problem
stringlengths 16
191
| explanation
stringlengths 6
29k
⌀ | type
stringlengths 3
136
⌀ |
|---|---|---|
What is the outlook for Chorea ?
|
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.
|
Chorea
|
what research (or clinical trials) is being done for Chorea ?
|
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.
|
Chorea
|
What is (are) Menkes Disease ?
|
Menkes disease is caused by a defective gene named ATPTA1 that regulates the metabolism of copper in the body. The disease primarily affects male infants. Copper accumulates at abnormally low levels in the liver and brain, but at higher than normal levels in the kidney and intestinal lining. Affected infants may be born prematurely, but appear healthy at birth and develop normally for 6 to 8 weeks. Then symptoms begin, including floppy muscle tone, seizures, and failure to thrive. Menkes disease is also characterized by subnormal body temperature and strikingly peculiar hair, which is kinky, colorless or steel-colored, and breaks easily. There is often extensive neurodegeneration in the gray matter of the brain. Arteries in the brain may be twisted with frayed and split inner walls. This can lead to rupture or blockage of the arteries. Weakened bones (osteoporosis) may result in fractures.
|
Menkes Disease
|
What are the treatments for Menkes Disease ?
|
Treatment with daily copper injections may improve the outcome in Menkes disease if it begins within days after birth. Other treatment is symptomatic and supportive.
|
Menkes Disease
|
What is the outlook for Menkes Disease ?
|
Since newborn screening for this disorder is not available, and early detection is infrequent because the clinical signs of Menkes disease are subtle in the beginning, the disease is rarely treated early enough to make a significant difference. The prognosis for babies with Menkes disease is poor. Most children with Menkes disease die within the first decade of life.
|
Menkes Disease
|
what research (or clinical trials) is being done for Menkes Disease ?
|
Recent research sponsored by the NINDS developed a blood test that could be given to newborns at risk for Menkes disease based on a positive family history for the disorder or other indications. The test measures 4 different chemicals in the blood and, depending upon their levels, can accurately diagnose the presence of Menkes disease before symptoms appear. Study results showed higher survival rates for children given the earliest copper injection treatment and improved, if not normal, 2. Additional research is being performed by the Eunice Kennedy Shriver National Institute of Child Health and Human Development, in collaboration with the NINDS, that applies gene therapy approaches to Menkes disease.3
1. Kaler, SG. The neurology of STPAT copper transporter disease: emerging concepts and future trends. Nature Reviews Neurology, 2001:7:15-19..
2. Kaler SG, et al.Neonatal Diagnosis and Treatment of Menkes Disease. N Engl J Med 2008;358:605-14.
3. Donsante, A. et. al. ATPTA gene addition to the choroid plexus results in long-term rescue of the lethal copper transport defect in a Menkes disease mouse model. Molecular Therapy (in press as of August 2011).
|
Menkes Disease
|
What is (are) Williams Syndrome ?
|
Williams Syndrome (WS) is a rare genetic disorder characterized by mild to moderate delays in cognitive development or learning difficulties, a distinctive facial appearance, and a unique personality that combines over-friendliness and high levels of empathy with anxiety. The most significant medical problem associated with WS is cardiovascular disease caused by narrowed arteries. WS is also associated with elevated blood calcium levels in infancy. A random genetic mutation (deletion of a small piece of chromosome 7), rather than inheritance, most often causes the disorder. However, individuals who have WS have a 50 percent chance of passing it on if they decide to have children. The characteristic facial features of WS include puffiness around the eyes, a short nose with a broad nasal tip, wide mouth, full cheeks, full lips, and a small chin. People with WS are also likely to have a long neck, sloping shoulders, short stature, limited mobility in their joints, and curvature of the spine. Some individuals with WS have a star-like pattern in the iris of their eyes. Infants with WS are often irritable and colicky, with feeding problems that keep them from gaining weight. Chronic abdominal pain is common in adolescents and adults. By age 30, the majority of individuals with WS have diabetes or pre-diabetes and mild to moderate sensorineural hearing loss (a form of deafness due to disturbed function of the auditory nerve). For some people, hearing loss may begin as early as late childhood. WS also is associated with a characteristic cognitive profile of mental strengths and weaknesses composed of strengths in verbal short-term memory and language, combined with severe weakness in visuospatial construction (the skills used to copy patterns, draw, or write). Within language, the strongest skills are typically in concrete, practical vocabulary, which in many cases is in the low average to average range for the general population. Abstract or conceptual-relational vocabulary is much more limited. Most older children and adults with WS speak fluently and use good grammar. More than 50% of children with WS have attention deficit disorders (ADD or ADHD), and about 50% have specific phobias, such as a fear of loud noises. The majority of individuals with WS worry excessively.
|
Williams Syndrome
|
What are the treatments for Williams Syndrome ?
|
There is no cure for Williams syndrome, nor is there a standard course of treatment. Because WS is an uncommon and complex disorder, multidisciplinary clinics have been established at several centers in the United States . Treatments are based on an individuals particular symptoms. People with WS require regular cardiovascular monitoring for potential medical problems, such as symptomatic narrowing of the blood vessels, high blood pressure, and heart failure
|
Williams Syndrome
|
What is the outlook for Williams Syndrome ?
|
The prognosis for individuals with WS varies. Some degree of impaired intellect is found in most people with the disorder. Some adults are able to function independently, complete academic or vocational school, and live in supervised homes or on their own; most live with a caregiver. Parents can increase the likelihood that their child will be able to live semi-independently by teaching self-help skills early. Early intervention and individualized educational programs designed with the distinct cognitive and personality profiles of WS in mind also help individuals maximize their potential. Medical complications associated with the disorder may shorten the lifespans of some individuals with WS.
|
Williams Syndrome
|
what research (or clinical trials) is being done for Williams Syndrome ?
|
The National Institutes of Health (NIH), and the National Institute of Neurological Disorders and Stroke (NINDS), have funded many of the research studies exploring the genetic and neurobiological origins of WS. In the early 1990s, researchers located and identified the genetic mutation responsible for the disorder: the deletion of a small section of chromosome 7 that contains approximately 25 genes. NINDS continues to support WS researchers including, for example, groups that are attempting to link specific genes with the corresponding facial, cognitive, personality, and neurological characteristics of WS.
|
Williams Syndrome
|
What is (are) Batten Disease ?
|
Batten disease is a fatal, inherited disorder of the nervous system that begins in childhood. In some cases, the early signs are subtle, taking the form of personality and behavior changes, slow learning, clumsiness, or stumbling. Symptoms of Batten disease are linked to a buildup of substances called lipopigments in the body's tissues. Lipopigments are made up of fats and proteins. Because vision loss is often an early sign, Batten disease may be first suspected during an eye exam. Often, an eye specialist or other physician may refer the child to a neurologist. Diagnostic tests for Batten disease include blood or urine tests, skin or tissue sampling, an electroencephalogram (EEG), electrical studies of the eyes, and brain scans.
|
Batten Disease
|
What are the treatments for Batten Disease ?
|
As yet, no specific treatment is known that can halt or reverse the symptoms of Batten disease. However, seizures can sometimes be reduced or controlled with anticonvulsant drugs, and other medical problems can be treated appropriately as they arise. Physical therapy and occupational therapy may help patients retain functioning as long as possible.
|
Batten Disease
|
What is the outlook for Batten Disease ?
|
Over time, affected children suffer cognitive impairment, worsening seizures, and progressive loss of sight and motor skills. Eventually, children with Batten disease become blind, bedridden, and demented. Batten disease is often fatal by the late teens or twenties.
|
Batten Disease
|
what research (or clinical trials) is being done for Batten Disease ?
|
The biochemical defects that underlie several NCLs have recently been discovered. An enzyme called palmitoyl-protein thioesterase has been shown to be insufficiently active in the infantile form of Batten disease (this condition is now referred to as CLN1). In the late infantile form (CLN2), a deficiency of an acid protease, an enzyme that hydrolyzes proteins, has been found as the cause of this condition. A mutated gene has been identified in juvenile Batten disease (CLN3), but the protein for which this gene codes has not been identified. In addition, research scientists are working with NCL animal models to improve understanding and treatment of these disorders. One research team, for example, is testing the usefulness of bone marrow transplantation in a sheep model, while other investigators are working to develop mouse models. Mouse models will make it easier for scientists to study the genetics of these diseases.
|
Batten Disease
|
What is (are) Attention Deficit-Hyperactivity Disorder ?
|
Attention deficit-hyperactivity disorder (ADHD) is a neurobehavioral disorder that affects 3-5 percent of all American children. It interferes with a person's ability to stay on a task and to exercise age-appropriate inhibition (cognitive alone or both cognitive and behavioral). Some of the warning signs of ADHD include failure to listen to instructions, inability to organize oneself and school work, fidgeting with hands and feet, talking too much, leaving projects, chores and homework unfinished, and having trouble paying attention to and responding to details. There are several types of ADHD: a predominantly inattentive subtype, a predominantly hyperactive-impulsive subtype, and a combined subtype. ADHD is usually diagnosed in childhood, although the condition can continue into the adult years.
|
Attention Deficit-Hyperactivity Disorder
|
What are the treatments for Attention Deficit-Hyperactivity Disorder ?
|
The usual course of treatment may include medications such as methylphenidate (Ritalin) or dextroamphetamine (Dexedrine), which are stimulants that decrease impulsivity and hyperactivity and increase attention. Most experts agree that treatment for ADHD should address multiple aspects of the individual's functioning and should not be limited to the use of medications alone. Treatment should include structured classroom management, parent education (to address discipline and limit-setting), and tutoring and/or behavioral therapy for the child.
|
Attention Deficit-Hyperactivity Disorder
|
What is the outlook for Attention Deficit-Hyperactivity Disorder ?
|
There is no "cure" for ADHD. Children with the disorder seldom outgrow it; however, some may find adaptive ways to accommodate the ADHD as they mature.
|
Attention Deficit-Hyperactivity Disorder
|
what research (or clinical trials) is being done for Attention Deficit-Hyperactivity Disorder ?
|
Several components of the NIH support research on developmental disorders such as ADHD. Research programs of the NINDS, the National Institute of Mental Health (NIMH), and the National Institute of Child Health and Human Development (NICHD) seek to address unanswered questions about the causes of ADHD, as well as to improve diagnosis and treatment.
|
Attention Deficit-Hyperactivity Disorder
|
What is (are) Traumatic Brain Injury ?
|
Traumatic brain injury (TBI), a form ofacquired brain injury, occurs when a sudden trauma causes damage to the brain. TBI can result when the head suddenly and violently hits an object, or when an object pierces the skull and enters brain tissue.Symptoms of a TBI can be mild, moderate, or severe, depending on the extent of the damage to the brain. A person with a mild TBI may remain conscious or may experience a loss of consciousness for a few seconds or minutes. Other symptoms of mild TBI include headache, confusion, lightheadedness, dizziness, blurred vision or tired eyes, ringing in the ears, bad taste in the mouth, fatigue or lethargy, a change in sleep patterns, behavioral or mood changes, and trouble with memory, concentration, attention, or thinking. A person with a moderate or severe TBI may show these same symptoms, but may also have a headache that gets worse or does not go away, repeated vomiting or nausea, convulsions or seizures, an inability to awaken from sleep, dilation of one or both pupils of the eyes, slurred speech, weakness or numbness in the extremities, loss of coordination, and increased confusion, restlessness, or agitation.
|
Traumatic Brain Injury
|
What are the treatments for Traumatic Brain Injury ?
|
Anyone with signs of moderate or severe TBI should receive medical attention as soon as possible. Because little can be done to reverse the initial brain damage caused by trauma, medical personnel try to stabilize an individual with TBI and focus on preventing further injury. Primary concerns include insuring proper oxygen supply to the brain and the rest of the body, maintaining adequate blood flow, and controlling blood pressure. Imaging tests help in determining the diagnosis and prognosis of a TBI patient. Patients with mild to moderate injuries may receive skull and neck X-rays to check for bone fractures or spinal instability. For moderate to severe cases, the imaging test is a computed tomography (CT) scan. Moderately to severely injured patients receive rehabilitation that involves individually tailored treatment programs in the areas of physical therapy, occupational therapy, speech/language therapy, physiatry (physical medicine), psychology/psychiatry, and social support.
|
Traumatic Brain Injury
|
What is the outlook for Traumatic Brain Injury ?
|
Approximately half of severely head-injured patients will need surgery to remove or repair hematomas (ruptured blood vessels) or contusions (bruised brain tissue). Disabilities resulting from a TBI depend upon the severity of the injury, the location of the injury, and the age and general health of the individual. Some common disabilities include problems with cognition (thinking, memory, and reasoning), sensory processing (sight, hearing, touch, taste, and smell), communication (expression and understanding), and behavior or mental health (depression, anxiety, personality changes, aggression, acting out, and social inappropriateness). More serious head injuries may result in stupor, an unresponsive state, but one in which an individual can be aroused briefly by a strong stimulus, such as sharp pain; coma, a state in which an individual is totally unconscious, unresponsive, unaware, and unarousable; vegetative state, in which an individual is unconscious and unaware of his or her surroundings, but continues to have a sleep-wake cycle and periods of alertness; and a persistent vegetative state (PVS), in which an individual stays in a vegetative state for more than a month.
|
Traumatic Brain Injury
|
what research (or clinical trials) is being done for Traumatic Brain Injury ?
|
The National Institute of Neurological Disorders and Stroke (NINDS) supports TBI research through grants to major medical institutions across the country and conducts TBI research in its intramural laboratories and Clinical Center at the National Institutes of Health (NIH) in Bethesda,Maryland. The Center for Neuroscience and Regenerative Medicine (CNRM) is a TBI research collaboration between intramural NIH and the Uniformed Services University for the Health Sciences (USUHS). NINDS-funded research involves studies in the laboratory and in clinical settings to better understand TBI and the biological mechanisms underlying damage to the brain. This research will allow scientists to develop strategies and interventions to limit the primary and secondary brain damage that occurs within days of a head trauma, and to devise therapies to treat brain injury and improve long-term recovery of function.
More information about Traumatic Brain Injury (TBI) Research is available at: http://www.ninds.nih.gov/research/tbi/index.htm
More information about CNRM clinical studies is available at: http://cnrmstudies.org/
|
Traumatic Brain Injury
|
What is (are) Cavernous Malformation ?
|
Cerebral cavernous malformations (CCMs) are vascular lesions comprised of clusters of tightly packed, abnormally thin-walled small blood vessels (capillaries) that displace normal neurological tissue in the brain or spinal cord. The vessels are filled with slow-moving or stagnant blood that is usually clotted or in a state of decomposition. Cavernous malformations can occur in the brain, spinal cord, and some other body regions. In the brain and spinal cord these cavernous lesions are quite fragile and are prone to bleeding, causing hemorrhagic strokes (bleeding into the brain), seizures, and neurological deficits. CCMs can range in size from a few fractions of an inch to several inches in diameter, depending on the number of blood vessels involved. Some people develop multiple lesions while others never experience related medical problems. Hereditary forms of CCM are caused by mutations in one of three CCM disease genes: CCM1, CCM2, and CCM3. A large population with hereditary CCM disease is found in New Mexico and the Southwestern United States, in which the disease is caused by mutations in the gene CCM1 (or KRIT1).
|
Cavernous Malformation
|
What are the treatments for Cavernous Malformation ?
|
The primary treatment option for a CCM is surgical removal. Radiation therapy has not been shown to be effective. The decision to operate is made based upon the risk of approaching the lesion. For example, symptomatic lesions close to the brain surface in non eloquent brain (areas for example, those areas not involved with motor function, speech, vision, hearing, memory, and learning) are very likely to be candidates for removal. On the other hand, lesions located in deep brain areas are associated with higher surgical risk and are often not candidates for surgery until the lesion has bled multiple times. Medications can often lessen general symptoms such as headache, back pain, and seizures.
|
Cavernous Malformation
|
What is the outlook for Cavernous Malformation ?
|
Rebleeding from a cavernous angioma is common, it is not predictable, and individuals frequently have multiple CCMs found via magnetic resonance imaging. Individuals with CCM are faced with a diagnosis that imparts risk of multiple future hemorrhages that occur seemingly at random and without any preventative therapy except surgical removal.
|
Cavernous Malformation
|
what research (or clinical trials) is being done for Cavernous Malformation ?
|
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. Studies of cerebral cavernous malformations (CCMs) show that alterations in the function of structural proteins may also give rise to vascular malformations. Currently there is no therapy to prevent the development or progression of CCMs. NINDS-funded scientists have developed an animal model that studies two of the familial genes related to the development of CCMs. Research shows that the protein signaling pathway Rhoa/ROCK, which allows cells to communicate regarding the formation of cell structure, is involved in blood vessel activity/ and the flow of molecules and cells into and out of blood vessels. These scientists hypothesize that blocking ROCK activity will inhibit CCM development and hemorrhage, and possibly create a therapy for these malformations.
|
Cavernous Malformation
|
What is (are) Farber's Disease ?
|
Farbers disease, also known as Farber's lipogranulomatosis, describes a group of inherited metabolic disorders called lipid storage diseases, in which excess amounts of lipids (oils, fatty acids, and related compounds) build up to harmful levels in the joints, tissues, and central nervous system. The liver, heart, and kidneys may also be affected. Disease onset is typically seen in early infancy but may occur later in life. Symptoms of the classic form may have moderately impaired mental ability and difficulty with swallowing. Other symptoms may include chronic shortening of muscles or tendons around joints. arthritis, swollen lymph nodes and joints, hoarseness, nodules under the skin (and sometimes in the lungs and other parts of the body), and vomiting. Affected persons may require the insertion of a breathing tube. In severe cases, the liver and spleen are enlarged. Farber's disease is caused by a deficiency of the enzyme ceramidase. The disease occurs when both parents carry and pass on the defective gene that regulates the protein sphingomyelin. Children born to these parents have a 25 percent chance of inheriting the disorder and a 50 percent chance of carrying the faulty gene. The disorder affects both males and females.
|
Farber's Disease
|
What are the treatments for Farber's Disease ?
|
Currently there is no specific treatment for Farbers disease. Corticosteroids may help relieve pain. Bone marrow transplants may improve granulomas (small masses of inflamed tissue) on individuals with little or no lung or nervous system complications. Older persons may have granulomas surgically reduced or removed.
|
Farber's Disease
|
What is the outlook for Farber's Disease ?
|
Most children with the classic form of Farbers disease die by age 2, usually from lung disease. Children born with the most severe form of the disease usually die within 6 months, while individuals having a milder form of the disease may live into their teenage years or young adulthood.
|
Farber's Disease
|
what research (or clinical trials) is being done for Farber's Disease ?
|
The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. Research funded by the NINDS focuses on better understanding of how neurological deficits arise in lipid storage diseases and on the development of new treatments targeting disease mechanisms, including gene therapies, cell-based therapies and pharmacological approaches. The NINDS, along with other Institutes and Centers at the National Institutes of Health, supports the Lysosomal Disease network of centers that addresses some of the major challenges in the diagnosis, management, and therapy of rare diseases, including the lipid storage diseases.Research on lipid storage diseases within the Network includes longitudinal studies of the natural history and/or treatment of these disorders. Additional studies will emphasize the quantitative analysis of the central nervous system structure and function, and develop biomarkers (signs that can indicate the diagnosis or progression of a disease) for these disorders.
|
Farber's Disease
|
What is (are) Carpal Tunnel Syndrome ?
|
Carpal tunnel syndrome (CTS) occurs when the median nerve, which runs from the forearm into the palm of the hand, becomes pressed or squeezed at the wrist. The carpal tunnel is a narrow, rigid passageway of ligament and bones at the base of the hand that houses the median nerve and the tendons that bend the fingers. The median nerve provides feeling to the palm side of the thumb and to most of the fingers. Symptoms usually start gradually, with numbness, tingling, weakness, and sometimes pain in the hand and wrist. People might have difficulty with tasks such as driving or reading a book. Decreased hand strength may make it difficult to grasp small objects or perform other manual tasks. In some cases no direct cause of the syndrome can be identified. Contributing factors include trauma or injury to the wrist that causes swelling, thyroid disease, rheumatoid arthritis, and fluid retention during pregnancy. Women are three times more likely than men to develop carpal tunnel syndrome. The disorder usually occurs only in adults.
|
Carpal Tunnel Syndrome
|
What are the treatments for Carpal Tunnel Syndrome ?
|
Initial treatment generally involves immobilizing the wrist in a splint, nonsteroidal anti-inflammatory drugs to temporarily reduce swelling, and injections of corticosteroid drugs (such as prednisone). For more severe cases, surgery may be recommended.
|
Carpal Tunnel Syndrome
|
What is the outlook for Carpal Tunnel Syndrome ?
|
In general, carpal tunnel syndrome responds well to treatment, but less than half of individuals report their hand(s) feeling completely normal following surgery. Some residual numbness or weakness is common. At work, people can perform stretching exercises, take frequent rest breaks, wear splints to keep wrists straight, and use correct posture and wrist position to help prevent or worsen symptoms. Wearing fingerless gloves can help keep hands warm and flexible.
|
Carpal Tunnel Syndrome
|
what research (or clinical trials) is being done for Carpal Tunnel Syndrome ?
|
The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to conduct fundamental research on the brain and nervous system, and to use that knowledge to reduce the burden of neurological disease. NINDS-funded scientists are studying the factors that lead to long-lasting nerve pain disorders, and how the affected nerves are related to symptoms of numbness, loss of function, and pain. Researchers also are examining biomechanical stresses that contribute to the nerve damage responsible for symptoms of carpal tunnel syndrome in order to better understand, treat, and prevent it.
|
Carpal Tunnel Syndrome
|
What is (are) Whiplash ?
|
Whiplash-a soft tissue injury to the neck-is also called neck sprain or neck strain. It is characterized by a collection of symptoms that occur following damage to the neck, usually because of sudden extension and flexion. The disorder commonly occurs as the result of an automobile accident and may include injury to intervertebral joints, discs, and ligaments, cervical muscles, and nerve roots. Symptoms such as neck pain may be present directly after the injury or may be delayed for several days. In addition to neck pain, other symptoms may include neck stiffness, injuries to the muscles and ligaments (myofascial injuries), headache, dizziness, abnormal sensations such as burning or prickling (paresthesias), or shoulder or back pain. In addition, some people experience cognitive, somatic, or psychological conditions such as memory loss, concentration impairment, nervousness/irritability, sleep disturbances, fatigue, or depression.
|
Whiplash
|
What are the treatments for Whiplash ?
|
Treatment for individuals with whiplash may include pain medications, nonsteroidal anti-inflammatory drugs, antidepressants, muscle relaxants, and a cervical collar (usually worn for 2 to 3 weeks). Range of motion exercises, physical therapy, and cervical traction may also be prescribed. Supplemental heat application may relieve muscle tension.
|
Whiplash
|
What is the outlook for Whiplash ?
|
Generally, prognosis for individuals with whiplash is good. The neck and head pain clears within a few days or weeks. Most patients recover within 3 months after the injury, however, some may continue to have residual neck pain and headaches.
|
Whiplash
|
what research (or clinical trials) is being done for Whiplash ?
|
The NINDS conducts and supports research on trauma-related disorders such as whiplash. Much of this research focuses on increasing scientific understanding of these disorders and finding ways to prevent and treat them.
|
Whiplash
|
What is (are) Meralgia Paresthetica ?
|
Meralgia paresthetica is a disorder characterized by tingling, numbness, and burning pain in the outer side of the thigh. The disorder is caused by compression of the lateral femoral cutaneous nerve, a sensory nerve to the skin, as it exits the pelvis. People with the disorder often notice a patch of skin that is sensitive to touch and sometimes painful. Meralgia paresthetica should not be associated with weakness or radiating pain from the back.
|
Meralgia Paresthetica
|
What are the treatments for Meralgia Paresthetica ?
|
Treatment for meralgia paresthetica is symptomatic and supportive. The majority of cases improve with conservative treatment by wearing looser clothing and losing weight. Medications used to treat neurogenic pain, such as anti-seizure or anti-depressant medications, may alleviate symptoms of pain. In a few cases, in which pain is persistent or severe, surgical intervention may be indicated.
|
Meralgia Paresthetica
|
What is the outlook for Meralgia Paresthetica ?
|
Meralgia paresthetica usually has a good prognosis. In most cases, meralgia paresthetica will improve with conservative treatment or may even spontaneously resolve. Surgical intervention is not always fully successful.
|
Meralgia Paresthetica
|
what research (or clinical trials) is being done for Meralgia Paresthetica ?
|
Within the NINDS research programs, meralgia paresthetica is addressed primarily through studies associated with pain research. NINDS vigorously pursues a research program seeking new treatments for pain and nerve damage with the ultimate goal of reversing these debilitating conditions.
|
Meralgia Paresthetica
|
What is (are) Sturge-Weber Syndrome ?
|
Sturge-Weber syndrome is a neurological disorder indicated at birth by a port-wine stain birthmark on the forehead and upper eyelid of one side of the face. The birthmark can vary in color from light pink to deep purple and is caused by an overabundance of capillaries around the trigeminal nerve just beneath the surface of the face. Sturge-Weber syndrome is also accompanied by abnormal blood vessels on the brain surface and the loss of nerve cells and calcification of underlying tissue in the cerebral cortex of the brain on the same side of the brain as the birthmark. Neurological symptoms include seizures that begin in infancy and may worsen with age. Convulsions usually happen on the side of the body opposite the birthmark and vary in severity. There may be intermittent or permanent muscle weakness on the same side. Some children will have developmental delays and cognitive impairment; most will have glaucoma (increased pressure within the eye) at birth or developing later. The increased pressure within the eye can cause the eyeball to enlarge and bulge out of its socket (buphthalmos). There is an increased risk for migraine headaches. Sturge-Weber syndrome rarely affects other body organs.
|
Sturge-Weber Syndrome
|
What are the treatments for Sturge-Weber Syndrome ?
|
Treatment for Sturge-Weber syndrome is symptomatic. Laser treatment may be used to lighten or remove the birthmark. Anticonvulsant medications may be used to control seizures. Persons with drug-resistant seizures may be treated by surgical removal of epileptic brain tissue. Surgery may be performed on more serious cases of glaucoma. Physical therapy should be considered for infants and children with muscle weakness. Educational therapy is often prescribed for those with impaired cognition or developmental delays. Doctors recommend yearly monitoring for glaucoma.
|
Sturge-Weber Syndrome
|
What is the outlook for Sturge-Weber Syndrome ?
|
Although it is possible for the birthmark and atrophy in the cerebral cortex to be present without symptoms, most infants will develop convulsive seizures during their first year of life. There is a greater likelihood of intellectual impairment when seizures start before the age of 2 and are resistant to treatment. Prognosis is worst in the minority of children who have both sides of the brain affected by the blood vessel abnormalities.
|
Sturge-Weber Syndrome
|
what research (or clinical trials) is being done for Sturge-Weber Syndrome ?
|
The NINDS supports a broad program of research to better understand congenital seizure disorders. This research is aimed at developing techniques to diagnose, treat, prevent, and ultimately cure disorders such as Sturge-Weber syndrome.
|
Sturge-Weber Syndrome
|
What is (are) Pelizaeus-Merzbacher Disease ?
|
Pelizaeus-Merzbacher disease (PMD) is a rare, progressive, degenerative central nervous system disorder in which coordination, motor abilities, and intellectual function deteriorate. The disease is one of a group of gene-linked disorders known as the leukodystrophies, which affect growth of the myelin sheath -- the fatty covering that wraps around and protects nerve fibers in the brain. The disease is caused by a mutation in the gene that controls the production of a myelin protein called proteolipid protein-1 (PLP1). PMD is inherited as an X-linked recessive trait; the affected individuals are male and the mothers are carriers of the PLP1 mutation. Severity and onset of the disease ranges widely, depending on the type of PLP1 mutation. PMD is one of a spectrum of diseases associated with PLP1, which also includes Spastic Paraplegia Type 2 (SPG2). The PLP1-related disorders span a continuum of neurologic symptoms that range from severe central nervous system involvement (PMD) to progressive weakness and stiffness of the legs (SPG2). There are four general classifications within this spectrum of diseases. In order of severity, they are:
- Connatal PMD, which is the most severe type and involves delayed mental and physical development and severe neurological symptoms; - Classic PMD, in which the early symptoms include muscle weakness, involuntary movements of the eyes (nystagmus), and delays in motor development within the first year of life; - Complicated SPG2, which features motor development issues and brain involvement, and, - Pure SPG2, which includes cases of PMD that do not have neurologic complications.
Noticeable changes in the extent of myelination can be detected by MRI analyses of the brain. Additional symptoms of PMD may include slow growth, tremor, failure to develop normal control of head movement, and deteriorating speech and cognitive function.
|
Pelizaeus-Merzbacher Disease
|
What are the treatments for Pelizaeus-Merzbacher Disease ?
|
There is no cure for Pelizaeus-Merzbacher disease, nor is there a standard course of treatment. Treatment is symptomatic and supportive and may include medication for movement disorders.
|
Pelizaeus-Merzbacher Disease
|
What is the outlook for Pelizaeus-Merzbacher Disease ?
|
The prognosis for those with the severe forms of Pelizaeus-Merzbacher disease is poor, with progressive deterioration until death. On the other end of the disease spectrum, individuals with the mild form, in which spastic paraplegia is the chief symptom, may have nearly normal activity and life span.
|
Pelizaeus-Merzbacher Disease
|
what research (or clinical trials) is being done for Pelizaeus-Merzbacher Disease ?
|
NINDS supports research on gene-linked disorders, including the leukodystrophies. The goals of this research are to increase scientific understanding of these disorders and to find ways to prevent, treat, and ultimately cure them.
|
Pelizaeus-Merzbacher Disease
|
What is (are) Piriformis Syndrome ?
|
Piriformis syndrome is a rare neuromuscular disorder that occurs when the piriformis muscle compresses or irritates the sciatic nerve-the largest nerve in the body. The piriformis muscle is a narrow muscle located in the buttocks. Compression of the sciatic nerve causes pain-frequently described as tingling or numbness-in the buttocks and along the nerve, often down to the leg. The pain may worsen as a result of sitting for a long period of time, climbing stairs, walking, or running.
|
Piriformis Syndrome
|
What are the treatments for Piriformis Syndrome ?
|
Generally, treatment for the disorder begins with stretching exercises and massage. Anti-inflammatory drugs may be prescribed. Cessation of running, bicycling, or similar activities may be advised. A corticosteroid injection near where the piriformis muscle and the sciatic nerve meet may provide temporary relief. In some cases, surgery is recommended.
|
Piriformis Syndrome
|
What is the outlook for Piriformis Syndrome ?
|
The prognosis for most individuals with piriformis syndrome is good. Once symptoms of the disorder are addressed, individuals can usually resume their normal activities. In some cases, exercise regimens may need to be modified in order to reduce the likelihood of recurrence or worsening.
|
Piriformis Syndrome
|
what research (or clinical trials) is being done for Piriformis Syndrome ?
|
Within the NINDS research programs, piriformis syndrome is addressed primarily through studies associated with pain research. NINDS vigorously pursues a research program seeking new treatments for pain and nerve damage with the ultimate goal of reversing debilitating conditions such as piriformis syndrome.
|
Piriformis Syndrome
|
What is (are) Epilepsy ?
|
The epilepsies are a spectrum of brain disorders ranging from severe, life-threatening and disabling, to ones that are much more benign. In epilepsy, the normal pattern of neuronal activity becomes disturbed, causing strange sensations, emotions, and behavior or sometimes convulsions, muscle spasms, and loss of consciousness. The epilepsies have many possible causes and there are several types of seizures. Anything that disturbs the normal pattern of neuron activityfrom illness to brain damage to abnormal brain developmentcan lead to seizures. Epilepsy may develop because of an abnormality in brain wiring, an imbalance of nerve signaling chemicals called neurotransmitters, changes in important features of brain cells called channels, or some combination of these and other factors. Having a single seizure as the result of a high fever (called febrile seizure) or head injury does not necessarily mean that a person has epilepsy. Only when a person has had two or more seizures is he or she considered to have epilepsy. A measurement of electrical activity in the brain and brain scans such as magnetic resonance imaging or computed tomography are common diagnostic tests for epilepsy.
|
Epilepsy
|
What are the treatments for Epilepsy ?
|
Once epilepsy is diagnosed, it is important to begin treatment as soon as possible. For about 70 percent of those diagnosed with epilepsy, seizures can be controlled with modern medicines and surgical techniques. Some drugs are more effective for specific types of seizures. An individual with seizures, particularly those that are not easily controlled, may want to see a neurologist specifically trained to treat epilepsy. In some children, special diets may help to control seizures when medications are either not effective or cause serious side effects.
|
Epilepsy
|
What is the outlook for Epilepsy ?
|
While epilepsy cannot be cured, for some people the seizures can be controlled with medication, diet, devices, and/or surgery. Most seizures do not cause brain damage, but ongoing uncontrolled seizures may cause brain damage. It is not uncommon for people with epilepsy, especially children, to develop behavioral and emotional problems in conjunction with seizures. Issues may also arise as a result of the stigma attached to having epilepsy, which can led to embarrassment and frustration or bullying, teasing, or avoidance in school and other social settings. For many people with epilepsy, the risk of seizures restricts their independence (some states refuse drivers licenses to people with epilepsy) and recreational activities.
Epilepsy can be a life-threatening condition. Some people with epilepsy are at special risk for abnormally prolonged seizures or sudden unexplained death in epilepsy.
|
Epilepsy
|
what research (or clinical trials) is being done for Epilepsy ?
|
Scientists are studying the underlying causes of the epilepsies in children, adults, and the elderly, as well as seizures that occur following brain trauma, stroke, and brain tumors. Ongoing research is focused on developing new model systems that can be used to more quickly screen potential new treatments for the epilepsies. The identification of genes or other genetic information that may influence or cause the epilepsies may allow doctors to prevent the disorders or to predict which treatments will be most beneficial to individuals with specific types of epilepsy. Scientists also continue to study how neurotransmitters interact with brain cells to control nerve firing and how non-neuronal cells in the brain contribute to seizures. Researchers funded by the National Institutes of Health have developed a flexible brain implant that could one day be used to treat seizures. Scientists are continually improving MRI and other brain scans that may assist in diagnosing the epilepsies and identify the source, or focus, of the seizures in the brain. Other areas of study include prevention of seizures and the role of inflammation in epilepsy. Patients may enter trials of experimental drugs and surgical interventions.
More about epilepsy research
|
Epilepsy
|
What is (are) Reye's Syndrome ?
|
Reye's syndrome (RS) is primarily a children's disease, although it can occur at any age. It affects all organs of the body but is most harmful to the brain and the liver--causing an acute increase of pressure within the brain and, often, massive accumulations of fat in the liver and other organs. RS is defined as a two-phase illness because it generally occurs in conjunction with a previous viral infection, such as the flu or chicken pox. The disorder commonly occurs during recovery from a viral infection, although it can also develop 3 to 5 days after the onset of the viral illness. RS is often misdiagnosed as encephalitis, meningitis, diabetes, drug overdose, poisoning, sudden infant death syndrome, or psychiatric illness. Symptoms of RS include persistent or recurrent vomiting, listlessness, personality changes such as irritability or combativeness, disorientation or confusion, delirium, convulsions, and loss of consciousness. If these symptoms are present during or soon after a viral illness, medical attention should be sought immediately. The symptoms of RS in infants do not follow a typical pattern; for example, vomiting does not always occur. Epidemiologic evidence indicates that aspirin (salicylate) is the major preventable risk factor for Reye's syndrome. The mechanism by which aspirin and other salicylates trigger Reye's syndrome is not completely understood. A "Reye's-like" illness may occur in children with genetic metabolic disorders and other toxic disorders. A physician should be consulted before giving a child any aspirin or anti-nausea medicines during a viral illness, which can mask the symptoms of RS.
|
Reye's Syndrome
|
What are the treatments for Reye's Syndrome ?
|
There is no cure for RS. Successful management, which depends on early diagnosis, is primarily aimed at protecting the brain against irreversible damage by reducing brain swelling, reversing the metabolic injury, preventing complications in the lungs, and anticipating cardiac arrest. It has been learned that several inborn errors of metabolism mimic RS in that the first manifestation of these errors may be an encephalopathy with liver dysfunction. These disorders must be considered in all suspected cases of RS. Some evidence suggests that treatment in the end stages of RS with hypertonic IV glucose solutions may prevent progression of the syndrome.
|
Reye's Syndrome
|
What is the outlook for Reye's Syndrome ?
|
Recovery from RS is directly related to the severity of the swelling of the brain. Some people recover completely, while others may sustain varying degrees of brain damage. Those cases in which the disorder progresses rapidly and the patient lapses into a coma have a poorer prognosis than those with a less severe course. Statistics indicate that when RS is diagnosed and treated in its early stages, chances of recovery are excellent. When diagnosis and treatment are delayed, the chances for successful recovery and survival are severely reduced. Unless RS is diagnosed and treated successfully, death is common, often within a few days.
|
Reye's Syndrome
|
what research (or clinical trials) is being done for Reye's Syndrome ?
|
Much of the research on RS focuses on answering fundamental questions about the disorder such as how problems in the body's metabolism may trigger the nervous system damage characteristic of RS and what role aspirin plays in this life-threatening disorder. The ultimate goal of this research is to improve scientific understanding, diagnosis and medical treatment of RS.
|
Reye's Syndrome
|
What is (are) Generalized Gangliosidoses ?
|
The gangliosidoses are a group of inherited metabolic diseases caused by a deficiency of the different proteins needed to break down fatty substances called lipids. Excess buildup of these fatty materials (oils, waxes, steroids, and other compounds) can cause permanent damage in the cells and tissues in the brain and nervous systems, particularly in nerve cells. There are two distinct groups of the gangliosidoses, which affect males and females equally.
The GM1 gangliosidoses are caused by a deficiency of the enzyme beta-galactosidase. Signs of early infantile GM1 gangliodisosis (the most severe subtype, with onset shortly after birth) may include neurodegeneration, seizures, liver and spleen enlargement, coarsening of facial features, skeletal irregularities, joint stiffness, distended abdomen, muscle weakness, exaggerated startle response, and problems with gait. About half of affected persons develop cherry-red spots in the eye. Children may be deaf and blind by age 1.Onset of late infantile GM1 gangliosidosisis typically between ages 1 and 3 years. Signs include an inability to control movement, seizures, dementia, and difficulties with speech. Adult GM1 gangliosidosis strikes between ages 3 and 30, with symptoms that include the wasting away of muscles, cloudiness in the corneas, and dystonia (sustained moscle contractions that case twisting and repetitive movements or abnormal postures). Non-cancerous skin blemishes may develop on the lower part of the trunk of the body. Adult GM1 is usually less severe and progresses more slowly than other forms of the disorder.
The GM2 gangliosidoses include Tay-Sachs disease and its more severe form, called Sandhoff disease, both of whichresult from a deficiency of the enzyme beta-hexosaminidase. Symptoms begin by age 6 months and include progressive mental deterioration, cherry-red spots in the retina, marked startle reflex, and seizures. Children with Tay-Sachs may also have dementia, progressive loss of hearing, some paralysis, and difficulty in swallowing that may require a feeding tube. A rarer form of the disorder, which occurs in individuals in their twenties and early thirties, is characterized by an unsteady gait and progressive neurological deterioration. Additional signs of Sandhoff disease include weakness in nerve signaling that causes muscles to contract, early blindness, spasticity, muscle contractions, an abnormally enlarged head, and an enlarged liver and spleen.
|
Generalized Gangliosidoses
|
What are the treatments for Generalized Gangliosidoses ?
|
No specific treatment exists for the gangliosidoses. Anticonvulsants may initially control seizures. Other supportive treatment includes proper nutrition and hydration and keeping the airway open.
|
Generalized Gangliosidoses
|
What is the outlook for Generalized Gangliosidoses ?
|
Children with early infantile GM1 often die by age 3 from cardiac complications or pneumonia. Children with the early-onset form of Tay-Sachs disease may eventually need a feeding tube and often die by age 4 from recurring infection. Children with Sandhoff disease generally die by age 3 from respiratory infections.
|
Generalized Gangliosidoses
|
what research (or clinical trials) is being done for Generalized Gangliosidoses ?
|
The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. The NINDS is a part of the National Institutes of Health (NIH), the largest supporter of biomedical research in the world. Scientists are studying the mechanisms by which the lipids accumulating in these disorders cause harm to the body. NINDS-funded research on the gangliosidoses also includes using variations of magnetic resonance imaging to develop a biomarker (a sign that may indicate risk of a disease and improve diagnosis) to effectively evaluate brain chemistry and disease progression, and expanding the use of virus-delivered gene therapy seen in an animal model of Tay-Sachs and Sandhoff diseases for use in humans.
|
Generalized Gangliosidoses
|
What is (are) Tuberous Sclerosis ?
|
Tuberous sclerosis (TSC) is a rare genetic disease that causes benign tumors to grow in the brain and on other vital organs such as the kidneys, heart, eyes, lungs, and skin. It usually affects the central nervous system. In addition to the benign tumors that frequently occur in TSC, other common symptoms include seizures,impaired intellectual development, behavior problems, and skin abnormalities. TSC may be present at birth, but signs of the disorder can be subtle and full symptoms may take some time to develop. Three types of brain tumors are associated with TSC: cortical tubers, which generally form on the surface of the brain; subependymal nodules, which form in the walls of the ventricles (the fluid-filled cavities of the brain); and giant-cell astrocytomas, a type of tumor that can block the flow of fluids within the brain.
|
Tuberous Sclerosis
|
What are the treatments for Tuberous Sclerosis ?
|
There is no cure for TSC, although treatment is available for a number of the symptoms. Rapamycin and related drugs are not yet approved by the U.S. Food and Drug Administration (FDA) for any purpose in individuals with TSC. The FDA has approved the drug everolimus (Afinitor) to treat subependymal giant cell astrocytomas (SEGA brain tumors) and angiomyolipoma kidney tumors. Antiepileptic drugs such as vigabatrin may be used to control seizures and medications may be prescribed for behavior problems. Intervention programs, including special schooling and occupational therapy, may benefit individuals with special needs and developmental issues. Surgery, including dermabrasion and laser treatment, may be useful for treatment of skin lesions. Because TSC is a lifelong condition, individuals need to be regularly monitored by a doctor. Due to the many varied symptoms of TSC, care by a clinician experienced with the disorder is recommended.
|
Tuberous Sclerosis
|
What is the outlook for Tuberous Sclerosis ?
|
The prognosis for individuals with TSC depends on the severity of symptoms. Individuals with mild symptoms generally do well and live long productive lives, while individuals with the more severe form may have serious disabilities. In rare cases, seizures, infections, or tumors in vital organs such as the kidneys and brain can lead to severe complications and even death. However, with appropriate medical care, most individuals with the disorder can look forward to normal life expectancy.
|
Tuberous Sclerosis
|
what research (or clinical trials) is being done for Tuberous Sclerosis ?
|
The National Institute of Neurological Disorders and Stroke (NINDS) conducts TSC research in its laboratories at the National Institutes of Health (NIH) and also supports TSC research through grants to major medical institutions across the country. Scientists in one study are learning more about the genes that can cause TSC and the function of the proteins those genes produce. Another study focuses on two major brain disorders --autism and epilepsy -- that occur in children with TSC. Other scientists are trying to determine what causes skin tumors to develop in individuals with TSC and to find the molecular basis of these tumors. Scientists hope knowledge gained from their current research will improve the genetic test for TSC and lead to new avenues of treatment, methods of prevention, and, ultimately, a cure.
|
Tuberous Sclerosis
|
What is (are) Klver-Bucy Syndrome ?
|
Klver-Bucy syndrome is a rare behavioral impairment that is associated with damage to both of the anterior temporal lobes of the brain. It causes individuals to put objects in their mouths and engage in inappropriate sexual behavior. Other symptoms may include visual agnosia (inability to visually recognize objects), loss of normal fear and anger responses, memory loss, distractibility, seizures, and dementia. The disorder may be associated with herpes encephalitis and trauma, which can result in brain damage.
|
Klver-Bucy Syndrome
|
What are the treatments for Klver-Bucy Syndrome ?
|
Treatment is symptomatic and supportive, and may include drug therapy.
|
Klver-Bucy Syndrome
|
What is the outlook for Klver-Bucy Syndrome ?
|
There is no cure for Klver-Bucy syndrome. The disorder is not life-threatening, but the patient can be difficult to manage. With treatment, symptoms may slowly decline.
|
Klver-Bucy Syndrome
|
what research (or clinical trials) is being done for Klver-Bucy Syndrome ?
|
NINDS supports and conducts research on neurobehavioral disorders such as Klver-Bucy syndrome. Much of the research focuses on learning more about these disorders and finding ways to prevent and treat them.
|
Klver-Bucy Syndrome
|
What is (are) Neurological Consequences of Cytomegalovirus Infection ?
|
Cytomegalovirus (CMV) is a virus found throughout the world that infects between 50 to 80 percent of all adults in the United States by the age of 40. CMV is in the same family of viruses that causes cold sores (herpes simplex virus), infectious mononucleosis (Epstein-Barr virus), and chickenpox/shingles (varicella zoster virus). Most people who acquire CVM as children or adults display no signs of illness or have mild symptoms such as fever, fatigue, or tender lymph nodes. People with a compromised immune system may have more severe forms of infection involving the nervous system.
A hallmark of CMV infection is that the virus cycles through periods of dormancy and active infection during the life of the individual Infected persons of any age periodically shed the virus in their body fluids, such as saliva, urine, blood, tears, semen, or breast milk. CMV is most commonly transmitted when infected body fluids come in contact with the mucous membranes of an uninfected person, but the virus can also pass from mother to fetus during pregnancy.
|
Neurological Consequences of Cytomegalovirus Infection
|
What are the treatments for Neurological Consequences of Cytomegalovirus Infection ?
|
Since the virus remains in the person for life, there is no treatment to eliminate CMV infection. However, minimizing contact with infected body fluids can decrease the risk of viral transmission between individuals or from mother to fetus. Contact can be minimized by using gloves or other protective barriers when handling body fluids or contaminated materials (such as diapers or tissues), avoiding shared dishes, utensils, and other personal items, and consistent and thorough hand-washing.
Antiviral drugs (ganciclovir and others)can be used to prevent or control the symptoms of CMV infection in immunocompromised individuals or some infants with congenital infection. CMV immunoglobulin may also be used in some patients. Vaccines are in the development and human clinical trial stages, which shows that vaccines may help prevent initial CMV infection or decrease the severity of symptoms.
|
Neurological Consequences of Cytomegalovirus Infection
|
What is the outlook for Neurological Consequences of Cytomegalovirus Infection ?
|
For most people CMV infection is not a problem. However, two groups of people are at high risk of neurological or other severe symptoms that may lead to long-term effects:
- Unborn infants whose mothers have CMV infection. CMVis the most common congenital infection in the U.S. Most infants will have no permanent health consequences, but a small number will have at birth or will develop long-term neurological conditions, such as hearing loss, visual impairment, seizures, or disabilities f mental or physical function. The highest risk of these severe effects on the fetus is for women who acquire CMV infection for the first time during pregnancy. The risk is much lower for women who have had CMV infection in the past before pregnancy. - Immunocompromised individuals. CMV infection may be severe in solid organ or blood cell transplant recipients, people with untreated or end-stage HIV-AIDS, or others with altered immune function. Infection may affect the brain (encephalitis), spinal cord (myelitis), eye (retinitis), or other organs such as the lungs (pneumonia) or intestinal gract (gastritis, enteritis, or colitis). In addition, transplant recipients may develop organ rejection or graft-versus-host disease associated with CMV infection.
|
Neurological Consequences of Cytomegalovirus Infection
|
what research (or clinical trials) is being done for Neurological Consequences of Cytomegalovirus Infection ?
|
The National Institute of Neurological Disorders and Stroke (NINDS), and other institutes of the National Institutes of Health (NIH), conduct research related to CMV infection in laboratories at the NIH, and support additional research through grants to major medical institutions across the country. Much of this research focuses on finding better ways to prevent and treat CMV infection in people at risk of severe neurological consequences, especially a safe and effective CMV vaccine.
|
Neurological Consequences of Cytomegalovirus Infection
|
What is (are) Hydranencephaly ?
|
Hydranencephaly is a rare condition in which the brain's cerebral hemispheres are absent and replaced by sacs filled with cerebrospinal fluid. An infant with hydranencephaly may appear normal at birth. The infant's head size and spontaneous reflexes such as sucking, swallowing, crying, and moving the arms and legs may all seem normal. However, after a few weeks the infant usually becomes irritable and has increased muscle tone. After a few months of life, seizures and hydrocephalus (excessive accumulation of cerebrospinal fluid in the brain) may develop. Other symptoms may include visual impairment, lack of growth, deafness, blindness, spastic quadriparesis (paralysis), and intellectual deficits. Hydranencephaly is considered to be an extreme form of porencephaly (a rare disorder characterized by a cyst or cavity in the cerebral hemispheres) and may be caused by vascular infections or traumatic disorders after the 12th week of pregnancy. Diagnosis may be delayed for several months because early behavior appears to be relatively normal. Some infants may have additional abnormalities at birth including seizures, myoclonus (spasm or twitching of a muscle or group of muscles), and respiratory problems.
|
Hydranencephaly
|
What are the treatments for Hydranencephaly ?
|
There is no definitive treatment for hydranencephaly. Treatment is symptomatic and supportive. Hydrocephalus may be treated with a shunt (a surgically implanted tube that diverts fluid from one pathway to another).
|
Hydranencephaly
|
What is the outlook for Hydranencephaly ?
|
The outlook for children with hydranencephaly is generally poor, and many children with this disorder die before age 1. However, in rare cases, children with hydranencephaly may survive for several years or more.
|
Hydranencephaly
|
what research (or clinical trials) is being done for Hydranencephaly ?
|
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, thus, offers hope for new means to treat and prevent developmental brain disorders, including hydranencephaly.
|
Hydranencephaly
|
What is (are) Neurological Sequelae Of Lupus ?
|
Lupus (also called systemic lupus erythematosus) is a disorder of the immune system. Normally, the immune system protects the body against invading infections and cancers. In lupus, the immune system is over-active and produces increased amounts of abnormal antibodies that attack the body's tissues and organs. Lupus can affect many parts of the body, including the joints, skin, kidneys, lungs, heart, nervous system, and blood vessels. The signs and symptoms of lupus differ from person to person; the disease can range from mild to life threatening.
Initial symptoms of lupus may begin with a fever, vascular headaches, epilepsy, or psychoses. A striking feature of lupus is a butterfly shaped rash over the cheeks. In addition to headache, lupus can cause other neurological disorders, such as mild cognitive dysfunction, organic brain syndrome, peripheral neuropathies, sensory neuropathy, psychological problems (including personality changes, paranoia, mania, and schizophrenia), seizures, transverse myelitis, and paralysis and stroke.
|
Neurological Sequelae Of Lupus
|
What are the treatments for Neurological Sequelae Of Lupus ?
|
There is no cure for lupus. Treatment is symptomatic. With a combination of medication, rest, exercise, proper nutrition, and stress management, most individuals with lupus can often achieve remission or reduce their symptom levels. Medications used in the treatment of lupus may include aspirin and other nonsteroidal anti-inflammatory medications, antimalarials, corticosteroids, and immunosuppressive drugs.
|
Neurological Sequelae Of Lupus
|
What is the outlook for Neurological Sequelae Of Lupus ?
|
The prognosis for lupus varies widely depending on the organs involved and the intensity of the inflammatory reaction. The course of lupus is commonly chronic and relapsing, often with long periods of remission. Most individuals with lupus do not develop serious health problems and have a normal lifespan with periodic doctor visits and treatments with various drugs.
|
Neurological Sequelae Of Lupus
|
what research (or clinical trials) is being done for Neurological Sequelae Of Lupus ?
|
Investigators researching lupus seek to increase scientific understanding of the disorder and to find ways to treat, prevent, and ultimately, cure it. Several components of the National Institutes of Health support research on lupus.
|
Neurological Sequelae Of Lupus
|
What is (are) Spinal Muscular Atrophy ?
|
Spinal Muscular Atrophy (SMA) Types I, II, and III belong to a group of hereditary diseases that cause weakness and wasting of the voluntary muscles in the arms and legs of infants and children. The disorders are caused by an abnormal or missing gene known as the survival motor neuron gene 1 (SMN1), which is responsible for the production of a protein essential to motor neurons. Without this protein, lower motor neurons in the spinal cord degenerate and die. The type of SMA (I, II, or III) is determined by the age of onset and the severity of symptoms. Type I (also known as Werdnig-Hoffman disease, or infantile-onset SMA) is evident at birth or within the first few months. Symptoms include floppy limbs and trunk, feeble movements of the arms and legs, swallowing and feeding difficulties, and impaired breathing. Type II (the intermediate form) usually begins 6 and 18 months of age. Legs tend to be more impaired than arms. Children with Type II may able to sit and some may be able to stand or walk with help. Symptoms of Type III (also called Kugelberg-Welander disease) appear between 2 and 17 years of age and include difficulty running, climbing steps, or rising from a chair. The lower extremities are most often affected. Complications include scoliosis and chronic shortening of muscles or tendons around joints.
|
Spinal Muscular Atrophy
|
What are the treatments for Spinal Muscular Atrophy ?
|
There is no cure for SMA. Treatment consists of managing the symptoms and preventing complications.
|
Spinal Muscular Atrophy
|
What is the outlook for Spinal Muscular Atrophy ?
|
The prognosis is poor for babies with SMA Type I. Most die within the first two years. For children with SMA Type II, the prognosis for life expectancy or for independent standing or walking roughly correlates with how old they are when they first begin to experience symptoms - older children tend to have less severe symptoms Life expectancy is reduced but some individuals live into adolescence or young adulthood. Individuals with SMA type III may be prone to respiratory infections but with care may have a normal lifespan.
|
Spinal Muscular Atrophy
|
what research (or clinical trials) is being done for Spinal Muscular Atrophy ?
|
Between 2003 and 2012, the NINDS piloted the Spinal Muscular Atrophy Project to expedite therapeutics development for this hereditary neurodegenerative disease. The Project was designed to accelerate the research process by identifying drugs that increase the level of SMN protein in cultured cells, so that they could be used as potential leads for further drug discovery and clinical testing. Read more about the history of this pioneering effort and how it led to collaboration with several pharmaceutical and biotechnology companies.
|
Spinal Muscular Atrophy
|
What is (are) Angelman Syndrome ?
|
Angelman syndrome is a genetic disorder that causes developmental delay and neurological problems. The physician Harry Angelman first delineated the syndrome in 1965, when he described several children in his practice as having "flat heads, jerky movements, protruding tongues, and bouts of laughter." Infants with Angelman syndrome appear normal at birth, but often have feeding problems in the first months of life and exhibit noticeable developmental delays by 6 to 12 months. Seizures often begin between 2 and 3 years of age. Speech impairment is pronounced, with little to no use of words. Individuals with this syndrome often display hyperactivity, small head size, sleep disorders, and movement and balance disorders that can cause severe functional deficits. Angelman syndrome results from absence of a functional copy of the UBE3A gene inherited from the mother.
|
Angelman Syndrome
|
What are the treatments for Angelman Syndrome ?
|
There is no specific therapy for Angelman syndrome. Medical therapy for seizures is usually necessary. Physical and occupational therapies, communication therapy, and behavioral therapies are important in allowing individuals with Angelman syndrome to reach their maximum developmental potential.
|
Angelman Syndrome
|
What is the outlook for Angelman Syndrome ?
|
Most individuals with Angelman syndrome will have severe developmental delays, speech limitations, and motor difficulties. However, individuals with Angelman syndrome can have normal life spans and generally do not show developmental regression as they age. Early diagnosis and tailored interventions and therapies help improve quality of life.
|
Angelman Syndrome
|
what research (or clinical trials) is being done for Angelman Syndrome ?
|
The NINDS supports and conducts research on neurogenetic disorders such as Angelman syndrome, to develop techniques to diagnose, treat, prevent, and ultimately cure them.
|
Angelman Syndrome
|
What is (are) Pervasive Developmental Disorders ?
|
The diagnostic category of pervasive developmental disorders (PDD) refers to a group of disorders characterized by delays in the development of socialization and communication skills. Parents may note symptoms as early as infancy, although the typical age of onset is before 3 years of age. Symptoms may include problems with using and understanding language; difficulty relating to people, objects, and events; unusual play with toys and other objects; difficulty with changes in routine or familiar surroundings, and repetitive body movements or behavior patterns. Autism (a developmental brain disorder characterized by impaired social interaction and communication skills, and a limited range of activities and interests) is the most characteristic and best studied PDD. Other types of PDD include Asperger's Syndrome, Childhood Disintegrative Disorder, and Rett's Syndrome. Children with PDD vary widely in abilities, intelligence, and behaviors. Some children do not speak at all, others speak in limited phrases or conversations, and some have relatively normal language development. Repetitive play skills and limited social skills are generally evident. Unusual responses to sensory information, such as loud noises and lights, are also common.
|
Pervasive Developmental Disorders
|
What are the treatments for Pervasive Developmental Disorders ?
|
There is no known cure for PDD. Medications are used to address specific behavioral problems; therapy for children with PDD should be specialized according to need. Some children with PDD benefit from specialized classrooms in which the class size is small and instruction is given on a one-to-one basis. Others function well in standard special education classes or regular classes with additional support.
|
Pervasive Developmental Disorders
|
What is the outlook for Pervasive Developmental Disorders ?
|
Early intervention including appropriate and specialized educational programs and support services plays a critical role in improving the outcome of individuals with PDD. PDD is not fatal and does not affect normal life expectancy.
|
Pervasive Developmental Disorders
|
what research (or clinical trials) is being done for Pervasive Developmental Disorders ?
|
The NINDS conducts and supports research on developmental disabilities, including PDD. Much of this research focuses on understanding the neurological basis of PDD and on developing techniques to diagnose, treat, prevent, and ultimately cure this and similar disorders.
|
Pervasive Developmental Disorders
|
What is (are) Transient Ischemic Attack ?
|
A transient ischemic attack (TIA) is a transient stroke that lasts only a few minutes. It occurs when the blood supply to part of the brain is briefly interrupted. TIA symptoms, which usually occur suddenly, are similar to those of stroke but do not last as long. Most symptoms of a TIA disappear within an hour, although they may persist for up to 24 hours. Symptoms can include: numbness or weakness in the face, arm, or leg, especially on one side of the body; confusion or difficulty in talking or understanding speech; trouble seeing in one or both eyes; and difficulty with walking, dizziness, or loss of balance and coordination.
|
Transient Ischemic Attack
|
What are the treatments for Transient Ischemic Attack ?
|
Because there is no way to tell whether symptoms are from a TIA or an acute stroke, patients should assume that all stroke-like symptoms signal an emergency and should not wait to see if they go away. A prompt evaluation (within 60 minutes) is necessary to identify the cause of the TIA and determine appropriate therapy. Depending on a patient's medical history and the results of a medical examination, the doctor may recommend drug therapy or surgery to reduce the risk of stroke in people who have had a TIA. The use of antiplatelet agents, particularly aspirin, is a standard treatment for patients at risk for stroke. People with atrial fibrillation (irregular beating of the heart) may be prescribed anticoagulants.
|
Transient Ischemic Attack
|
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.