falan42/medcuad_data huggingface dataset:
Topic: Tay-Sachs Disease
Question: What is (are) Tay-Sachs Disease ?
Answer: Tay-Sachs disease is a inherited metabolic disease caused by the harmful buildup of lipids (fatty materials such as oils and acids) in various cells and tissues in the body. It is part of a group of genetic disorders called the GM2 gangliosidoses. Tay-Sachs and its variant form are caused by a deficiency in the enzyme hexosaminidase A. Affected children appear to develop normally until about age 6 months. Then, symptoms begin and include progressive loss of mental ability, dementia, blindness, increased startle reflex to noise, progressive loss of hearing leading to deafness, and difficulty with swallowing. Seizures may begin in the child's second year. Persons with Tay-Sachs also have "cherry-red" spots in their eyes.A much rarer form of the disorder, called late-onset Tay-Sachs disease, occurs in individuals in their twenties and early thirties and is characterized by an unsteady gait and progressive neurological deterioration. The incidence of Tay-Sachs has been particularly high among people of Eastern European and Askhenazi Jewish descent., as well as in certain French Canadians and Louisiana Cajuns. Affected individuals and carriers of Tay-Sachs disease can be identified by a blood test that measures hexosaminidase A activity. Both parents must carry the mutated gene in order to have an affected child. In these instances, there is a 25 percent chance with each pregnancy that the child will be affected with Tay-Sachs disease. Prenatal diagnosis is available if desired. A very severe form of Tay-Sachs disease is know as Sandhoff disease, which is not limited to any ethnic group.
(Source: NINDS)
Topic: Tay-Sachs Disease
Question: What are the treatments for Tay-Sachs Disease ?
Answer: Presently there is no specific treatment for Tay-Sachs disease. Anticonvulsant medicine may initially control seizures. Other supportive treatment includes proper nutrition and hydration and techniques to keep the airway open. Children may eventually need a feeding tube.
(Source: NINDS)
Topic: Tay-Sachs Disease
Question: What is the outlook for Tay-Sachs Disease ?
Answer: Even with the best of care, children with Tay-Sachs disease usually die by age 4, from recurring infection.
(Source: NINDS)
Topic: Tay-Sachs Disease
Question: what research (or clinical trials) is being done for Tay-Sachs Disease ?
Answer: 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 leading supporter of biomedical research in the world. the NINDS and other NIH Institutes supports the Lysosomal Diseases Netowrk, which addresses some of the major challenges in the diagnosis, management, and therapy of rare diseases, including the lipid storage diseases. Additional research funded by the NINDS focuses on better understanding how neurological defects arise in lipid storage disorders 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 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 biochemistry and disease progression. Other research is expanding the use of virus-delivered gene therapy seen in an animall model of Tay-Sachs disease for use in humans.
(Source: NINDS)
Topic: Rasmussen's Encephalitis
Question: What is (are) Rasmussen's Encephalitis ?
Answer: Rasmussens encephalitis is a rare, chronic inflammatory neurological disease that usually affects only one hemisphere of the brain. It usually occurs in children under the age of 10 (more rarely in adolescents and adults), and is characterized by frequent and severe seizures, loss of motor skills and speech, paralysis on one side of the body (hemiparesis), inflammation of the brain (encephalitis), and mental deterioration. Most individuals with Rasmussens encephalitis will experience frequent seizures and progressive brain damage in the affected hemisphere of the brain over the course of the first 8 to 12 months, and then enter a phase of permanent, but stable, neurological deficits. Rasmussens encephalitis has features of an autoimmune disease in which immune system cells enter the brain and cause inflammation and damage.Research is ongoing into the causes of this rare disease.
(Source: NINDS)
Topic: Rasmussen's Encephalitis
Question: What are the treatments for Rasmussen's Encephalitis ?
Answer: Anti-epileptic drugs are usually not effective in controlling seizures. Recent studies have shown some success with treatments that suppress or modulate the immune system, in particular those that use corticosteroids, intravenous immunoglobulin, or tacrolimus. Surgery to control seizures may be performed in later stages of the disease when neurological deficits stabilize. Surgical procedures, such as functional hemispherectomy and hemispherotomy, may reduce the frequency of seizures and also improve behavior and cognitive abilities.
(Source: NINDS)
Topic: Rasmussen's Encephalitis
Question: What is the outlook for Rasmussen's Encephalitis ?
Answer: The prognosis for individuals with Rasmussens encephalitis varies. Despite the advances in medical treatment, none has yet been shown to halt the progress of the disease in the long term. The disorder may lead to severe neurological deficits or it may cause only milder impairments. For some children, surgery decreases seizures. However, most individuals with Rasmussens encephalitis are left with some paralysis, cognitive deficits, and problems with speech. In some cases, the disease can progress to involve the opposite brain hemisphere.
(Source: NINDS)
Topic: Rasmussen's Encephalitis
Question: what research (or clinical trials) is being done for Rasmussen's Encephalitis ?
Answer: The National Institute of Neurological Disorders and Stroke (NINDS) conducts research related to Rasmussens encephalitis in its laboratories at the National Institutes of Health (NIH), and also 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 progressive neurological disorders, such as Rasmussens encephalitis.
(Source: NINDS)
Topic: Klippel Feil Syndrome
Question: What is (are) Klippel Feil Syndrome ?
Answer: Klippel-Feil Syndrome is a rare disorder characterized by the congenital fusion of two or more cervical (neck) vertebrae. It is caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development. The most common signs of the disorder are short neck, low hairline at the back of the head, and restricted mobility of the upper spine. The fused vertebrae can cause nerve damage and pain in the head, neck, or back. Associated abnormalities may include scoliosis (curvature of the spine), spina bifida (a birth defect of the spine), cleft palate, respiratory problems, and heart malformations. Other features may include joint pain; anomalies of the head and face, skeleton, sex organs, muscles, brain and spinal cord, arms, legs, and fingers; and difficulties hearing. Most cases are sporadic (happen on their own) but mutations in the GDF6 (growth differentiation factor 6) or GDF3 (growth differentiation factor 3) genes can cause the disorder. These genes make proteins that are involved in bone development and segmentation of the vertebrae.
(Source: NINDS)
Topic: Klippel Feil Syndrome
Question: What are the treatments for Klippel Feil Syndrome ?
Answer: Treatment for Klippel-Feil Syndrome is symptomatic and may include surgery to relieve cervical or craniocervical instability and constriction of the spinal cord, and to correct scoliosis. Physical therapy may also be useful.
(Source: NINDS)
Topic: Klippel Feil Syndrome
Question: What is the outlook for Klippel Feil Syndrome ?
Answer: The prognosis for most individuals with Klippel-Feil Syndrome is good if the disorder is treated early and appropriately. Activities that can injure the neck should be avoided.
(Source: NINDS)
Topic: Klippel Feil Syndrome
Question: what research (or clinical trials) is being done for Klippel Feil Syndrome ?
Answer: The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge abuot the brain and nervous system, and to use that knowledge to reduce the burden of neurological disease. Research supported by the NINDS includes studies to understand how the brain and nervous system normally develop and function and how they are affected by disease and trauma. These studies contribute to a greater understanding of birth defects such as Klippel-Feil Syndrome and open promising new avenues for treatment.
(Source: NINDS)
Topic: Sjgren's Syndrome
Question: What is (are) Sjgren's Syndrome ?
Answer: Sjgren's syndrome is an autoimmune disorder in which immune cells attack and destroy the glands that produce tears and saliva. Sjgren's syndrome is also associated with rheumatic disorders such as rheumatoid arthritis. The hallmark symptoms of the disorder are dry mouth and dry eyes. In addition, Sjogren's syndrome may cause skin, nose, and vaginal dryness, and may affect other organs of the body including the kidneys, blood vessels, lungs, liver, pancreas, and brain.  Sjgren's syndrome affects 1-4 million people in the United States. Most people are more than 40 years old at the time of diagnosis. Women are 9 times more likely to have Sjgren's syndrome than men.
(Source: NINDS)
Topic: Sjgren's Syndrome
Question: What are the treatments for Sjgren's Syndrome ?
Answer: There is no known cure for Sjgren's syndrome nor is there a specific treatment to restore gland secretion. Treatment is generally symptomatic and supportive. Moisture replacement therapies may ease the symptoms of dryness. Nonsteroidal anti-inflammatory drugs may be used to treat musculoskeletal symptoms. For individuals with severe complications, corticosteroids or immunosuppressive drugs may be prescribed.
(Source: NINDS)
Topic: Sjgren's Syndrome
Question: What is the outlook for Sjgren's Syndrome ?
Answer: Sjgren's syndrome can damage vital organs of the body with symptoms that may remain stable, worsen, or go into remission. Some people may experience only the mild symptoms of dry eyes and mouth, while others go through cycles of good health followed by severe disease. Many patients are able to treat problems symptomatically. Others are forced to cope with blurred vision, constant eye discomfort, recurrent mouth infections, swollen parotid glands, hoarseness, and difficulty in swallowing and eating. Debilitating fatigue and joint pain can seriously impair quality of life.
(Source: NINDS)
Topic: Sjgren's Syndrome
Question: what research (or clinical trials) is being done for Sjgren's Syndrome ?
Answer: The goals of research on disorders such as Sjgren's syndrome focus on increasing knowledge and understanding of the disorder, improving diagnostic techniques, testing interventions, and finding ways to treat, prevent, and cure the disease.
(Source: NINDS)
Topic: Gerstmann's Syndrome
Question: What is (are) Gerstmann's Syndrome ?
Answer: Gerstmann's syndrome is a cognitive impairment that results from damage to a specific area of the brain -- the left parietal lobe in the region of the angular gyrus. It may occur after a stroke or in association with damage to the parietal lobe. It is characterized by four primary symptoms: a writing disability (agraphia or dysgraphia), a lack of understanding of the rules for calculation or arithmetic (acalculia or dyscalculia), an inability to distinguish right from left, and an inability to identify fingers (finger agnosia). The disorder should not be confused with Gerstmann-Strussler-Scheinker disease, a type of transmissible spongiform encephalopathy.
                
In addition to exhibiting the above symptoms, many adults also experience aphasia, (difficulty in expressing oneself when speaking, in understanding speech, or in reading and writing).
                
There are few reports of the syndrome, sometimes called developmental Gerstmann's syndrome, in children. The cause is not known. Most cases are identified when children reach school age, a time when they are challenged with writing and math exercises. Generally, children with the disorder exhibit poor handwriting and spelling skills, and difficulty with math functions, including adding, subtracting, multiplying, and dividing. An inability to differentiate right from left and to discriminate among individual fingers may also be apparent. In addition to the four primary symptoms, many children also suffer from constructional apraxia, an inability to copy simple drawings. Frequently, there is also an impairment in reading. Children with a high level of intellectual functioning as well as those with brain damage may be affected with the disorder.
(Source: NINDS)
Topic: Gerstmann's Syndrome
Question: What are the treatments for Gerstmann's Syndrome ?
Answer: There is no cure for Gerstmann's syndrome. Treatment is symptomatic and supportive. Occupational and speech therapies may help diminish the dysgraphia and apraxia. In addition, calculators and word processors may help school children cope with the symptoms of the disorder.
(Source: NINDS)
Topic: Gerstmann's Syndrome
Question: What is the outlook for Gerstmann's Syndrome ?
Answer: In adults, many of the symptoms diminish over time. Although it has been suggested that in children symptoms may diminish over time, it appears likely that most children probably do not overcome their deficits, but learn to adjust to them.
(Source: NINDS)
Topic: Gerstmann's Syndrome
Question: what research (or clinical trials) is being done for Gerstmann's Syndrome ?
Answer: The NINDS supports research on disorders that result from damage to the brain such as dysgraphia. The NINDS and other components of the National Institutes of Health also support research on learning disabilities. Current research avenues focus on developing techniques to diagnose and treat learning disabilities and increase understanding of the biological basis of them.
(Source: NINDS)
Topic: Melkersson-Rosenthal Syndrome
Question: What is (are) Melkersson-Rosenthal Syndrome ?
Answer: Melkersson-Rosenthal syndrome is a rare neurological disorder characterized by recurring facial paralysis, swelling of the face and lips (usually the upper lip), and the development of folds and furrows in the tongue. Onset is in childhood or early adolescence. After recurrent attacks (ranging from days to years in between), swelling may persist and increase, eventually becoming permanent. The lip may become hard, cracked, and fissured with a reddish-brown discoloration. The cause of Melkersson-Rosenthal syndrome is unknown, but there may be a genetic predisposition. It can be symptomatic of Crohn's disease or sarcoidosis.
(Source: NINDS)
Topic: Melkersson-Rosenthal Syndrome
Question: What are the treatments for Melkersson-Rosenthal Syndrome ?
Answer: Treatment is symptomatic and may include medication therapies with nonsteroidal anti-inflammatory drugs (NSAIDs) and corticosteroids to reduce swelling, as well as antibiotics and immunosuppressants. Surgery may be recommended to relieve pressure on the facial nerves and to reduce swollen tissue, but its effectiveness has not been established. Massage and electrical stimulation may also be prescribed.
(Source: NINDS)
Topic: Melkersson-Rosenthal Syndrome
Question: What is the outlook for Melkersson-Rosenthal Syndrome ?
Answer: Melkersson-Rosenthal syndrome may recur intermittently after its first appearance. It can become a chronic disorder. Follow-up care should exclude the development of Crohn's disease or sarcoidosis.
(Source: NINDS)
Topic: Melkersson-Rosenthal Syndrome
Question: what research (or clinical trials) is being done for Melkersson-Rosenthal Syndrome ?
Answer: The NINDS supports research on neurological disorders such as Melkersson-Rosenthal syndrome. Much of this research is aimed at increasing knowledge of these disorders and finding ways to treat, prevent, and ultimately cure them.
(Source: NINDS)
Topic: Kearns-Sayre Syndrome
Question: What is (are) Kearns-Sayre Syndrome ?
Answer: Kearns-Sayre syndrome (KSS) is a rare neuromuscular disorder with onset usually before the age of 20 years. It is the result of abnormalities in the DNA of mitochondria - small rod-like structures found in every cell of the body that produce the energy that drives cellular functions. The mitochondrial diseases correlate with specific DNA mutations that cause problems with many of the organs and tissues in the body. KSS is characterized by progressive limitation of eye movements until there is complete immobility, accompanied by eyelid droop. It is also associated with abnormal accumulation of pigmented material on the membrane lining the eyes. Additional symptoms may include mild skeletal muscle weakness, heart block (a cardiac conduction defect), short stature, hearing loss, an inability to coordinate voluntary movements (ataxia), impaired cognitive function, and diabetes. Seizures are infrequent. Several endocrine disorders can be associated with KSS.
(Source: NINDS)
Topic: Kearns-Sayre Syndrome
Question: What are the treatments for Kearns-Sayre Syndrome ?
Answer: There is currently no effective way to treat mitochondria abnormalities in KSS. Treatment is generally symptomatic and supportive. Management of KSS involves multiple specialties depending on the organs involved. The most essential is a regular and long-term follow-up with cardiologists. Conduction problems of heart impulse like heart block may be treated with a pacemaker. Other consultations may include audiology, ophthalmology, endocrinology, neurology, and neuropsychiatry. Hearing aids may be required. There is typically no treatment for limitation in eye movement. Endocrinology abnormalities can be treated with drugs.
(Source: NINDS)
Topic: Kearns-Sayre Syndrome
Question: What is the outlook for Kearns-Sayre Syndrome ?
Answer: KSS is a slowly progressive disorder. The prognosis for individuals with KSS varies depending on the severity and the number of organs involved. Early diagnosis and periodic electrocardiogram (ECG) are important since heart block can cause death in 20 percent of patients. Early pacemaker implantation can be of great benefit and offer a longer life expectancy in many patients.
(Source: NINDS)
Topic: Kearns-Sayre Syndrome
Question: what research (or clinical trials) is being done for Kearns-Sayre Syndrome ?
Answer: The NINDS supports research on neuromuscular disorders such as KSS. The goals of this research are to increase understanding of these disorders, and to find ways to prevent, treat, and, ultimately, cure them. The most promising approach for treatment in the future will be to alter replication or destroy abnormal mitochondria.
(Source: NINDS)
Topic: Myopathy
Question: What is (are) Myopathy ?
Answer: The myopathies are neuromuscular disorders in which the primary symptom is muscle weakness due to dysfunction of muscle fiber. Other symptoms of myopathy can include include muscle cramps, stiffness, and spasm. Myopathies can be inherited (such as the muscular dystrophies) or acquired (such as common muscle cramps). Myopathies are grouped as follows: congenital myopathies: characterized by developmental delays in motor skills; skeletal and facial abnormalities are occasionally evident at birth muscular dystrophies: characterized by progressive weakness in voluntary muscles; sometimes evident at birth mitochondrial myopathies: caused by genetic abnormalities in mitochondria, cellular structures that control energy; include Kearns-Sayre syndrome, MELAS and MERRF glycogen storage diseases of muscle: caused by mutations in genes controlling enzymes that metabolize glycogen and glucose (blood sugar); include Pompe's, Andersen's and Cori's diseases myoglobinurias: caused by disorders in the metabolism of a fuel (myoglobin) necessary for muscle work; include McArdle, Tarui, and DiMauro diseases dermatomyositis: an inflammatory myopathy of skin and muscle myositis ossificans: characterized by bone growing in muscle tissue familial periodic paralysis: characterized by episodes of weakness in the arms and legs polymyositis, inclusion body myositis, and related myopathies: inflammatory myopathies of skeletal muscle neuromyotonia: characterized by alternating episodes of twitching and stiffness; and stiff-man syndrome: characterized by episodes of rigidity and reflex spasms common muscle cramps and stiffness, and tetany: characterized by prolonged spasms of the arms and legs
(Source: NINDS)
Topic: Myopathy
Question: What are the treatments for Myopathy ?
Answer: Treatments for the myopathies depend on the disease or condition and specific causes. Supportive and symptomatic treatment may be the only treatment available or necessary for some disorders. Treatment for other disorders may include drug therapy, such as immunosuppressives, physical therapy, bracing to support weakened muscles, and surgery.
(Source: NINDS)
Topic: Myopathy
Question: What is the outlook for Myopathy ?
Answer: The prognosis for individuals with a myopathy varies. Some individuals have a normal life span and little or no disability. For others, however, the disorder may be progressive, severely disabling, life-threatening, or fatal.
(Source: NINDS)
Topic: Myopathy
Question: what research (or clinical trials) is being done for Myopathy ?
Answer: The NINDS supports and conducts an extensive research program on neuromuscular disorders such as the myopathies. Much of this research is aimed at increasing scientific understanding of these disorders, and finding ways to prevent, treat, and cure them.
(Source: NINDS)
Topic: Wernicke-Korsakoff Syndrome
Question: What is (are) Wernicke-Korsakoff Syndrome ?
Answer: Wernicke's encephalopathy is a degenerative brain disorder caused by the lack of thiamine (vitamin B1). It may result from alcohol abuse, dietary deficiencies, prolonged vomiting, eating disorders, or the effects of chemotherapy. B1 deficiency causes damage to the brain's thalamus and hypothalamus. Symptoms include mental confusion, vision problems, coma, hypothermia, low blood pressure, and lack of muscle coordination (ataxia). Korsakoff syndrome (also called Korsakoff's amnesic syndrome) is a memory disorder that results from vitamin B1 deficiency and is associated with alcoholism. Korsakoff's syndrome damages nerve cells and supporting cells in the brain and spinal cord, as well as the part of the brain involved with memory. Symptoms include amnesia, tremor, coma, disorientation, and vision problems, The disorder's main features are problems in acquiring new information or establishing new memories, and in retrieving previous memories. Although Wernicke's and Korsakoff's are related disorders, some scientists believe them to be different stages of the same disorder, which is called Wernicke-Korsakoff syndrome. Wernicke's encephalopathy represents the "acute" phase of the disorder and Korsakoff's amnesic syndrome represents the disorder progressing to a "chronic" or long-lasting stage.
(Source: NINDS)
Topic: Wernicke-Korsakoff Syndrome
Question: What are the treatments for Wernicke-Korsakoff Syndrome ?
Answer: Treatment involves replacement of thiamine and providing proper nutrition and hydration. In some cases, drug therapy is also recommended.Stopping alcohol use may prevent further nerve and brain damage. In individuals with Wernicke's encephalopathy, it is very important to start thiamine replacement before beginning nutritional replenishment.
(Source: NINDS)