falan42/medcuad_data huggingface dataset:
Topic: Congenital adrenal hyperplasia
Question: How to diagnose Congenital adrenal hyperplasia ?
Answer: Is genetic testing avaliable for congenital adrenal hyperplasia? Yes, genetic testing is available for many of the genes known to cause congenital adrenal hyperplasia (CAH). Carrier testing for at-risk relatives and prenatal testing are possible if the disease-causing mutations in the family are known. The Genetic Testing Registry (GTR) is a centralized online resource for information about genetic tests. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. How is congenital adrenal hyperplasia diagnosed? Shortly after birth, all newborns in the United States are screened for a variety of conditions, including 21-hydroxylase deficiency. This is the most common cause of congenital adrenal hyperplasia (CAH) and accounts for 95% of classic CAH cases. Nonclassic CAH is not detected through newborn screening and is often not suspected until signs and symptoms of the condition begin to appear later in childhood or early adulthood. In these cases, a diagnosis of CAH is usually based on physical examination; blood and urine tests that measure hormone levels; and/or genetic testing. An X-ray may also be helpful in confirming the diagnosis in children since CAH can cause bones to grow and develop more quickly than usual (advanced bone age) .
(Source: GARD)
Topic: Congenital adrenal hyperplasia
Question: What are the treatments for Congenital adrenal hyperplasia ?
Answer: How might congenital adrenal hyperplasia be treated? The best treatment options for congenital adrenal hyperplasia (CAH) depend on many factors including the type of CAH and the signs and symptoms present in each person. Many people with CAH require steroids to replace the low hormones. These medications will need to be taken daily throughout life or the symptoms of CAH may return. It is important that affected people on medications be closely followed by their healthcare provider because their dose may need to be adjusted at different times in life such as periods of high stress or illness. Girls with severe CAH who are born with ambiguous genitalia may undergo surgery to ensure proper function and/or to make the genitals look more female. For more information on the treatment of CAH, please click here.
(Source: GARD)
Topic: Myelodysplastic/myeloproliferative disease
Question: What is (are) Myelodysplastic/myeloproliferative disease ?
Answer: Myelodysplastic/myeloproliferative diseases are a group of diseases of the blood and bone marrow in which the bone marrow makes too many white blood cells.  These disease have features of both myelodysplastic syndromes and myeloproliferative disorders. In myelodysplastic diseases, the blood stem cells do not mature into healthy red blood cells, white blood cells, or platelets and as a result, there are fewer of these healthy cells. In myeloproliferative diseases, a greater than normal number of blood stem cells develop into one or more types of blood cells and the total number of blood cells slowly increases. The 3 main types of myelodysplastic/myeloproliferative diseases include chronic myelomonocytic leukemia (CMML); juvenile myelomonocytic leukemia (JMML); and atypical chronic myelogenous leukemia (aCML). When a myelodysplastic/myeloproliferative disease does not match any of these types, it is called myelodysplastic/myeloproliferative neoplasm, unclassifiable (MDS/MPN-UC). Symptoms of CMML and JMML may include fever, feeling tired and weight loss. Symptoms of aCML may include easy bruising or bleeding and feeling tired or weak. Myelodysplastic/myeloproliferative diseases may progress to acute leukemia. There are different types of treatment for individuals with one of these diseases, which may include chemotherapy, another drug therapy, stem cell transplant and/or supportive care.
(Source: GARD)
Topic: Myelodysplastic/myeloproliferative disease
Question: What causes Myelodysplastic/myeloproliferative disease ?
Answer: What causes myelodysplastic/myeloproliferative disease? In most cases, the cause of myelodysplastic/myeloproliferative disease is unknown, and there is limited information regarding potential causes. No specific genetic defects have been identified for any of the diseases. The specific cause of chronic myelomonocytic leukemia (CMML) is unknown, but exposure to occupational and environmental carcinogens (agents that can cause cancer), ionizing radiation, and cytotoxic agents (agents that are toxic to cells) have been associated in some cases. The cause of juvenile myelomonocytic leukemia (JMML) is not known; however, children with neurofibromatosis type 1 (NF1) are at increased risk for developing JMML, and up to 14% of cases of JMML occur in children with NF1. Atypical chronic myelogenous leukemia (aCML) has been associated with cytogenetic (chromosomal) abnormalities in as many as 80% of individuals with the disease; however, no cytogenetic abnormality is specific. Myelodysplastic/myeloproliferative neoplasm, unclassifiable (MDS/ MPN-UC) (also known as mixed myeloproliferative/ myelodysplastic syndrome) also has no known cause.
(Source: GARD)
Topic: Pachygyria with mental retardation and seizures
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.
(Source: GARD)
Topic: Congenital dyserythropoietic anemia type 3
Question: What are the symptoms of Congenital dyserythropoietic anemia type 3 ?
Answer: What are the signs and symptoms of Congenital dyserythropoietic anemia type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital dyserythropoietic anemia type 3. 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 - Congenital hypoplastic anemia - Hemosiderinuria - Jaundice - Macrocytic anemia - 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.
(Source: GARD)
Topic: Dextrocardia
Question: What is (are) Dextrocardia ?
Answer: Dextrocardia is a condition in which the heart is located in the right side of the chest instead of the left. It is usually present from birth (congenital). There are several types of dextrocardia.  The simplest type occurs when the shape and structure of the heart is a mirror image of a normal heart.  Other types of dextrocardia may involve defects of the walls of the heart, nearby blood vessels, or other organs in the abdomen. Chest X-raxys and echocardiograms can be used to determine which type of dextrocardia is present.
(Source: GARD)
Topic: Hemolytic anemia lethal congenital nonspherocytic with genital and other abnormalities
Question: What are the symptoms of Hemolytic anemia lethal congenital nonspherocytic with genital and other abnormalities ?
Answer: What are the signs and symptoms of Hemolytic anemia lethal congenital nonspherocytic with genital and other abnormalities? The Human Phenotype Ontology provides the following list of signs and symptoms for Hemolytic anemia lethal congenital nonspherocytic with genital and other abnormalities. 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 ureter 90% Hypoplasia of penis 90% Oligohydramnios 90% Respiratory insufficiency 90% Sandal gap 90% Abnormality of coagulation 50% Aplasia/Hypoplasia of the lungs 50% Ascites 50% Depressed nasal ridge 50% Displacement of the external urethral meatus 50% Microcephaly 50% Muscular hypotonia 50% Narrow mouth 50% Polyhydramnios 50% Renal hypoplasia/aplasia 50% Splenomegaly 50% Thin vermilion border 50% Abnormal external genitalia - Abnormality of earlobe - Deep plantar creases - Flat occiput - Hemolytic anemia - Hepatosplenomegaly - 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.
(Source: GARD)
Topic: Immune defect due to absence of thymus
Question: What are the symptoms of Immune defect due to absence of thymus ?
Answer: What are the signs and symptoms of Immune defect due to absence of thymus? The Human Phenotype Ontology provides the following list of signs and symptoms for Immune defect due to absence of thymus. 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 - Bronchiectasis - Chronic diarrhea - Eczematoid dermatitis - Emphysema - Failure to thrive - Hepatosplenomegaly - Lymphopenia - Metaphyseal dysostosis - Pyoderma - Recurrent bronchopulmonary infections - Recurrent pneumonia - Reduced delayed hypersensitivity - 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.
(Source: GARD)
Topic: Polymyositis
Question: What is (are) Polymyositis ?
Answer: Polymyositis is a type of inflammatory myopathy, which refers to a group of muscle diseases characterized by chronic muscle inflammation and weakness. It involves skeletal muscles (those involved with making movement) on both sides of the body. Although it can affect people of all ages, most cases are seen in adults between the ages of 31 and 60. The exact cause of polymyositis is unknown; however, the disease shares many characteristics with autoimmune disorders which occur when the immune system mistakenly attacks healthy body tissues. It some cases, the condition may be associated with viral infections, malignancies, or connective tissue disorders. Although there is no cure for polymyositis, treatment can improve muscle strength and function.
(Source: GARD)
Topic: Polymyositis
Question: What are the symptoms of Polymyositis ?
Answer: What are the symptoms of polymyositis? Polymyositis is characterized by chronic muscle inflammation and weakness involving the skeletal muscles (those involved with making movement) on both sides of the body. Weakness generally starts in the proximal muscles which can eventually cause difficulties climbing stairs, rising from a sitting position, lifting objects, or reaching overhead. In some cases, distal muscles may also be affected as the disease progresses. Other symptoms may include arthritis; shortness of breath; difficulty swallowing and speaking; mild joint or muscle tenderness; fatigue, and heart arrhythmias.
(Source: GARD)
Topic: Polymyositis
Question: How to diagnose Polymyositis ?
Answer: How is polymyositis diagnosed? A diagnosis of polymyositis is often suspected in people with proximal muscle weakness and other associated signs and symptoms. Additional testing can then be ordered to confirm the diagnosis and rule out other conditions that may cause similar features. This testing may include: Blood tests to measure the levels of certain muscle enzymes (i.e. creatine kinase and aldolase) and detect specific autoantibodies associated with different symptoms of polymyositis Electromyography to check the health of the muscles and the nerves that control them Imaging studies such as an MRI scan to detect muscle inflammation A muscle biopsy to diagnose muscle abnormalities such as inflammation, damage and/or infection Medscape Reference's Web site offers more specific information regarding the treatment and management of polymyositis. Please click on the link to access this resource.
(Source: GARD)
Topic: Polymyositis
Question: What are the treatments for Polymyositis ?
Answer: How might polymyositis be treated? The treatment of polymyositis is based on the signs and symptoms present in each person. Although there is currently no cure, symptoms of the condition may be managed with the following: Medications such as corticosteroids, corticosteroid-sparing agents, immunosuppressive drugs Physical therapy to improve muscle strength and flexibility Speech therapy to address difficulties with swallowing and speech Intravenous immunoglobulin (healthy antibodies are given to block damaging autoantibodies that attack muscle) Medscape Reference's Web site offers more specific information regarding the treatment and management of polymyositis. Please click on the link to access the resource.
(Source: GARD)
Topic: Erythema nodosum, idiopathic
Question: What is (are) Erythema nodosum, idiopathic ?
Answer: Erythema nodosum (EN) is a skin condition in which red bumps (nodules) form on the shins. Less commonly, the nodules form on other areas of the body such as the thighs and forearms. The lesions begin as firm, hot, red, painful lumps and progress to a purplish color. EN is a type of inflammatory disorder affecting the layer of fat under the skin (panniculitis). Other symptoms that may accompany the skin findings include the following: fever, a general feeling of being ill. joint aches, and swelling of the affected area. In many cases, EN is presumed to be a delayed reaction to antigens associated with various infections, drugs, and certain systemic diseases. In many cases, however, EN has no identifiable cause (idiopathic); in these cases, clinical follow-up is needed to rule out certain conditions including inflammatory bowel disease, sarcoidosis, lymphoma, and Behcet's disease. Treatment may include rest, nonsteroidal anti-inflammatory drugs (NSAIDS), steroids, hot or cold compresses, potassium iodide solution, and supportive bandages or compression stockings. Symptoms usually resolve within six weeks, but EN may become a chronic disorder lasting for months and, occasionally, for years. Approximately 30% cases of idiopathic EN may last more than 6 months.
(Source: GARD)
Topic: BOD syndrome
Question: What is (are) BOD syndrome ?
Answer: BOD syndrome is a genetic condition characterized by underdeveloped pinky toenails or fingernails, normal intellect to mild intellectual disability, distinct facial features, and short stature. The cause of the condition is not known. BOD syndrome is thought to be inherited in an autosomal dominant fashion, however in many cases the condition occurs for the first time in a family due to a new mutation. Signs and symptoms of BOD syndrome are similar to, albeit milder than that of, Coffin-Siris syndrome. The relationship between these syndromes is presently unknown.
(Source: GARD)
Topic: BOD syndrome
Question: What are the symptoms of BOD syndrome ?
Answer: What are the signs and symptoms of BOD syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for BOD 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% Anonychia 90% Aplasia/Hypoplasia of the distal phalanges of the toes 90% Aplastic/hypoplastic toenail 90% Brachydactyly syndrome 90% Delayed skeletal maturation 90% Long philtrum 90% Microcephaly 90% Short distal phalanx of finger 90% Short stature 90% Wide nasal bridge 90% Abnormal nasal morphology 50% Epicanthus 50% Frontal bossing 50% Hypoplasia of the zygomatic bone 50% Intrauterine growth retardation 50% Narrow forehead 50% Pointed chin 50% Strabismus 50% Triangular face 50% Wide mouth 50% Abnormality of the mitral valve 7.5% Abnormality of the respiratory system 7.5% Atria septal defect 7.5% Clinodactyly of the 5th finger 7.5% Coarse facial features 7.5% Cognitive impairment 7.5% High anterior hairline 7.5% Hypertrichosis 7.5% Symphalangism affecting the phalanges of the hand 7.5% Thick eyebrow 7.5% Umbilical hernia 7.5% Abnormal facial shape - Autosomal dominant inheritance - Congenital cystic adenomatoid malformation of the lung - Nail dysplasia - Short distal phalanx of the 5th finger - Short middle phalanx of the 5th finger - Wide nose - 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.
(Source: GARD)
Topic: Spastic paraplegia 39
Question: What are the symptoms of Spastic paraplegia 39 ?
Answer: What are the signs and symptoms of Spastic paraplegia 39? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia 39. 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) Ataxia 5% Cerebellar atrophy 5% Atrophy of the spinal cord - Autosomal recessive inheritance - Babinski sign - Distal amyotrophy - Distal lower limb muscle weakness - Gait disturbance - Hyperreflexia - Progressive spastic paraplegia - 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.
(Source: GARD)