatic. Muscle relaxants such as baclofen, tizanidine, and the benzodiazepines may reduce spasticity. Other drugs may relieve pain and antidepressants can help treat depression. Physical therapy, occupational therapy, and rehabilitation may prevent joint immobility and slow muscle weakness and atrophy. Assistive devices such as supports or braces, speech synthesizers, and wheelchairs ma help some people retain independence.. Speech therapy may be useful for those with involvement of the facial muscles.
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What is the outlook for Primary Lateral Sclerosis ?
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PLS is not fatal. There is no cure and the progression of symptoms varies. Some people may retain the ability to walk without assistance, but others eventually require wheelchairs, canes, or other assistive devices.
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what research (or clinical trials) is being done for Primary Lateral Sclerosis ?
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The NINDS conducts a broad range of research on neuromuscular disorders such as PLS. This research is aimed at developing techniques to diagnose, treat, prevent, and ultimately cure these devastating diseases.
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What is (are) Encephaloceles ?
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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 the skull, or the area between the forehead and nose, or the back of the skull. When located in the back of the skull, encephaloceles are often associated with neurological problems. Usually encephaloceles are dramatic deformities diagnosed immediately after birth, but occasionally a small encephalocele in the nasal and forehead region can go undetected. Encephaloceles are often accompanied by craniofacial abnormalities or other brain malformations. Symptoms and associated abnormalities of encephaloceles may include hydrocephalus (excessive accumulation of cerebrospinal fluid in the brain), spastic quadriplegia (paralysis of the arms and legs), microcephaly (abnormally small head), ataxia (uncoordinated movement of the voluntary muscles, such as those involved in walking and reaching), developmental delay, vision problems, mental and growth retardation, and seizures. Some affected children may have normal intelligence. There is a genetic component to the condition; it often occurs in families with a history of spina bifida and anencephaly in family members.
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What are the treatments for Encephaloceles ?
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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 surgical treatment with a shunt. Other treatment is symptomatic and supportive.
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What is the outlook for Encephaloceles ?
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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.
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what research (or clinical trials) is being done for Encephaloceles ?
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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 disorders including neural tube defects such as encephaloceles.
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What is (are) Thyrotoxic Myopathy ?
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Thyrotoxic myopathy is a neuromuscular disorder that may accompany hyperthyroidism (Graves' disease, caused by overproduction of the thyroid hormone thyroxine). Symptoms may include muscle weakness, myalgias (muscle tenderness), wasting of the pelvic girdle and shoulder muscles, fatigue, and/or heat intolerance. Thyroid myopathy may be associated with rhabdomyolysis (acute muscle breakdown), damage to the muscles that control eye movement, and temporary, but severe, attacks of muscle weakness that are associated with low blood potassium levels (known as periodic paralysis).
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What are the treatments for Thyrotoxic Myopathy ?
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Treatment involves restoring normal levels of thyroid hormone and may include thyroid drugs, radioactive iodine, and sometimes partial or complete surgical removal of the thyroid.
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What is the outlook for Thyrotoxic Myopathy ?
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With treatment, muscle weakness may improve or be reversed.
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what research (or clinical trials) is being done for Thyrotoxic Myopathy ?
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The NINDS supports a broad range of research on neuromuscular disorders such as thyrotoxic myopathy. Much of this research is aimed at learning more about these disorders and finding ways to prevent and treat them.
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What is (are) Neuromyelitis Optica ?
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Neuromyelitis optica (NMO) is an autoimmune disease of the central nervous system (CNS) that predominantly affects the optic nerves and spinal cord. It is sometimes also referred to as NMO spectrum disorder.In NMO, the body's immune system mistakenly attacks healthy cells and proteins in the body, must often those in the spinal cord and eyes. Individuals with NMO develop optic neuritis, which caused pain in the eye and vision loss. Individuals also develop transverse myelitis, which causes weakness or paralysis of arms and legs,and numbness, along with loss of bladder and bowel control Magnetic resonance imaging of the spine often shows an abnormality that extends over long segments of the spinal cord. Individuals may also develop episodes of severe nausea and vomiting, with hiccups from involvement of a part of the brain that ocntrols vomiting The disease is caused by abnormal autoantibodies that bind to a protein called aquaporin-4. Binding of the aquaporin-4 antibody activates other components of the immune system, causing inflammation and damage to these cells. This also results in the brain and spinal cord the loss of myelin, the fatty substance that acts as insulation around nerve fibers and helps nerve signals move from cell to cell.
NMO is different from multiple sclerosis (MS). Attacks are usually more severe in NMO than in MS, and NMO is treated differently than MS. Most individuals with NMO experience clusters of attacks days to months or years apart, followed by partial recovery during periods of remission. Women are more often affected by NMO than men. African Americans are at greater risk of the disease than are Caucasians. The onset of NMO varies from childhood to adulthood, with two peaks, one in childhood and the other in adults in their 40s.
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What are the treatments for Neuromyelitis Optica ?
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There is no cure for NMO and no FDA-approved therapies, but there are therapies to treat an attack while it is happening, to reduce symptoms, and to prevent relapses.NMO relapses and attacks are often treated with corticosteroid drugs and plasma exchange (also called plasmapheresis, a process used to remove harmful antibodies from the bloodstream). Immunosuppressvie drugs used to prevent attacks include mycophenolate mofetil, rituximab, and azathioprine. Pain, stiffness, muscle spasms, and bladder and bowel control problems can be managed with medicaitons and therapies. Individuals with major disability will require the combined efforts to physical and occupational therapists, along with social services professionals to address complex rehabilitation needs.
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What is the outlook for Neuromyelitis Optica ?
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Most individuals with NMO have an unpredictable, relapsing course of disease with attacks occurring months or years apart. Disability is cumulative, the result of each attack damaging new areas of the central nervous system. Some individuals are severely affected by NMO and can lose vision in both eyes and the use of their arms and legs. Most individuals experience some degree of permanent limb weakness or vision loss from NMO. However, reducing the number of attacks with immunosuppressive medications may help prevent with accumulation of disability. Rarely, muscle weakness can be severe enough to cause breathing difficulties and may require the use of artificial ventilation.
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what research (or clinical trials) is being done for Neuromyelitis Optica ?
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The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge of the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. The NINDS is a component of the National Institutes of Health, the leading supporter of biomedical research in the world. NINDS researchers are working to better understand the process by which the immune system destroys or attacks the nerve insulating substance called myelin in autoijmune diseases or disorders. Other work focuses on strategies to repair demyelinated spinal cords, including approaches using cell transplantation. this research may lead to a grater understanding of the mechanisms responsible for damaging myelin and may ultimately provide a means to prevent and treat transverse myelitis An NINDS-funded study comparing clinical MRI and lumbar puncture of healthy individuals to those with symptoms of immune-related central nervous system damage hopes to identify processes or mechanisms to inhibit or minimize spinal tissue damage and enhance recovery mechanisms. Multiple studies are looking at ways to target different components of the immune system known to be involved in NMO spectrum disorders to allow more directly targeted treatment of this disease.
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What is (are) Leigh's Disease ?
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Leigh's disease is a rare inherited neurometabolic disorder that affects the central nervous system. This progressive disorder begins in infants between the ages of three months and two years.Rarely, it occurs in teenagers and adults.Leigh's disease can be caused by mutations in mitochondrial DNA or by deficiencies of an enzyme called pyruvate dehydrogenase. Symptoms of Leigh's disease usually progress rapidly. The earliest signs may be poor sucking ability,and the loss of head control and motor skills.These symptoms may be accompanied by loss of appetite, vomiting, irritability, continuous crying, and seizures. As the disorder progresses, symptoms may also include generalized weakness, lack of muscle tone, and episodes of lactic acidosis, which can lead to impairment of respiratory and kidney function.
In Leighs disease, genetic mutations in mitochondrial DNA interfere with the energy sources that run cells in an area of the brain that plays a role in motor movements.The primary function of mitochondria is to convert the energy in glucose and fatty acids into a substance called adenosine triphosphate ( ATP). The energy in ATP drives virtually all of a cell's metabolic functions. Genetic mutations in mitochondrial DNA, therefore, result in a chronic lack of energy in these cells, which in turn affects the central nervous system and causes progressive degeneration of motor functions.
There is also a form of Leighs disease (called X-linked Leigh's disease) which is the result of mutations in a gene that produces another group of substances that are important for cell metabolism. This gene is only found on the X chromosome.
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What are the treatments for Leigh's Disease ?
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The most common treatment for Leigh's disease is thiamine or Vitamin B1. Oral sodium bicarbonate or sodium citrate may also be prescribed to manage lactic acidosis. Researchers are currently testing dichloroacetate to establish its effectiveness in treating lactic acidosis. In individuals who have the X-linked form of Leighs disease, a high-fat, low-carbohydrate diet may be recommended.
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What is the outlook for Leigh's Disease ?
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The prognosis for individuals with Leigh's disease is poor. Individuals who lack mitochondrial complex IV activity and those with pyruvate dehydrogenase deficiency tend to have the worst prognosis and die within a few years. Those with partial deficiencies have a better prognosis, and may live to be 6 or 7 years of age. Some have survived to their mid-teenage years.
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what research (or clinical trials) is being done for Leigh's Disease ?
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The NINDS supports and encourages a broad range of basic and clinical research on neurogenetic disorders such as Leigh's disease. The goal of this research is to understand what causes these disorders and then to apply these findings to new ways to diagnose, treat, and prevent them.
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What is (are) Migraine ?
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The pain of a migraine headache is often described as an intense pulsing or throbbing pain in one area of the head. However, it is much more; the International Headache Society diagnoses a migraine by its pain and number of attacks (at least 5, lasting 4-72 hours if untreated), and additional symptoms including nausea and/or vomiting, or sensitivity to both light and sound. Migraine is three times more common in women than in men and affects more than 10 percent of people worldwide. Roughly one-third of affected individuals can predict the onset of a migraine because it is preceded by an "aura," visual disturbances that appear as flashing lights, zig-zag lines or a temporary loss of vision. People with migraine tend to have recurring attacks triggered by a number of different factors, including stress, anxiety, hormonal changes, bright or flashing lights, lack of food or sleep, and dietary substances. Migraine in some women may relate to changes in hormones and hormonal levels during their menstrual cycle. For many years, scientists believed that migraines were linked to the dilation and constriction of blood vessels in the head. Investigators now believe that migraine has a genetic cause.
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What are the treatments for Migraine ?
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There is no absolute cure for migraine since its pathophysiology has yet to be fully understood. There are two ways to approach the treatment of migraine headache with drugs: prevent the attacks, or relieve the symptoms during the attacks. Prevention involves the use of medications and behavioral changes. Drugs originally developed for epilepsy, depression, or high blood pressure to prevent future attacks have been shown to be extremely effective in treating migraine. Botulinum toxin A has been shown to be effective in prevention of chronic migraine. Behaviorally, stress management strategies, such as exercise, relaxation techniques, biofeedback mechanisms, and other therapies designed to limit daily discomfort, may reduce the number and severity of migraine attacks. Making a log of personal triggers of migraine can also provide useful information for trigger-avoiding lifestyle changes, including dietary considerations, eating regularly scheduled meals with adequate hydration, stopping certain medications, and establishing a consistent sleep schedule. Hormone therapy may help some women whose migraines seem to be linked to their menstrual cycle. A weight loss program is recommended for obese individuals with migraine.
Relief of symptoms, or acute treatments, during attacks consists of sumatriptan, ergotamine drugs, and analgesics such as ibuprofen and aspirin. The sooner these treatments are administered, the more effective they are.
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What is the outlook for Migraine ?
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Responsive prevention and treatment of migraine is incredibly important. Evidence shows an increased sensitivity after each successive attack, eventually leading to chronic daily migraine in some individuals With proper combination of drugs for prevention and treatment of migraine attacks most individuals can overcome much of the discomfort from this debilitating disorder. Women whose migraine attacks occur in association with their menstrual cycle are likely to have fewer attacks and milder symptoms after menopause.
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what research (or clinical trials) is being done for Migraine ?
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Researchers believe that migraine is the result of fundamental neurological abnormalities caused by genetic mutations at work in the brain. New models are aiding scientists in studying the basic science involved in the biological cascade, genetic components and mechanisms of migraine. Understanding the causes of migraine as well as the events that effect them will give researchers the opportunity to develop and test drugs that could be more targeted to preventing or interrupting attacks entirely. Therapies currently being tested for their effectiveness in treating migraine include magnesium, coenzyme Q10, vitamin B12, riboflavin, fever-few, and butterbur.
In 2010, a team of researchers found a common mutation in the gene TRESK which contains instructions for a certain potassium ion channel. Potassium channels are important for keeping a nerve cell at rest and mutations in them can lead to overactive cells that respond to much lower levels of pain. Large genetic analyses similar to the one used to identify TRESK will most likely lead to the identification of a number of other genes linked to migraine.
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What is (are) Multiple Sclerosis ?
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An unpredictable disease of the central nervous system, multiple sclerosis (MS) can range from relatively benign to somewhat disabling to devastating, as communication between the brain and other parts of the body is disrupted. Many investigators believe MS to be an autoimmune disease -- one in which the body, through its immune system, launches a defensive attack against its own tissues. In the case of MS, it is the nerve-insulating myelin that comes under assault. Such assaults may be linked to an unknown environmental trigger, perhaps a virus.
Most people experience their first symptoms of MS between the ages of 20 and 40; the initial symptom of MS is often blurred or double vision, red-green color distortion, or even blindness in one eye. Most MS patients experience muscle weakness in their extremities and difficulty with coordination and balance. These symptoms may be severe enough to impair walking or even standing. In the worst cases, MS can produce partial or complete paralysis. Most people with MS also exhibit paresthesias, transitory abnormal sensory feelings such as numbness, prickling, or "pins and needles" sensations. Some may also experience pain. Speech impediments, tremors, and dizziness are other frequent complaints. Occasionally, people with MS have hearing loss. Approximately half of all people with MS experience cognitive impairments such as difficulties with concentration, attention, memory, and poor judgment, but such symptoms are usually mild and are frequently overlooked. Depression is another common feature of MS.
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What are the treatments for Multiple Sclerosis ?
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There is as yet no cure for MS. Many patients do well with no therapy at all, especially since many medications have serious side effects and some carry significant risks. However, three forms of beta interferon (Avonex, Betaseron, and Rebif) have now been approved by the Food and Drug Administration for treatment of relapsing-remitting MS. Beta interferon has been shown to reduce the number of exacerbations and may slow the progression of physical disability. When attacks do occur, they tend to be shorter and less severe. The FDA also has approved a synthetic form of myelin basic protein, called copolymer I (Copaxone), for the treatment of relapsing-remitting MS. Copolymer I has few side effects, and studies indicate that the agent can reduce the relapse rate by almost one third. Other FDA approved drugs to treat relapsing forms of MS in adults include teriflunomide and dimethyl fumarate. An immunosuppressant treatment, Novantrone (mitoxantrone), isapproved by the FDA for the treatment of advanced or chronic MS. The FDA has also approved dalfampridine (Ampyra) to improve walking in individuals with MS.
One monoclonal antibody, natalizumab (Tysabri), was shown in clinical trials to significantly reduce the frequency of attacks in people with relapsing forms of MS and was approved for marketing by the U.S. Food and Drug Administration (FDA) in 2004. However, in 2005 the drugs manufacturer voluntarily suspended marketing of the drug after several reports of significant adverse events. In 2006, the FDA again approved sale of the drug for MS but under strict treatment guidelines involving infusion centers where patients can be monitored by specially trained physicians.
While steroids do not affect the course of MS over time, they can reduce the duration and severity of attacks in some patients. Spasticity, which can occur either as a sustained stiffness caused by increased muscle tone or as spasms that come and go, is usually treated with muscle relaxants and tranquilizers such as baclofen, tizanidine, diazepam, clonazepam, and dantrolene. Physical therapy and exercise can help preserve remaining function, and patients may find that various aids -- such as foot braces, canes, and walkers -- can help them remain independent and mobile. Avoiding excessive activity and avoiding heat are probably the most important measures patients can take to counter physiological fatigue. If psychological symptoms of fatigue such as depression or apathy are evident, antidepressant medications may help. Other drugs that may reduce fatigue in some, but not all, patients include amantadine (Symmetrel), pemoline (Cylert), and the still-experimental drug aminopyridine. Although improvement of optic symptoms usually occurs even without treatment, a short course of treatment with intravenous methylprednisolone (Solu-Medrol) followed by treatment with oral steroids is sometimes used.
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What is the outlook for Multiple Sclerosis ?
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A physician may diagnose MS in some patients soon after the onset of the illness. In others, however, doctors may not be able to readily identify the cause of the symptoms, leading to years of uncertainty and multiple diagnoses punctuated by baffling symptoms that mysteriously wax and wane. The vast majority of patients are mildly affected, but in the worst cases, MS can render a person unable to write, speak, or walk. MS is a disease with a natural tendency to remit spontaneously, for which there is no universally effective treatment.
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what research (or clinical trials) is being done for Multiple Sclerosis ?
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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 in laboratories at the NIH and also support additional research through grants to major medical institutions across the country. Scientists continue their extensive efforts to create new and better therapies for MS. One of the most promising MS research areas involves naturally occurring antiviral proteins known as interferons. Beta interferon has been shown to reduce the number of exacerbations and may slow the progression of physical disability. When attacks do occur, they tend to be shorter and less severe. In addition, there are a number of treatments under investigation that may curtail attacks or improve function. Over a dozen clinical trials testing potential therapies are underway, and additional new treatments are being devised and tested in animal models.
In 2001, the National Academies/Institute of Medicine, a Federal technical and scientific advisory agency, prepared a strategic review of MS research. To read or download the National Academies/Institute of Medicine report, go to: "Multiple Sclerosis: Current Status and Strategies for the Future."
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What is (are) Transmissible Spongiform Encephalopathies ?
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Transmissible spongiform encephalopathies (TSEs), also known as prion diseases, are a group of rare degenerative brain disorders characterized by tiny holes that give the brain a "spongy" appearance. These holes can be seen when brain tissue is viewed under a microscope.
Creutzfeldt-Jakob disease (CJD) is the most well-known of the human TSEs. It is a rare type of dementia that affects about one in every one million people each year. Other human TSEs include kuru, fatal familial insomnia (FFI), and Gerstmann-Straussler-Scheinker disease (GSS). Kuru was identified in people of an isolated tribe in Papua New Guinea and has now almost disappeared. FFI and GSS are extremely rare hereditary diseases, found in just a few families around the world. A new type of CJD, called variant CJD (vCJD), was first described in 1996 and has been found in Great Britain and several other European countries. The initial symptoms of vCJD are different from those of classic CJD and the disorder typically occurs in younger patients. Research suggests that vCJD may have resulted from human consumption of beef from cattle with a TSE disease called bovine spongiform encephalopathy (BSE), also known as "mad cow disease." Other TSEs found in animals include scrapie, which affects sheep and goats; chronic wasting disease, which affects elk and deer; and transmissible mink encephalopathy. In a few rare cases, TSEs have occurred in other mammals such as zoo animals. These cases are probably caused by contaminated feed. CJD and other TSEs also can be transmitted experimentally to mice and other animals in the laboratory.
Research suggests that TSEs are caused by an abnormal version of a protein called a prion (prion is short for proteinaceous infectious particle). Prion proteins occur in both a normal form, which is a harmless protein found in the body's cells, and in an infectious form, which causes disease. The harmless and infectious forms of the prion protein are nearly identical, but the infectious form takes on a different folded shape from the normal protein.
Human TSEs can occur three ways: sporadically; as hereditary diseases; or through transmission from infected individuals. Sporadic TSEs may develop because some of a person's normal prions spontaneously change into the infectious form of the protein and then alter the prions in other cells in a chain reaction. Inherited cases arise from a change, or mutation, in the prion protein gene that causes the prions to be shaped in an abnormal way. This genetic change may be transmitted to an individual's offspring. Transmission of TSEs from infected individuals is relatively rare. TSEs cannot be transmitted through the air or through touching or most other forms of casual contact. However, they may be transmitted through contact with infected tissue, body fluids, or contaminated medical instruments. Normal sterilization procedures such as boiling or irradiating materials do not prevent transmission of TSEs.
Symptoms of TSEs vary, but they commonly include personality changes, psychiatric problems such as depression, lack of coordination, and/or an unsteady gait. Patients also may experience involuntary jerking movements called myoclonus, unusual sensations, insomnia, confusion, or memory problems. In the later stages of the disease, patients have severe mental impairment and lose the ability to move or speak.
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What are the treatments for Transmissible Spongiform Encephalopathies ?
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TSEs tend to progress rapidly and usually culminate in death over the course of a few months to a few years.
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What is the outlook for Transmissible Spongiform Encephalopathies ?
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There is currently no treatment that can halt progression of any of the TSEs. Treatment is aimed at alleviating symptoms and making the patient as comfortable as possible. A clinical trial of a potential therapy for CJD is expected to begin soon at the University of California at San Francisco.
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what research (or clinical trials) is being done for Transmissible Spongiform Encephalopathies ?
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The NINDS conducts and supports research on TSEs. This research is aimed at determining how abnormal prion proteins lead to disease, at finding better tests for diagnosing CJD and other disorders, and ultimately at finding ways to treat TSEs.
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What is (are) Progressive Multifocal Leukoencephalopathy ?
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Progressive multifocal leukoencephalopathy (PML) is a disease of the white matter of the brain, caused by a virus infection that targets cells that make myelin--the material that insulates nerve cells (neurons). Polyomavirus JC (often called JC virus) is carried by a majority of people and is harmless except among those with lowered immune defenses. The disease is rare and occurs in patients undergoing chronic corticosteroid or immunosuppressive therapy for organ transplant, or individuals with cancer (such as Hodgkins disease or lymphoma). Individuals with autoimmune conditions such as multiple sclerosis, rheumatoid arthritis, and systemic lupus erythematosis -- some of whom are treated with biological therapies that allow JC virus reactivation -- are at risk for PML as well. PML is most common among individuals with HIV-1 infection / acquired immune deficiency syndrome (AIDS). Studies estimate that prior to effective antiretroviral therapy, as many as 5 percent of persons infected with HIV-1 eventually develop PML that is an AIDS-defining illness. However, current HIV therapy using antiretroviral drugs (ART), which effectively restores immune system function, allows as many as half of all HIV-PML patients to survive, although they may sometimes have an inflammatory reaction in the regions of the brain affected by PML. The symptoms of PML are diverse, since they are related to the location and amount of damage in the brain, and may evolve over the course of several weeks to months The most prominent symptoms are clumsiness; progressive weakness; and visual, speech, and sometimes personality changes. The progression of deficits leads to life-threatening disability and (frequently) death. A diagnosis of PML can be made following brain biopsy or by combining observations of a progressive course of the disease, consistent white matter lesions visible on a magnetic resonance imaging (MRI) scan, and the detection of the JC virus in spinal fluid.
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What are the treatments for Progressive Multifocal Leukoencephalopathy ?
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Currently, the best available therapy is reversal of the immune-deficient state, since there are no effective drugs that block virus infection without toxicity. Reversal may be achieved by using plasma exchange to accelerate the removal of the therapeutic agents that put patients at risk for PML. In the case of HIV-associated PML, immediately beginning anti-retroviral therapy will benefit most individuals. Several new drugs that laboratory tests found effective against infection are being used in PML patients with special permission of the U.S. Food and Drug Administration. Hexadecyloxypropyl-Cidofovir (CMX001) is currently being studied as a treatment option for JVC because of its ability to suppress JVC by inhibiting viral DNA replication.
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