Druvith/medqa1 huggingface dataset:
Question:  What is (are) Pyridoxine-dependent epilepsy ?
Answer: Pyridoxine-dependent epilepsy is a condition that involves seizures beginning in infancy or, in some cases, before birth. Those affected typically experience prolonged seizures lasting several minutes (status epilepticus). These seizures involve muscle rigidity, convulsions, and loss of consciousness (tonic-clonic seizures). Anticonvulsant drugs, which are usually given to control seizures, are ineffective in people with pyridoxine-dependent epilepsy. Instead, people with this type of seizure are medically treated with large daily doses of pyridoxine (a type of vitamin B6 found in food). Mutations in the ALDH7A1 gene cause pyridoxine-dependent epilepsy. This gene is inherited in an autosomal recessive fashion.
Question:  What are the symptoms of Pyridoxine-dependent epilepsy ?
Answer: What are the signs and symptoms of Pyridoxine-dependent epilepsy? Those affected by pyridoxine-dependent epilepsy typically experience prolonged seizures lasting several minutes (status epilepticus). These seizures involve muscle rigidity, convulsions, and loss of consciousness (tonic-clonic seizures). Additional features of pyridoxine-dependent epilepsy include low body temperature (hypothermia), poor muscle tone (dystonia) soon after birth, and irritability before a seizure episode. In rare instances, children with this condition do not have seizures until they are 1 to 3 years old.  If left untreated, people with this condition can develop severe brain dysfunction (encephalopathy). Even though seizures can be controlled with pyridoxine, neurological problems such as developmental delay and learning disorders may still occur. The Human Phenotype Ontology provides the following list of signs and symptoms for Pyridoxine-dependent epilepsy. 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 metabolism/homeostasis 90% Abnormality of movement 90% Cognitive impairment 90% EEG abnormality 90% Neurological speech impairment 90% Seizures 90% Muscular hypotonia 50% Cerebral cortical atrophy 7.5% Hepatomegaly 7.5% Strabismus 7.5% Ventriculomegaly 7.5% Autosomal recessive inheritance - Delayed speech and language development - Generalized myoclonic seizures - Generalized tonic-clonic seizures - Intellectual disability - Neonatal respiratory distress - Prenatal movement abnormality - Respiratory distress - Status epilepticus - 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 Pyridoxine-dependent epilepsy ?
Answer: What causes pyridoxine-dependent epilepsy? Mutations in the ALDH7A1 gene cause pyridoxine-dependent epilepsy. This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. The ALDH7A1 gene provides instructions for making an enzyme called -aminoadipic semialdehyde (-AASA) dehydrogenase, also known as antiquitin. This enzyme is involved in the breakdown of the protein building block (amino acid) lysine in the brain. When antiquitin is deficient, a molecule that interferes with vitamin B6 function builds up in various tissues. Pyridoxine plays a role in many processes in the body, such as the breakdown of amino acids and the productions of chemicals that transmit signals in the brain (neurotransmitters). It is unclear how a lack of pyridoxine causes the seizures that are characteristic of this condition. Some individuals with pyridoxine-dependent epilepsy do not have identified mutations in the ALDH7A1 gene. In these cases, the cause of the condition is unknown.
Question:  What are the treatments for Pyridoxine-dependent epilepsy ?
Answer: How might pyridoxine-dependent epilepsy be treated? Anticonvulsant drugs, which are usually given to control seizures, are ineffective in people with pyridoxine-dependent epilepsy. Instead, people with this type of seizure are medically treated with large daily doses of pyridoxine (a type of vitamin B6 found in food). Recent studies have focused on using a lysine-restricted diet in addition to pyridoxine. Preliminary results suggest that this treatment has the potential to help control seizures and improve developmental outcomes in children with pyridoxine-dependent epilepsy.
Question:  What is (are) Ankylosing spondylitis ?
Answer: Ankylosing spondylitis (AS) is a type of chronic, inflammatory arthritis that mainly affects the spine. It usually begins with inflammation of the joints between the pelvic bones and spine, gradually spreading to the joints between the vertebrae. Signs and symptoms usually begin in adolescence or early adulthood and may include back pain and stiffness. Back movement gradually becomes more limited as the vertebrae fuse together. The condition may also affect the shoulders; ribs; hips; knees; and feet; as well as the eyes; bowel; and very rarely, the heart and lungs. AS is likely caused by a combination of genetic and environmental factors; variations in several genes are thought to affect the risk to develop AS. In most cases, treatment involves exercise and medications to relieve pain and inflammation.
Question:  Is Ankylosing spondylitis inherited ?
Answer: Is ankylosing spondylitis inherited? Although ankylosing spondylitis (AS) can affect more than one person in a family, it is not a purely genetic disease. While genes seem to play a role, the exact cause of AS is not known. It is considered to be multifactorial, which means that multiple genetic and environmental factors likely interact to affect a person's risk to develop AS. Most of these factors have not been identified. Inheriting a genetic variation that has been associated with AS does not mean a person will develop AS. Currently, it is not possible to predict the exact likelihood that the children of an affected person will develop the disease. You can find more information about the genetics of AS from Genetics Home Reference, the U.S National Library of Medicine's Web site for consumer information about genetic conditions and the genes or chromosomes related to those conditions.
Question:  What are the treatments for Ankylosing spondylitis ?
Answer: How might ankylosing spondylitis be treated? The main goal of treatment for people with ankylosing spondylitis (AS) is to maximize long-term quality of life. This may involve easing symptoms of pain and stiffness; retaining function; preventing complications (such as contractures); and minimizing the effects of associated conditions. Education, exercise, and medications are all very important in managing AS. An exercise program is recommended for all affected people, and some may need individual physical therapy. Affected people are encouraged to speak with their health care provider before instituting any changes to an exercise regime. Video demonstrations of exercises tailored for ankylosing spondylitis are available for viewing through the National Ankylosing Spondylitis Society in the UK. Medications may include nonsteroidal anti-inflammatory drugs (NSAIDs); pain relievers; sulfasalazine; and anti-tumor necrosis factor drugs. Steroid injections may be helpful for some people. Most people don't need surgery, but it may be indicated when there is severe, persistent pain or severe limitation in mobility and quality of life. Smoking creates additional problems for people with AS, so affected people who smoke should quit. More detailed information about the treatment of ankylosing spondylitis is available on Medscape's Web site. You may need to register to view the article, but registration is free.
Question:  What are the symptoms of Cone-rod dystrophy 6 ?
Answer: What are the signs and symptoms of Cone-rod dystrophy 6? The Human Phenotype Ontology provides the following list of signs and symptoms for Cone-rod dystrophy 6. 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 - Childhood onset - Cone/cone-rod dystrophy - Peripheral visual field loss - Reduced visual acuity - 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 symptoms of Mucopolysaccharidosis type VI ?
Answer: What are the signs and symptoms of Mucopolysaccharidosis type VI? The Human Phenotype Ontology provides the following list of signs and symptoms for Mucopolysaccharidosis type VI. 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 epiphysis morphology 90% Abnormality of the nasal alae 90% Coarse facial features 90% Limitation of joint mobility 90% Mucopolysacchariduria 90% Opacification of the corneal stroma 90% Otitis media 90% Short stature 90% Sinusitis 90% Thick lower lip vermilion 90% Abnormality of the ribs 50% Genu valgum 50% Hearing impairment 50% Hernia 50% Kyphosis 50% Short neck 50% Splenomegaly 50% Abnormality of the heart valves 7.5% Abnormality of the tongue 7.5% Cognitive impairment 7.5% Visual impairment 7.5% Anterior wedging of L1 - Anterior wedging of L2 - Autosomal recessive inheritance - Broad ribs - Cardiomyopathy - Cervical myelopathy - Depressed nasal bridge - Dermatan sulfate excretion in urine - Disproportionate short-trunk short stature - Dolichocephaly - Dysostosis multiplex - Epiphyseal dysplasia - Flared iliac wings - Glaucoma - Hepatomegaly - Hip dysplasia - Hirsutism - Hydrocephalus - Hypoplasia of the odontoid process - Hypoplastic acetabulae - Hypoplastic iliac wing - Inguinal hernia - Joint stiffness - Lumbar hyperlordosis - Macrocephaly - Macroglossia - Metaphyseal irregularity - Metaphyseal widening - Ovoid vertebral bodies - Prominent sternum - Recurrent upper respiratory tract infections - Split hand - Umbilical hernia - 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) Wolman disease ?
Answer: Wolman disease is a type of lysosomal storage disorder. It is an inherited condition that causes a buildup of lipids (fats) in body organs and calcium deposits in the adrenal glands. Common symptoms in infants include enlarged liver and spleen, poor weight gain, low muscle tone, jaundice, vomiting, diarrhea, developmental delay, anemia, and poor absorption of nutrients from food. Wolman disease is caused by mutations in the LIPA gene. It is inherited in an autosomal recessive manner. The condition is severe and life-threatening, however new therapies, such as bone marrow transplantation, have shown promise in improving the outlook of children with this disease. Enzyme replacement therapy is also being developed.
Question:  What are the symptoms of Wolman disease ?
Answer: What are the signs and symptoms of Wolman disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Wolman 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) Abdominal pain 90% Cognitive impairment 90% Hepatic failure 90% Hepatomegaly 90% Hyperkeratosis 90% Malabsorption 90% Nausea and vomiting 90% Anemia 50% Ascites 50% Atherosclerosis 50% Congenital hepatic fibrosis 50% Multiple lipomas 50% Splenomegaly 50% Weight loss 50% Abnormality of temperature regulation 7.5% Abnormality of the adrenal glands 7.5% Cirrhosis 7.5% Esophageal varix 7.5% Pruritus 7.5% Reduced consciousness/confusion 7.5% Adrenal calcification - Autosomal recessive inheritance - Bone-marrow foam cells - Death in infancy - Diarrhea - Failure to thrive - Hepatic fibrosis - Hepatosplenomegaly - Hypercholesterolemia - Protuberant abdomen - Pulmonary hypertension - Steatorrhea - Vacuolated lymphocytes - Vomiting - 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 Wolman disease ?
Answer: How can I find additional comprehensive information on the treatment of Wolman disease? You can find relevant journal articles on Wolman syndrome and its treatment through a service called PubMed, a searchable database of medical literature. Information on finding an article and its title, authors, and publishing details is listed here. Some articles are available as a complete document, while information on other studies is available as a summary abstract. To obtain the full article, contact a medical/university library (or your local library for interlibrary loan), or order it online using the following link. Using "Wolman syndrome[ti] treatment" as your search term should locate articles. To narrow your search, click on the Limits tab under the search box and specify your criteria for locating more relevant articles. Click here to view a search. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed   The National Library of Medicine (NLM) Web site has a page for locating libraries in your area that can provide direct access to these journals (print or online). The Web page also describes how you can get these articles through interlibrary loan and Loansome Doc (an NLM document-ordering service). You can access this page at the following link http://nnlm.gov/members/. You can also contact the NLM toll-free at 888-346-3656 to locate libraries in your area.
Question:  What is (are) Idiopathic neutropenia ?
Answer: Idiopathic neutropenia is an acquired form of severe chronic neutropenia whose cause is unknown. Neutropenia is a blood condition that causes a reduced number or complete absence of neutrophils, a type of white blood cell that is responsible for much of the body's protection against infection. Symptoms include fever, moth sores, and other types of infections. Neutropenia idiopathic may occur in children and adults. Frequency and severity of infections appear to be directly related to neutrophil count; while clinical problems in individual patients may vary, in general, those patients with more severe neutropenia have more frequent infections. Most patients respond well to granulocyte-colony stimulating factor (G-CSF). Long-term treatment is usually required.
Question:  What are the symptoms of Idiopathic neutropenia ?
Answer: What are the signs and symptoms of Idiopathic neutropenia? The Human Phenotype Ontology provides the following list of signs and symptoms for Idiopathic neutropenia. 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) Acute myeloid leukemia 7.5% Autosomal dominant inheritance - Neutropenia - 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 symptoms of Ectrodactyly and ectodermal dysplasia without cleft lip/palate ?
Answer: What are the signs and symptoms of Ectrodactyly and ectodermal dysplasia without cleft lip/palate? The Human Phenotype Ontology provides the following list of signs and symptoms for Ectrodactyly and ectodermal dysplasia without cleft lip/palate. 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 teeth - Autosomal dominant inheritance - Ectodermal dysplasia - Hypotrichosis - Split foot - Split hand - 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 symptoms of Cleidorhizomelic syndrome ?
Answer: What are the signs and symptoms of Cleidorhizomelic syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Cleidorhizomelic 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) Abnormality of the clavicle 90% Brachydactyly syndrome 90% Clinodactyly of the 5th finger 90% Single transverse palmar crease 50% Autosomal dominant inheritance - Rhizomelia - Short middle phalanx of the 5th finger - 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 symptoms of Spermatogenesis arrest ?
Answer: What are the signs and symptoms of Spermatogenesis arrest? The Human Phenotype Ontology provides the following list of signs and symptoms for Spermatogenesis arrest. 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 metabolism/homeostasis - Autosomal dominant inheritance - Autosomal recessive inheritance - Azoospermia - Recurrent spontaneous abortion - 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.