sarnsrun/medquadmini huggingface dataset:
Question:
What are the treatments for Schimke immunoosseous dysplasia ?

Answer:
How might Schimke immunoosseous dysplasia be treated? Treatment of Schimke immunoosseous dysplasia (SIOD) is based on addressing individual symptoms as they develop.  Renal transplantation can treat the renal disease, and bone marrow transplantation has been done to treat the immunodeficiency.  Blood thinning medications can transiently improve blood flow through the atherosclerotic arteries but do not provide enduring relief from cerebral ischemia.  Treatment with acyclovir and some antibacterial agents has been beneficial for preventing of reducing the frequency of opportunistic infections.  More detailed information about treatment for SIOD can be found on the GeneReview's Web site. Click on the GeneReview link to read more.
Question:
What is (are) Hydranencephaly ?

Answer:
Hydranencephaly is a rare condition in which the brain's cerebral hemispheres are absent and replaced by sacs filled with cerebrospinal fluid (CSF). Affected infants may appear and act normal at birth, but irritability and hypertonia often develop within a few weeks. Other signs and symptoms may include seizures, hydrocephalus, visual impairment, lack of growth, deafness, blindness, paralysis, and intellectual disabilities. Prognosis is typically poor with many affected children dying before one year of age. In rare cases, children may survive for several years or more. It has been suspected to be an inherited condition, although some researchers believe it may be caused by prenatal blockage of the carotid artery where it enters the cranium. Treatment is generally symptomatic and supportive; hydrocephalus may be treated with a shunt.
Question:
What are the treatments for Hydranencephaly ?

Answer:
How might hydranencephaly be treated? Unfortunately, there is no definitive treatment for hydranencephaly. Management of the condition typically focuses on the specific signs and symptoms present in the affected individual and is mostly supportive. Hydrocephalus (the buildup of too much cerebral spinal fluid in the brain) may be treated with a shunt (a surgically implanted tube that helps to drain fluid from the brain).
Question:
What are the symptoms of Campomelia Cumming type ?

Answer:
What are the signs and symptoms of Campomelia Cumming type? The Human Phenotype Ontology provides the following list of signs and symptoms for Campomelia Cumming type. 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 the ribs 90% Bowing of the long bones 90% Brachydactyly syndrome 90% Cleft palate 90% Clubbing of toes 90% Cystic hygroma 90% Dolichocephaly 90% Micromelia 90% Multicystic kidney dysplasia 90% Oligohydramnios 90% Polycystic kidney dysplasia 90% Prematurely aged appearance 90% Skeletal dysplasia 90% Abnormal vertebral ossification 50% Aplasia/Hypoplasia of the lungs 50% Hepatomegaly 50% Hydrops fetalis 50% Sacrococcygeal pilonidal abnormality 50% Abnormality of the intestine 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Coarse facial features 7.5% Lymphedema 7.5% Autosomal recessive inheritance - Pancreatic cysts - Polycystic liver disease - Polysplenia - Short stature - 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) Tay-Sachs disease ?

Answer:
Tay-Sachs disease is a rare inherited disorder that causes progressive destruction of nerve cells in the brain and spinal cord. Tay-Sachs is caused by the absence of a vital enzyme called hexosaminidase-A (Hex-A). Without Hex-A, a fatty substance, or lipid, called GM2 ganglioside accumulates abnormally in cells, especially in the nerve cells of the brain. This ongoing accumulation causes progressive damage to the cells. Tay-Sachs disease is inherited in an autosomal recessive pattern.
Question:
What are the symptoms of Tay-Sachs disease ?

Answer:
What are the signs and symptoms of Tay-Sachs disease? The most common form of Tay-Sachs disease begins in infancy. Infants with this disorder typically appear normal until the age of 3 to 6 months, when development slows and muscles used for movement weaken. Affected infants lose motor skills such as turning over, sitting, and crawling. As the disease progresses, infants develop seizures, vision and hearing loss, mental retardation, and paralysis. An eye abnormality called a cherry-red spot, which can be identified with an eye examination, is characteristic of this disorder. Children with this severe form of Tay-Sachs disease usually live only into early childhood. Other forms of Tay-Sachs disease are much rarer. Signs and symptoms can begin in childhood, adolescence, or adulthood and are usually milder than those seen with the infantile form of Tay-Sachs disease. As in the infantile form, mental abilities and coordination are affected. Characteristic features include muscle weakness, loss of muscle coordination (ataxia) and other problems with movement, speech problems, and mental illness. These signs and symptoms vary widely among people with late-onset forms of Tay-Sachs disease. The Human Phenotype Ontology provides the following list of signs and symptoms for Tay-Sachs 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) Abnormality of movement 90% Abnormality of the macula 90% Developmental regression 90% EEG abnormality 90% Hearing impairment 90% Hemiplegia/hemiparesis 90% Hyperreflexia 90% Incoordination 90% Macrocephaly 90% Seizures 90% Hepatomegaly 50% Hypertonia 50% Muscular hypotonia 50% Myotonia 50% Optic atrophy 50% Recurrent respiratory infections 50% Splenomegaly 50% Apathy - Aspiration - Autosomal recessive inheritance - Blindness - Cherry red spot of the macula - Dementia - Exaggerated startle response - GM2-ganglioside accumulation - Infantile onset - Poor head control - Psychomotor deterioration - 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 Tay-Sachs disease ?

Answer:
What causes Tay-Sachs disease? Tay-Sachs disease is caused by mutations in the HEXA gene. The HEXA gene provides instructions for making part of an enzyme called beta-hexosaminidase A, which plays a critical role in the brain and spinal cord. This enzyme is located in lysosomes, which are structures in cells that break down toxic substances and act as recycling centers. Within lysosomes, beta-hexosaminidase A helps break down a fatty substance called GM2 ganglioside. Mutations in the HEXA gene disrupt the activity of beta-hexosaminidase A, which prevents the enzyme from breaking down GM2 ganglioside. As a result, this substance accumulates to toxic levels, particularly in neurons in the brain and spinal cord. Progressive damage caused by the buildup of GM2 ganglioside leads to the destruction of these neurons, which causes the signs and symptoms seen in Tay-Sachs disease,
Question:
Is Tay-Sachs disease inherited ?

Answer:
How is Tay-Sachs disease inherited? This condition is inherited in an autosomal recessive pattern, which means two copies of the gene in each cell are altered. Most often, the parents of an individual with an autosomal recessive disorder are carriers of one copy of the altered gene but do not show signs and symptoms of the disorder.
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:
Is Fuchs endothelial corneal dystrophy inherited ?

Answer:
How is Fuchs endothelial corneal dystrophy inherited? The inheritance of Fuchs dystrophy is not straight forward. In some cases, Fuchs dystrophy appears to be inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. When this condition is caused by a mutation in the COL8A2 gene (which is the early-onset form of the disease), it is inherited in an autosomal dominant pattern. In addition, an autosomal dominant inheritance pattern is seen in some situations in which the condition is caused by changes in an unknown gene. However, in many cases, the inheritance pattern is unknown. Some cases result from new mutations in a gene and occur in people with no history of the disorder in their family. Due to the complex nature of the inheritance of this condition, we strongly recommend you discuss your concerns with a genetics professional.
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 are the symptoms of Muckle-Wells syndrome ?

Answer:
What are the signs and symptoms of Muckle-Wells syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Muckle-Wells 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) Arthralgia 90% Arthritis 90% Broad foot 90% Cranial nerve paralysis 90% Hepatomegaly 90% Splenomegaly 90% Abdominal pain 50% Nephropathy 50% Nephrotic syndrome 50% Urticaria 50% Abnormality of temperature regulation 7.5% Abnormality of the genital system 7.5% Abnormality of the nose 7.5% Abnormality of the palate 7.5% Abnormality of the voice 7.5% Anemia 7.5% Camptodactyly of finger 7.5% Glaucoma 7.5% Hernia of the abdominal wall 7.5% Ichthyosis 7.5% Macrocephaly 7.5% Myalgia 7.5% Optic atrophy 7.5% Pes cavus 7.5% Polyneuropathy 7.5% Restrictive lung disease 7.5% Short stature 7.5% Skeletal muscle atrophy 7.5% Vasculitis 7.5% Abnormality of the skin - Autosomal dominant inheritance - Conjunctivitis - Elevated erythrocyte sedimentation rate - Episodic fever - Hearing impairment - Infantile onset - Leukocytosis - Progressive sensorineural hearing impairment - Recurrent aphthous stomatitis - Renal amyloidosis - Renal insufficiency - 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) 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 symptoms of Gorham's disease ?

Answer:
What are the signs and symptoms of Gorham's disease? Most cases of Gorham's disease are discovered before the age of 40. Symptoms vary among affected people and depend on the area of the body involved. The most commonly involved sites are the skull, jaw, shoulder, rib cage, and pelvis. The degree of complications ranges from mild to severe, or even life-threatening. In some cases, affected people may rapidly develop pain and swelling in the affected area, or a fracture on the affected site. Others may experience a dull pain or ache, limitation of motion, or generalized weakness that builds over time. Some people don't have any symptoms. Complications from Gorham's disease may occur when fluids build-up in the space between the membrane that surround each lung and line the chest cavity (pleural effusion). This can have serious consequences, including loss of protein, malnutrition, and respiratory distress and failure. The Human Phenotype Ontology provides the following list of signs and symptoms for Gorham's 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) Autosomal dominant inheritance - Cystic angiomatosis of bone - 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.