Ahmed062646/NLP_Medora_Datasets huggingface dataset:
Question: What are the treatments for Tay-Sachs disease ?
Answer: How might children with Tay-Sachs disease be treated? Although several attempts have been made at purified enzyme replacement therapy for children with Tay-Sachs disease, none has been successful. Cellular infusions and even bone marrow transplantation have been attempted with no evidence of benefit. Because no specific treatment is available for Tay-Sachs disease, treatment is directed at the symptoms and major associated conditions. Treatment is supportive and aimed at providing adequate nutrition and hydration. The airway must be protected. Seizures can be controlled initially with conventional anticonvulsant medications such as benzodiazepines, phenytoins, and/or barbiturates, but the progressive nature of the disease may require alteration of dosage or medication. Infectious diseases should be managed. In advanced disease, good bowel movement should be maintained and severe constipation should be avoided. Good hydration, food additives, stool softeners, laxatives, and other measures should be employed to avoid severe constipation.
Question: What are the symptoms of Kleiner Holmes syndrome ?
Answer: What are the signs and symptoms of Kleiner Holmes syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kleiner Holmes syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Sandal gap 90% Clinodactyly of the 5th finger 50% Autosomal recessive inheritance - Broad hallux - Hallux varus - Preaxial hand polydactyly - Syndactyly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question: What is (are) Fuchs endothelial corneal dystrophy ?
Answer: Fuchs endothelial corneal dystrophy (FECD) is an eye disease. It affects the thin layer of cells that line the back part of the cornea. This layer is called the endothelium. The disease occurs when these cells slowly start to die off. The cells help pump excess fluid out of the cornea. As more and more cells are lost, fluid begins to build up in the cornea, causing swelling and a cloudy cornea. There are several forms of the disease according to the age of onset of the symptoms and the cause. The early-onset form is very rare and is known as Fuchs endothelial corneal dystrophy 1 (or early-onset Fuchs endothelial corneal dystrophy) and it is caused by a change (mutation) in the COL8A2 gene. Late-onset Fuchs endothelial corneal dystrophies are common and include: Fuchs endothelial corneal dystrophy 2 (caused by a mutation in an unknown gene located in chromosome 13) Fuchs endothelial corneal dystrophy 3 (may be caused by TCF4 gene mutations) Fuchs endothelial corneal dystrophy 4 (caused by a mutation in the SLC4A11 gene) Fuchs endothelial corneal dystrophy 5 (caused by a mutation in an unknown gene located in chromosome 15) Fuchs endothelial corneal dystrophy 6 (caused by a mutation in the ZEB1 gene) Fuchs endothelial corneal dystrophy 7 (caused by a mutation in an unknown gene located in chromosome 9) Fuchs endothelial corneal dystrophy 8 (caused by heterozygous mutation in the AGBL1 gene). Early in the disease, patients typically do not have symptoms. In the late-onset forms, the symptoms start around 50 or 60 years and include discomfort and painful episodes of recurrent corneal wounds and hazy vision. Over time, discomfort may diminish but severe impairment of visual acuity, and even blindness and cataracts in elderly patients, may be observed. Once the vision has worsened, the recommended treatment is a penetrating graft which has excellent results in most cases.
Question: What is (are) Neuroleptic malignant syndrome ?
Answer: Neuroleptic malignant syndrome is a rare neurological condition that is caused by an adverse reaction to neuroleptic (tranquilizer) or antipsychotic drugs. These drugs are commonly prescribed for the treatment of schizophrenia and other neurological, mental, or emotional disorders. Affected people may experience high fever, muscle stiffness, sweating, unstable blood pressure, altered mental status, and autonomic dysfunction. In most cases, the condition develops within the first 2 weeks of treatment with the drug; however, it may develop any time during the therapy period. The exact underlying cause of neuroleptic malignant syndrome is unknown. In some cases, more than one family member can be affected which suggests there may be a genetic component. Upon diagnosis of the condition, the neuroleptic or antipsychotic drug is generally discontinued under a physician's supervision. Medications and/or other interventions may also be recommended to manage symptoms.
Question: What are the symptoms of Charcot-Marie-Tooth disease type 2G ?
Answer: What are the signs and symptoms of Charcot-Marie-Tooth disease type 2G? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 2G. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Onion bulb formation 7.5% Areflexia - Autosomal recessive inheritance - Axonal degeneration/regeneration - Decreased motor nerve conduction velocity - Decreased number of peripheral myelinated nerve fibers - Distal amyotrophy - Distal muscle weakness - Distal sensory impairment - Flexion contracture - Neonatal onset - Pes cavus - Spinal deformities - Split hand - Vocal cord paresis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question: What is (are) Muckle-Wells syndrome ?
Answer: Muckle-Wells syndrome is an autoinflammatory disease, and the intermediate form of cryopyrin-associated periodic syndrome (CAPS). Signs and symptoms may include recurrent episodes of fever, skin rash, joint pain, abdominal pain, and pinkeye; progressive sensorineural deafness; and amyloidosis. It is caused by mutations in the NLRP3 gene and is inherited in an autosomal dominant manner. Treatment includes a medication called Anakinra during acute episodes.
Question: What is (are) Gorham's disease ?
Answer: Gorham's disease is a rare bone disorder that is characterized by bone loss (osteolysis), often associated with swelling or abnormal blood vessel growth (angiomatous proliferation). Bone loss can occur in just one bone, or spread to soft tissue and adjacent bones. It may affect any part of the skeleton, but most commonly involves the skull, shoulder, and pelvis. The cause of Gorham's disease is currently unknown. Most cases occur randomly. Treatment is based on the signs and symptoms present in each affected person, and most commonly involves surgery and/or radiation therapy. In some cases, Gorham's disease improves without treatment (spontaneous remission).
Question: What are the treatments for Gorham's disease ?
Answer: How might Gorham disease be treated? No specific therapy exists for people with Gorham's disease. Certain treatments may be effective in some, but not others. Several different methods are often used before finding one that is effective. In some cases, treatment may not be necessary. Most people require intense treatment, especially if the disease has spread to other areas of the body or if there is extensive involvement in the spine and skull. Treatment options include radiation therapy, steroids, and/or surgery that may involve bone grafting. Other treatments might include biphosphonates (such as pamidronate or zoledronic acid) and alpha-2b interferon. These treatments have led to improvement of symptoms in some cases. More research is necessary to determine the long-term safety and effectiveness of these therapies in people with Gorham's disease. All treatments (pharmacological and surgical) are all still considered to be experimental since there have been no studies done to examine the effectiveness of anything used to date. In general, no single treatment has been proven effective in stopping the progression of the disease.
Question: What is (are) Fumarase deficiency ?
Answer: Fumarase deficiency is an inherited condition that primarily affects the nervous system, especially the brain. Affected infants may have microcephaly, abnormal brain structure, severe developmental delay, weak muscle tone (hypotonia), failure to thrive, seizures, and/or distinctive facial features. Other signs and symptoms may include hepatosplenomegaly, an excess of red blood cells (polycythemia), and/or or deficiency of white blood cells (leukopenia). Affected individuals usually survive only a few months, but a few have lived into early adulthood. This condition is caused by mutations in the FH gene and is inherited in an autosomal recessive manner. No effective treatment is currently available.
Question: What causes Fumarase deficiency ?
Answer: What causes fumarase deficiency? Mutations in the FH gene cause fumarase deficiency. The FH gene provides instructions for making an enzyme called fumarase, which participates in a series of reactions allowing cells to use oxygen and generate energy. Mutations in the FH gene disrupt the enzyme's ability to do its job. Disruption of the process that generates energy for cells is particularly harmful to cells in the developing brain, thus resulting in the signs and symptoms of fumarase deficiency.
Question: What are the treatments for Fumarase deficiency ?
Answer: How might fumarase deficiency be treated? There is currently no effective treatment for fumarase deficiency. Nutritional intervention may be appropriate for children with feeding difficulties. Physical therapy and wheelchairs can also be useful for some individuals.
Question: What is (are) Cone-rod dystrophy ?
Answer: Cone-rod dystrophies (CRDs) are a group of inherited eye disorders that affect both the cone and rod cells of the retina (photosenstitive receptor cells). In contrast to rod-cone dystrophies, individuals experience deterioration of the cone cells more severely than the rod cells. Initial signs and symptoms typically include decreased visual acuity when looking straight ahead (central vision loss); loss of color perception; and an abnormal sensitivity to light (photophobia). These signs are usually followed by progressive loss of peripheral vision and night blindness. Most cases occur due to mutations in any one of several genes, and CRDs can be inherited as autosomal recessive, autosomal dominant, X-linked or mitochondrial (maternally-inherited) traits. CRDs are usually non-syndromic, but they may also be part of several syndromes. Currently, there is no therapy that stops progression of the disease or restores vision; management aims at slowing the process, treating complications and helping individuals cope with the social and psychological impact of blindness.
Question: What are the symptoms of Cone-rod dystrophy ?
Answer: What are the signs and symptoms of Cone-rod dystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Cone-rod dystrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of retinal pigmentation 90% Nyctalopia 90% Photophobia 90% Abnormality of color vision 50% Visual impairment 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question: What are the treatments for Cone-rod dystrophy ?
Answer: How might cone-rod dystrophy be treated? Currently, there is no therapy that stops the evolution of cone-rod dystrophy or restores vision. There are a few treatment options, such as light avoidance and the use of low-vision aids that may help to slow down the degenerative process. It is important that people with cone-rod dystrophy recieve support and resources to help them cope with the social and psychological impact of vision loss.
Question: What is (are) Parkinson disease ?
Answer: Parkinson disease belongs to a group of conditions called movement disorders. The four main symptoms are tremor, or trembling in hands, arms, legs, jaw, or head; rigidity, or stiffness of the limbs and trunk; bradykinesia, or slowness of movement; and postural instability, or impaired balance. These symptoms usually begin gradually and worsen with time. As they become more pronounced, patients may have difficulty walking, talking, or completing other simple tasks. Not everyone with one or more of these symptoms has Parkinson disease, as the symptoms sometimes appear in other diseases as well. Parkinson disease affects about 1 to 2 percent of people over the age of 60 years and the chance of developing Parkinson disease increases as we age. Although some Parkinson disease cases appear to be hereditary most cases are sporadic and occur in people with no apparent history of the disorder in their family. When three or more people are affected in a family, especially if they are diagnosed at an early age (under 50 years) there may be a gene making this family more likely to develop the condition. Currently, seven genes that cause some form of Parkinson's disease have been identified. Mutations (changes) in three known genes called SNCA (PARK1),UCHL1 (PARK 5), and LRRK2 (PARK8) and another mapped gene (PARK3) have been reported in families with dominant inheritance. Mutations in three known genes, PARK2 (PARK2), PARK7 (PARK7), and PINK1 (PARK6) have been found in affected individuals who had siblings with the condition but whose parents did not have Parkinson's disease (recessive inheritance). There is some research to suggest that these genes are also involved in early-onset Parkinson's disease (diagnosed before the age of 30) or in dominantly inherited Parkinson's disease but it is too early yet to be certain. However, in most cases inheriting a mutation will not cause someone to develop Parkinson's disease because there may be additional genes and environmental factors determining who will get the condition, when they get it and how it affects them.
Question: What are the symptoms of Parkinson disease ?
Answer: What are the signs and symptoms of Parkinson disease? A number of disorders can cause symptoms similar to those of Parkinson disease. People with symptoms that resemble Parkinson disease but that result from other causes are sometimes said to have parkinsonism. Some of these disorders are listed below. Postencephalitic parkinsonism Drug-induced parkinsonism Toxin-induced parkinsonism Arteriosclerotic parkinsonism Parkinsonism-dementia complex of Guam Post-traumatic parkinsonism Essential tremor Normal pressure hydrocephalus Progressive supranuclear palsy Corticobasal degeneration Multiple system atrophy Dementia with Lewy bodies More information on each of these conditions is available in the National Institute of Neurological Disorders and Stroke (NINDS) publication, Parkinson's Disease: Hope Through Research. Parkinsonian symptoms may also appear in patients with other, clearly distinct neurological disorders such as Wilson disease, Huntington disease, Alzheimer disease, spinocerebellar ataxias, and Creutzfeldt-Jakob disease. Each of these disorders has specific features that help to distinguish them from Parkinson disease. The Human Phenotype Ontology provides the following list of signs and symptoms for Parkinson disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Dysautonomia 7.5% Hallucinations 7.5% Bradykinesia - Constipation - Dementia - Depression - Dysarthria - Dysphagia - Dystonia - Insidious onset - Lewy bodies - Mask-like facies - Neuronal loss in central nervous system - Parkinsonism - Personality changes - Postural instability - Progressive - Resting tremor - Rigidity - Short stepped shuffling gait - Sleep disturbance - Substantia nigra gliosis - Urinary urgency - Weak voice - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question: What causes Parkinson disease ?
Answer: What causes Parkinson disease? Parkinson disease occurs when the nerve cells in the brain that make dopamine, a chemical messenger which transmits signals within the brain to produce smooth physical movements, are slowly destroyed. Without dopamine, the nerve cells in the part of the brain known as the substantia nigra cannot properly send messages. This leads to progressive loss of muscle function. Exactly why these brain cells waste away is unknown. Recent studies have shown that people with Parkinson disease also experience damage to the nerve endings that produce the neurotransmitter norepinephrine. Norepinephrine, which is closely related to dopamine, is the main chemical messenger of the sympathetic nervous system, the part of the nervous system that controls the automatic functions of the body, including pulse and blood pressure. The loss of norepinephrine may explain some of the non-motor features seen in Parkinson disease, including fatigue and problems with blood pressure regulation. More detailed information about the cause of Parkinson disease is available through an information page developed by the National Institute of Neurological Disorders and Stroke (NINDS). Click here to view this information.
Question: Is Parkinson disease inherited ?
Answer: Is Parkinson disease inherited? Most cases of Parkinson disease are classified as sporadic and occur in people with no apparent history of the disorder in their family. Although the cause of these cases remains unclear, sporadic cases probably result from a complex interaction of environmental and genetic factors. Additionally, certain drugs may cause Parkinson-like symptoms. Approximately 15 percent of people with Parkinson disease have a family history of the disorder. These familial cases are caused by mutations in the LRRK2, PARK2, PARK7, PINK1, or SNCA gene, or by alterations in genes that have not yet been identified. Mutations in some of these genes may also play a role in cases that appear to be sporadic. It is not fully understood how mutations in the LRRK2, PARK2, PARK7, PINK1, or SNCA gene cause Parkinson disease. Some mutations appear to disturb the cell machinery that breaks down (degrades) unwanted proteins. As a result, un-degraded proteins accumulate, leading to the impairment or death of dopamine-producing neurons. Other mutations may involve mitochondria, the energy-producing structures within cells. As a byproduct of energy production, mitochondria make unstable molecules, called free radicals, that can damage the cell. Normally, the cell neutralizes free radicals, but some gene mutations may disrupt this neutralization process. As a result, free radicals may accumulate and impair or kill dopamine-producing neurons. In some families, alterations in the GBA, SNCAIP, or UCHL1 gene appear to modify the risk of developing Parkinson disease. Researchers have identified some genetic changes that may reduce the risk of developing the disease, while other gene alterations seem to increase the risk.
Question: How to diagnose Parkinson disease ?
Answer: How is Parkinson disease diagnosed? There are currently no blood or laboratory tests that have been proven to help diagnose sporadic cases of Parkinson disease. The diagnosis is generally made after careful evaluation of medical history, current symptoms, and exclusion of other conditions. The clinical findings of tremor, rigidity, and bradykinesia are highly suggestive of Parkinson disease. The genetic cause of some forms of Parkinson disease has been identified. In those cases, genetic testing may be utilized to identify affected family members.