Druvith/medqa1 huggingface dataset:
Question:  What are the treatments for Freiberg's disease ?
Answer: How might Freiberg's disease be treated? The treatment of Freiberg's disease depends on many factors, including the severity of condition; the signs and symptoms present; and the age of the patient. The primary goal of therapy is to rest the joint and reduce pain and swelling. A more conservative treatment approach is typically attempted initially which may include modification of activities with different types of casts, crutches and/or shoe inserts, as needed. Medications such as nonsteroidal anti-inflammatory drugs (NSAIDs) may be recommended to manage pain. If other treatments are not effective, surgery may be necessary. Medscape Reference's Web site offers more specific information regarding the different surgical procedures used to treat Freiberg's disease. Please click on the link to access the resource.
Question:  What is (are) Childhood hypophosphatasia ?
Answer: Childhood hypophosphatasia is a form of hypophosphatasia, a rare condition that affects the bones. Childhood hypophosphatasia, specifically, is generally diagnosed when the condition develops after six months of age but before adulthood. Signs and symptoms vary but may include delayed motor milestones; low bone mineral density for age; early loss of baby teeth (before age 5); bone and joint pain; short stature; a waddling gait; skeletal malformations; and/or unexplained broken bones. The forms of hypophosphatasia that develop during childhood are generally more mild than those that appear in infancy. Childhood hypophosphatasia is caused by changes (mutations) in the ALPL gene and can be inherited in an autosomal dominant or autosomal recessive manner. Treatment is supportive and based on the signs and symptoms present in each person. Recently an enzyme replacement therapy (ERT) called asfotase alfa has been show to improve bone symptoms in people with childhood hypophosphatasia and has been approved by the FDA.
Question:  What are the symptoms of Childhood hypophosphatasia ?
Answer: What are the signs and symptoms of Childhood hypophosphatasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Childhood hypophosphatasia. 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 - Bowing of the legs - Carious teeth - Craniosynostosis - Dolichocephaly - Elevated plasma pyrophosphate - Elevated urine pyrophosphate - Frontal bossing - Low alkaline phosphatase - Myopathy - Phosphoethanolaminuria - Premature loss of primary teeth - Proptosis - Rachitic rosary - Seizures - Short stature - Skin dimple over apex of long bone angulation - Waddling 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 is (are) Herpes zoster oticus ?
Answer: Herpes zoster oticus is a common complication of shingles, an infection caused by the varicella-zoster virus (which is the virus that also causes chickenpox). Shingles occurs in people who have had chickenpox and the varicella-zoster virus becomes active again. Herpes zoster oticus is caused by the spread of the virus to facial nerves and can cause intense ear pain; a rash around the ear, mouth, face, neck, and scalp; and paralysis of the face. Other symptoms may include hearing loss, vertigo (feeling that the room is spinning), tinnitus (hearing abnormal sounds), loss of taste in the tongue, and dry mouth and eyes. Some cases of herpes zoster oticus do not require treatment, but when treatment is needed, pain medications, antiviral drugs or corticosteroids may be prescribed. Vertigo is sometimes treated with medication as well. The prognosis of herpes zoster oticus is typically good but in some cases, hearing loss or facial paralysis may be permanent.
Question:  What are the treatments for Herpes zoster oticus ?
Answer: How might herpes zoster oticus be treated? Treatment for herpes zoster oticus typically includes anti-inflammatory drugs called steroids, which may reduce the inflammation of the nerves and help to ease the pain. Antiviral medications are usually prescribed, although whether antiviral medications are beneficial for treating this condition has not been confirmed. Strong pain medications may be prescribed if the pain continues. An eye patch may be recommended to prevent injury to the cornea (corneal abrasion) and damage to the eye if it does not close completely. Vertigo (feeling that the room is spinning) and dizziness may be treated with other medications.
Question:  What is (are) Noonan-like syndrome with loose anagen hair ?
Answer: Noonan-like syndrome with loose anagen hair is characterized  by facial features suggestive of Noonan syndrome (macrocephaly, high forehead, wide-set eyes or hypertelorism, palpebral ptosis, and low-set and posteriorly rotated ears) along with hair that resembles loose anagen hair syndrome (pluckable, sparse, thin and slow-growing). Other features include frequent congenital heart defects, distinctive skin features (darkly pigmented skin with eczema or ichthyosis), short stature which may be associated with a growth hormone deficiency, and developmental delays. The condition is caused by mutations in the SHOC2 gene. It follows an autosomal dominant pattern of inheritance.
Question:  What are the symptoms of Noonan-like syndrome with loose anagen hair ?
Answer: What are the signs and symptoms of Noonan-like syndrome with loose anagen hair? The Human Phenotype Ontology provides the following list of signs and symptoms for Noonan-like syndrome with loose anagen hair. 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 hair quantity 90% Delayed skeletal maturation 90% Low posterior hairline 90% Low-set, posteriorly rotated ears 90% Short nose 90% Short stature 90% Webbed neck 90% Abnormality of the pulmonary artery 50% Anteverted nares 50% Aplasia/Hypoplasia of the eyebrow 50% Deep philtrum 50% Epicanthus 50% Hydrocephalus 50% Hypertrophic cardiomyopathy 50% Macrotia 50% Pectus excavatum 50% Abnormality of the elbow 7.5% Abnormality of the fingernails 7.5% Abnormality of the intervertebral disk 7.5% Abnormality of the palate 7.5% Brachydactyly syndrome 7.5% Carious teeth 7.5% Cognitive impairment 7.5% Cryptorchidism 7.5% Hearing impairment 7.5% Hypertelorism 7.5% Hypoplastic toenails 7.5% Thick lower lip vermilion 7.5% Thin vermilion border 7.5% Eczema 5% Ichthyosis 5% Nasal speech 5% Atria septal defect - Autosomal dominant inheritance - Hyperactivity - Intellectual disability - Loose anagen hair - Low-set ears - Macrocephaly - Posteriorly rotated ears - Prominent forehead - Pulmonic stenosis - Short neck - Sparse scalp hair - Strabismus - Ventricular septal defect - 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 Dysequilibrium syndrome ?
Answer: What are the signs and symptoms of Dysequilibrium syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Dysequilibrium 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% Gait disturbance 90% Hyperreflexia 90% Incoordination 90% Muscular hypotonia 90% Hemiplegia/hemiparesis 50% Seizures 50% Short stature 50% Skeletal muscle atrophy 50% Strabismus 50% Cataract 7.5% Abnormality of metabolism/homeostasis - Autosomal recessive inheritance - Broad-based gait - Cerebellar atrophy - Cerebellar hypoplasia - Congenital onset - Cortical gyral simplification - Delayed speech and language development - Dysarthria - Dysdiadochokinesis - Dysmetria - Gait ataxia - Gaze-evoked nystagmus - Hypoplasia of the brainstem - Intellectual disability - Intention tremor - Nonprogressive - Pachygyria - Pes planus - Poor speech - Truncal ataxia - 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) Farber's disease ?
Answer: Farber's disease is an inherited condition involving the breakdown and use of fats in the body (lipid metabolism). People with this condition have an abnormal accumulation of lipids (fat) throughout the cells and tissues of the body, particularly around the joints. Farber's disease is characterized by three classic symptoms: a hoarse voice or weak cry, small lumps of fat under the skin and in other tissues (lipogranulomas), and swollen and painful joints. Other symptoms may include difficulty breathing, an enlarged liver and spleen (hepatosplenomegaly), and developmental delay. Researchers have described seven types of Farber's disease based on their characteristic features. This condition is caused by mutations in the ASAH1 gene and is inherited in an autosomal recessive manner.
Question:  What are the symptoms of Farber's disease ?
Answer: What are the signs and symptoms of Farber's disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Farber'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) Arthralgia 90% Hepatomegaly 90% Joint swelling 90% Laryngomalacia 90% Limitation of joint mobility 90% Short stature 90% Abnormality of the skin 50% Abnormality of the voice 50% Kyphosis 50% Nystagmus 50% Recurrent respiratory infections 50% Reduced bone mineral density 50% Respiratory insufficiency 50% Skeletal muscle atrophy 50% Abnormality of the macula 7.5% Cognitive impairment 7.5% Opacification of the corneal stroma 7.5% Pulmonary fibrosis 7.5% Splenomegaly 7.5% Arthritis - Autosomal recessive inheritance - Cherry red spot of the macula - Failure to thrive - Hoarse cry - Intellectual disability - Irritability - Lipogranulomatosis - Motor delay - Periarticular subcutaneous nodules - Progressive - Variable expressivity - 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) Multifocal motor neuropathy ?
Answer: Multifocal motor neuropathy (MMN) is a rare neuropathy characterized by progressive, asymmetric muscle weakness and atrophy (wasting). Signs and symptoms include weakness in the hands and lower arms; cramping; involuntary contractions or twitching; and atrophy of affected muscles. MMN is thought to be due to an abnormal immune response, but the underlying cause is not clear. Most people treated with intravenous immune globulin (IVIG) have rapid improvement in weakness, but maintenance IVIG is usually required for sustained improvement.
Question:  What are the symptoms of Multifocal motor neuropathy ?
Answer: What are the signs and symptoms of multifocal motor neuropathy? Signs and symptoms of multifocal motor neuropathy (MMN) may include weakness; cramping; involuntary contractions or twitching; and wasting (atrophy) of affected muscles. Atrophy occurs late in the course of the condition. Muscles of the hands and lower arms are most commonly affected, but muscles of the lower limbs may also be involved. The symptoms are often asymmetrical, meaning that they differ on the right and left side of the body.
Question:  What causes Multifocal motor neuropathy ?
Answer: What causes multifocal motor neuropathy? The exact underlying cause of multifocal motor neuropathy (MMN) is poorly understood. It is considered an immune-mediated disorder (due to an abnormal immune system response), both because IVIG therapy improves symptoms, and many patients have anti-GM1 antibodies. Research to further understand the cause of MMN is underway.
Question:  Is Multifocal motor neuropathy inherited ?
Answer: Is multifocal motor neuropathy inherited? We are not aware of any evidence that multifocal motor neuropathy (MMN) is inherited or of any reports of familial cases (occurring in more than one person in a family). Furthermore, to our knowledge, no specific genes known to be associated with MMN have been identified.
Question:  What are the treatments for Multifocal motor neuropathy ?
Answer: How might multifocal motor neuropathy be treated? Multifocal motor neuropathy (MMN) is considered treatable with intravenous immune globulin (IVIG). Early treatment shortly after symptoms begin is recommended. Most people have a fairly rapid improvement in weakness with IVIG, but the improvement generally does not last beyond a few months. Maintenance IVIG infusions are usually needed every two to six weeks. For those with severe disease whose symptoms don't respond to IVIG (or for those who become resistant), treatment options are limited. Several reports have suggested that cyclophosphamide may be partially effective.
Question:  What are the symptoms of Porokeratosis, disseminated superficial actinic 1 ?
Answer: What are the signs and symptoms of Porokeratosis, disseminated superficial actinic 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Porokeratosis, disseminated superficial actinic 1. 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) Nail dystrophy 5% Autosomal dominant inheritance - Porokeratosis - 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 Cryptomicrotia brachydactyly syndrome ?
Answer: What are the signs and symptoms of Cryptomicrotia brachydactyly syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Cryptomicrotia brachydactyly 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) Abnormal dermatoglyphics 90% Short distal phalanx of finger 90% Bifid scrotum 50% Freckling 50% Hypoplastic toenails 50% Telecanthus 50% Autosomal dominant inheritance - Brachytelomesophalangy - Chordee - Microtia - 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 Transcobalamin 1 deficiency ?
Answer: What are the signs and symptoms of Transcobalamin 1 deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Transcobalamin 1 deficiency. 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 metabolism/homeostasis - Autosomal dominant inheritance - Autosomal recessive inheritance - Paresthesia - 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 Benign familial neonatal-infantile seizures ?
Answer: What are the signs and symptoms of Benign familial neonatal-infantile seizures? The Human Phenotype Ontology provides the following list of signs and symptoms for Benign familial neonatal-infantile 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) Autosomal dominant inheritance - Bilateral convulsive seizures - Cyanosis - Dialeptic seizures - Focal seizures - Focal seizures, afebril - Normal interictal EEG - 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) Crigler Najjar syndrome, type 1 ?
Answer: Crigler Najjar syndrome, type 1 is an inherited disorder in which bilirubin, a substance made by the liver, cannot be broken down. This condition occurs when the enzyme that normally converts bilirubin into a form that can easily be removed from the body does not work correctly. Without this enzyme, bilirubin can build up in the body and lead to jaundice and damage to the brain, muscles, and nerves. Crigler Najjar syndrome, type 1 is caused by mutations in the UGT1A1 gene. The condition is inherited in an autosomal recessive manner. Treatment relies on regular phototherapy throughout life. Blood transfusions and calcium compounds have also been used. Liver transplantation may be considered in some individuals.