umarjan11/Medical-qna huggingface dataset:
Question: What are the symptoms of Dystonia 7, torsion ?

Answer: What are the signs and symptoms of Dystonia 7, torsion? The Human Phenotype Ontology provides the following list of signs and symptoms for Dystonia 7, torsion. 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 - Blepharospasm - Clumsiness - Dysphonia - Hand tremor - Oromandibular dystonia - Skeletal muscle hypertrophy - Torsion dystonia - Torticollis - Writer's cramp - 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 Pyomyositis ?

Answer: What are the signs and symptoms of Pyomyositis? The Human Phenotype Ontology provides the following list of signs and symptoms for Pyomyositis. 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 temperature regulation 90% Myalgia 90% Myositis 90% Recurrent cutaneous abscess formation 90% Leukocytosis 50% Weight loss 50% Renal insufficiency 7.5% Sepsis 7.5% Sudden cardiac death 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 is (are) proopiomelanocortin deficiency ?

Answer: Proopiomelanocortin (POMC) deficiency causes severe obesity that begins at an early age. In addition to obesity, people with this condition have low levels of a hormone known as adrenocorticotropic hormone (ACTH) and tend to have red hair and pale skin.  Affected infants are usually a normal weight at birth, but they are constantly hungry, which leads to excessive feeding (hyperphagia). The babies continuously gain weight and are severely obese by age 1. Affected individuals experience excessive hunger and remain obese for life. It is unclear if these individuals are prone to weight-related conditions like cardiovascular disease or type 2 diabetes.  Low levels of ACTH lead to a condition called adrenal insufficiency, which occurs when the pair of small glands on top of the kidneys (the adrenal glands) do not produce enough hormones. Adrenal insufficiency often results in periods of severely low blood sugar (hypoglycemia) in people with POMC deficiency, which can cause seizures, elevated levels of a toxic substance called bilirubin in the blood (hyperbilirubinemia), and a reduced ability to produce and release a digestive fluid called bile (cholestasis). Without early treatment, adrenal insufficiency can be fatal.  Pale skin that easily burns when exposed to the sun and red hair are common in POMC deficiency, although not everyone with the condition has these characteristics.
Question: What are the genetic changes related to Behet disease ?

Answer: The cause of Behet disease is unknown. The condition probably results from a combination of genetic and environmental factors, most of which have not been identified. However, a particular variation in the HLA-B gene has been strongly associated with the risk of developing Behet disease.  The HLA-B gene provides instructions for making a protein that plays an important role in the immune system. The HLA-B gene is part of a family of genes called the human leukocyte antigen (HLA) complex. The HLA complex helps the immune system distinguish the body's own proteins from proteins made by foreign invaders (such as viruses and bacteria). The HLA-B gene has many different normal variations, allowing each person's immune system to react to a wide range of foreign proteins. A variation of the HLA-B gene called HLA-B51 increases the risk of developing Behet disease. Although many people with Behet disease have the HLA-B51 variation, most people with this version of the HLA-B gene never develop the disorder. It is unknown how HLA-B51 increases the risk of developing Behet disease.  Researchers have considered many other genetic and environmental factors as possible contributors to Behet disease. Studies have examined several genes related to immune system function, although no gene except HLA-B has been definitively associated with an increased risk of Behet disease. It appears likely that environmental factors, such as certain bacterial or viral infections, play a role in triggering the disease in people who are at risk. However, the influence of genetic and environmental factors on the development of this complex disorder remains unclear.
Question: What is (are) small fiber neuropathy ?

Answer: Small fiber neuropathy is a condition characterized by severe pain attacks that typically begin in the feet or hands. As a person ages, the pain attacks can affect other regions. Some people initially experience a more generalized, whole-body pain. The attacks usually consist of pain described as stabbing or burning, or abnormal skin sensations such as tingling or itchiness. In some individuals, the pain is more severe during times of rest or at night. The signs and symptoms of small fiber neuropathy usually begin in adolescence to mid-adulthood.  Individuals with small fiber neuropathy cannot feel pain that is concentrated in a very small area, such as the prick of a pin. However, they have an increased sensitivity to pain in general (hyperalgesia) and experience pain from stimulation that typically does not cause pain (hypoesthesia). People affected with this condition may also have a reduced ability to differentiate between hot and cold. However, in some individuals, the pain attacks are provoked by cold or warm triggers.  Some affected individuals have urinary or bowel problems, episodes of rapid heartbeat (palpitations), dry eyes or mouth, or abnormal sweating. They can also experience a sharp drop in blood pressure upon standing (orthostatic hypotension), which can cause dizziness, blurred vision, or fainting.  Small fiber neuropathy is considered a form of peripheral neuropathy because it affects the peripheral nervous system, which connects the brain and spinal cord to muscles and to cells that detect sensations such as touch, smell, and pain.
Question: What is (are) CHMP2B-related frontotemporal dementia ?

Answer: CHMP2B-related frontotemporal dementia is a progressive brain disorder that affects personality, behavior, and language. The symptoms of this disorder usually become noticeable in a person's fifties or sixties, and affected people survive about 3 to 21 years after the appearance of symptoms.  Changes in personality and behavior are the most common early signs of CHMP2B-related frontotemporal dementia. These changes include inappropriate emotional responses, restlessness, loss of initiative, and neglect of personal hygiene. Affected individuals may overeat sweet foods or place non-food items into their mouths (hyperorality). Additionally, it may become difficult for affected individuals to interact with others in a socially appropriate manner. They increasingly require help with personal care and other activities of daily living.  Many people with CHMP2B-related frontotemporal dementia develop progressive problems with speech and language (aphasia). They may have trouble speaking, although they can often understand others' speech and written text. Affected individuals may also have difficulty using numbers (dyscalculia). In the later stages of the disease, many completely lose the ability to communicate.  Several years after signs and symptoms first appear, some people with CHMP2B-related frontotemporal dementia develop problems with movement. These movement abnormalities include rigidity, tremors, uncontrolled muscle tensing (dystonia), and involuntary muscle spasms (myoclonus). As the disease progresses, most affected individuals become unable to walk.
Question: What are the genetic changes related to mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes ?

Answer: MELAS can result from mutations in one of several genes, including MT-ND1, MT-ND5, MT-TH, MT-TL1, and MT-TV. These genes are found in the DNA of cellular structures called mitochondria, which convert the energy from food into a form that cells can use. Although most DNA is packaged in chromosomes within the nucleus, mitochondria also have a small amount of their own DNA, known as mitochondrial DNA or mtDNA.  Some of the genes related to MELAS provide instructions for making proteins involved in normal mitochondrial function. These proteins are part of a large enzyme complex in mitochondria that helps convert oxygen, fats, and simple sugars to energy. Other genes associated with this disorder provide instructions for making molecules called transfer RNAs (tRNAs), which are chemical cousins of DNA. These molecules help assemble protein building blocks called amino acids into full-length, functioning proteins within mitochondria.  Mutations in a particular transfer RNA gene, MT-TL1, cause more than 80 percent of all cases of MELAS. These mutations impair the ability of mitochondria to make proteins, use oxygen, and produce energy. Researchers have not determined how changes in mtDNA lead to the specific signs and symptoms of MELAS. They continue to investigate the effects of mitochondrial gene mutations in different tissues, particularly in the brain.
Question: What are the genetic changes related to Niemann-Pick disease ?

Answer: Niemann-Pick disease types A and B is caused by mutations in the SMPD1 gene. This gene provides instructions for producing an enzyme called acid sphingomyelinase. This enzyme is found in lysosomes, which are compartments within cells that break down and recycle different types of molecules. Acid sphingomyelinase is responsible for the conversion of a fat (lipid) called sphingomyelin into another type of lipid called ceramide. Mutations in SMPD1 lead to a shortage of acid sphingomyelinase, which results in reduced break down of sphingomyelin, causing this fat to accumulate in cells. This fat buildup causes cells to malfunction and eventually die. Over time, cell loss impairs function of tissues and organs including the brain, lungs, spleen, and liver in people with Niemann-Pick disease types A and B.  Mutations in either the NPC1 or NPC2 gene cause Niemann-Pick disease type C. The proteins produced from these genes are involved in the movement of lipids within cells. Mutations in these genes lead to a shortage of functional protein, which prevents movement of cholesterol and other lipids, leading to their accumulation in cells. Because these lipids are not in their proper location in cells, many normal cell functions that require lipids (such as cell membrane formation) are impaired. The accumulation of lipids as well as the cell dysfunction eventually leads to cell death, causing the tissue and organ damage seen in Niemann-Pick disease types C1 and C2.
Question: What are the treatments for Osteoarthritis ?

Answer: Doctors consider a number of factors when choosing medicines for their patients. In particular, they look at the type of pain the patient may be having and any possible side effects from the drugs. For pain relief, doctors usually start with acetaminophen because the side effects are minimal. If acetaminophen does not relieve pain, then non-steroidal anti-inflammatory drugs such as ibuprofen and naproxen may be used. Some NSAIDs are available over the counter, while more than a dozen others, including a subclass called COX-2 inhibitors, are available only with a prescription. Corticosteroids, hyaluronic acid, and topical creams are also used. Most medicines used to treat osteoarthritis have side effects, so it is important for people to learn about the medicines they take. For example, people over age 65 and those with any history of ulcers or stomach bleeding should use non-steroidal anti-inflammatory drugs, or NSAIDs, with caution. There are measures you can take to help reduce the risk of side effects associated with NSAIDs. These include taking medications with food and avoiding stomach irritants such as alcohol, tobacco, and caffeine. In some cases, it may help to take another medication along with an NSAID to coat the stomach or block stomach acids. Although these measures may help, they are not always completely effective. For more tips on how older adults can avoid medication side effects, see Side Effects in the Taking Medicines topic.
Question: What are the stages of Langerhans Cell Histiocytosis ?

Answer: Key Points
                    - There is no staging system for Langerhans cell histiocytosis (LCH).    - Treatment of LCH is based on where LCH cells are found in the body and how many body systems are affected.
                
                
                    There is no staging system for Langerhans cell histiocytosis (LCH).
                    The extent or spread of cancer is usually described as stages. There is no staging system for LCH.
                
                
                    Treatment of LCH is based on where LCH cells are found in the body and how many body systems are affected.
                    LCH is described as single-system disease or multisystem disease, depending on how many body systems are affected:          -  Single-system LCH: LCH is found in one part of an organ or body system (unifocal) or in more than one part of that organ or body system (multifocal). Bone is the most common single place for LCH to be found.    -  Multisystem LCH: LCH occurs in two or more organs or body systems or may be spread throughout the body. Multisystem LCH is less common than single-system LCH.        LCH may affect low-risk organs or high-risk organs:         -  Low-risk organs include the skin, bone, lungs, lymph nodes, gastrointestinal tract, pituitary gland, and central nervous system (CNS).    -  High-risk organs include the liver, spleen, and bone marrow.
Question: What are the symptoms of Chronic intestinal pseudoobstruction ?

Answer: What are the signs and symptoms of Chronic intestinal pseudoobstruction? The Human Phenotype Ontology provides the following list of signs and symptoms for Chronic intestinal pseudoobstruction. 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) Intestinal malrotation 50% Morphological abnormality of the central nervous system 50% Pyloric stenosis 50% Abnormality of thrombocytes 7.5% Patent ductus arteriosus 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 symptoms of Familial progressive cardiac conduction defect ?

Answer: What are the signs and symptoms of Familial progressive cardiac conduction defect? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial progressive cardiac conduction defect. 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) Arrhythmia 50% Autosomal dominant inheritance - Complete heart block with broad RS complexes - Dyspnea - Heterogeneous - Left anterior fascicular block - Left postterior fascicular block - Right bundle branch block - Sudden cardiac death - Sudden death - Syncope - 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 Cataract microcornea syndrome ?

Answer: What are the signs and symptoms of Cataract microcornea syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Cataract microcornea 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) Cataract 90% Microcornea 90% Myopia 50% Corneal dystrophy 7.5% Iris coloboma 7.5% Nystagmus 7.5% Opacification of the corneal stroma 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 symptoms of Thrombocytopenia with elevated serum IgA and renal disease ?

Answer: What are the signs and symptoms of Thrombocytopenia with elevated serum IgA and renal disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Thrombocytopenia with elevated serum IgA and renal 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) Abnormal bleeding - Glomerulonephritis - Hematuria - Increased IgA level - Thrombocytopenia - X-linked inheritance - 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 Idiopathic CD4 positive T-lymphocytopenia ?

Answer: What are the signs and symptoms of Idiopathic CD4 positive T-lymphocytopenia? The Human Phenotype Ontology provides the following list of signs and symptoms for Idiopathic CD4 positive T-lymphocytopenia. 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 - Bronchiolitis obliterans organizing pneumonia - Immunodeficiency - Lymphopenia - Recurrent otitis media - Recurrent sinusitis - 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.