Druvith/medqa1 huggingface dataset:
Question:  What are the symptoms of Spinocerebellar ataxia 40 ?
Answer: What are the signs and symptoms of Spinocerebellar ataxia 40? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 40. 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) Broad-based gait - Dysarthria - Dysdiadochokinesis - Hyperreflexia - Intention tremor - Pontocerebellar atrophy - Spastic paraparesis - Unsteady gait - 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 Iminoglycinuria ?
Answer: What are the signs and symptoms of Iminoglycinuria? The Human Phenotype Ontology provides the following list of signs and symptoms for Iminoglycinuria. 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 eye - Autosomal recessive inheritance - Hydroxyprolinuria - Hyperglycinuria - Intellectual disability - Prolinuria - 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 Zori Stalker Williams syndrome ?
Answer: What are the signs and symptoms of Zori Stalker Williams syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Zori Stalker Williams 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) Cognitive impairment 90% Short stature 90% Broad forehead 50% Macrocephaly 50% Depressed nasal bridge 7.5% Frontal bossing 7.5% Hypoplasia of the zygomatic bone 7.5% Hypoplastic toenails 7.5% Muscular hypotonia 7.5% Pectus excavatum 7.5% Prominent supraorbital ridges 7.5% Short nose 7.5% Autosomal dominant inheritance - Hypoplasia of midface - Malar flattening - Nail dysplasia - Prominent forehead - Relative macrocephaly - 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) Maternally inherited diabetes and deafness ?
Answer: Maternally inherited diabetes and deafness (MIDD) is a form of diabetes that is often accompanied by hearing loss, especially of high tones. The diabetes in MIDD is characterized by high blood sugar levels (hyperglycemia) resulting from a shortage of the hormone insulin, which regulates the amount of sugar in the blood. MIDD is caused by mutations in the MT-TL1, MT-TK, or MT-TE gene. These genes are found in mitochondrial DNA, which is part of cellular structures called mitochondria. Although most DNA is packaged in chromosomes within the cell nucleus, mitochondria also have a small amount of their own DNA (known as mitochondrial DNA or mtDNA). Because the genes involved with MIDD are found in mitochondrial DNA, this condition is inherited in a mitochondrial pattern, which is also known as maternal inheritance. Because egg cells, but not sperm cells, contribute mitochondria to the developing embryo, only females pass mitochondrial conditions to their children. Mitochondrial disorders can appear in every generation of a family and can affect both males and females, but fathers do not pass mitochondrial traits to their children.
Question:  What are the symptoms of Maternally inherited diabetes and deafness ?
Answer: What are the signs and symptoms of Maternally inherited diabetes and deafness? The Human Phenotype Ontology provides the following list of signs and symptoms for Maternally inherited diabetes and deafness. 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 macula 90% Chorioretinal abnormality 90% Constipation 90% Diabetes mellitus 90% Malabsorption 90% Sensorineural hearing impairment 90% Abnormality of lipid metabolism 50% Aplasia/Hypoplasia of the cerebellum 50% Arrhythmia 50% Congestive heart failure 50% Glomerulopathy 50% Hypertension 50% Hypertrophic cardiomyopathy 50% Muscle weakness 50% Myalgia 50% Ophthalmoparesis 50% Proteinuria 50% Cataract 7.5% Incoordination 7.5% Renal insufficiency 7.5% Retinopathy 7.5% Visual impairment 7.5% Ptosis 5% Dysarthria - External ophthalmoplegia - Hyperglycemia - Mitochondrial inheritance - Pigmentary retinal degeneration - Retinal degeneration - Seizures - Type II diabetes mellitus - Unsteady gait - Vertigo - 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. When do the diabetes and hearing loss associated with MIDD typically develop? In MIDD, the diabetes and hearing loss usually develop in mid-adulthood, although the age that they occur varies from childhood to late adulthood. Typically, hearing loss occurs before diabetes.
Question:  Is Maternally inherited diabetes and deafness inherited ?
Answer: How do people inherit MIDD? MIDD is inherited in a mitochondrial pattern, which is also known as maternal inheritance. This pattern of inheritance applies to genes contained in mitochondrial DNA. Because egg cells, but not sperm cells, contribute mitochondria to the developing embryo, only females pass mitochondrial conditions to their children. Mitochondrial disorders can appear in every generation of a family and can affect both males and females, but fathers do not pass mitochondrial traits to their children. Most of the body's cells contain thousands of mitochondria, each with one or more copies of mitochondrial DNA. These cells can have a mix of mitochondria containing mutated and unmutated DNA (heteroplasmy). The severity of MIDD is thought to be associated with the percentage of mitochondria with the mitochondrial DNA mutation.
Question:  What is (are) Embryonal carcinoma ?
Answer: Embryonal carcinoma is a type of testicular cancer, which is cancer that starts in the testicles, the male reproductive glands located in the scrotum. It most often develops in young and middle-aged men. It tends to grow rapidly and spread outside the testicle. Embryonal carcinomas are classified as nonseminoma germ cell tumors. Most testicular cancers grow from germ cells, the cells that make sperm. Germ cell tumors are broadly divided into seminomas and nonseminomas because each type has a different prognosis and treatment regimen. Nonseminomas, which are more common, tend to grow more quickly than seminomas. Nonseminoma tumors are often made up of more than one type of cell, and are identified according to the different cell types.
Question:  What is (are) Mnire's disease ?
Answer: Mnire's disease is an abnormality of the inner ear. Signs and symptoms may include disabling vertigo or severe dizziness lasting from minutes to hours; tinnitus or a roaring sound in the ears; fluctuating hearing loss; and the sensation of pressure or pain in the affected ear. A small percentage of people have drop attacks, also called spells of Tumarkin. The disorder usually affects only one ear and is a common cause of hearing loss. Some people develop symptoms in both ears many years after their initial diagnosis. The exact cause of Mnire's disease is unknown, but the symptoms are thought to be associated with a change in fluid volume within a portion of the inner ear known as the labyrinth. Treatment may include medications or surgery depending on the severity of the condition.
Question:  What are the symptoms of Mnire's disease ?
Answer: What are the signs and symptoms of Mnire's disease? The symptoms of Mnire's disease typically occur suddenly and can arise daily, or as infrequently as once a year. Vertigo, often the most debilitating symptom of Mnire's disease, typically involves a whirling dizziness that forces the affected person to lie down. Vertigo attacks can lead to severe nausea, vomiting, and sweating, and often come with little or no warning. Some people with Mnire's disease have attacks that start with tinnitus (ear noises), a loss of hearing, or a full feeling or pressure in the affected ear. It is important to remember that all of these symptoms are unpredictable. Typically, the attack is characterized by a combination of vertigo, tinnitus, and hearing loss lasting several hours. People experience these discomforts at varying frequencies, durations, and intensities. Some may feel slight vertigo a few times a year. Others may be occasionally disturbed by intense, uncontrollable tinnitus while sleeping. Affected people may also notice hearing loss or feel unsteady for prolonged periods. Other occasional symptoms of Mnire's disease may include headaches, abdominal discomfort, and diarrhea. A person's hearing tends to recover between attacks but over time may become worse. Meniere's disease usually starts in one ear but it may extend to involve both ears over time. The Human Phenotype Ontology provides the following list of signs and symptoms for Mnire'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 - Hearing impairment - Tinnitus - Vertigo - 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 Mnire's disease ?
Answer: What causes Mnire's disease? The underlying cause of Mnire's disease is unknown, although it probably results from a combination of environmental and genetic factors. Possible factors that have been studied include viral infections; trauma to the middle ear; middle ear infection (otitis media); head injury; a hereditary predisposition; syphilis; allergies; abnormal immune system responses; migraines; and noise pollution. The symptoms of Mnire's disease are thought to relate to changes in fluid volume in the inner ear, which contains structures necessary for normal hearing and balance. Changes in fluid volume may disrupt signals sent from the inner ear to the brain, or may lead to tears or ruptures of the structures that affect hearing and balance. More detailed information about the causes of symptoms associated with Mnire's disease is available on NIDCD's Web site.
Question:  How to diagnose Mnire's disease ?
Answer: How is Mnire's disease diagnosed? The hallmark of Mnire's disease is the fluctuation, waxing and waning of symptoms.  Proper diagnosis of Mnire's disease entails several procedures, including a medical history interview; a physical examination; hearing and balance tests; and medical imaging with magnetic resonance imaging (MRI). Accurate measurement and characterization of hearing loss are of critical importance in the diagnosis of Mnire's disease. Through the use of several types of hearing tests, physicians can characterize hearing loss as being sensory (arising from the inner ear) or neural (arising from the hearing nerve). Recording the auditory brain stem response, which measures electrical activity in the hearing nerve and brain stem, is useful in differentiating between these two types of hearing loss. Electrocochleography, recording the electrical activity of the inner ear in response to sound, helps confirm the diagnosis. To test the vestibular or balance system, physicians irrigate the ears with warm and cool water or air. This procedure, known as caloric testing, results in nystagmus, rapid eye movements that can help a physician analyze a balance disorder. Since tumor growth can produce symptoms similar to Mnire's disease, an MRI is a useful test to determine whether a tumor is causing the patient's vertigo and hearing loss.
Question:  What are the treatments for Mnire's disease ?
Answer: How might Mnire's disease be treated? At the present time there is no cure for Mnire's disease, but there are several safe and effective medical and surgical therapies that are available to help individuals cope with the symptoms. The symptoms of the disease are often controlled successfully by reducing the bodys retention of fluids through dietary changes (such as a low-salt or salt-free diet and no caffeine or alcohol). Medications such as antihistamines, anticholinergics, and diuretics may lower endolymphatic pressure by reducing the amount of endolymphatic fluid. Eliminating tobacco use and reducing stress levels may also help lessen the severity of symptoms. Symptoms such as dizziness, vertigo, and associated nausea and vomiting may respond to sedative/hypnotics, benzodiazepines like diazepam and anti-emetics. Different surgical procedures are an option for individuals with persistent, debilitating vertigo. Labyrinthectomy (removal of the inner ear sense organ) can effectively control vertigo, but sacrifices hearing and is reserved for patients with nonfunctional hearing in the affected ear. Vestibular neurectomy, selectively severing a nerve from the affected inner ear organ, usually controls the vertigo while preserving hearing but carries surgical risks. Recently, the administration of the ototoxic antibiotic gentamycin directly into the middle ear space has gained popularity worldwide for the control of vertigo associated with Mnire's disease. An article published in the journal Lancet in August 2008, written by Sajjadi and Paparella, reviews treatment options and strategies for individuals with Mnire's disease. Click here to view the abstract of this article. To obtain the complete article, the NLM Web site has a page for locating libraries in your area that can provide direct access to journals (print or online) or where you can get articles through interlibrary loan and Loansome Doc (an NLM document-ordering service). Click on NLM Web site to access this page or go to 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 are the symptoms of Bone dysplasia lethal Holmgren type ?
Answer: What are the signs and symptoms of Bone dysplasia lethal Holmgren type? The Human Phenotype Ontology provides the following list of signs and symptoms for Bone dysplasia lethal Holmgren 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 femur 90% Abnormality of the ribs 90% Micromelia 90% Narrow chest 90% Short stature 90% Skeletal dysplasia 90% Weight loss 90% Abnormal diaphysis morphology 50% Abnormality of epiphysis morphology 50% Abnormality of the elbow 50% Abnormality of the metaphyses 50% Abnormality of the thumb 50% Anteverted nares 50% Depressed nasal ridge 50% Frontal bossing 50% Hearing abnormality 50% High forehead 50% Joint dislocation 50% Joint hypermobility 50% Malar flattening 50% Muscular hypotonia 50% Short neck 50% Abnormality of the skin 7.5% Anemia 7.5% Atria septal defect 7.5% Diarrhea 7.5% Hepatomegaly 7.5% Hernia 7.5% Hypertrophic cardiomyopathy 7.5% Nausea and vomiting 7.5% Patent ductus arteriosus 7.5% Recurrent respiratory infections 7.5% Respiratory insufficiency 7.5% Talipes 7.5% Thickened nuchal skin fold 7.5% Autosomal recessive inheritance - Bell-shaped thorax - Short ribs - 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) Trichotillomania ?
Answer: Trichotillomania is an impulse control disorder characterized by an overwhelming urge to repeatedly pull out one's own hair (usually on the scalp), resulting in hair loss (alopecia). The eyelashes, eyebrows, and beard can also be affected. Many affected individuals feel extreme tension when they feel an impulse, followed by relief, gratification or pleasure afterwards. The condition may be mild and manageable, or severe and debilitating. Some individuals chew or swallow the hair they pull out (trichophagy), which can result in gastrointestinal problems. The exact cause of the condition is unknown. Treatment typically involves psychotherapy (including cognitive behavior therapy) and/or drug therapy, but these are not always effective.
Question:  What are the symptoms of Trichotillomania ?
Answer: What are the signs and symptoms of Trichotillomania? The Human Phenotype Ontology provides the following list of signs and symptoms for Trichotillomania. 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) Alopecia - Autosomal dominant inheritance - Hair-pulling - Multifactorial inheritance - Obsessive-compulsive behavior - 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.