umarjan11/Medical-qna huggingface dataset:
Question: What is (are) McLeod neuroacanthocytosis syndrome ?

Answer: McLeod neuroacanthocytosis syndrome is primarily a neurological disorder that occurs almost exclusively in boys and men. This disorder affects movement in many parts of the body. People with McLeod neuroacanthocytosis syndrome also have abnormal star-shaped red blood cells (acanthocytosis). This condition is one of a group of disorders called neuroacanthocytoses that involve neurological problems and abnormal red blood cells.  McLeod neuroacanthocytosis syndrome affects the brain and spinal cord (central nervous system). Affected individuals have involuntary movements, including jerking motions (chorea), particularly of the arms and legs, and muscle tensing (dystonia) in the face and throat, which can cause grimacing and vocal tics (such as grunting and clicking noises). Dystonia of the tongue can lead to swallowing difficulties. Seizures occur in approximately half of all people with McLeod neuroacanthocytosis syndrome. Individuals with this condition may develop difficulty processing, learning, and remembering information (cognitive impairment). They may also develop psychiatric disorders, such as depression, bipolar disorder, psychosis, or obsessive-compulsive disorder.  People with McLeod neuroacanthocytosis syndrome also have problems with their muscles, including muscle weakness (myopathy) and muscle degeneration (atrophy). Sometimes, nerves that connect to muscles atrophy (neurogenic atrophy), leading to loss of muscle mass and impaired movement. Individuals with McLeod neuroacanthocytosis syndrome may also have reduced sensation and weakness in their arms and legs (peripheral neuropathy). Life-threatening heart problems such as irregular heartbeats (arrhythmia) and a weakened and enlarged heart (dilated cardiomyopathy) are common in individuals with this disorder.  The signs and symptoms of McLeod neuroacanthocytosis syndrome usually begin in mid-adulthood. Behavioral changes, such as lack of self-restraint, the inability to take care of oneself, anxiety, depression, and changes in personality may be the first signs of this condition. While these behavioral changes are typically not progressive, the movement and muscle problems and intellectual impairments tend to worsen with age.
Question: What are the genetic changes related to small fiber neuropathy ?

Answer: Mutations in the SCN9A or SCN10A gene can cause small fiber neuropathy. These genes provide instructions for making pieces (the alpha subunits) of sodium channels. The SCN9A gene instructs the production of the alpha subunit for the NaV1.7 sodium channel and the SCN10A gene instructs the production of the alpha subunit for the NaV1.8 sodium channel. Sodium channels transport positively charged sodium atoms (sodium ions) into cells and play a key role in a cell's ability to generate and transmit electrical signals. The NaV1.7 and NaV1.8 sodium channels are found in nerve cells called nociceptors that transmit pain signals to the spinal cord and brain.  The SCN9A gene mutations that cause small fiber neuropathy result in NaV1.7 sodium channels that do not close completely when the channel is turned off. Many SCN10A gene mutations result in NaV1.8 sodium channels that open more easily than usual. The altered channels allow sodium ions to flow abnormally into nociceptors. This increase in sodium ions enhances transmission of pain signals, causing individuals to be more sensitive to stimulation that might otherwise not cause pain. In this condition, the small fibers that extend from the nociceptors through which pain signals are transmitted (axons) degenerate over time. The cause of this degeneration is unknown, but it likely accounts for signs and symptoms such as the loss of temperature differentiation and pinprick sensation. The combination of increased pain signaling and degeneration of pain-transmitting fibers leads to a variable condition with signs and symptoms that can change over time.  SCN9A gene mutations have been found in approximately 30 percent of individuals with small fiber neuropathy; SCN10A gene mutations are responsible for about 5 percent of cases. In some instances, other health conditions cause this disorder. Diabetes mellitus and impaired glucose tolerance are the most common diseases that lead to this disorder, with 6 to 50 percent of diabetics or pre-diabetics developing small fiber neuropathy. Other causes of this condition include a metabolic disorder called Fabry disease, immune disorders such as celiac disease or Sjogren syndrome, an inflammatory condition called sarcoidosis, and human immunodeficiency virus (HIV) infection.
Question: What are the genetic changes related to narcolepsy ?

Answer: Narcolepsy probably results from a combination of genetic and environmental factors, some of which have been identified, but many of which remain unknown.  In most cases of narcolepsy with cataplexy, and in some cases without cataplexy, sleep abnormalities result from a loss of particular brain cells (neurons) in a part of the brain called the hypothalamus. These cells normally produce chemicals called hypocretins (also known as orexins), which have many important functions in the body. In particular, hypocretins regulate the daily sleep-wake cycle. It is unclear what triggers the death of hypocretin-producing neurons in people with narcolepsy, although evidence increasingly points to an abnormality of the immune system.  Researchers have identified changes in several genes that influence the risk of developing narcolepsy. The most well-studied of these genes is HLA-DQB1, which provides instructions for making part of a protein that plays an important role in the immune system. The HLA-DQB1 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-DQB1 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-DQB1 gene called HLA-DQB1*06:02 has been strongly associated with narcolepsy, particularly in people who also have cataplexy and a loss of hypocretins. Most people with narcolepsy have the HLA-DQB1*06:02 variation, and many also have specific versions of other, closely related HLA genes. It is unclear how these genetic changes influence the risk of developing the condition.  Variations in several additional genes have also been associated with narcolepsy. Many of these genes are thought to play roles in immune system function. However, variations in these genes probably make only a small contribution to the overall risk of developing narcolepsy. Other genetic and environmental factors are also likely to influence a person's chances of developing this disorder. For example, studies suggest that bacterial or viral infections such as strep throat (streptococcus), colds, and influenza may be involved in triggering narcolepsy in people who are at risk.
Question: What are the treatments for Medullary Sponge Kidney ?

Answer: Scientists have not discovered a way to reverse medullary sponge kidney. Once a health care provider is sure a person has medullary sponge kidney, treatment focuses on
                
- curing an existing UTI  - removing any kidney stones
                
Curing an Existing Urinary Tract Infection
                
To treat a UTI, the health care provider may prescribe a medication called an antibiotic that kills bacteria. The choice of medication and length of treatment depend on the persons medical history and the type of bacteria causing the infection. More information is provided in the NIDDK health topic, Urinary Tract Infections in Adults.
                
Removing Kidney Stones
                
Treatment for kidney stones usually depends on their size and what they are made of, as well as whether they are causing pain or obstructing the urinary tract. Kidney stones may be treated by a general practitioner or by a urologista doctor who specializes in the urinary tract.
                
Small stones usually pass through the urinary tract without treatment. Still, the person may need pain medication and should drink lots of liquids to help move the stone along. Pain control may consist of oral or intravenous (IV) medication, depending on the duration and severity of the pain. People may need IV fluids if they become dehydrated from vomiting or an inability to drink.
                
A person with a larger stone, or one that blocks urine flow and causes great pain, may need more urgent treatment, such as
                
- shock wave lithotripsy. A machine called a lithotripter is used to break up the kidney stone into smaller pieces to pass more easily through the urinary tract. The patient may need local or general anesthesia.  - ureteroscopy. A ureteroscopea long, tubelike instrument with an eyepieceis used to find and retrieve the stone with a small basket or to break the stone up with laser energy. Local or general anesthesia may be required.  - percutaneous nephrolithotomy. In this procedure, a wire-thin viewing instrument, called a nephroscope, is used to locate and remove the stones. During the procedure, which requires general anesthesia, a tube is inserted directly into the kidney through a small incision in the patients back.
                
More information is provided in the NIDDK health topic, Kidney Stones in Adults.
Question: What are the symptoms of Jung Wolff Back Stahl syndrome ?

Answer: What are the signs and symptoms of Jung Wolff Back Stahl syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Jung Wolff Back Stahl 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) Aplasia/Hypoplasia of the cerebellum 90% Cognitive impairment 90% Depressed nasal bridge 90% Dry skin 90% Hypothyroidism 90% Low posterior hairline 90% Microcephaly 90% Muscular hypotonia 90% Recurrent respiratory infections 90% Round face 90% Tracheal stenosis 90% Wide nasal bridge 90% Abnormal form of the vertebral bodies 50% Abnormality of the genital system 50% Aplasia/Hypoplasia of the corpus callosum 50% Telecanthus 50% Abnormality of the hair - Abnormality of the teeth - Abnormality of the thorax - Anterior segment dysgenesis - Cerebellar hypoplasia - Congenital hypothyroidism - Dandy-Walker malformation - Growth delay - Growth hormone deficiency - Hip dysplasia - Hypoplasia of penis - Iris coloboma - Short foot - Short neck - Stenosis of the external auditory canal - 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 Chitayat Meunier Hodgkinson syndrome ?

Answer: What are the signs and symptoms of Chitayat Meunier Hodgkinson syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Chitayat Meunier Hodgkinson 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 fingernails 90% Abnormality of the nose 90% Clinodactyly of the 5th finger 90% Delayed skeletal maturation 90% Epicanthus 90% Frontal bossing 90% Glossoptosis 90% High forehead 90% Hypoplasia of the zygomatic bone 90% Long philtrum 90% Oral cleft 90% Proptosis 90% Proximal placement of thumb 90% Sandal gap 90% Short distal phalanx of finger 90% Triphalangeal thumb 90% Underdeveloped supraorbital ridges 90% Abnormal hair quantity 50% Abnormality of dental color 50% Carious teeth 50% Microdontia 50% Cleft palate - Easily subluxated first metacarpophalangeal joints - Hyperconvex nail - Pierre-Robin sequence - Tapered finger - 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 genetic changes related to restless legs syndrome ?

Answer: Restless legs syndrome likely results from a combination of genetic and environmental factors, many of which are unknown.  Studies suggest that restless legs syndrome is related to a shortage (deficiency) of iron in certain parts of the brain. Iron is involved in several critical activities in brain cells, including the production of a chemical messenger (neurotransmitter) called dopamine. Among its many functions, dopamine triggers signals within the nervous system that help the brain control physical movement. Researchers believe that malfunction of the dopamine signaling system may underlie the abnormal movements in people with restless legs syndrome. However, it is unclear how iron deficiency is related to abnormal dopamine signaling, or how these changes in the brain lead to the particular signs and symptoms of the condition.  Variations in several genes have been studied as risk factors for restless legs syndrome. Most of these genes are thought to be involved in the development of nerve cells (neurons) before birth. It is unclear whether any of the genes play roles in brain iron levels or in dopamine signaling. Variations in known genes appear to account for only a small percentage of the risk of developing restless legs syndrome. Changes in other genes, which have not been identified, probably also contribute to this complex disorder. Researchers suspect that the early-onset form of restless legs syndrome is more likely than the late-onset form to have a genetic basis.  Nongenetic factors are also thought to play a role in restless legs syndrome. For example, several other disorders increase the risk of developing the condition. These include a life-threatening failure of kidney function called end-stage renal disease, diabetes mellitus, multiple sclerosis, rheumatoid arthritis, and Parkinson disease. People with low iron levels associated with a shortage of red blood cells (anemia) and women who are pregnant are also more likely to develop restless legs syndrome. In these cases, the condition usually improves or goes away when iron levels increase or after the woman gives birth.  Restless legs syndrome can be triggered by medications, including certain drugs used to treat nausea, depression and other mental health disorders, colds and allergies, heart problems, and high blood pressure. Use of caffeine, nicotine, or alcohol can also trigger restless legs syndrome or make the signs and symptoms worse. In these cases, the condition usually improves or goes away once a person stops using these medications or substances.
Question: What are the symptoms of Oculodentoosseous dysplasia recessive ?

Answer: What are the signs and symptoms of Oculodentoosseous dysplasia recessive? The Human Phenotype Ontology provides the following list of signs and symptoms for Oculodentoosseous dysplasia recessive. 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) 2-4 toe cutaneous syndactyly - 4-5 finger syndactyly - Abnormality of dental enamel - Abnormality of dental morphology - Autosomal recessive inheritance - Brachycephaly - Broad long bones - Cataract - Delayed eruption of teeth - Delayed skeletal maturation - Dental crowding - Dental malocclusion - Failure to thrive - Fifth finger distal phalanx clinodactyly - Frontal bossing - Hypoplasia of teeth - Hypoplasia of the maxilla - Large earlobe - Long nose - Long philtrum - Low-set ears - Macrodontia of permanent maxillary central incisor - Microcornea - Microphthalmia - Myopia - Narrow mouth - Narrow nose - Persistent pupillary membrane - Prominent epicanthal folds - Short foot - Short palpebral fissure - Short stature - Small hand - Sparse eyelashes - Telecanthus - Thin vermilion border - Underdeveloped nasal alae - 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 Pulmonary arterial hypertension ?

Answer: What are the signs and symptoms of Pulmonary arterial hypertension? The Human Phenotype Ontology provides the following list of signs and symptoms for Pulmonary arterial hypertension. 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) Pulmonary hypertension 100% Chest pain 90% Elevated right atrial pressure 90% Increased pulmonary vascular resistance 90% Respiratory insufficiency 90% Right ventricular failure 90% Right ventricular hypertrophy 90% Edema of the lower limbs 50% Hepatomegaly 50% Vertigo 50% Abnormal thrombosis 33% Dyspnea 33% Pulmonary arterial medial hypertrophy 33% Pulmonary artery vasoconstriction 33% Pulmonary aterial intimal fibrosis 33% Abnormality of the tricuspid valve 7.5% Acrocyanosis 7.5% Ascites 7.5% Congestive heart failure 7.5% Hemoptysis 7.5% Recurrent respiratory infections 7.5% Sudden cardiac death 7.5% Arterial intimal fibrosis - Autosomal dominant inheritance - Hypertension - Incomplete penetrance - Telangiectasia - 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 Congenital generalized lipodystrophy type 2 ?

Answer: What are the signs and symptoms of Congenital generalized lipodystrophy type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital generalized lipodystrophy type 2. 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) Acanthosis nigricans - Accelerated skeletal maturation - Acute pancreatitis - Autosomal recessive inheritance - Cirrhosis - Clitoromegaly - Congenital onset - Cystic angiomatosis of bone - Decreased fertility - Decreased fertility in females - Decreased serum leptin - Generalized muscular appearance from birth - Hepatic steatosis - Hepatomegaly - Hirsutism - Hyperinsulinemia - Hypertriglyceridemia - Hypertrophic cardiomyopathy - Insulin-resistant diabetes mellitus at puberty - Intellectual disability, mild - Labial hypertrophy - Large hands - Lipodystrophy - Long foot - Mandibular prognathia - Nearly complete absence of metabolically active adipose tissue (subcutaneous, intraabdominal, intrathoracic) - Polycystic ovaries - Polyphagia - Prominent umbilicus - Splenomegaly - Tall stature - 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.