Druvith/transformed_medDataset huggingface dataset:
what research (or clinical trials) is being done for Neurofibromatosis ? 
 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. NINDS researchers are working to identify signaling pathways in the nervous system, with the hope of eventually developing drugs and techniques to help diagnose and treat NF. Understanding the natural history of tumors in NF and determining possible factors that may regulate their growth patterns is another aim of NIH researchers Ongoing research continues to discover additional genes that appear to play a role in NF-related tumor suppression or growth Continuing research on these genes and their proteins is beginning to reveal how this novel family of growth regulators controls how and where tumors form and grow Researchers also hope to develop new and more effective treatments for neurofibromatosis. Several agents have been tested or are under investigation for NF2, including the monoclonal antibody, bevacizumab, which improves hearing in some individuals with NF2.Because schwannomas are particularly hard to treat tumors, NINDS researchers are developing a new treatment option, which uses a virus to kill tumor cells. Additional NINDS-funded researchers are testing novel radiation and chemotherapy regimens for NF1-related malignant tumors of the peripheral nerves.
What is (are) Aicardi-Goutieres Syndrome Disorder ? 
 Aicardi-Goutieres syndrome (AGS) is an inherited encephalopathy that affects newborn infants and usually results in severe mental and physical handicap. There are two forms of the syndrome: an early-onset form that is severe, and a late-onset form that has less impact upon neurological function. The early-onset form affects about 20 percent of all babies who have AGS. These infants are born with neurological and liver abnormalities, such as enlargement of the liver and spleen and elevated liver enzymes. Their jittery behavior and poor feeding ability mimic congenital viral infection.
                
Babies with later-onset AGS begin having symptoms after the first weeks or months of normal development, which appear as a progressive decline in head growth, weak or stiffened muscles (spasticity), and cognitive and developmental delays that range from moderate to severe. Symptoms last for several months, and include irritability, inconsolable crying, intermittent fever, seizures, and loss of developmental skills. Children may also have puffy swelling on the fingers, toes, and ears that resemble chilblains. A number of children have a noticeable startle reaction to sudden noise. For babies with the later-onset form, as symptoms lessen, there is no further worsening of the disease.
                
AGS is difficult to diagnose since many of the symptoms are similar to those of other disorders. Diagnosis is made based on the clinical symptoms of the disease, as well as characteristic brain abnormalities that can be seen in an MRI brain scan. Cerebrospinal fluid (CSF), taken using a "spinal tap," can also be tested for increased levels of a specific immune system cell (a lymphocyte), which indicates a condition known as chronic lymphocytosis. These cells are normally only elevated during infection, so that lymphocytosis without evidence of infection can be used as an indicator of AGS. CSF may also be tested for elevated levels of a substance known as interferon-gamma, which can also support a diagnosis of AGS.
                
The mutations of four different genes are associated with AGS:
                
- Aicardi-Goutieres syndrome-1 (AGS1) and AGS5 (an autosomal dominant form) are caused by a mutation in the TREX1 gene, - AGS2 is caused by a mutation in the RNASEH2B gene, - AGS3 is caused by a mutation in the RNASEH2C gene, - AGS4 is caused by a mutation in the RNASEH2A gene.
                
Most cases of AGS are inherited in an autosomal recessive manner, which means that both parents of a child with AGS must carry a single copy of the defective gene responsible for the disease. Parents do not have any symptoms of disease, but with every child they have together, there is a one in four chance that the baby will receive two copies of the defective gene and inherit AGS.
                
NOTE: AGS is distinct from the similarly named Aicardi syndrome (characterized by absence of a brain structure (corpus callosum), and spinal, skeletal, and eye abnormalities).
What are the treatments for Aicardi-Goutieres Syndrome Disorder ? 
 Depending upon the severity of symptoms, children may require chest physiotherapy and treatment for respiratory complications. To ensure adequate nutrition and caloric intake, some infants may require special accommodations for diet and feeding. Seizures may be managed with standard anticonvulsant medications. Children should be monitored for evidence of glaucoma in the first few months of life, and later for evidence of scoliosis, diabetes, and underactive thyroid.The prognosis depends upon the severity of symptoms.
What is the outlook for Aicardi-Goutieres Syndrome Disorder ? 
 The prognosis depends upon the severity of symptoms. Children with early-onset AGS have the highest risk of death. Children with the later-onset form may be left with weakness or stiffness in the peripheral muscles and arms, weak muscles in the trunk of the body, and poor head control. Almost all children with AGS have mild to severe intellectual and physical impairment.
what research (or clinical trials) is being done for Aicardi-Goutieres Syndrome Disorder ? 
 The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) support research related to AGS through grants to major medical institutions across the country. Current research is aimed at finding new methods for treating and ultimately preventing or curing AGS.
What is (are) Pseudotumor Cerebri ? 
 Pseudotumor cerebri literally means "false brain tumor." It is likely due to high pressure within the skull caused by the buildup or poor absorption of cerebrospinal fluid (CSF). The disorder is most common in women between the ages of 20 and 50. Symptoms of pseudotumor cerebri, which include headache, nausea, vomiting, and pulsating sounds within the head, closely mimic symptoms of large brain tumors.
What are the treatments for Pseudotumor Cerebri ? 
 Obesity, other treatable diseases, and some medications can cause raised intracranial pressure and symptoms of pseudotumor cerebri. A thorough medical history and physical examination is needed to evaluate these factors. If a diagnosis of pseudotumor cerebri is confirmed, close, repeated ophthalmologic exams are required to monitor any changes in vision. Drugs may be used to reduce fluid buildup and to relieve pressure. Weight loss through dieting or weight loss surgery and cessation of certain drugs (including oral contraceptives, tetracycline, and a variety of steroids) may lead to improvement. Surgery may be needed to remove pressure on the optic nerve. Therapeutic shunting, which involves surgically inserting a tube to drain CSF from the lower spine into the abdominal cavity, may be needed to remove excess CSF and relieve CSF pressure.
What is the outlook for Pseudotumor Cerebri ? 
 The disorder may cause progressive, permanent visual loss in some patients. In some cases, pseudotumor cerebri recurs.
what research (or clinical trials) is being done for Pseudotumor Cerebri ? 
 The NINDS conducts and supports research on disorders of the brain and nervous system, including pseudotumor cerebri. This research focuses primarily on increasing scientific understanding of these disorders and finding ways to prevent, treat, and cure them.
What is (are) Schilder's Disease ? 
 Schilder's disease is a rare progressive demyelinating disorder which usually begins in childhood. Schilder's disease is not the same as Addison-Schilder disease (adrenoleukodystrophy). Symptoms may include dementia, aphasia, seizures, personality changes, poor attention, tremors, balance instability, incontinence, muscle weakness, headache, vomiting, and vision and speech impairment. The disorder is a variant of multiple sclerosis.
What are the treatments for Schilder's Disease ? 
 Treatment for the disorder follows the established standards in multiple sclerosis and includes corticosteroids, beta-interferon or immunosuppressive therapy, and symptomatic treatment.
What is the outlook for Schilder's Disease ? 
 As with multiple sclerosis, the course and prognosis of Schilder's disease are unpredictable. For some individuals the disorder is progressive with a steady, unremitting course. Others may experience significant improvement and even remission. In some cases, Schilder's disease is fatal.
what research (or clinical trials) is being done for Schilder's Disease ? 
 The NINDS supports and conducts an extensive research program on demyelinating disorders such as Schilder's disease. Much of this research focuses on learning more about these disorders and finding ways to prevent, treat, and cure them.
What is (are) Tarlov Cysts ? 
 Tarlov cysts are sacs filled with cerebrospinal fluid that most often affect nerve roots in the sacrum, the group of bones at the base of the spine. These cysts (also known as meningeal or perineural cysts) can compress nerve roots, causing lower back pain, sciatica (shock-like or burning pain in the lower back, buttocks, and down one leg to below the knee), urinary incontinence, headaches (due to changes in cerebrospinal fluid pressure), constipation, sexual dysfunction, and some loss of feeling or control of movement in the leg and/or foot. Pressure on the nerves next to the cysts can also cause pain and deterioration of surrounding bone. Tarlov cysts can be diagnosed using magnetic resonance imaging (MRI); however, it is estimated that the majority of the cysts observed by MRI cause no symptoms. Tarlov cysts may become symptomatic following shock, trauma, or exertion that causes the buildup of cerebrospinal fluid. Women are at much higher risk of developing these cysts than are men.
What are the treatments for Tarlov Cysts ? 
 Tarlov cysts may be drained and shunted to relieve pressure and pain, but relief is often only temporary and fluid build-up in the cysts will recur. Corticosteroid injections may also temporarily relieve pain. Other drugs may be prescribed to treat chronic pain and depression. Injecting the cysts with fibrin glue (a combination of naturally occurring substances based on the clotting factor in blood) may provide temporary relief of pain. Some scientists believe the herpes simplex virus, which thrives in an alkaline environment, can cause Tarlov cysts to become symptomatic. Making the body less alkaline, through diet or supplements, may lessen symptoms. Microsurgical removal of the cyst may be an option in select individuals who do not respond to conservative treatments and who continue to experience pain or progressive neurological damage.
What is the outlook for Tarlov Cysts ? 
 In some instances Tarlov cysts can cause nerve pain and other pain, weakness, or nerve root compression. Acute and chronic pain may require changes in lifestyle. If left untreated, nerve root compression can cause permanent neurological damage.
what research (or clinical trials) is being done for Tarlov Cysts ? 
 The NINDS, a component of the National Institutes of Health within the U.S. Department of Health and Human Services, vigorously pursues a research program seeking new treatments to reduce and prevent pain and nerve damage.
What is (are) Multiple Sclerosis ? 
 An unpredictable disease of the central nervous system, multiple sclerosis (MS) can range from relatively benign to somewhat disabling to devastating, as communication between the brain and other parts of the body is disrupted. Many investigators believe MS to be an autoimmune disease -- one in which the body, through its immune system, launches a defensive attack against its own tissues. In the case of MS, it is the nerve-insulating myelin that comes under assault. Such assaults may be linked to an unknown environmental trigger, perhaps a virus.
                
Most people experience their first symptoms of MS between the ages of 20 and 40; the initial symptom of MS is often blurred or double vision, red-green color distortion, or even blindness in one eye. Most MS patients experience muscle weakness in their extremities and difficulty with coordination and balance. These symptoms may be severe enough to impair walking or even standing. In the worst cases, MS can produce partial or complete paralysis. Most people with MS also exhibit paresthesias, transitory abnormal sensory feelings such as numbness, prickling, or "pins and needles" sensations. Some may also experience pain. Speech impediments, tremors, and dizziness are other frequent complaints. Occasionally, people with MS have hearing loss. Approximately half of all people with MS experience cognitive impairments such as difficulties with concentration, attention, memory, and poor judgment, but such symptoms are usually mild and are frequently overlooked. Depression is another common feature of MS.
What are the treatments for Multiple Sclerosis ? 
 There is as yet no cure for MS. Many patients do well with no therapy at all, especially since many medications have serious side effects and some carry significant risks. However, three forms of beta interferon (Avonex, Betaseron, and Rebif) have now been approved by the Food and Drug Administration for treatment of relapsing-remitting MS. Beta interferon has been shown to reduce the number of exacerbations and may slow the progression of physical disability. When attacks do occur, they tend to be shorter and less severe. The FDA also has approved a synthetic form of myelin basic protein, called copolymer I (Copaxone), for the treatment of relapsing-remitting MS. Copolymer I has few side effects, and studies indicate that the agent can reduce the relapse rate by almost one third. Other FDA approved drugs to treat relapsing forms of MS in adults include teriflunomide and dimethyl fumarate. An immunosuppressant treatment, Novantrone (mitoxantrone), isapproved by the FDA for the treatment of advanced or chronic MS. The FDA has also approved dalfampridine (Ampyra) to improve walking in individuals with MS.
                
One monoclonal antibody, natalizumab (Tysabri), was shown in clinical trials to significantly reduce the frequency of attacks in people with relapsing forms of MS and was approved for marketing by the U.S. Food and Drug Administration (FDA) in 2004. However, in 2005 the drugs manufacturer voluntarily suspended marketing of the drug after several reports of significant adverse events. In 2006, the FDA again approved sale of the drug for MS but under strict treatment guidelines involving infusion centers where patients can be monitored by specially trained physicians.
                
While steroids do not affect the course of MS over time, they can reduce the duration and severity of attacks in some patients. Spasticity, which can occur either as a sustained stiffness caused by increased muscle tone or as spasms that come and go, is usually treated with muscle relaxants and tranquilizers such as baclofen, tizanidine, diazepam, clonazepam, and dantrolene. Physical therapy and exercise can help preserve remaining function, and patients may find that various aids -- such as foot braces, canes, and walkers -- can help them remain independent and mobile. Avoiding excessive activity and avoiding heat are probably the most important measures patients can take to counter physiological fatigue. If psychological symptoms of fatigue such as depression or apathy are evident, antidepressant medications may help. Other drugs that may reduce fatigue in some, but not all, patients include amantadine (Symmetrel), pemoline (Cylert), and the still-experimental drug aminopyridine. Although improvement of optic symptoms usually occurs even without treatment, a short course of treatment with intravenous methylprednisolone (Solu-Medrol) followed by treatment with oral steroids is sometimes used.
What is the outlook for Multiple Sclerosis ? 
 A physician may diagnose MS in some patients soon after the onset of the illness. In others, however, doctors may not be able to readily identify the cause of the symptoms, leading to years of uncertainty and multiple diagnoses punctuated by baffling symptoms that mysteriously wax and wane. The vast majority of patients are mildly affected, but in the worst cases, MS can render a person unable to write, speak, or walk. MS is a disease with a natural tendency to remit spontaneously, for which there is no universally effective treatment.
what research (or clinical trials) is being done for Multiple Sclerosis ? 
 The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research in laboratories at the NIH and also support additional research through grants to major medical institutions across the country. Scientists continue their extensive efforts to create new and better therapies for MS. One of the most promising MS research areas involves naturally occurring antiviral proteins known as interferons. Beta interferon has been shown to reduce the number of exacerbations and may slow the progression of physical disability. When attacks do occur, they tend to be shorter and less severe. In addition, there are a number of treatments under investigation that may curtail attacks or improve function. Over a dozen clinical trials testing potential therapies are underway, and additional new treatments are being devised and tested in animal models.
                
In 2001, the National Academies/Institute of Medicine, a Federal technical and scientific advisory agency, prepared a strategic review of MS research. To read or download the National Academies/Institute of Medicine report, go to: "Multiple Sclerosis: Current Status and Strategies for the Future."
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.
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.
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.
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.
What is (are) Thyrotoxic Myopathy ? 
 Thyrotoxic myopathy is a neuromuscular disorder that may accompany hyperthyroidism (Graves' disease, caused by overproduction of the thyroid hormone thyroxine). Symptoms may include muscle weakness, myalgias (muscle tenderness), wasting of the pelvic girdle and shoulder muscles, fatigue, and/or heat intolerance. Thyroid myopathy may be associated with rhabdomyolysis (acute muscle breakdown), damage to the muscles that control eye movement, and temporary, but severe, attacks of muscle weakness that are associated with low blood potassium levels (known as periodic paralysis).
What are the treatments for Thyrotoxic Myopathy ? 
 Treatment involves restoring normal levels of thyroid hormone and may include thyroid drugs, radioactive iodine, and sometimes partial or complete surgical removal of the thyroid.
What is the outlook for Thyrotoxic Myopathy ? 
 With treatment, muscle weakness may improve or be reversed.
what research (or clinical trials) is being done for Thyrotoxic Myopathy ? 
 The NINDS supports a broad range of research on neuromuscular disorders such as thyrotoxic myopathy. Much of this research is aimed at learning more about these disorders and finding ways to prevent and treat them.
What is (are) Neuroacanthocytosis ? 
 Neuroacanthocytosis refers to a group of genetic conditions that are characterized by movement disorders and acanthocytosis (abnormal, spiculated red blood cells). Four syndromes are classified as neuroacanthocytosis: Chorea-acanthocytosis, McLeod syndrome, Huntington's disease-like 2 (HDL2), and panthothenate kinase-associated neurodegeneration (PKAN). Acanthocytosis may not always be observed in HDL2 and PKAN. These disorders are caused by different genetic mutations, and the signs and symptoms vary, but usually include chorea (involuntary, dance-like movements), parkinsonism (slowness of movement), dystonia (abnormal body postures), and problems walking. There may also be muscle weakness, involuntary movements of the face and tongue, tongue/lip biting (which is mostly characteristic of Chorea-acanthocytosis), as well as difficulty with speech and eating, cognitive impairment, psychiatric symptoms, and seizures. Individuals with McLeod syndrome often have cardiac problems. Many features of these disorders are due to degeneration of the basal ganglia, a part of the brain that controls movement. Additional disorders that are also known have neurologic symptoms, acanthocytosis, and either lipoprotein disorders or systemic findings. The diagnosis of neuroacanthocytosis is typically based on the symptoms and clinical observation, a review of family history, and the evaluation of specific laboratory and imaging studies.
What are the treatments for Neuroacanthocytosis ? 
 There are currently no treatments to prevent or slow the progression of neuroacanthocytosis and treatment is symptomatic and supportive. Medications that block dopamine, such as some of the antipsychotics, may decrease the involuntary movements. Botulinum toxin injections usually improve symptoms of dystonia. A feeding tube may be needed for individuals with feeding difficulties to maintain proper nutrition. Seizures may be treated with a variety of anticonvulsants, and antidepressants may also be appropriate for some individuals. Speech, occupational, and physical therapy may also be beneficial.