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What is the outlook for Progressive Multifocal Leukoencephalopathy ?
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In general, PML has a mortality rate of 30-50 percent in the first few months following diagnosis but depends on the severity of the underlying disease and treatment received. Those who survive PML can be left with severe neurological disabilities.
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what research (or clinical trials) is being done for Progressive Multifocal Leukoencephalopathy ?
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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 PML in laboratories at the NIH, and support additional research through grants to majorresearch institutions across the country. Much of this research focuses on finding better ways to prevent, treat, and ultimately cure disorders such as PML.
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What is (are) Gaucher Disease ?
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Gaucher disease is one of the inherited metabolic disorders known as lipid storage diseases. Lipids are fatty materials that include oils, fatty acids, waxes, and steroids (such as cholesterol and estrogen). Gaucher disease is caused by a deficiency of the enzyme glucocerebrosidase. Fatty materials can accumulate in the brain, spleen, liver, lungs, bone marrow, and kidneys. Symptoms may begin in early life or adulthood and include skeletal disorders and bone lesions that may cause pain and fractures, enlarged spleen and liver, liver malfunction, anemia, and yellow spots in the eyes. There are three common clinical subtypes of Gaucher disease. The first category, called type 1 (or nonneuropathic), typically does not affect the brain. Symptoms may begin early in life or in adulthood. People in this group usually bruise easily due to low blood platelets and experience fatigue due to anemia They also may have an enlarged liver and spleen. Many individuals with a mild form of the disorder may not show any symptoms. In type 2 Gaucher disease (acute infantile neuropathic Gaucher disease), symptoms usually begin by 3 months of age and include extensive brain damage, seizures, spasticity, poor ability to suck and swallow, and enlarged liver and spleen. Affecetd children usually die before 2 years of age. In the third category, called type 3 (or chronic neuropathic Gaucher disease), signs of brain involvement such as seizures gradually become apparent. Major symptoms also include skeletal irregularities, eye movement disorders, cognitive deficit, poor coordination, enlarged liver and spleen, respiratory problems, and blood disorders.
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What are the treatments for Gaucher Disease ?
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Enzyme replacement therapy is available for most people with types 1 and 3 Gaucher disease. Given intravenously every two weeks, this therapy decreases liver and spleen size, reduces skeletal abnormalities, and reverses other symptoms of the disorder. The U.S. Food and Drug Administration has approved eligustat tartrate for Gaucher treatment, which works by administering small molecules that reduce the action of the enzyme that catalyzes glucose to ceramide. Surgery to remove the whole or part of the spleen may be required on rare occasions, and blood transfusions may benefit some anemic individuals. Other individuals may require joint replacement surgery to improve mobility and quality of life. There is no effective treatment for severe brain damage that may occur in persons with types 2 and 3 Gaucher disease.
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What is the outlook for Gaucher Disease ?
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Enzyme replacement therapy is very beneficial for type 1 and most type 3 individuals with this condition. Successful bone marrow transplantation can reverse the non-neurological effects of the disease, but the procedure carries a high risk and is rarely performed in individuals with Gaucher disease.
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what research (or clinical trials) is being done for Gaucher Disease ?
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The mission of the National Institute of Neurological Disorders and Stroke (NINDS), a part of the National Institutes of Health), is to seek fundamental knowledge about the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. The NINDS supports research to find ways to treat and prevent lipid storage disorders such as Gaucher disease. For example, researchers hope to identify biomarkers (signs that may indicate risk of a disease and improve diagnosis) for Gaucher disease and other lipid storage diseases; and identify genetic, biochemical, and clinical factors that are associated with disease severity in individuals with Gaucher disease.Additional research is looking at the increased buildup of the protein alpha-synuclein, which is seen in Gaucher disease, Parkinson's disease, and Lewy Body Dementia. Using different models of glucoserebrosidase deficiency, scientists hope to learn how this deficiency impairs the breakdown of lysosomal proteins, including the breakdown of alpha-synuclein.
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What is (are) Aicardi Syndrome ?
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Aicardi syndrome is a rare genetic disorder that primarily affects newborn girls. The condition is sporadic, meaning it is not known to pass from parent to child. (An exception is a report of two sisters and a pair of identical twins, all of whom were affected.) The mutation that causes Aicardi syndrome has not been identified, but it is thought to be caused by a dominant mutation that appears for the first time in a family in an x-linked gene that may be lethal in certain males.. Aicardi syndrome can be seen in boys born with an extra "X" chromosome. (Females have two X chromosomes, while males normally have an X and a Y chromosome.) The precise gene or genetic mechanism causing Aicardi syndrome is not yet known.
Originally, Aicardi syndrome was characterized by three main features: 1) partial or complete absence of the structure (corpus callosum) that links the two halves of the brain (2) infantile spasms (a type of seizure disorder), and 3) chorioretinal lacunae, lesions on the retina that look like yellowish spots. However, Aicardi syndrome is now known to have a much broader spectrum of abnormalities than was initially described. Not all girls with the condition have the three features described above and many girls have additional feature such as lower tone around the head and trunk, microcephaly (small head circumference), and spasticity in the limbs.
Typical findings in the brain of girls with Aicardi syndrome include heterotopias, which are groups of brain cells that, during development, migrated to the wrong area of brain; polymicrogyria or pachygyria, which are numerous small, or too few, brain folds; and cysts, (fluid filled cavities) in the brain. Girls with Aicardi syndrome have varying degrees of intellectual disability and developmental delay. Many girls also have developmental abnormalities of their optic nerves and some have microphthalmia (small eyes). Skeletal problems such as absent or abnormal ribs and abnormalities of vertebrae in the spinal column (including hemivertebrae and butterfly vertebrae) have also been reported. Some girls also have skin problems, facial asymmetry, small hands, and an increased incidence of tumors.
(Aicardi syndrome is distinct from Aicardi-Goutieres syndrome, which is an inherited encephalopathy that affects newborn infants.)
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What are the treatments for Aicardi Syndrome ?
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There is no cure for Aicardi syndrome nor is there a standard course of treatment. Treatment generally involves medical management of seizures and programs to help parents and children cope with developmental delays. Long-term management by a pediatric neurologist with expertise in the management of infantile spasms is recommended.
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What is the outlook for Aicardi Syndrome ?
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The prognosis for girls with Aicardi syndrome varies according to the severity of their symptoms. There is an increased risk for death in childhood and adolescence, but survivors into adulthood have been described.
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what research (or clinical trials) is being done for Aicardi Syndrome ?
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The NINDS supports and conducts research on neurogenetic disorders such as Aicardi syndrome. The goals of this research are to locate and understand the genes involved and to develop techniques to diagnose, treat, prevent, and ultimately cure disorders such as Aicardi syndrome.
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What is (are) Inflammatory Myopathies ?
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The inflammatory myopathies are a group of diseases, with no known cause, that involve chronic muscle inflammation accompanied by muscle weakness. The three main types of chronic, or persistent, inflammatory myopathy are polymyositis, dermatomyositis, and inclusion body myositis (IBM). These rare disorders may affect both adults and children, although dermatomyositis is more common in children. Polymyositis and dermatomyositis are more common in women than in men. General symptoms of chronic inflammatory myopathy include slow but progressive muscle weakness that starts in the proximal musclesthose muscles closest to the trunk of the body. Other symptoms include fatigue after walking or standing, tripping or falling, and difficulty swallowing or breathing. Some patients may have slight muscle pain or muscles that are tender to the touch. Polymyositis affects skeletal muscles (involved with making movement) on both sides of the body. Dermatomyositis is characterized by a skin rash that precedes or accompanies progressive muscle weakness. IBM is characterized by progressive muscle weakness and wasting. Juvenile myositis has some similarities to adult dermatomyositis and polymyositis.
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What are the treatments for Inflammatory Myopathies ?
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The chronic inflammatory myopathies cant be cured in most adults but many of the symptoms can be treated. Options include medication, physical therapy, exercise, heat therapy (including microwave and ultrasound), orthotics and assistive devices, and rest. Polymyositis and dermatomyositis are first treated with high doses of prednisone or another corticosteroid drug. This is most often given as an oral medication but can be delivered intravenously. Immunosuppressant drugs, such as azathioprine and methotrexate, may reduce inflammation in people who do not respond well to prednisone. IBM has no standard course of treatment. The disease is generally unresponsive to corticosteroids and immunosuppressive drugs.
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What is the outlook for Inflammatory Myopathies ?
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Most cases of dermatomyositis respond to therapy. The prognosis for polymyositis varies. Most individuals respond fairly well to therapy, but some people have a more severe disease that does not respond adequately to therapies and are left with significant disability. IBM is generally resistant to all therapies and its rate of progression appears to be unaffected by currently available treatments.
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what research (or clinical trials) is being done for Inflammatory Myopathies ?
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The National Institutes of Health (NIH), through the collaborative efforts of its National Institute of Neurological Disorders and Stroke (NINDS), National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), and National Institute of Environmental Health Sciences (NIEHS), conducts and supports a wide range of research on neuromuscular disorders, including the inflammatory myopathies. The NINDS and NIAMS are funding DNA analyses using microarrays to characterize patterns of muscle gene expression among adult and juvenile individuals with distinct subtypes of inflammatory myopathies. Findings will be used to refine disease classification and provide clues to the pathology of these disorders. Other NIH-funded research is studying prior viral infection as a precursor to inflammatory myopathy. Other research hopes to determine whether the drug infliximab, which blocks a protein that is associated with harmful inflammation, is safe and effective in treating dermatomyositis and polymyositis.
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What is (are) Creutzfeldt-Jakob Disease ?
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Creutzfeldt-Jakob disease (CJD) is a rare, degenerative,fatal brain disorder. Typically, onset of symptoms occurs at about age 60. There are three major categories of CJD: sporadic (the most common form, in which people do not have any risk factors for the disease); hereditary (in which the person has a family member with the disease and tests positive for a genetic mutation), and acquired (in which the disease is transmitted by exposure to brain and nervous system tissue, usually through certain medical procedures. A form called variant CJD can be acquired by eating meat from cattle affected by a disease similar to CJD, called bovine spongiform encephalopathy (commonly called mad cow disease). Symptoms of CJD include problems with muscular coordination, personality changes including progressive and severe mental impairment, impaired vision that may lead to blindness, and involuntary muscle jerks called myoclonus. People eventually lose the ability to move and speak and enter a coma. Tests that help in the diagnosis of CJD include electroencephalography (which measures brain waves), detection of certain proteins in the fluid that surrounds the brain and spinal cord, and magnetic resonance imaging.. The first concern is to rule out treatable forms of dementia such as encephalitis or chronic meningitis. The only way to confirm a diagnosis of CJD is by brain biopsy or autopsy. In a brain biopsy, a neurosurgeon removes a small piece of tissue from the person's brain so that it can be examined by a neurologist. Because a correct diagnosis of CJD does not help the individual, a brain biopsy is discouraged unless it is need to rule out a treatable disorder. .
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What are the treatments for Creutzfeldt-Jakob Disease ?
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There is no treatment that can cure or control CJD, although studies of a variety of drugs are now in progress. Current treatment is aimed at alleviating symptoms and making the person as comfortable as possible. Opiate drugs can help relieve pain, and the drugs clonazepam and sodium valproate may help relieve involuntary muscle jerks.Intravenous fluids and artificial feeding may be needed in later stages of the disease.
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What is the outlook for Creutzfeldt-Jakob Disease ?
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About 70 percent of individuals die within one year. In the early stages of disease, people may have failing memory, behavioral changes, lack of coordination and visual disturbances. As the illness progresses, mental deterioration becomes pronounced and involuntary movements, blindness, weakness of extremities, and coma may occur.
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what research (or clinical trials) is being done for Creutzfeldt-Jakob Disease ?
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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 leading scientific theory at this time maintains that CJD is caused by a type of protein called a prion. The harmless and the infectious forms of the prion protein are nearly identical, but the infectious form takes a different folded shape than the normal protein. Researchers are trying to discover factors that influence prion infectivity and how the disorder damages the brain. Using rodent models of the disease and brain tissue from autopsies, researchers are also trying to develop improved diagnostic tests for CJD and to learn what changes ultimately kill the neurons so that effective treatments can be developed.
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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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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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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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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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What is (are) Dystonias ?
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The dystonias are movement disorders in which sustained muscle contractions cause twisting and repetitive movements or abnormal postures. The movements, which are involuntary and sometimes painful, may affect a single muscle; a group of muscles such as those in the arms, legs, or neck; or the entire body. Early symptoms may include deterioration in handwriting, foot cramps, or a dragging foot after running or walking some distance. Other possible symptoms are tremor and voice or speech difficulties. About half the cases of dystonia have no connection to disease or injury and are called primary or idiopathic dystonia. Of the primary dystonias, many cases appear to be inherited. Dystonias can also be symptoms of other diseases, some of which may be hereditary. Dystonia can occur at any age, but is often described as either early, or childhood, onset versus adult onset.
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What are the treatments for Dystonias ?
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No one treatment has been found to be universally effective. Instead, doctors use a variety of therapies (medications, surgery, and other treatments such as physical therapy, splinting, stress management, and biofeedback) aimed at reducing or eliminating muscle spasms and pain. Since response to drugs varies among individuals and even in the same person over time, the most effective therapy is often individualized.
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What is the outlook for Dystonias ?
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The initial symptoms can be very mild and may be noticeable only after prolonged exertion, stress, or fatigue. Dystonias often progress through various stages. Initially, dystonic movements are intermittent and appear only during voluntary movements or stress. Later, individuals may show dystonic postures and movements while walking and ultimately even while they are relaxed. Dystonic motions may lead to permanent physical deformities by causing tendons to shorten.
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what research (or clinical trials) is being done for Dystonias ?
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The National Institute of Neurological Disorders and Stroke (NINDS) conducts research related to dystonia in its laboratories at the National Institutes of Health (NIH) and also supports additional dystonia research through grants to major research institutions across the country. Scientists at other NIH Institutes (National institute on Deafness and Other Communications Disorders, National Eye Institute, and Eunice Kennnedy Shriver National Institute on Child Health and Human Development) also support research that may benefit individuals with dystonia. Investigators believe that the dystonias result from an abnormality in an area of the brain called the basal ganglia, where some of the messages that initiate muscle contractions are processed. Scientists at the NINDS laboratories have conducted detailed investigations of the pattern of muscle activity in persons with dystonias. Studies using EEG analysis and neuroimaging are probing brain activity. The search for the gene or genes responsible for some forms of dominantly inherited dystonias continues.
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What is (are) Neuronal Migration Disorders ?
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Neuronal migration disorders (NMDs) are a group of birth defects caused by the abnormal migration of neurons in the developing brain and nervous system. In the developing brain, neurons must migrate from the areas where they are born to the areas where they will settle into their proper neural circuits. Neuronal migration, which occurs as early as the second month of gestation, is controlled by a complex assortment of chemical guides and signals. When these signals are absent or incorrect, neurons do not end up where they belong. This can result in structurally abnormal or missing areas of the brain in the cerebral hemispheres, cerebellum, brainstem, or hippocampus. The structural abnormalities found in NMDs include schizencephaly, porencephaly, lissencephaly, agyria, macrogyria, polymicrogyria, pachygyria, microgyria, micropolygyria, neuronal heterotopias (including band heterotopia), agenesis of the corpus callosum, and agenesis of the cranial nerves. Symptoms vary according to the abnormality, but often feature poor muscle tone and motor function, seizures, developmental delays, impaired cognitive development, failure to grow and thrive, difficulties with feeding, swelling in the extremities, and a smaller than normal head. Most infants with an NMD appear normal, but some disorders have characteristic facial or skull features that can be recognized by a neurologist. Several genetic abnormalities in children with NMDs have been identified. Defects in genes that are involved in neuronal migration have been associated with NMDs, but the role they play in the development of these disorders is not yet well-understood. More than 25 syndromes resulting from abnormal neuronal migration have been described. Among them are syndromes with several different patterns of inheritance; genetic counseling thus differs greatly between syndromes.
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What are the treatments for Neuronal Migration Disorders ?
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Treatment is symptomatic, and may include anti-seizure medication and special or supplemental education consisting of physical, occupational, and speech therapies.
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What is the outlook for Neuronal Migration Disorders ?
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The prognosis for children with NMDs varies depending on the specific disorder and the degree of brain abnormality and subsequent neurological signs and symptoms.
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what research (or clinical trials) is being done for Neuronal Migration Disorders ?
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The NINDS conducts and supports a wide range of studies that explore the complex systems of brain development. These studies include the identification of the mechanism of action of the known causes of NMD as well as studies to identify further causes of disease. NIH-funded researchers work closely with parental support groups to bring research discoveries directly to patients. The knowledge gained from these studies provides the foundation for understanding abnormal development and offers hope for new ways to treat and prevent NMDs.
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What is (are) Gerstmann's Syndrome ?
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Gerstmann's syndrome is a cognitive impairment that results from damage to a specific area of the brain -- the left parietal lobe in the region of the angular gyrus. It may occur after a stroke or in association with damage to the parietal lobe. It is characterized by four primary symptoms: a writing disability (agraphia or dysgraphia), a lack of understanding of the rules for calculation or arithmetic (acalculia or dyscalculia), an inability to distinguish right from left, and an inability to identify fingers (finger agnosia). The disorder should not be confused with Gerstmann-Strussler-Scheinker disease, a type of transmissible spongiform encephalopathy.
In addition to exhibiting the above symptoms, many adults also experience aphasia, (difficulty in expressing oneself when speaking, in understanding speech, or in reading and writing).
There are few reports of the syndrome, sometimes called developmental Gerstmann's syndrome, in children. The cause is not known. Most cases are identified when children reach school age, a time when they are challenged with writing and math exercises. Generally, children with the disorder exhibit poor handwriting and spelling skills, and difficulty with math functions, including adding, subtracting, multiplying, and dividing. An inability to differentiate right from left and to discriminate among individual fingers may also be apparent. In addition to the four primary symptoms, many children also suffer from constructional apraxia, an inability to copy simple drawings. Frequently, there is also an impairment in reading. Children with a high level of intellectual functioning as well as those with brain damage may be affected with the disorder.
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What are the treatments for Gerstmann's Syndrome ?
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There is no cure for Gerstmann's syndrome. Treatment is symptomatic and supportive. Occupational and speech therapies may help diminish the dysgraphia and apraxia. In addition, calculators and word processors may help school children cope with the symptoms of the disorder.
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What is the outlook for Gerstmann's Syndrome ?
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In adults, many of the symptoms diminish over time. Although it has been suggested that in children symptoms may diminish over time, it appears likely that most children probably do not overcome their deficits, but learn to adjust to them.
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what research (or clinical trials) is being done for Gerstmann's Syndrome ?
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The NINDS supports research on disorders that result from damage to the brain such as dysgraphia. The NINDS and other components of the National Institutes of Health also support research on learning disabilities. Current research avenues focus on developing techniques to diagnose and treat learning disabilities and increase understanding of the biological basis of them.
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What is (are) Absence of the Septum Pellucidum ?
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The septum pellucidum (SP) is a thin membrane located at the midline of the brain between the two cerebral hemispheres, or halves of the brain.. It is connected to the corpus callosum -- a collection of nerve fibers that connect the cerebral hemispherers. This rare abnormality accompanies various malformations of the brain that affect intelligence, behavior, and the neurodevelopmental process, and seizures may occur. Children who are born without this membrane and also have other abnormalities--pituitary deficiencies and abnormal development of the optic disk--have a disorder known as septo-optic dysplasia. More information about this condition can be located at the NINDS Septo-Optic Dysplasia Information Page.
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What are the treatments for Absence of the Septum Pellucidum ?
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Absence of the SP alone is not a disorder but is instead a characteristic noted in children with septo-optic dysplasia or other developmental anomalies.
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What is the outlook for Absence of the Septum Pellucidum ?
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When the absence of the septum pellucidum is part of septo-optic dysplasia, the prognosis varies according to the presence and severity of associated symptoms. By itself, absence of the septum pellucidum is not life-threatening.
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what research (or clinical trials) is being done for Absence of the Septum Pellucidum ?
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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 ad to use that knowledge to reduce the burden of neurological disease. 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 developmental brain disorders.
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What is (are) Cerebral Hypoxia ?
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Cerebral hypoxia refers to a condition in which there is a decrease of oxygen supply to the brain even though there is adequate blood flow. Drowning, strangling, choking, suffocation, cardiac arrest, head trauma, carbon monoxide poisoning, and complications of general anesthesia can create conditions that can lead to cerebral hypoxia. Symptoms of mild cerebral hypoxia include inattentiveness, poor judgment, memory loss, and a decrease in motor coordination. Brain cells are extremely sensitive to oxygen deprivation and can begin to die within five minutes after oxygen supply has been cut off. When hypoxia lasts for longer periods of time, it can cause coma, seizures, and even brain death. In brain death, there is no measurable activity in the brain, although cardiovascular function is preserved. Life support is required for respiration.
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What are the treatments for Cerebral Hypoxia ?
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Treatment depends on the underlying cause of the hypoxia, but basic life-support systems have to be put in place: mechanical ventilation to secure the airway; fluids, blood products, or medications to support blood pressure and heart rate; and medications to suppress seizures.
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What is the outlook for Cerebral Hypoxia ?
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Recovery depends on how long the brain has been deprived of oxygen and how much brain damage has occurred, although carbon monoxide poisoning can cause brain damage days to weeks after the event. Most people who make a full recovery have only been briefly unconscious. The longer someone is unconscious, the higher the chances of death or brain death and the lower the chances of a meaningful recovery. During recovery, psychological and neurological abnormalities such as amnesia, personality regression, hallucinations, memory loss, and muscle spasms and twitches may appear, persist, and then resolve.
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what research (or clinical trials) is being done for Cerebral Hypoxia ?
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The NINDS supports and conducts studies aimed at understanding neurological conditions that can damage the brain, such as cerebral hypoxia. The goals of these studies are to find ways to prevent and treat these conditions.
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What is (are) Cerebral Palsy ?
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The term cerebral palsy refers to a group of neurological disorders that appear in infancy or early childhood and permanently affect body movement, muscle coordination, and balance.CP affects the part of the brain that controls muscle movements. The majority of children with cerebral palsy are born with it, although it may not be detected until months or years later.The early signs of cerebral palsy usually appear before a child reaches 3 years of age.The most common are a lack of muscle coordination when performing voluntary movements (ataxia); stiff or tight muscles and exaggerated reflexes (spasticity); walking with one foot or leg dragging; walking on the toes, a crouched gait, or a scissored gait; and muscle tone that is either too stiff or too floppy.Other neurological symptoms that commonly occur in individuals with CP include seizures, hearing loss and impaired vision, bladder and bowel control issues, and pain and abnormal sensations. A small number of children have CP as the result of brain damage in the first few months or years of life, brain infections such as bacterial meningitis or viral encephalitis, or head injury from a motor vehicle accident, a fall, or child abuse. The disorder isn't progressive, meaning that the brain damage typically doesn't get worse over time. Risk factors associated with CP do not cause the disorder but can increase a child's chance of being born with the disorder.CP is not hereditary.
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What are the treatments for Cerebral Palsy ?
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Cerebral palsy cant be cured, but treatment will often improve a child's capabilities. In general, the earlier treatment begins the better chance children have of overcoming developmental disabilities or learning new ways to accomplish the tasks that challenge them.Early intervention, supportive treatments, medications, and surgery can help many individuals improve their muscle control. Treatment may include physical and occupational therapy, speech therapy, drugs to control seizures, relax muscle spasms, and alleviate pain; surgery to correct anatomical abnormalities or release tight muscles; braces and other orthotic devices; wheelchairs and rolling walkers; and communication aids such as computers with attached voice synthesizers.
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What is the outlook for Cerebral Palsy ?
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Cerebral palsy doesnt always cause profound disabilities and for most people with CP the disorder does not affect life expectancy. Many children with CP have average to above average intelligence and attend the same schools as other children their age. Supportive treatments, medications, and surgery can help many individuals improve their motor skills and ability to communicate with the world..While one child with CP might not require special assistance, a child with severe CP might be unable to walk and need extensive, lifelong care.
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what research (or clinical trials) is being done for Cerebral Palsy ?
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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. Researchers supported by the NINDS are investigating the roles of mishaps early in brain development, including genetic defects, which are sometimes responsible for the brain malformations and abnormalities that result in cerebral palsy.Scientists are also looking at traumatic events in newborn babies brains, such as bleeding, epileptic seizures, and breathing and circulation problems, which can cause the abnormal release of chemicals that trigger the kind of damage that causes cerebral palsy. NINDS-supported researchers also hope to find ways to prevent white matter disease, the most common cause of cerebral palsy. To make sure children are getting the right kinds of therapies, studies are also being done that evaluate both experimental treatments and treatments already in use so that physicians and parents have valid information to help them choose the best therapy.
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What is (are) Aicardi-Goutieres Syndrome Disorder ?
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Aicardi-Goutieres syndrome (AGS) is an inherited encephalopathy that affects newborn infants and usually results in severe mental and physical handicap. There are two forms of the syndrome: an early-onset form that is severe, and a late-onset form that has less impact upon neurological function. The early-onset form affects about 20 percent of all babies who have AGS. These infants are born with neurological and liver abnormalities, such as enlargement of the liver and spleen and elevated liver enzymes. Their jittery behavior and poor feeding ability mimic congenital viral infection.
Babies with later-onset AGS begin having symptoms after the first weeks or months of normal development, which appear as a progressive decline in head growth, weak or stiffened muscles (spasticity), and cognitive and developmental delays that range from moderate to severe. Symptoms last for several months, and include irritability, inconsolable crying, intermittent fever, seizures, and loss of developmental skills. Children may also have puffy swelling on the fingers, toes, and ears that resemble chilblains. A number of children have a noticeable startle reaction to sudden noise. For babies with the later-onset form, as symptoms lessen, there is no further worsening of the disease.
AGS is difficult to diagnose since many of the symptoms are similar to those of other disorders. Diagnosis is made based on the clinical symptoms of the disease, as well as characteristic brain abnormalities that can be seen in an MRI brain scan. Cerebrospinal fluid (CSF), taken using a "spinal tap," can also be tested for increased levels of a specific immune system cell (a lymphocyte), which indicates a condition known as chronic lymphocytosis. These cells are normally only elevated during infection, so that lymphocytosis without evidence of infection can be used as an indicator of AGS. CSF may also be tested for elevated levels of a substance known as interferon-gamma, which can also support a diagnosis of AGS.
The mutations of four different genes are associated with AGS:
- Aicardi-Goutieres syndrome-1 (AGS1) and AGS5 (an autosomal dominant form) are caused by a mutation in the TREX1 gene, - AGS2 is caused by a mutation in the RNASEH2B gene, - AGS3 is caused by a mutation in the RNASEH2C gene, - AGS4 is caused by a mutation in the RNASEH2A gene.
Most cases of AGS are inherited in an autosomal recessive manner, which means that both parents of a child with AGS must carry a single copy of the defective gene responsible for the disease. Parents do not have any symptoms of disease, but with every child they have together, there is a one in four chance that the baby will receive two copies of the defective gene and inherit AGS.
NOTE: AGS is distinct from the similarly named Aicardi syndrome (characterized by absence of a brain structure (corpus callosum), and spinal, skeletal, and eye abnormalities).
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What are the treatments for Aicardi-Goutieres Syndrome Disorder ?
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Depending upon the severity of symptoms, children may require chest physiotherapy and treatment for respiratory complications. To ensure adequate nutrition and caloric intake, some infants may require special accommodations for diet and feeding. Seizures may be managed with standard anticonvulsant medications. Children should be monitored for evidence of glaucoma in the first few months of life, and later for evidence of scoliosis, diabetes, and underactive thyroid.The prognosis depends upon the severity of symptoms.
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What is the outlook for Aicardi-Goutieres Syndrome Disorder ?
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The prognosis depends upon the severity of symptoms. Children with early-onset AGS have the highest risk of death. Children with the later-onset form may be left with weakness or stiffness in the peripheral muscles and arms, weak muscles in the trunk of the body, and poor head control. Almost all children with AGS have mild to severe intellectual and physical impairment.
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what research (or clinical trials) is being done for Aicardi-Goutieres Syndrome Disorder ?
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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 AGS through grants to major medical institutions across the country. Current research is aimed at finding new methods for treating and ultimately preventing or curing AGS.
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What is (are) Wallenberg's Syndrome ?
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Wallenbergs syndrome is a neurological condition caused by a stroke in the vertebral or posterior inferior cerebellar artery of the brain stem. Symptoms include difficulties with swallowing, hoarseness, dizziness, nausea and vomiting, rapid involuntary movements of the eyes (nystagmus), and problems with balance and gait coordination. Some individuals will experience a lack of pain and temperature sensation on only one side of the face, or a pattern of symptoms on opposite sides of the body such as paralysis or numbness in the right side of the face, with weak or numb limbs on the left side. Uncontrollable hiccups may also occur, and some individuals will lose their sense of taste on one side of the tongue, while preserving taste sensations on the other side. Some people with Wallenbergs syndrome report that the world seems to be tilted in an unsettling way, which makes it difficult to keep their balance when they walk.
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What are the treatments for Wallenberg's Syndrome ?
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Treatment for Wallenberg's syndrome is symptomatic. A feeding tube may be necessary if swallowing is very difficult. Speech/swallowing therapy may be beneficial. In some cases, medication may be used to reduce or eliminate pain. Some doctors report that the anti-epileptic drug gabapentin appears to be an effective medication for individuals with chronic pain.
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What is the outlook for Wallenberg's Syndrome ?
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The outlook for someone with Wallenbergs syndrome depends upon the size and location of the area of the brain stem damaged by the stroke. Some individuals may see a decrease in their symptoms within weeks or months. Others may be left with significant neurological disabilities for years after the initial symptoms appeared.
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what research (or clinical trials) is being done for Wallenberg's Syndrome ?
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The National Institute of Neurological Disorders and Stroke (NINDS) conducts research related to Wallenbergs syndrome in its laboratories at the National Institutes of Health (NIH), and also supports 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 disorders such as Wallenbergs syndrome.
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What is (are) Chorea ?
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Chorea is an abnormal involuntary movement disorder, one of a group of neurological disorders called dyskinesias, which are caused by overactivity of the neurotransmitter dopamine in the areas of the brain that control movement. Chorea is characterized by brief, irregular contractions that are not repetitive or rhythmic, but appear to flow from one muscle to the next. Chorea often occurs with athetosis, which adds twisting and writhing movements. Chorea is a primary feature of Huntington's disease, a progressive, hereditary movement disorder that appears in adults, but it may also occur in a variety of other conditions. Syndenham's chorea occurs in a small percentage (20 percent) of children and adolescents as a complication of rheumatic fever. Chorea can also be induced by drugs (levodopa, anti-convulsants, and anti-psychotics) metabolic and endocrine disorders, and vascular incidents.
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What are the treatments for Chorea ?
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There is no standard course of treatment for chorea. Treatment depends on the type of chorea and the associated disease. Treatment for Huntington's disease is supportive, while treatment for Syndenham's chorea usually involves antibiotic drugs to treat the infection, followed by drug therapy to prevent recurrence. Adjusting medication dosages can treat drug-induced chorea. Metabolic and endocrine-related choreas are treated according to the cause(s) of symptoms.
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What is the outlook for Chorea ?
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The prognosis for individuals with chorea varies depending on the type of chorea and the associated disease. Huntington's disease is a progressive, and ultimately, fatal disease. Syndenham's chorea is treatable and curable.
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what research (or clinical trials) is being done for Chorea ?
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The NINDS supports research on movement disorders such as chorea. The goals of this research are to increase understanding of these disorders and to find ways to prevent and treat them.
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What is (are) Parry-Romberg ?
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Parry-Romberg syndrome is a rare disorder characterized by slowly progressive deterioration (atrophy) of the skin and soft tissues of half of the face (hemifacial atrophy), usually the left side. It is more common in females than in males. Initial facial changes usually involve the tissues above the upper jaw (maxilla) or between the nose and the upper corner of the lip (nasolabial fold) and subsequently progress to the angle of the mouth, areas around the eye, the brow, the ear, and the neck. The deterioration may also affect the tongue, the soft and fleshy part of the roof of the mouth, and the gums. The eye and cheek of the affected side may become sunken and facial hair may turn white and fall out (alopecia). In addition, the skin overlying affected areas may become darkly pigmented (hyperpigmentation) with, in some cases, areas of hyperpigmentation and patches of unpigmented skin (vitiligo). Parry-Romberg syndrome is also accompanied by neurological abnormalities including seizures and episodes of severe facial pain (trigeminal neuralgia). The onset of the disease usually begins between the ages of 5 and 15 years. The progression of the atrophy often lasts from 2 to 10 years, and then the process seems to enter a stable phase. Muscles in the face may atrophy and there may be bone loss in the facial bones. Problems with the retina and optic nerve may occur when the disease surrounds the eye.
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What are the treatments for Parry-Romberg ?
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There is no cure and there are no treatments that can stop the progression of Parry-Romberg syndrome. Reconstructive or microvascular surgery may be needed to repair wasted tissue. The timing of surgical intervention is generally agreed to be the best following exhaustion of the disease course and completion of facial growth. Most surgeons will recommend a waiting period of one or two years before proceeding with reconstruction. Muscle or bone grafts may also be helpful. Other treatment is symptomatic and supportive.
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What is the outlook for Parry-Romberg ?
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The prognosis for individuals with Parry-Romberg syndrome varies. In some cases, the atrophy ends before the entire face is affected. In mild cases, the disorder usually causes no disability other than cosmetic effects.
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what research (or clinical trials) is being done for Parry-Romberg ?
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The NINDS supports research on neurological disorders such as Parry-Romberg syndrome with the goal of finding ways to prevent, treat, and cure them.
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What is (are) Moebius Syndrome ?
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Moebius syndrome is a rare birth defect caused by the absence or underdevelopment of the 6th and 7th cranial nerves, which control eye movements and facial expression. Many of the other cranial nerves may also be affected, including the 3rd, 5th, 8th, 9th, 11th and 12th. The first symptom, present at birth, is an inability to suck. Other symptoms can include: feeding, swallowing, and choking problems; excessive drooling; crossed eyes; lack of facial expression; inability to smile; eye sensitivity; motor delays; high or cleft palate; hearing problems and speech difficulties. Children with Moebius syndrome are unable to move their eyes back and forth. Decreased numbers of muscle fibers have been reported. Deformities of the tongue, jaw, and limbs, such as clubfoot and missing or webbed fingers, may also occur. As children get older, lack of facial expression and inability to smile become the dominant visible symptoms. Approximately 30 to 40 percent of children with Moebius syndrome have some degree of autism.
There are four recognized categories of Moebius syndrome:
- Group I, characterized by small or absent brain stem nuclei that control the cranial nerves; - Group II, characterized by loss and degeneration of neurons in the facial peripheral nerve; - Group III, characterized by loss and degeneration of neurons and other brain cells, microscopic areas of damage, and hardened tissue in the brainstem nuclei, and, - Group IV, characterized by muscular symptoms in spite of a lack of lesions in the cranial nerve.
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What are the treatments for Moebius Syndrome ?
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There is no specific course of treatment for Moebius syndrome. Treatment is supportive and in accordance with symptoms. Infants may require feeding tubes or special bottles to maintain sufficient nutrition. Surgery may correct crossed eyes and improve limb and jaw deformities. Physical and speech therapy often improves motor skills and coordination, and leads to better control of speaking and eating abilities. Plastic reconstructive surgery may be beneficial in some individuals. Nerve and muscle transfers to the corners of the mouth have been performed to provide limited ability to smile.
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What is the outlook for Moebius Syndrome ?
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There is no cure for Moebius syndrome. In spite of the impairments that characterize the disorder, proper care and treatment give many individuals a normal life expectancy.
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what research (or clinical trials) is being done for Moebius Syndrome ?
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The NINDS conducts and supports a broad range of research on neurogenetic disorders, including Moebius syndrome. The goals of these studies are to develop improved techniques to diagnose, treat, and eventually cure these disorders.
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What is (are) Charcot-Marie-Tooth Disease ?
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Charcot-Marie-Tooth disease (CMT) is one of the most common inherited neurological disorders, affecting approximately 1 in 2,500 people in theUnited States. CMT, also known as hereditary motor and sensory neuropathy (HMSN) or peroneal muscular atrophy, comprises a group of disorders caused by mutations in genes that affect the normal function of the peripheral nerves. The peripheral nerves lie outside the brain and spinal cord and supply the muscles and sensory organs in the limbs. A typical feature includes weakness of the foot and lower leg muscles, which may result in foot drop and a high-stepped gait with frequent tripping or falling. Foot deformities, such as high arches and hammertoes (a condition in which the middle joint of a toe bends upwards), are also characteristic due to weakness of the small muscles in the feet. In addition, the lower legs may take on an "inverted champagne bottle" appearance due to the loss of muscle bulk. Later in the disease, weakness and muscle atrophy may occur in the hands, resulting in difficulty with fine motor skills. Some individuals experience pain, which can range from mild to severe.
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What are the treatments for Charcot-Marie-Tooth Disease ?
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There is no cure for CMT, but physical therapy, occupational therapy, braces and other orthopedic devices, and orthopedic surgery can help people cope with the disabling symptoms of the disease. In addition, pain-killing drugs can be prescribed for patients who have severe pain.
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What is the outlook for Charcot-Marie-Tooth Disease ?
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Onset of symptoms of CMT is most often in adolescence or early adulthood, however presentation may be delayed until mid-adulthood. Progression of symptoms is very gradual. The degeneration of motor nerves results in muscle weakness and atrophy in the extremities (arms, legs, hands, or feet), and the degeneration of sensory nerves results in a reduced ability to feel heat, cold, and pain. There are many forms of CMT disease. The severity of symptoms may vary greatly among individuals and some people may never realize they have the disorder. CMT is not fatal and people with most forms of CMT have a normal life expectancy.
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what research (or clinical trials) is being done for Charcot-Marie-Tooth Disease ?
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The National Institute of Neurological Disorders and Stroke (NINDS) conducts CMT research in its laboratories at the National Institutes of Health (NIH) and also supports CMT research through grants to major medical institutions across the country. Ongoing research includes efforts to identify more of the mutant genes and proteins that cause the various disease subtypes. This research includes studies in the laboratory to discover the mechanisms of nerve degeneration and muscle atrophy, and clinical studies to find therapies to slow down or even reverse nerve degeneration and muscle atrophy.
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What is (are) Alzheimer's Disease ?
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Alzheimer's disease (AD) is an age-related, non-reversible brain disorder that develops over a period of years. Initially, people experience memory loss and confusion, which may be mistaken for the kinds of memory changes that are sometimes associated with normal aging. However, the symptoms of AD gradually lead to behavior and personality changes, a decline in cognitive abilities such as decision-making and language skills, and problems recognizing family and friends. AD ultimately leads to a severe loss of mental function. These losses are related to the worsening breakdown of the connections between certain neurons in the brain and their eventual death. AD is one of a group of disorders called dementias that are characterized by cognitive and behavioral problems. It is the most common cause of dementia among people age 65 and older.
There are three major hallmarks in the brain that are associated with the disease processes of AD.
- Amyloid plaques, which are made up of fragments of a protein called beta-amyloid peptide mixed with a collection of additional proteins, remnants of neurons, and bits and pieces of other nerve cells. - Neurofibrillary tangles (NFTs), found inside neurons, are abnormal collections of a protein called tau. Normal tau is required for healthy neurons. However, in AD, tau clumps together. As a result, neurons fail to function normally and eventually die. - Loss of connections between neurons responsible for memory and learning. Neurons can't survive when they lose their connections to other neurons. As neurons die throughout the brain, the affected regions begin to atrophy, or shrink. By the final stage of AD, damage is widespread and brain tissue has shrunk significantly.
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What are the treatments for Alzheimer's Disease ?
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Currently there are no medicines that can slow the progression of AD. However, four FDA-approved medications are used to treat AD symptoms. These drugs help individuals carry out the activities of daily living by maintaining thinking, memory, or speaking skills. They can also help with some of the behavioral and personality changes associated with AD. However, they will not stop or reverse AD and appear to help individuals for only a few months to a few years. Donepezil (Aricept), rivastigmine (Exelon), and galantamine (Razadyne) are prescribed to treat mild to moderate AD symptoms. Donepezil was recently approved to treat severe AD as well. The newest AD medication is memantine (Namenda), which is prescribed to treat moderate to severe AD symptoms.
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What is the outlook for Alzheimer's Disease ?
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In very few families, people develop AD in their 30s, 40s, and 50s. This is known as "early onset" AD. These individuals have a mutation in one of three different inherited genes that causes the disease to begin at an earlier age. More than 90 percent of AD develops in people older than 65. This form of AD is called "late-onset" AD, and its development and pattern of damage in the brain is similar to that of early-onset AD. The course of this disease varies from person to person, as does the rate of decline. In most people with AD, symptoms first appear after age 65.
We don't yet completely understand the causes of late-onset AD, but they probably include genetic, environmental, and lifestyle factors. Although the risk of developing AD increases with age, AD and dementia symptoms are not a part of normal aging. There are also some forms of dementia that aren't related to brain diseases such as AD, but are caused by systemic abnormalities such as metabolic syndrome, in which the combination of high blood pressure, high cholesterol, and diabetes causes confusion and memory loss.
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what research (or clinical trials) is being done for Alzheimer's Disease ?
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The National Institute of Neurological Disorders and Stroke (NINDS) supports basic and translational research related to AD through grants to major medical institutions across the country. Current studies are investigating how the development of beta amyloid plaques damages neurons, and how abnormalities in tau proteins create the characteristic neurofibrillary tangles of AD. Other research is exploring the impact of risk factors associated with the development of AD, such as pre-existing problems with blood flow in the blood vessels of the brain. Most importantly, the NINDS supports a number of studies that are developing and testing new and novel therapies that can relieve the symptoms of AD and potentially lead to a cure.
On May 15, 2012 the Obama Administration announced the release of the National Alzheimers Plan. U.S. Secretary of Health and Human Services Kathleen Sebelius reaffirmed our nations commitment to conquering Alzheimers disease and related dementias, with a specific goal of finding effective ways to prevent and treat the disease by 2025.
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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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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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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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what research (or clinical trials) is being done for Myotonia Congenita ?
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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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What is (are) Brachial Plexus Injuries ?
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The brachial plexus is a network of nerves that conducts signals from the spine to the shoulder, arm, and hand. Brachial plexus injuries are caused by damage to those nerves. Symptoms may include a limp or paralyzed arm; lack of muscle control in the arm, hand, or wrist; and a lack of feeling or sensation in the arm or hand. Brachial plexus injuries can occur as a result of shoulder trauma, tumors, or inflammation. There is a rare syndrome called Parsonage-Turner Syndrome, or brachial plexitis, which causes inflammation of the brachial plexus without any obvious shoulder injury. This syndrome can begin with severe shoulder or arm pain followed by weakness and numbness. In infants, brachial plexus injuries may happen during birth if the babys shoulder is stretched during passage in the birth canal (see Brachial Plexus Birth Injuries).
The severity of a brachial plexus injury is determined by the type of damage done to the nerves. The most severe type, avulsion, is caused when the nerve root is severed or cut from the spinal cord. There is also an incomplete form of avulsion in which part of the nerve is damaged and which leaves some opportunity for the nerve to slowly recover function. Neuropraxia, or stretch injury, is the mildest type of injury Neuropraxia damages the protective covering of the nerve, which causes problems with nerve signal conduction, but does not always damage the nerve underneath.
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What are the treatments for Brachial Plexus Injuries ?
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Some brachial plexus injuries may heal without treatment. Many children who are injured during birth improve or recover by 3 to 4 months of age. Treatment for brachial plexus injuries includes physical therapy and, in some cases, surgery.
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What is the outlook for Brachial Plexus Injuries ?
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The site and type of brachial plexus injury determines the prognosis. For avulsion and rupture injuries, there is no potential for recovery unless surgical reconnection is made in a timely manner. The potential for recovery varies for neuroma and neuropraxia injuries. Most individuals with neuropraxia injuries recover spontaneously with a 90-100% return of function.
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what research (or clinical trials) is being done for Brachial Plexus Injuries ?
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The NINDS conducts and supports research on injuries to the nervous system such as brachial plexus injuries. Much of this research is aimed at finding ways to prevent and treat these disorders.
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What is (are) Cough ?
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A cough is a natural reflex that protects your lungs. Coughing helps clear your airways of lung irritants, such as smoke and mucus (a slimy substance). This helps prevent infections. A cough also can be a symptom of a medical problem.
Prolonged coughing can cause unpleasant side effects, such as chest pain, exhaustion, light-headedness, and loss of bladder control. Coughing also can interfere with sleep, socializing, and work.
Overview
Coughing occurs when the nerve endings in your airways become irritated. The airways are tubes that carry air into and out of your lungs. Certain substances (such as smoke and pollen), medical conditions, and medicines can irritate these nerve endings.
A cough can be acute, subacute, or chronic, depending on how long it lasts.
An acute cough lasts less than 3 weeks. Common causes of an acute cough are a common cold or other upper respiratory (RES-pi-rah-tor-e) infections. Examples of other upper respiratory infections include the flu, pneumonia (nu-MO-ne-ah), and whooping cough.
A subacute cough lasts 3 to 8 weeks. This type of cough remains even after a cold or other respiratory infection is over.
A chronic cough lasts more than 8 weeks. Common causes of a chronic cough are upper airway cough syndrome (UACS); asthma; and gastroesophageal (GAS-tro-eh-so-fa-JE-al) reflux disease, or GERD.
"UACS" is a term used to describe conditions that inflame the upper airways and cause a cough. Examples include sinus infections and allergies. These conditions can cause mucus to run down your throat from the back of your nose. This is called postnasal drip.
Asthma is a long-term lung disease that inflames and narrows the airways. GERD occurs if acid from your stomach backs up into your throat.
Outlook
The best way to treat a cough is to treat its cause. For example, asthma is treated with medicines that open the airways.
Your doctor may recommend cough medicine if the cause of your cough is unknown and the cough causes a lot of discomfort. Cough medicines may harm children. If your child has a cough, talk with his or her doctor about how to treat it.
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What causes Cough ?
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Coughing occurs when the nerve endings in your airways become irritated. Certain irritants and allergens, medical conditions, and medicines can irritate these nerve endings.
Irritants and Allergens
An irritant is something you're sensitive to. For example, smoking or inhaling secondhand smoke can irritate your lungs. Smoking also can lead to medical conditions that can cause a cough. Other irritants include air pollution, paint fumes, or scented products like perfumes or air fresheners.
An allergen is something you're allergic to, such as dust, animal dander, mold, or pollens from trees, grasses, and flowers.
Coughing helps clear your airways of irritants and allergens. This helps prevent infections.
Medical Conditions
Many medical conditions can cause acute, subacute, or chronic cough.
Common causes of an acute cough are a common cold or other upper respiratory infections. Examples of other upper respiratory infections include the flu, pneumonia, and whooping cough. An acute cough lasts less than 3 weeks.
A lingering cough that remains after a cold or other respiratory infection is gone often is called a subacute cough. A subacute cough lasts 3 to 8 weeks.
Common causes of a chronic cough are upper airway cough syndrome (UACS), asthma, and gastroesophageal reflux disease (GERD). A chronic cough lasts more than 8 weeks.
"UACS" is a term used to describe conditions that inflame the upper airways and cause a cough. Examples include sinus infections and allergies. These conditions can cause mucus (a slimy substance) to run down your throat from the back of your nose. This is called postnasal drip.
Asthma is a long-term lung disease that inflames and narrows the airways. GERD is a condition in which acid from your stomach backs up into your throat.
Other conditions that can cause a chronic cough include:
Respiratory infections. A cough from an upper respiratory infection can develop into a chronic cough.
Chronic bronchitis (bron-KI-tis). This condition occurs if the lining of the airways is constantly irritated and inflamed. Smoking is the main cause of chronic bronchitis.
Bronchiectasis (brong-ke-EK-tah-sis). This is a condition in which damage to the airways causes them to widen and become flabby and scarred. This prevents the airways from properly moving mucus out of your lungs. An infection or other condition that injures the walls of the airways usually causes bronchiectasis.
COPD (chronic obstructive pulmonary disease). COPD is a disease that prevents enough air from flowing in and out of the airways.
Lung cancer. In rare cases, a chronic cough is due to lung cancer. Most people who develop lung cancer smoke or used to smoke.
Heart failure. Heart failure is a condition in which the heart can't pump enough blood to meet the body's needs. Fluid can build up in the body and lead to many symptoms. If fluid builds up in the lungs, it can cause a chronic cough.
Medicines
Certain medicines can cause a chronic cough. Examples of these medicines are ACE inhibitors and beta blockers. ACE inhibitors are used to treat high blood pressure (HBP). Beta blockers are used to treat HBP, migraine headaches, and glaucoma.
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Who is at risk for Cough? ?
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People at risk for cough include those who:
Are exposed to things that irritate their airways (called irritants) or things that they're allergic to (called allergens). Examples of irritants are cigarette smoke, air pollution, paint fumes, and scented products. Examples of allergens are dust, animal dander, mold, and pollens from trees, grasses, and flowers.
Have certain conditions that irritate the lungs, such as asthma, sinus infections, colds, or gastroesophageal reflux disease.
Smoke. Smoking can irritate your lungs and cause coughing. Smoking and/or exposure to secondhand smoke also can lead to medical conditions that can cause a cough.
Take certain medicines, such as ACE inhibitors and beta blockers. ACE inhibitors are used to treat high blood pressure (HBP). Beta blockers are used to treat HBP, migraine headaches, and glaucoma.
Women are more likely than men to develop a chronic cough. For more information about the substances and conditions that put you at risk for cough, go to "What Causes Cough?"
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What are the symptoms of Cough ?
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When you cough, mucus (a slimy substance) may come up. Coughing helps clear the mucus in your airways from a cold, bronchitis, or other condition. Rarely, people cough up blood. If this happens, you should call your doctor right away.
A cough may be a symptom of a medical condition. Thus, it may occur with other signs and symptoms of that condition. For example, if you have a cold, you may have a runny or stuffy nose. If you have gastroesophageal reflux disease, you may have a sour taste in your mouth.
A chronic cough can make you feel tired because you use a lot of energy to cough. It also can prevent you from sleeping well and interfere with work and socializing. A chronic cough also can cause headaches, chest pain, loss of bladder control, sweating, and, rarely, fractured ribs.
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How to diagnose Cough ?
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Your doctor will diagnose the cause of your cough based on your medical history, a physical exam, and test results.
Medical History
Your doctor will likely ask questions about your cough. He or she may ask how long you've had it, whether you're coughing anything up (such as mucus, a slimy substance), and how much you cough.
Your doctor also may ask:
About your medical history, including whether you have allergies, asthma, or other medical conditions.
Whether you have heartburn or a sour taste in your mouth. These may be signs of gastroesophageal reflux disease (GERD).
Whether you've recently had a cold or the flu.
Whether you smoke or spend time around others who smoke.
Whether you've been around air pollution, a lot of dust, or fumes.
Physical Exam
To check for signs of problems related to cough, your doctor will use a stethoscope to listen to your lungs. He or she will listen for wheezing (a whistling or squeaky sound when you breathe) or other abnormal sounds.
Diagnostic Tests
Your doctor may recommend tests based on the results of your medical history and physical exam. For example, if you have symptoms of GERD, your doctor may recommend a pH probe. This test measures the acid level of the fluid in your throat.
Other tests may include:
An exam of the mucus from your nose or throat. This test can show whether you have a bacterial infection.
A chest x ray. A chest x ray takes a picture of your heart and lungs. This test can help diagnose conditions such as pneumonia and lung cancer.
Lung function tests. These tests measure how much air you can breathe in and out, how fast you can breathe air out, and how well your lungs deliver oxygen to your blood. Lung function tests can help diagnose asthma and other conditions.
An x ray of the sinuses. This test can help diagnose a sinus infection.
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What are the treatments for Cough ?
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The best way to treat a cough is to treat its cause. However, sometimes the cause is unknown. Other treatments, such as medicines and a vaporizer, can help relieve the cough itself.
Treating the Cause of a Cough
Acute and Subacute Cough
An acute cough lasts less than 3 weeks. Common causes of an acute cough are a common cold or other upper respiratory infections. Examples of other upper respiratory infections include the flu, pneumonia, and whooping cough. An acute cough usually goes away after the illness that caused it is over.
A subacute cough lasts 3 to 8 weeks. This type of cough remains even after a cold or other respiratory infection is over.
Studies show that antibiotics and cold medicines can't cure a cold. However, your doctor may prescribe medicines to treat another cause of an acute or subacute cough. For example, antibiotics may be given for pneumonia.
Chronic Cough
A chronic cough lasts more than 8 weeks. Common causes of a chronic cough are upper airway cough syndrome (UACS), asthma, and gastroesophageal reflux disease (GERD).
"UACS" is a term used to describe conditions that inflame the upper airways and cause a cough. Examples include sinus infections and allergies. These conditions can cause mucus (a slimy substance) to run down your throat from the back of your nose. This is called postnasal drip.
If you have a sinus infection, your doctor may prescribe antibiotics. He or she also may suggest you use a medicine that you spray into your nose. If allergies are causing your cough, your doctor may advise you to avoid the substances that you're allergic to (allergens) if possible.
If you have asthma, try to avoid irritants and allergens that make your asthma worse. Take your asthma medicines as your doctor prescribes.
GERD occurs if acid from your stomach backs up into your throat. Your doctor may prescribe a medicine to reduce acid in your stomach. You also may be able to relieve GERD symptoms by waiting 3 to 4 hours after a meal before lying down, and by sleeping with your head raised.
Smoking also can cause a chronic cough. If you smoke, it's important to quit. Talk with your doctor about programs and products that can help you quit smoking. Also, try to avoid secondhand smoke.
Many hospitals have programs that help people quit smoking, or hospital staff can refer you to a program. The Health Topics Smoking and Your Heart article and the National Heart, Lung, and Blood Institute's "Your Guide to a Healthy Heart" booklet have more information about how to quit smoking.
Other causes of a chronic cough include respiratory infections, chronic bronchitis, bronchiectasis, lung cancer, and heart failure. Treatments for these causes may include medicines, procedures, and other therapies. Treatment also may include avoiding irritants and allergens and quitting smoking.
If your chronic cough is due to a medicine you're taking, your doctor may prescribe a different medicine.
Treating the Cough Rather Than the Cause
Coughing is important because it helps clear your airways of irritants, such as smoke and mucus (a slimy substance). Coughing also helps prevent infections.
Cough medicines usually are used only when the cause of the cough is unknown and the cough causes a lot of discomfort.
Medicines can help control a cough and make it easier to cough up mucus. Your doctor may recommend medicines such as:
Prescription cough suppressants, also called antitussives. These medicines can help relieve a cough. However, they're usually used when nothing else works. No evidence shows that over-the-counter cough suppressants relieve a cough.
Expectorants. These medicines may loosen mucus, making it easier to cough up.
Bronchodilators. These medicines relax your airways.
Other treatments also may relieve an irritated throat and loosen mucus. Examples include using a cool-mist humidifier or steam vaporizer and drinking enough fluids. Examples of fluids are water, soup, and juice. Ask your doctor how much fluid you need.
Cough in Children
No evidence shows that cough and cold medicines help children recover more quickly from colds. These medicines can even harm children. Talk with your child's doctor about your child's cough and how to treat it.
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What is (are) Sleep Apnea ?
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Espaol
Sleep apnea (AP-ne-ah) is a common disorder in which you have one or more pauses in breathing or shallow breaths while you sleep.
Breathing pauses can last from a few seconds to minutes. They may occur 30times or more an hour. Typically, normal breathing then starts again, sometimes with a loud snort or choking sound.
Sleep apnea usually is a chronic (ongoing) condition that disrupts your sleep. When your breathing pauses or becomes shallow, youll often move out of deep sleep and into light sleep.
As a result, the quality of your sleep is poor, which makes you tired during the day. Sleep apnea is a leading cause of excessive daytime sleepiness.
Overview
Sleep apnea often goes undiagnosed. Doctors usually can't detect the condition during routine office visits. Also, no blood test can help diagnose the condition.
Most people who have sleep apnea don't know they have it because it only occurs during sleep. A family member or bed partner might be the first to notice signs of sleep apnea.
The most common type of sleep apnea is obstructive sleep apnea. In this condition, the airway collapses or becomes blocked during sleep. This causes shallow breathing or breathing pauses.
When you try to breathe, any air that squeezes past the blockage can cause loud snoring. Obstructive sleep apnea is more common in people who are overweight, but it can affect anyone. For example, small children who have enlarged tonsil tissues in their throats may have obstructive sleep apnea.
The animation below shows how obstructive sleep apnea occurs. Click the "start" button to play the animation. Written and spoken explanations are provided with each frame. Use the buttons in the lower right corner to pause, restart, or replay the animation, or use the scroll bar below the buttons to move through the frames.
The animation shows how the airway can collapse and block air flow to the lungs, causing sleep apnea.
Central sleep apnea is a less common type of sleep apnea. This disorder occurs if the area of your brain that controls your breathing doesn't send the correct signals to your breathing muscles. As a result, you'll make no effort to breathe for brief periods.
Central sleep apnea can affect anyone. However, it's more common in people who have certain medical conditions or use certain medicines.
Central sleep apnea can occur with obstructive sleep apnea or alone. Snoring typically doesn't happen with central sleep apnea.
This article mainly focuses on obstructive sleep apnea.
Outlook
Untreated sleep apnea can:
Increase the risk of high blood pressure, heart attack, stroke, obesity, and diabetes
Increase the risk of, or worsen, heart failure
Make arrhythmias (ah-RITH-me-ahs), or irregular heartbeats, more likely
Increase the chance of having work-related or driving accidents
Sleep apnea is a chronic condition that requires long-term management. Lifestyle changes, mouthpieces, surgery, and breathing devices can successfully treat sleep apnea in many people.
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What causes Sleep Apnea ?
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When you're awake, throat muscles help keep your airway stiff and open so air can flow into your lungs. When you sleep, these muscles relax, which narrows your throat.
Normally, this narrowing doesnt prevent air from flowing into and out of your lungs. But if you have sleep apnea, your airway can become partially or fully blocked because:
Your throat muscles and tongue relax more than normal.
Your tongue and tonsils (tissue masses in the back of your mouth) are large compared with the opening into your windpipe.
You're overweight. The extra soft fat tissue can thicken the wall of the windpipe. This narrows the inside of the windpipe, which makes it harder to keep open.
The shape of your head and neck (bony structure) may cause a smaller airway size in the mouth and throat area.
The aging process limits your brain signals' ability to keep your throat muscles stiff during sleep. Thus, your airway is more likely to narrow or collapse.
Not enough air flows into your lungs if your airway is partially or fully blocked during sleep. As a result, loud snoring and a drop in your blood oxygen level can occur.
If the oxygen drops to a dangerous level, it triggers your brain to disturb your sleep. This helps tighten the upper airway muscles and open your windpipe. Normal breathing then starts again, often with a loud snort or choking sound.
Frequent drops in your blood oxygen level and reduced sleep quality can trigger the release of stress hormones. These hormones raise your heart rate and increase your risk for high blood pressure, heart attack, stroke, and arrhythmias (irregular heartbeats). The hormones also can raise your risk for, or worsen, heart failure.
Untreated sleep apnea also can lead to changes in how your body uses energy. These changes increase your risk for obesity and diabetes.
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Who is at risk for Sleep Apnea? ?
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Obstructive sleep apnea is a common condition. About half of the people who have this condition are overweight.
Men are more likely than women to have sleep apnea. Although the condition can occur at any age, the risk increases as you get older. A family history of sleep apnea also increases your risk for the condition.
People who have small airways in their noses, throats, or mouths are more likely to have sleep apnea. Small airways might be due to the shape of these structures or allergies or other conditions that cause congestion.
Small children might have enlarged tonsil tissues in their throats. Enlarged tonsil tissues raise a childs risk for sleep apnea. Overweight children also might be at increased risk for sleep apnea.
About half of the people who have sleep apnea also have high blood pressure. Sleep apnea also is linked to smoking, metabolic syndrome, diabetes, and risk factors for stroke and heart failure.
Race and ethnicity might play a role in the risk of developing sleep apnea. However, more research is needed.
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What are the symptoms of Sleep Apnea ?
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Major Signs and Symptoms
One of the most common signs of obstructive sleep apnea is loud and chronic (ongoing) snoring. Pauses may occur in the snoring. Choking or gasping may follow the pauses.
The snoring usually is loudest when you sleep on your back; it might be less noisy when you turn on your side. You might not snore every night. Over time, however, the snoring can happen more often and get louder.
You're asleep when the snoring or gasping happens. You likely won't know that you're having problems breathing or be able to judge how severe the problem is. A family member or bed partner often will notice these problems before you do.
Not everyone who snores has sleep apnea.
Another common sign of sleep apnea is fighting sleepiness during the day, at work, or while driving. You may find yourself rapidly falling asleep during the quiet moments of the day when you're not active. Even if you don't have daytime sleepiness, talk with your doctor if you have problems breathing during sleep.
Other Signs and Symptoms
Others signs and symptoms of sleep apnea include:
Morning headaches
Memory or learning problems and not being able to concentrate
Feeling irritable, depressed, or having mood swings or personality changes
Waking up frequently to urinate
Dry mouth or sore throat when you wake up
In children, sleep apnea can cause hyperactivity, poor school performance, and angry or hostile behavior. Children who have sleep apnea also may breathe through their mouths instead of their noses during the day.
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How to diagnose Sleep Apnea ?
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Doctors diagnose sleep apnea based on medical and family histories, a physical exam, and sleep study results. Your primary care doctor may evaluate your symptoms first. He or she will then decide whether you need to see a sleep specialist.
Sleep specialists are doctors who diagnose and treat people who have sleep problems. Examples of such doctors include lung and nerve specialists and ear, nose, and throat specialists. Other types of doctors also can be sleep specialists.
Medical and Family Histories
If you think you have a sleep problem, consider keeping a sleep diary for 1 to 2 weeks. Bring the diary with you to your next medical appointment.
Write down when you go to sleep, wake up, and take naps. Also write down how much you sleep each night, how alert and rested you feel in the morning, and how sleepy you feel at various times during the day. This information can help your doctor figure out whether you have a sleep disorder.
You can find a sample sleep diary in the National Heart, Lung, and Blood Institute's "Your Guide to Healthy Sleep."
At your appointment, your doctor will ask you questions about how you sleep and how you function during the day.
Your doctor also will want to know how loudly and often you snore or make gasping or choking sounds during sleep. Often you're not aware of such symptoms and must ask a family member or bed partner to report them.
Let your doctor know if anyone in your family has been diagnosed with sleep apnea or has had symptoms of the disorder.
Many people aren't aware of their symptoms and aren't diagnosed.
If you're a parent of a child who may have sleep apnea, tell your child's doctor about your child's signs and symptoms.
Physical Exam
Your doctor will check your mouth, nose, and throat for extra or large tissues. Children who have sleep apnea might have enlarged tonsils. Doctors may need only a physical exam and medical history to diagnose sleep apnea in children.
Adults who have sleep apnea may have an enlarged uvula (U-vu-luh) or soft palate. The uvula is the tissue that hangs from the middle of the back of your mouth. The soft palate is the roof of your mouth in the back of your throat.
Sleep Studies
Sleep studies are tests that measure how well you sleep and how your body responds to sleep problems. These tests can help your doctor find out whether you have a sleep disorder and how severe it is. Sleep studies are the most accurate tests for diagnosing sleep apnea.
There are different kinds of sleep studies. If your doctor thinks you have sleep apnea, he or she may recommend a polysomnogram (poly-SOM-no-gram; also called a PSG) or a home-based portable monitor.
Polysomnogram
A PSG is the most common sleep study for diagnosing sleep apnea. This study records brain activity, eye movements, heart rate, and blood pressure.
A PSG also records the amount of oxygen in your blood, air movement through your nose while you breathe, snoring, and chest movements. The chest movements show whether you're making an effort to breathe.
PSGs often are done at sleep centers or sleep labs. The test is painless. You'll go to sleep as usual, except you'll have sensors attached to your scalp, face, chest, limbs, and a finger. The staff at the sleep center will use the sensors to check on you throughout the night.
A sleep specialist will review the results of your PSG to see whether you have sleep apnea and how severe it is. He or she will use the results to plan your treatment.
Your doctor also may use a PSG to find the best setting for you on a CPAP (continuous positive airway pressure) machine. CPAP is the most common treatment for sleep apnea. A CPAP machine uses mild air pressure to keep your airway open while you sleep.
If your doctor thinks that you have sleep apnea, he or she may schedule a split-night sleep study. During the first half of the night, your sleep will be checked without a CPAP machine. This will show whether you have sleep apnea and how severe it is.
If the PSG shows that you have sleep apnea, youll use a CPAP machine during the second half of the split-night study. The staff at the sleep center will adjust the flow of air from the CPAP machine to find the setting that works best for you.
Home-Based Portable Monitor
Your doctor may recommend a home-based sleep test with a portable monitor. The portable monitor will record some of the same information as a PSG. For example, it may record:
The amount of oxygen in your blood
Air movement through your nose while you breathe
Your heart rate
Chest movements that show whether you're making an effort to breathe
A sleep specialist may use the results from a home-based sleep test to help diagnose sleep apnea. He or she also may use the results to decide whether you need a full PSG study in a sleep center.
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What are the treatments for Sleep Apnea ?
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Sleep apnea is treated with lifestyle changes, mouthpieces, breathing devices, and surgery. Medicines typically aren't used to treat the condition.
The goals of treating sleep apnea are to:
Restore regular breathing during sleep
Relieve symptoms such as loud snoring and daytime sleepiness
Treatment may improve other medical problems linked to sleep apnea, such as high blood pressure. Treatment also can reduce your risk for heart disease,stroke, and diabetes.
If you have sleep apnea, talk with your doctor or sleep specialist about the treatment options that will work best for you.
Lifestyle changes and/or mouthpieces may relieve mild sleep apnea. People who have moderate or severe sleep apnea may need breathing devices or surgery.
If you continue to have daytime sleepiness despite treatment, your doctor may ask whether you're getting enough sleep. (Adults should get at least 7 to 8 hours of sleep; children and teens need more. For more information, go to the Health Topics Sleep Deprivation and Deficiency article.)
If treatment and enough sleep don't relieve your daytime sleepiness, your doctor will consider other treatment options.
Lifestyle Changes
If you have mild sleep apnea, some changes in daily activities or habits might be all the treatment you need.
Avoid alcohol and medicines that make you sleepy. They make it harder for your throat to stay open while you sleep.
Lose weight if you're overweight or obese. Even a little weight loss can improve your symptoms.
Sleep on your side instead of your back to help keep your throat open. You can sleep with special pillows or shirts that prevent you from sleeping on your back.
Keep your nasal passages open at night with nasal sprays or allergy medicines, if needed. Talk with your doctor about whether these treatments might help you.
If you smoke, quit. Talk with your doctor about programs and products that can help you quit smoking.
Mouthpieces
A mouthpiece, sometimes called an oral appliance, may help some people who have mild sleep apnea. Your doctor also may recommend a mouthpiece if you snore loudly but don't have sleep apnea.
A dentist or orthodontist can make a custom-fit plastic mouthpiece for treating sleep apnea. (An orthodontist specializes in correcting teeth or jaw problems.) The mouthpiece will adjust your lower jaw and your tongue to help keep your airways open while you sleep.
If you use a mouthpiece, tell your doctor if you have discomfort or pain while using the device. You may need periodic office visits so your doctor can adjust your mouthpiece to fit better.
Breathing Devices
CPAP (continuous positive airway pressure) is the most common treatment for moderate to severe sleep apnea in adults. A CPAP machine uses a mask that fits over your mouth and nose, or just over your nose.
The machine gently blows air into your throat. The pressure from the air helps keep your airway open while you sleep.
Treating sleep apnea may help you stop snoring. But not snoring doesn't mean that you no longer have sleep apnea or can stop using CPAP. Your sleep apnea will return if you stop using your CPAP machine or dont use it correctly.
Usually, a technician will come to your home to bring the CPAP equipment. The technician will set up the CPAP machine and adjust it based on your doctor's prescription. After the initial setup, you may need to have the CPAP adjusted from time to time for the best results.
CPAP treatment may cause side effects in some people. These side effects include a dry or stuffy nose, irritated skin on your face, dry mouth, and headaches. If your CPAP isn't adjusted properly, you may get stomach bloating and discomfort while wearing the mask.
If you're having trouble with CPAP side effects, work with your sleep specialist, his or her nursing staff, and the CPAP technician. Together, you can take steps to reduce the side effects.
For example, the CPAP settings or size/fit of the mask might need to be adjusted. Adding moisture to the air as it flows through the mask or using nasal spray can help relieve a dry, stuffy, or runny nose.
There are many types of CPAP machines and masks. Tell your doctor if you're not happy with the type you're using. He or she may suggest switching to a different type that might work better for you.
People who have severe sleep apnea symptoms generally feel much better once they begin treatment with CPAP.
Surgery
Some people who have sleep apnea might benefit from surgery. The type of surgery and how well it works depend on the cause of the sleep apnea.
Surgery is done to widen breathing passages. It usually involves shrinking, stiffening, or removing excess tissue in the mouth and throat or resetting the lower jaw.
Surgery to shrink or stiffen excess tissue is done in a doctor's office or a hospital. Shrinking tissue may involve small shots or other treatments to the tissue. You may need a series of treatments to shrink the excess tissue. To stiffen excess tissue, the doctor makes a small cut in the tissue and inserts a piece of stiff plastic.
Surgery to remove excess tissue is done in a hospital. You're given medicine to help you sleep during the surgery. After surgery, you may have throat pain that lasts for 1 to 2 weeks.
Surgery to remove the tonsils, if they're blocking the airway, might be helpful for some children. Your child's doctor may suggest waiting some time to see whether these tissues shrink on their own. This is common as small children grow.
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What is (are) Thrombocytopenia ?
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Thrombocytopenia (THROM-bo-si-to-PE-ne-ah) is a condition in which your blood has a lower than normal number of blood cell fragments called platelets (PLATE-lets).
Platelets are made in your bone marrow along with other kinds of blood cells. They travel through your blood vessels and stick together (clot) to stop any bleeding that may happen if a blood vessel is damaged. Platelets also are called thrombocytes (THROM-bo-sites) because a clot also is called a thrombus.
Overview
When your blood has too few platelets, mild to serious bleeding can occur. Bleeding can occur inside your body (internal bleeding) or underneath your skin or from the surface of your skin (external bleeding).
A normal platelet count in adults ranges from 150,000 to 450,000 platelets per microliter of blood. A platelet count of less than 150,000 platelets per microliter is lower than normal. If your blood platelet count falls below normal, you have thrombocytopenia.
However, the risk for serious bleeding doesn't occur until the count becomes very lowless than 10,000 or 20,000 platelets per microliter. Mild bleeding sometimes occurs when the count is less than 50,000 platelets per microliter.
Many factors can cause a low platelet count, such as:
The body's bone marrow doesn't make enough platelets.
The bone marrow makes enough platelets, but the body destroys them or uses them up.
The spleen holds on to too many platelets. The spleen is an organ that normally stores about one-third of the body's platelets. It also helps your body fight infection and remove unwanted cell material.
A combination of the above factors.
How long thrombocytopenia lasts depends on its cause. It can last from days to years.
The treatment for this condition also depends on its cause and severity. Mild thrombocytopenia often doesn't require treatment. If the condition causes or puts you at risk for serious bleeding, you may need medicines or blood or platelet transfusions. Rarely, the spleen may need to be removed.
Outlook
Thrombocytopenia can be fatal, especially if the bleeding is severe or occurs in the brain. However, the overall outlook for people who have the condition is good, especially if the cause of the low platelet count is found and treated.
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What causes Thrombocytopenia ?
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Many factors can cause thrombocytopenia (a low platelet count). The condition can be inherited or acquired. "Inherited" means your parents pass the gene for the condition to you. "Acquired" means you aren't born with the condition, but you develop it. Sometimes the cause of thrombocytopenia isn't known.
In general, a low platelet count occurs because:
The body's bone marrow doesn't make enough platelets.
The bone marrow makes enough platelets, but the body destroys them or uses them up.
The spleen holds on to too many platelets.
A combination of the above factors also may cause a low platelet count.
The Bone Marrow Doesn't Make Enough Platelets
Bone marrow is the sponge-like tissue inside the bones. It contains stem cells that develop into red blood cells, white blood cells, and platelets. When stem cells are damaged, they don't grow into healthy blood cells.
Many conditions and factors can damage stem cells.
Cancer
Cancer, such as leukemia (lu-KE-me-ah) or lymphoma (lim-FO-ma), can damage the bone marrow and destroy blood stem cells. Cancer treatments, such as radiation and chemotherapy, also destroy the stem cells.
Aplastic Anemia
Aplastic anemia is a rare, serious blood disorder in which the bone marrow stops making enough new blood cells. This lowers the number of platelets in your blood.
Toxic Chemicals
Exposure to toxic chemicalssuch as pesticides, arsenic, and benzenecan slow the production of platelets.
Medicines
Some medicines, such as diuretics and chloramphenicol, can slow the production of platelets. Chloramphenicol (an antibiotic) rarely is used in the United States.
Common over-the-counter medicines, such as aspirin or ibuprofen, also can affect platelets.
Alcohol
Alcohol also slows the production of platelets. A temporary drop in the platelet count is common among heavy drinkers, especially if they're eating foods that are low in iron, vitamin B12, or folate.
Viruses
Chickenpox, mumps, rubella, Epstein-Barr virus, or parvovirus can decrease your platelet count for a while. People who have AIDS often develop thrombocytopenia.
Genetic Conditions
Some genetic conditions can cause low numbers of platelets in the blood. Examples include Wiskott-Aldrich and May-Hegglin syndromes.
The Body Destroys Its Own Platelets
A low platelet count can occur even if the bone marrow makes enough platelets. The body may destroy its own platelets due to autoimmune diseases, certain medicines, infections, surgery, pregnancy, and some conditions that cause too much blood clotting.
Autoimmune Diseases
Autoimmune diseases occur if the body's immune system mistakenly attacks healthy cells in the body. If an autoimmune disease destroys the body's platelets, thrombocytopenia can occur.
One example of this type of autoimmune disease is immune thrombocytopenia (ITP). ITP is a bleeding disorder in which the blood doesn't clot as it should. An autoimmune response is thought to cause most cases of ITP.
Normally, your immune system helps your body fight off infections and diseases. But if you have ITP, your immune system attacks and destroys its own platelets. Why this happens isn't known. (ITP also may occur if the immune system attacks your bone marrow, which makes platelets.)
Other autoimmune diseases that destroy platelets include lupus and rheumatoid arthritis.
Medicines
A reaction to medicine can confuse your body and cause it to destroy its platelets. Examples of medicines that may cause this to happen include quinine; antibiotics that contain sulfa; and some medicines for seizures, such as Dilantin, vancomycin, and rifampin. (Quinine is a substance often found in tonic water and nutritional health products.)
Heparin is a medicine commonly used to prevent blood clots. But an immune reaction may trigger the medicine to cause blood clots and thrombocytopenia. This condition is called heparin-induced thrombocytopenia (HIT). HIT rarely occurs outside of a hospital.
In HIT, the body's immune system attacks a substance formed by heparin and a protein on the surface of the platelets. This attack activates the platelets and they start to form blood clots.
Blood clots can form deep in the legs (deep vein thrombosis), or they can break loose and travel to the lungs (pulmonary embolism).
Infection
A low platelet count can occur after blood poisoning from a widespread bacterial infection. A virus, such as mononucleosis or cytomegalovirus, also can cause a low platelet count.
Surgery
Platelets can be destroyed when they pass through man-made heart valves, blood vessel grafts, or machines and tubing used for blood transfusions or bypass surgery.
Pregnancy
About 5 percent of pregnant women develop mild thrombocytopenia when they're close to delivery. The exact cause isn't known for sure.
Rare and Serious Conditions That Cause Blood Clots
Some rare and serious conditions can cause a low platelet count. Two examples are thrombotic thrombocytopenic purpura (TTP) and disseminated intravascular coagulation (DIC).
TTP is a rare blood condition. It causes blood clots to form in the body's small blood vessels, including vessels in the brains, kidneys, and heart.
DIC is a rare complication of pregnancy, severe infections, or severe trauma. Tiny blood clots form suddenly throughout the body.
In both conditions, the blood clots use up many of the blood's platelets.
The Spleen Holds On to Too Many Platelets
Usually, one-third of the body's platelets are held in the spleen. If the spleen is enlarged, it will hold on to too many platelets. This means that not enough platelets will circulate in the blood.
An enlarged spleen often is due to cancer or severe liver disease, such as cirrhosis (sir-RO-sis). Cirrhosis is a disease in which the liver is scarred. This prevents it from working well.
An enlarged spleen also might be due to a bone marrow condition, such as myelofibrosis (MI-eh-lo-fi-BRO-sis). With this condition, the bone marrow is scarred and isn't able to make blood cells.
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Who is at risk for Thrombocytopenia? ?
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People who are at highest risk for thrombocytopenia are those affected by one of the conditions or factors discussed in "What Causes Thrombocytopenia?" This includes people who:
Have certain types of cancer, aplastic anemia, or autoimmune diseases
Are exposed to certain toxic chemicals
Have a reaction to certain medicines
Have certain viruses
Have certain genetic conditions
People at highest risk also include heavy alcohol drinkers and pregnant women.
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What are the symptoms of Thrombocytopenia ?
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Mild to serious bleeding causes the main signs and symptoms of thrombocytopenia. Bleeding can occur inside your body (internal bleeding) or underneath your skin or from the surface of your skin (external bleeding).
Signs and symptoms can appear suddenly or over time. Mild thrombocytopenia often has no signs or symptoms. Many times, it's found during a routine blood test.
Check with your doctor if you have any signs of bleeding. Severe thrombocytopenia can cause bleeding in almost any part of the body. Bleeding can lead to a medical emergency and should be treated right away.
External bleeding usually is the first sign of a low platelet count. External bleeding may cause purpura (PURR-purr-ah) or petechiae (peh-TEE-key-ay). Purpura are purple, brown, and red bruises. This bruising may happen easily and often. Petechiae are small red or purple dots on your skin.
Purpura and Petechiae
Other signs of external bleeding include:
Prolonged bleeding, even from minor cuts
Bleeding or oozing from the mouth or nose, especially nosebleeds or bleeding from brushing your teeth
Abnormal vaginal bleeding (especially heavy menstrual flow)
A lot of bleeding after surgery or dental work also might suggest a bleeding problem.
Heavy bleeding into the intestines or the brain (internal bleeding) is serious and can be fatal. Signs and symptoms include:
Blood in the urine or stool or bleeding from the rectum. Blood in the stool can appear as red blood or as a dark, tarry color. (Taking iron supplements also can cause dark, tarry stools.)
Headaches and other neurological symptoms. These problems are very rare, but you should discuss them with your doctor.
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How to diagnose Thrombocytopenia ?
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Your doctor will diagnose thrombocytopenia based on your medical history, a physical exam, and test results. A hematologist also may be involved in your care. This is a doctor who specializes in diagnosing and treating blood diseases and conditions.
Once thrombocytopenia is diagnosed, your doctor will begin looking for its cause.
Medical History
Your doctor may ask about factors that can affect your platelets, such as:
The medicines you take, including over-the-counter medicines and herbal remedies, and whether you drink beverages that contain quinine. Quinine is a substance often found in tonic water and nutritional health products.
Your general eating habits, including the amount of alcohol you normally drink.
Your risk for AIDS, including questions about blood transfusions, sexual partners, intravenous (IV) drugs, and exposure to infectious blood or bodily fluids at work.
Any family history of low platelet counts.
Physical Exam
Your doctor will do a physical exam to look for signs and symptoms of bleeding, such as bruises or spots on the skin. He or she will check your abdomen for signs of an enlarged spleen or liver. You also will be checked for signs of infection, such as a fever.
Diagnostic Tests
Your doctor may recommend one or more of the following tests to help diagnose a low platelet count. For more information about blood tests, go to the Health Topics Blood Tests article.
Complete Blood Count
A complete blood count (CBC) measures the levels of red blood cells, white blood cells, and platelets in your blood. For this test, a small amount of blood is drawn from a blood vessel, usually in your arm.
If you have thrombocytopenia, the results of this test will show that your platelet count is low.
Blood Smear
A blood smear is used to check the appearance of your platelets under a microscope. For this test, a small amount of blood is drawn from a blood vessel, usually in your arm.
Bone Marrow Tests
Bone marrow tests check whether your bone marrow is healthy. Blood cells, including platelets, are made in your bone marrow. The two bone marrow tests are aspiration (as-pih-RA-shun) and biopsy.
Bone marrow aspiration might be done to find out why your bone marrow isn't making enough blood cells. For this test, your doctor removes a sample of fluid bone marrow through a needle. He or she examines the sample under a microscope to check for faulty cells.
A bone marrow biopsy often is done right after an aspiration. For this test, your doctor removes a sample of bone marrow tissue through a needle. He or she examines the tissue to check the number and types of cells in the bone marrow.
Other Tests
If a bleeding problem is suspected, you may need other blood tests as well. For example, your doctor may recommend PT and PTT tests to see whether your blood is clotting properly.
Your doctor also may suggest an ultrasound to check your spleen. An ultrasound uses sound waves to create pictures of your spleen. This will allow your doctor to see whether your spleen is enlarged.
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What are the treatments for Thrombocytopenia ?
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Treatment for thrombocytopenia depends on its cause and severity. The main goal of treatment is to prevent death and disability caused by bleeding.
If your condition is mild, you may not need treatment. A fully normal platelet count isn't necessary to prevent bleeding, even with severe cuts or accidents.
Thrombocytopenia often improves when its underlying cause is treated. People who inherit the condition usually don't need treatment.
If a reaction to a medicine is causing a low platelet count, your doctor may prescribe another medicine. Most people recover after the initial medicine has been stopped. For heparin-induced thrombocytopenia (HIT), stopping the heparin isn't enough. Often, you'll need another medicine to prevent blood clotting.
If your immune system is causing a low platelet count, your doctor may prescribe medicines to suppress the immune system.
Severe Thrombocytopenia
If your thrombocytopenia is severe, your doctor may prescribe treatments such as medicines, blood or platelet transfusions, or splenectomy.
Medicines
Your doctor may prescribe corticosteroids, also called steroids for short. Steroids may slow platelet destruction. These medicines can be given through a vein or by mouth. One example of this type of medicine is prednisone.
The steroids used to treat thrombocytopenia are different from illegal steroids taken by some athletes to enhance performance.
Your doctor may prescribe immunoglobulins or medicines like rituximab to block your immune system. These medicines are given through a vein. He or she also may prescribe other medicines, such as eltrombopag or romiplostim, to help your body make more platelets. The former comes as a tablet to take by mouth and the latter is given as an injection under the skin.
Blood or Platelet Transfusions
Blood or platelet transfusions are used to treat people who have active bleeding or are at a high risk of bleeding. During this procedure, a needle is used to insert an intravenous (IV) line into one of your blood vessels. Through this line, you receive healthy blood or platelets.
For more information about this procedure, go to the Health Topics Blood Transfusion article.
Splenectomy
A splenectomy is surgery to remove the spleen. This surgery may be used if treatment with medicines doesn't work. This surgery mostly is used for adults who have immune thrombocytopenia (ITP). However, medicines often are the first course of treatment.
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