umarjan11/Medical-qna huggingface dataset:
Question: What are the symptoms of Pachygyria with mental retardation and seizures ?

Answer: What are the signs and symptoms of Pachygyria with mental retardation and seizures? The Human Phenotype Ontology provides the following list of signs and symptoms for Pachygyria with mental retardation and seizures. 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% Seizures 90% Premature birth 50% Abnormality of the skeletal system - Arachnoid cyst - Atypical absence seizures - Autosomal recessive inheritance - Generalized tonic-clonic seizures - Intellectual disability - Pachygyria - Profound static encephalopathy - 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 Zlotogora syndrome ?

Answer: What are the signs and symptoms of Zlotogora syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Zlotogora 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 philtrum - Anodontia - Anteverted ears - Autosomal recessive inheritance - Cleft palate - Cleft upper lip - Cutaneous finger syndactyly - Cutaneous syndactyly of toes - Hypodontia - Hypohidrosis - Microdontia - Nail dysplasia - Palmoplantar hyperkeratosis - Progressive hypotrichosis - Sparse eyebrow - Sparse eyelashes - 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 Santos Mateus Leal syndrome ?

Answer: What are the signs and symptoms of Santos Mateus Leal syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Santos Mateus Leal 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) Aganglionic megacolon 90% Foot polydactyly 90% Cognitive impairment 50% Hypertelorism 50% Postaxial hand polydactyly 50% Renal hypoplasia/aplasia 50% Sensorineural hearing impairment 50% Autosomal recessive inheritance - Hand polydactyly - Hearing impairment - Unilateral renal agenesis - 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: How to diagnose Stiff person syndrome ?

Answer: Is genetic testing available for stiff person syndrome? Genetic testing is not available for stiff person syndrome, as the underlying genetic cause (if any) has not yet been established. How is stiff person syndrome diagnosed? A diagnosis of stiff person syndrome (SPS) is typically made based on the presence of the characteristic symptoms, a detailed medical history, a thorough clinical exam, and various tests. Specific tests are used to support or confirm the diagnosis, and to rule out conditions with overlapping symptoms. These tests may include screening tests to detect antibodies against glutamic acid decarboxylase (GAD) and amphiphysin, and an electromyography (EMG) which records electrical activity in skeletal muscles. About 60% to 80% of affected people have autoantibodies against GAD. Although the absence of GAD antibodies does not rule out SPS, the presence of high levels of GAD antibodies in appropriate people strongly supports the diagnosis. An EMG typically shows continuous motor activity, which is characteristic of SPS. Very high levels of GAD antibodies and characteristic EMG findings will confirm the diagnosis in the majority of people with SPS. Additional laboratory testing may also be used to support a diagnosis of SPS, such as hemoglobin A1C (due to association with diabetes mellitus); complete blood count (due to association with pernicious anemia); comprehensive metabolic profile; and thyroid-stimulating hormone (due to association with thyroiditis). Lumbar puncture should be obtained in people with symptoms consistent with SPS to rule out other causes. Oligoclonal bands can be seen in about two thirds of affected people who are antibody-positive.
Question: What is (are) polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy ?

Answer: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy, commonly known as PLOSL, is a progressive disorder that affects the bones and brain. "Polycystic lipomembranous osteodysplasia" refers to cyst-like bone changes that can be seen on x-rays. "Sclerosing leukoencephalopathy" describes specific changes in the brain that are found in people with this disorder.  The bone abnormalities associated with PLOSL usually become apparent in a person's twenties. In most affected individuals, pain and tenderness in the ankles and feet are the first symptoms of the disease. Several years later, broken bones (fractures) begin to occur frequently, particularly in bones of the ankles, feet, wrists, and hands. Bone pain and fractures are caused by thinning of the bones (osteoporosis) and cyst-like changes. These abnormalities weaken bones and make them more likely to break.  The brain abnormalities characteristic of PLOSL typically appear in a person's thirties. Personality changes are among the first noticeable problems, followed by a loss of judgment, feelings of intense happiness (euphoria), a loss of inhibition, and poor concentration. These neurologic changes cause significant problems in an affected person's social and family life. As the disease progresses, it causes a severe decline in thinking and reasoning abilities (dementia). Affected people ultimately become unable to walk, speak, or care for themselves. People with this disease usually live only into their thirties or forties.
Question: What are the genetic changes related to cyclic vomiting syndrome ?

Answer: Although the causes of cyclic vomiting syndrome have yet to be determined, researchers have proposed several factors that may contribute to the disorder. These factors include changes in brain function, hormonal abnormalities, and gastrointestinal problems. Many researchers believe that cyclic vomiting syndrome is a migraine-like condition, which suggests that it is related to changes in signaling between nerve cells (neurons) in certain areas of the brain. Many affected individuals have abnormalities of the autonomic nervous system, which controls involuntary body functions such as heart rate, blood pressure, and digestion. Based on these abnormalities, cystic vomiting syndrome is often classified as a type of dysautonomia.  Some cases of cyclic vomiting syndrome, particularly those that begin in childhood, may be related to changes in mitochondrial DNA. Mitochondria are structures within cells that 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).  Several changes in mitochondrial DNA have been associated with cyclic vomiting syndrome. Some of these changes alter single DNA building blocks (nucleotides), whereas others rearrange larger segments of mitochondrial DNA. These changes likely impair the ability of mitochondria to produce energy. Researchers speculate that the impaired mitochondria may cause certain cells of the autonomic nervous system to malfunction, which could affect the digestive system. However, it remains unclear how changes in mitochondrial function could cause episodes of nausea, vomiting, and lethargy; abdominal pain; or migraines in people with this condition.
Question: What are the symptoms of Chondrodysplasia with joint dislocations, GPAPP type ?

Answer: What are the signs and symptoms of Chondrodysplasia with joint dislocations, GPAPP type? The Human Phenotype Ontology provides the following list of signs and symptoms for Chondrodysplasia with joint dislocations, GPAPP 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) Autosomal recessive inheritance - Brachydactyly syndrome - Coronal craniosynostosis - Flat face - Genu valgum - Hearing impairment - High forehead - Narrow mouth - Patellar dislocation - Proptosis - Short foot - Short metacarpal - Short nose - Short stature - Short toe - Wide nasal bridge - 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: How to diagnose Chronic fatigue syndrome ?

Answer: How is chronic fatigue syndrome diagnosed? No specific diagnostic tests are available. Though there is no definitive diagnostic test, the diagnosis can be made if the patient has a typical history, and no abnormality can be detected on the exam or in the screening tests.    The Committee on the Diagnostic Criteria for Myalgic Encephalomyelitis/Chronic Fatigue Syndrome, The Board of Select Populations and the Institute of Medicine proposed a diagnosis criteria which requires that the patient have the following three symptoms: 1. A chronic fatigue that interferes with the daily activities and work,  which is often profound, is of new or definite onset (not lifelong), is not the result of ongoing excessive exertion or other medical conditions, and is not greatly alleviated by rest. 2. Post-exertional malaise. 3. Unrefreshing sleep. At least one of the two following symptoms is also required: 1. Cognitive impairment (imparirment of short memory or concentration). 2. Orthostatic intolerance (Onset of symptoms when standing upright that are improved by lying back down). Other  symptoms include post exertion illness lasting more than 24 hours, muscle pain, pain in the joints, headaces, tender lymph nodes and sore throat.   These symptoms should have persisted or recurred during 6 or more consecutive months of illness and they cannot have first appeared before the fatigue. The following tests are expected to be normal in patients with chronic fatigue syndrome:  Complete blood count with differential count;  Chemistry screen;  Thyroid stimulating hormone level;  Other tests based in the patients symptoms like immunologic tests or serologic tests.
Question: What are the symptoms of Ring chromosome 8 ?

Answer: What are the signs and symptoms of Ring chromosome 8? The Human Phenotype Ontology provides the following list of signs and symptoms for Ring chromosome 8. 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 palate 90% Abnormality of the ureter 90% Anteverted nares 90% Cognitive impairment 90% Deviation of finger 90% Epicanthus 90% Frontal bossing 90% High forehead 90% Low posterior hairline 90% Polyhydramnios 90% Round ear 90% Short nose 90% Sloping forehead 90% 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 chloride diarrhea ?

Answer: What are the signs and symptoms of Congenital chloride diarrhea? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital chloride diarrhea. 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 distention - Abnormality of the cardiovascular system - Autosomal recessive inheritance - Dehydration - Diarrhea - Failure to thrive - Growth delay - Hyperactive renin-angiotensin system - Hyperaldosteronism - Hypochloremia - Hypokalemia - Hyponatremia - Metabolic alkalosis - Polyhydramnios - Premature birth - 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: How to diagnose Familial Mediterranean fever ?

Answer: How is familial Mediterranean fever (FMF) diagnosed? In making a diagnosis of FMF, doctors take all of these factors into account: Whether the person has the clinical symptoms common for the disease and whether the symptoms are recurrent. How he or she responds to colchicine treatment. Usually a positive family history in people of Middle Eastern ancestry. The results of genetic testing. Also helpful in establishing a correct diagnosis of FMF is the person's ancestry. Testing for the following can also be helpful: Elevated white blood cell count, which is an indication of an immune response. Elevated erythrocyte sedimentation rate (ESR), which is an indication of an inflammatory response. Elevated plasma fibrinogen, which helps stop bleeding. An elevated amount would indicate that something might be wrong with this mechanism. Elevated serum haptoglobin, which would indicate that red blood cells are being destroyed, a common occurrence in rheumatic diseases, such as FMF. Elevated C-reactive protein, which is a special type of protein, produced by the liver, that is only present during episodes of acute inflammation. Elevated albumin in the urine, which is demonstrated by urinalysis. The presence of the protein albumin in the urine can be a symptom of kidney disease, along with microscopic hematuria (very small - microscopic - amounts of blood or blood cells in the urine), during attacks. Is genetic testing for familial Mediterranean fever (FMF) available? Yes. The Genetic Testing Registry (GTR) provides information about the genetic testing for this condition. We strongly recommend that you work with a genetics professional if you wish to pursue genetic testing.
Question: What are the symptoms of Transient bullous dermolysis of the newborn ?

Answer: What are the signs and symptoms of Transient bullous dermolysis of the newborn? The Human Phenotype Ontology provides the following list of signs and symptoms for Transient bullous dermolysis of the newborn. 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 blistering of the skin 90% Cheilitis 50% Hypopigmented skin patches 50% Thin skin 50% Abnormality of metabolism/homeostasis - Atrophic scars - Autosomal dominant inheritance - Autosomal recessive inheritance - Congenital onset - Fragile skin - Milia - Nail dystrophy - 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 Selig Benacerraf Greene syndrome ?

Answer: What are the signs and symptoms of Selig Benacerraf Greene syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Selig Benacerraf Greene 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 foot - Autosomal dominant inheritance - Autosomal recessive inheritance - Bicornuate uterus - Congenital onset - Hypertelorism - Hypertension - Low-set ears - Oligohydramnios - Potter facies - Primary amenorrhea - Proteinuria - Pulmonary hypoplasia - Retrognathia - Talipes equinovarus - Vaginal atresia - 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 Complex regional pain syndrome ?

Answer: How might complex regional pain syndrome be treated? There is no known cure for complex regional pain syndrome (CRPS). Treatment includes a multidisciplinary approach with the aim of controlling pain symptoms. It has been suggested that when treatment is started within a few months of when symptoms begin, improvement or remission may be possible. A combination of therapies is usually necessary including medications, physical and occupational therapy, interventional procedures, and psychosocial/behavioral management. Medications used to treat CRPS may include:oral and topical pain relievers; antidepressants or anticonvulsants (which are sometimes used to treat pain); corticosteroids; bone-loss medications; sympathetic nerve-blocking medications; intravenous anesthetics (Ketamine), and/or intravenous immunoglobulin (IVIG). Other therapies used may include applying heat or cold; electrical nerve stimulation; and biofeedback. Interventional procedures may include: trigger/tender point injections; regional sympathetic nerve block; spinal cord stimulation; epiduralclonidine; and chemical or mechanical sympathectomy. Unfortunately, published research studies validating the efficacy of these treatment options are limited and no single drug or therapy (or combination) has shown consistent, long-lasting improvement among affected people. For more information on treatment options for CRPS, click on the following link from the Reflex Sympathetic Dystrophy Association of America (RSDSA) http://rsds.org/treatment or the following link on chronic pain through the National Institute of Neurological Disorders and Stroke http://www.ninds.nih.gov/disorders/chronic_pain/detail_chronic_pain.htm