fenil210/Med-Lamma huggingface dataset:
What is the outlook for Sandhoff Disease ?
The prognosis for individuals with Sandhoff disease is poor. Death usually occurs by age 3 and is generally caused by respiratory infections. + NINDS + Sandhoff Disease
what research (or clinical trials) is being done for Sandhoff 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. The NINDS is a part of the National Institutes of Health, the largest supporter of biomedical research in the world. The NINDS, along with other NIH Institutes, supports the Lysosomal Disease Network, a 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 funded by the NINDS focuses on better understanding of how neurological deficits rise in lipid storage diseases and on the development of new treatments targeting disease mechanisms, including gene therapies, cell-based therapies, and pharmacological approaches. NINDS funded research on the gangliosidoses includes 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 biochemistry 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. + NINDS + Sandhoff Disease
What is (are) Moebius Syndrome ?
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. + NINDS + Moebius Syndrome
What are the treatments for Moebius Syndrome ?
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. + NINDS + Moebius Syndrome
What is the outlook for Moebius Syndrome ?
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. + NINDS + Moebius Syndrome
what research (or clinical trials) is being done for Moebius Syndrome ?
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. + NINDS + Moebius Syndrome
What is (are) Stroke ?
A stroke occurs when the blood supply to part of the brain is suddenly interrupted or when a blood vessel in the brain bursts, spilling blood into the spaces surrounding brain cells. Brain cells die when they no longer receive oxygen and nutrients from the blood or there is sudden bleeding into or around the brain. The symptoms of a stroke include sudden numbness or weakness, especially on one side of the body; sudden confusion or trouble speaking or understanding speech; sudden trouble seeing in one or both eyes; sudden trouble with walking, dizziness, or loss of balance or coordination; or sudden severe headache with no known cause. There are two forms of stroke: ischemic - blockage of a blood vessel supplying the brain, and hemorrhagic - bleeding into or around the brain. + NINDS + Stroke
What are the treatments for Stroke ?
Generally there are three treatment stages for stroke: prevention, therapy immediately after the stroke, and post-stroke rehabilitation. Therapies to prevent a first or recurrent stroke are based on treating an individual's underlying risk factors for stroke, such as hypertension, atrial fibrillation, and diabetes. Acute stroke therapies try to stop a stroke while it is happening by quickly dissolving the blood clot causing an ischemic stroke or by stopping the bleeding of a hemorrhagic stroke. Post-stroke rehabilitation helps individuals overcome disabilities that result from stroke damage. Medication or drug therapy is the most common treatment for stroke. The most popular classes of drugs used to prevent or treat stroke are antithrombotics (antiplatelet agents and anticoagulants) and thrombolytics. + NINDS + Stroke
What is the outlook for Stroke ?
Although stroke is a disease of the brain, it can affect the entire body. A common disability that results from stroke is complete paralysis on one side of the body, called hemiplegia. A related disability that is not as debilitating as paralysis is one-sided weakness or hemiparesis. Stroke may cause problems with thinking, awareness, attention, learning, judgment, and memory. Stroke survivors often have problems understanding or forming speech. A stroke can lead to emotional problems. Stroke patients may have difficulty controlling their emotions or may express inappropriate emotions. Many stroke patients experience depression. Stroke survivors may also have numbness or strange sensations. The pain is often worse in the hands and feet and is made worse by movement and temperature changes, especially cold temperatures.
                
Recurrent stroke is frequent; about 25 percent of people who recover from their first stroke will have another stroke within 5 years. + NINDS + Stroke
what research (or clinical trials) is being done for Stroke ?
The National Institute of Neurological Disorders and Stroke (NINDS) conducts stroke research and clinical trials at its laboratories and clinics at the National Institutes of Health (NIH), and through grants to major medical institutions across the country. Currently, NINDS researchers are studying the mechanisms of stroke risk factors and the process of brain damage that results from stroke. Basic research has also focused on the genetics of stroke and stroke risk factors. Scientists are working to develop new and better ways to help the brain repair itself to restore important functions. New advances in imaging and rehabilitation have shown that the brain can compensate for function lost as a result of stroke. + NINDS + Stroke
What is (are) Porencephaly ?
Porencephaly is an extremely rare disorder of the central nervous system in which a cyst or cavity filled with cerebrospinal fluid develops in the brain. It is usually the result of damage from stroke or infection after birth (the more common type), but it can also be caused by abnormal development before birth (which is inherited and less common). Diagnosis is usually made before an infant reaches his or her first birthday. Symptoms of porencephaly include delayed growth and development, spastic hemiplegia (slight or incomplete paralysis), hypotonia (low muscle tone), seizures (often infantile spasms), and macrocephaly (large head) or microcephaly (small head). Children with porencephaly may have poor or absent speech development, epilepsy, hydrocephalus (accumulation of fluid in the brain), spastic contractures (shrinkage or shortening of the muscles), and cognitive impairment. + NINDS + Porencephaly
What are the treatments for Porencephaly ?
Treatment may include physical therapy, medication for seizures, and the placement of a shunt in the brain to remove excess fluid in the brain. + NINDS + Porencephaly
What is the outlook for Porencephaly ?
The prognosis for children with porencephaly varies according to the location and extent of the cysts or cavities. Some children with this disorder develop only minor neurological problems and have normal intelligence, while others may be severely disabled and die before their second decade of life. + NINDS + Porencephaly
what research (or clinical trials) is being done for Porencephaly ?
The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research related to porencephaly in laboratories at the NIH and also support additional research through grants to major medical institutions across the country. Much of this research explores the complex mechanisms of normal brain development. The knowledge gained from these fundamental studies will provide a foundation for developing ways to prevent porecephaly and the other cephalic disorders. + NINDS + Porencephaly
What is (are) Megalencephaly ?
Megalencephaly, also called macrencephaly, is a condition in which an infant or child has an abnormally large, heavy, and usually malfunctioning brain. By definition, the brain weight is greater than average for the age and gender of the child. Head enlargement may be evident at birth or the head may become abnormally large in the early years of life. Megalencephaly is thought to be related to a disturbance in the regulation of cell production in the brain. In normal development, neuron proliferation - the process in which nerve cells divide to form new generations of cells - is regulated so that the correct number of cells is produced in the proper place at the appropriate time. In a megalencephalic brain, too many cells are produced either during development or progressively as part of another disorder, such as one of the neurofibromatoses or leukodystrophies. Symptoms of megalencephaly include delayed development, seizures, and corticospinal (brain cortex and spinal cord) dysfunction. Megalencephaly affects males more often than females. Unilateral megalencephaly or hemimegalencephaly is a rare condition that is characterized by the enlargement of one side of the brain. Children with this disorder may have a large, asymmetrical head accompanied by seizures, partial paralysis, and impaired cognitive development. Megalencephaly is different from macrocephaly (also called megacephaly or megalocephaly), which describes a big head, and which doesnt necessarily indicate abnormality. Large head size is passed down through the generations in some families. + NINDS + Megalencephaly
What are the treatments for Megalencephaly ?
There is no standard treatment for megalencephaly. Treatment will depend upon the disorder with which the megalencephaly is associated and will address individual symptoms and disabilities. + NINDS + Megalencephaly
What is the outlook for Megalencephaly ?
The prognosis for infants and children with megalencephaly depends upon the underlying cause and the associated neurological disorders. The prognosis for children with hemimegalencephaly is poor. + NINDS + Megalencephaly
what research (or clinical trials) is being done for Megalencephaly ?
The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research related to megalencephaly in laboratories at the NIH and also support additional research through grants to major medical institutions across the country. Much of this research explores the complex mechanisms of normal brain development. The knowledge gained from these fundamental studies will provide a foundation for developing ways to prevent megalencephaly and the other cephalic disorders. + NINDS + Megalencephaly
What is (are) Hydromyelia ?
Hydromyelia refers to an abnormal widening of the central canal of the spinal cord that creates a cavity in which cerebrospinal fluid (commonly known as spinal fluid) can accumulate. As spinal fluid builds up, it may put abnormal pressure on the spinal cord and damage nerve cells and their connections. Hydromyelia is sometimes used interchangeably with syringomyelia, the name for a condition that also involves cavitation in the spinal cord. In hydromyelia, the cavity that forms is connected to the fourth ventricle in the brain, and is almost always associated in infants and children with hydrocephalus or birth defects such as Chiari Malformation II and Dandy-Walker syndrome. Syringomyelia, however, features a closed cavity and occurs primarily in adults, the majority of whom have Chiari Malformation type 1 or have experienced spinal cord trauma. Symptoms, which may occur over time, include weakness of the hands and arms, stiffness in the legs; and sensory loss in the neck and arms. Some individuals have severe pain in the neck and arms. Diagnosis is made by magnetic resonance imaging (MRI), which reveals abnormalities in the anatomy of the spinal cord.. + NINDS + Hydromyelia
What are the treatments for Hydromyelia ?
Generally, physicians recommend surgery for children with hydromyelia if they have moderate or severe neurological deficits. Surgical treatment re-establishes the normal flow of spinal fluid. + NINDS + Hydromyelia
What is the outlook for Hydromyelia ?
Surgery may permanently or temporarily relieve symptoms, but it can also cause a number of severe complications. In rare cases, hydromyelia may resolve on its own without any medical intervention. + NINDS + Hydromyelia
what research (or clinical trials) is being done for Hydromyelia ?
The National Institute of Neurological Disorders and Stroke (NINDS) conducts research related to hydromyelia in its clinics and laboratories at The National Institutes of Health (NIH) and supports additional research through grants to major research institutions across the country. Much of this research focuses on finding better ways to prevent, treat, and ultimately cure abnormalities of the spinal cord such as hydromyelia. + NINDS + Hydromyelia
What is (are) Joubert Syndrome ?
Joubert syndrome is a rare brain malformation characterized by the absence or underdevelopment of the cerebellar vermis- an area of the brain that controls balance and coordination -- as well as a malformed brain stem (molar tooth sign). The most common features of Joubert syndrome in infants include abnormally rapid breathing (hyperpnea), decreased muscle tone (hypotonia), abnormal eye movements, impaired intellectual development, and the inability to coordinate voluntary muscle movements (ataxia). Physical deformities may be present, such as extra fingers and toes (polydactyly), cleft lip or palate, and tongue abnormalities. Kidney and liver abnormalities can develop, and seizures may also occur. Many cases of Joubert syndrome appear to be sporadic (not inherited). In most other cases, Joubert syndrome is inherited in an autosomal recessive manner (meaning both parents must have a copy of the mutation) via mutation in at least 10 different genes, including NPHP1, AHI1, and CEP290. + NINDS + Joubert Syndrome
What are the treatments for Joubert Syndrome ?
Treatment for Joubert syndrome is symptomatic and supportive. Infant stimulation and physical, occupational, and speech therapy may benefit some children. Infants with abnormal breathing patterns should be monitored. Screening for progressive eye, liver, and kidney complications associated with Joubert-related disorders should be performed on a regular basis. + NINDS + Joubert Syndrome
What is the outlook for Joubert Syndrome ?
The prognosis for infants with Joubert syndrome depends on whether or not the cerebellar vermis is partially developed or entirely absent, as well as on the extent and severity of other organ involvement, such as the kidneys and liver. Some children have a mild form of the disorder, with minimal motor disability and good mental development, while others may have severe motor disability, moderate impaired mental development, and multi-organ impairments. + NINDS + Joubert Syndrome
what research (or clinical trials) is being done for Joubert Syndrome ?
The NINDS supports research on the development of the nervous system and the cerebellum. This research is critical for increasing our understanding of Joubert syndrome, and for developing methods of treatment and prevention. NINDS, in conjunction with the NIH Office of Rare Disorders, sponsored a symposium on Joubert syndrome in 2002. Research priorities for the disorder were outlined at this meeting. + NINDS + Joubert Syndrome
What is (are) Vasculitis Syndromes of the Central and Peripheral Nervous Systems ?
Vasculitis is an inflammation of blood vessels, which includes the veins, arteries, and capillaries. Inflammation occurs with infection or is thought to be due to a faulty immune system response. It also can be caused by other immune system disease, an allergic reaction to medicines or toxins, and by certain blood cancers. Vasculitic disorders can cause problems in any organ system, including the central (CNS) and peripheral (PNS) nervous systems. Vasculitis disorders, or syndromes, of the CNS and PNS are characterized by the presence of inflammatory cells in and around blood vessels, and secondary narrowing or blockage of the blood vessels that nourish the brain, spinal cord, or peripheral nerves.
                
A vasculitic syndrome may begin suddenly or develop over time. Symptoms include headaches, especially a headache that doesnt go away; fever, rapid weight loss; confusion or forgetfulness leading to dementia; swelling of the brain, pain while chewing or swallowing; paralysis or numbness, usually in the arms or legs; and visual disturbances, such as double vision, blurred vision, or blindness
                
Some of the better understood vasculitis syndromes are temporal arteritis (also called giant cell arteritis or cranial arteritis--a chronic inflammatory disorder of large blood vessels) and Takayasus disease, which affects larger aortas and may cause stoke. + NINDS + Vasculitis Syndromes of the Central and Peripheral Nervous Systems
What are the treatments for Vasculitis Syndromes of the Central and Peripheral Nervous Systems ?
Treatment for a vasculitis syndrome depends upon the specific diagnosis, which can be difficult, as some diseases have similar symptoms of vasculitis. Most of the syndromes respond well to steroid drugs, such as prednisolone. Some may also require treatment with an immunosuppressive drug, such as cyclophosphamide. Aneurysms involved with vasculitis can be treated surgfically. + NINDS + Vasculitis Syndromes of the Central and Peripheral Nervous Systems
What is the outlook for Vasculitis Syndromes of the Central and Peripheral Nervous Systems ?
The prognosis is dependent upon the specific syndrome, however, some of the syndromes are fatal if left untreated. + NINDS + Vasculitis Syndromes of the Central and Peripheral Nervous Systems
what research (or clinical trials) is being done for Vasculitis Syndromes of the Central and Peripheral Nervous Systems ?
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. Several NINDS-funded investigators are studying blood vessel damage and cerebral blood flow as it relates to stroke. The NINDS also funds research on vascular cognitive impairment, which is an important contributor to aging-related cognitive decline and is the result of impaired performance of the brain's small blood vessels. Additionally, the NINDS and other institutes of the National Institutes of Health (NIH) conduct research relating to vasculitis syndromes in laboratories at the NIH and also support vasculitis research through grants to major medical institutions across the country. The NINDS supports The Vasculitis Clinical Research Consortium (VCRC), a network of academic medical centers, patient support organizations, and clinical research resources dedicated to conducting clinical research and improving the care of individuals with various vasculitis disorders. + NINDS + Vasculitis Syndromes of the Central and Peripheral Nervous Systems
What is (are) Repetitive Motion Disorders ?
Repetitive motion disorders (RMDs) are a family of muscular conditions that result from repeated motions performed in the course of normal work or daily activities. RMDs include carpal tunnel syndrome, bursitis, tendonitis, epicondylitis, ganglion cyst, tenosynovitis, and trigger finger. RMDs are caused by too many uninterrupted repetitions of an activity or motion, unnatural or awkward motions such as twisting the arm or wrist, overexertion, incorrect posture, or muscle fatigue. RMDs occur most commonly in the hands, wrists, elbows, and shoulders, but can also happen in the neck, back, hips, knees, feet, legs, and ankles. The disorders are characterized by pain, tingling, numbness, visible swelling or redness of the affected area, and the loss of flexibility and strength. For some individuals, there may be no visible sign of injury, although they may find it hard to perform easy tasks Over time, RMDs can cause temporary or permanent damage to the soft tissues in the body -- such as the muscles, nerves, tendons, and ligaments - and compression of nerves or tissue. Generally, RMDs affect individuals who perform repetitive tasks such as assembly line work, meatpacking, sewing, playing musical instruments, and computer work. The disorders may also affect individuals who engage in activities such as carpentry, gardening, and tennis. + NINDS + Repetitive Motion Disorders
What are the treatments for Repetitive Motion Disorders ?
Treatment for RMDs usually includes reducing or stopping the motions that cause symptoms. Options include taking breaks to give the affected area time to rest, and adopting stretching and relaxation exercises. Applying ice to the affected area and using medications such as pain relievers, cortisone, and anti-inflammatory drugs can reduce pain and swelling. Splints may be able to relieve pressure on the muscles and nerves. Physical therapy may relieve the soreness and pain in the muscles and joints. In rare cases, surgery may be required to relieve symptoms and prevent permanent damage. Some employers have developed ergonomic programs to help workers adjust their pace of work and arrange office equipment to minimize problems. + NINDS + Repetitive Motion Disorders
What is the outlook for Repetitive Motion Disorders ?
Most individuals with RMDs recover completely and can avoid re-injury by changing the way they perform repetitive movements, the frequency with which they perform them, and the amount of time they rest between movements. Without treatment, RMDs may result in permanent injury and complete loss of function in the affected area. + NINDS + Repetitive Motion Disorders
what research (or clinical trials) is being done for Repetitive Motion Disorders ?
Much of the on-going research on RMDs is aimed at prevention and rehabilitation. The National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) funds research on RMDs. + NINDS + Repetitive Motion Disorders