falan42/medcuad_data huggingface dataset:
Topic: Mnire's disease
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.
(Source: GARD)
Topic: Eosinophilic fasciitis
Question: What is (are) Eosinophilic fasciitis ?
Answer: Eosinophilic fasciitis is a very rare condition in which muscle tissue underneath the skin, called fascia, becomes swollen and thick. Rapid swelling can occur in the hands, arms, legs, and feet. People with this condition have a buildup of eosinophils, a type of white blood cell, in the affected fascia and muscles. The exact cause of this condition is unknown. Corticosteroids and other immune-suppressing medications are used to relieve the symptoms. Eosinophilic fasciitis is similar in appearance to scleroderma but is not related.
(Source: GARD)
Topic: Eosinophilic fasciitis
Question: What are the symptoms of Eosinophilic fasciitis ?
Answer: What are the signs and symptoms of Eosinophilic fasciitis? The Human Phenotype Ontology provides the following list of signs and symptoms for Eosinophilic fasciitis. 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) Acrocyanosis 90% Cellulitis 90% Hypermelanotic macule 90% Muscular edema 90% Myalgia 90% Arthralgia 50% Arthritis 50% Myositis 7.5% Paresthesia 7.5% Weight loss 7.5% Autosomal recessive inheritance - Eosinophilic fasciitis - 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: Eosinophilic fasciitis
Question: What are the treatments for Eosinophilic fasciitis ?
Answer: How might eosinophilic fasciitis be treated? About 10-20% of people with eosinophilic fasciitis recover spontaneously without treatment.  For those who do not, glucocorticoids (0.51 mg/kg/d), such as prednisone, are the mainstay therapy. Even with treatment, improvement in symptoms can take weeks or months. Glucocorticoids are successful in treating eosionophilic fasciitis in over 70% of cases. If glucocorticoids are unsuccessful, methotrexate at low doses (1525 mg once weekly) is probably the most favored second-line treatment, especially in people with reddish to purpleish (morphea-like) skin lesions.  Other treatment options include NSAIDs, D-penicillamine, chloroquine, cimetidine, azathioprine, cyclosporin A, infliximab, UVA-1, and bath PUVA. Physical therapy may help improve joint mobility and decrease contractures. Surgical release has been used in some severe cases to manage significant joint contractures.
(Source: GARD)
Topic: Madokoro Ohdo Sonoda syndrome
Question: What are the symptoms of Madokoro Ohdo Sonoda syndrome ?
Answer: What are the signs and symptoms of Madokoro Ohdo Sonoda syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Madokoro Ohdo Sonoda 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 metabolism/homeostasis - Absent lacrimal punctum - Autosomal recessive inheritance - Bulbous nose - Constipation - Cryptorchidism - Downturned corners of mouth - Ectodermal dysplasia - High, narrow palate - Hypoplastic lacrimal duct - Hypotrichosis - Intellectual disability - Preauricular pit - Sacral dimple - Tetraamelia - Umbilical hernia - Upslanted palpebral fissure - Wide mouth - 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: Myotonia congenita autosomal dominant
Question: What is (are) Myotonia congenita autosomal dominant ?
Answer: Myotonia congenita is a genetic condition characterized by the inability of the skeletal muscles to quickly relax after a voluntary movement.  The symptoms associated with the condition typically appear in childhood and vary from person to person. There are two forms of the disorder:  Becker type, which is the most common form; and Thomsen disease, which is a rare and milder form. Both conditions are caused by mutations in the CLCN1 gene.  However, the conditions have different modes of inheritance.  The Becker type is inherited in an autosomal recessive fashion, and the Thomsen type is inherited in an autosomal dominant manner.
(Source: GARD)
Topic: Myotonia congenita autosomal dominant
Question: What are the symptoms of Myotonia congenita autosomal dominant ?
Answer: What are the signs and symptoms of Myotonia congenita autosomal dominant? The Human Phenotype Ontology provides the following list of signs and symptoms for Myotonia congenita autosomal dominant. 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) EMG abnormality 90% Myotonia 90% Muscle weakness 75% Myalgia 5% Myotonia with warm-up phenomenon 27/27 Percussion myotonia 26/27 Muscle stiffness 25/27 Skeletal muscle hypertrophy 7/9 Myalgia 11/27 Autosomal dominant inheritance - Autosomal recessive inheritance - Childhood onset - Dysphagia - EMG: myotonic runs - Handgrip myotonia - Muscle hypertrophy of the lower extremities - Phenotypic variability - 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: Progressive pseudorheumatoid arthropathy of childhood
Question: What is (are) Progressive pseudorheumatoid arthropathy of childhood ?
Answer: Progressive pseudorheumatoid arthropathy of childhood (PPAC) is a disorder of bone and cartilage that affects many joints. Major signs and symptoms include stiff joints (contractures), short stature, and widening of the ends of the finger and toe bones as well as other tubular bones. PPAC may initially be mistaken for juvenile rheumatoid arthritis, however people with this condition do not have the laboratory test results of juvenile rheumatoid arthritis. PPAC is caused by a mutation in the WISP3 gene and is inherited in an autosomal recessive pattern. People with PPAC typically need joint replacement surgery at an early age. Other forms of spondyloepiphyseal dysplasia tarda include: X-linked spondyloepiphyseal dysplasia tarda  Autosomal dominant spondyloepiphyseal dysplasia tarda  Spondyloepiphyseal dysplasia tarda Toledo type
(Source: GARD)
Topic: Progressive pseudorheumatoid arthropathy of childhood
Question: What are the symptoms of Progressive pseudorheumatoid arthropathy of childhood ?
Answer: What are the signs and symptoms of Progressive pseudorheumatoid arthropathy of childhood? The Human Phenotype Ontology provides the following list of signs and symptoms for Progressive pseudorheumatoid arthropathy of childhood. 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 hip bone 90% Limitation of joint mobility 90% Short stature 90% Abnormal form of the vertebral bodies 50% Abnormality of the knees 50% Kyphosis 50% Osteoarthritis 50% Scoliosis 50% Abnormality of the foot - Arthropathy - Autosomal recessive inheritance - Camptodactyly of finger - Coxa vara - Decreased cervical spine mobility - Difficulty walking - Enlarged epiphyses - Enlarged interphalangeal joints - Enlarged metacarpophalangeal joints - Enlargement of the proximal femoral epiphysis - Flattened epiphysis - Genu varum - Joint stiffness - Joint swelling - Kyphoscoliosis - Metaphyseal widening - Muscle weakness - Osteoporosis - Platyspondyly - Sclerotic vertebral endplates - 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.
(Source: GARD)
Topic: Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
Question: What are the symptoms of Autosomal recessive Charcot-Marie-Tooth disease with hoarseness ?
Answer: What are the signs and symptoms of Autosomal recessive Charcot-Marie-Tooth disease with hoarseness? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal recessive Charcot-Marie-Tooth disease with hoarseness. 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) Onion bulb formation 7.5% Areflexia - Autosomal recessive inheritance - Axonal degeneration/regeneration - Decreased motor nerve conduction velocity - Decreased number of peripheral myelinated nerve fibers - Distal amyotrophy - Distal muscle weakness - Distal sensory impairment - Flexion contracture - Neonatal onset - Pes cavus - Spinal deformities - Split hand - Vocal cord paresis - 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: Conductive deafness with malformed external ear
Question: What are the symptoms of Conductive deafness with malformed external ear ?
Answer: What are the signs and symptoms of Conductive deafness with malformed external ear? The Human Phenotype Ontology provides the following list of signs and symptoms for Conductive deafness with malformed external ear. 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) Conductive hearing impairment 90% Low-set, posteriorly rotated ears 90% Abnormality of the palate 50% Cognitive impairment 50% Overfolded helix 50% Atresia of the external auditory canal 7.5% Hernia of the abdominal wall 7.5% Preauricular skin tag 7.5% Sensorineural hearing impairment 7.5% Abnormality of the middle ear ossicles - Autosomal recessive inheritance - Hypogonadism - Intellectual disability - 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: Chromosome 8p deletion
Question: What is (are) Chromosome 8p deletion ?
Answer: Chromosome 8p deletion is a chromosome abnormality that affects many different parts of the body. People with this condition are missing genetic material located on the short arm (p) of chromosome 8 in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the deletion and which genes are involved. Most cases are not inherited, although affected people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.
(Source: GARD)
Topic: Monomelic amyotrophy
Question: What are the symptoms of Monomelic amyotrophy ?
Answer: What are the signs and symptoms of Monomelic amyotrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Monomelic amyotrophy. 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 upper limb 90% Asymmetric growth 90% EMG abnormality 90% Acrocyanosis 50% Decreased nerve conduction velocity 50% Abnormality of the immune system 7.5% Involuntary movements 7.5% Tremor 7.5% EMG: neuropathic changes - Fasciculations - Insidious onset - Interosseus muscle atrophy - Sporadic - Upper limb muscle weakness - 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: Palant cleft palate syndrome
Question: What are the symptoms of Palant cleft palate syndrome ?
Answer: What are the signs and symptoms of Palant cleft palate syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Palant cleft palate 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) Autosomal recessive inheritance - Bulbous nose - Cleft palate - Contracture of the proximal interphalangeal joint of the 4th finger - Contracture of the proximal interphalangeal joint of the 5th finger - Exaggerated cupid's bow - Intellectual disability, progressive - Intellectual disability, severe - Motor delay - Short stature - Upslanted palpebral fissure - 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: Optic atrophy polyneuropathy deafness
Question: What are the symptoms of Optic atrophy polyneuropathy deafness ?
Answer: What are the signs and symptoms of Optic atrophy polyneuropathy deafness? The Human Phenotype Ontology provides the following list of signs and symptoms for Optic atrophy polyneuropathy 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) Areflexia - Autosomal recessive inheritance - Broad-based gait - Distal muscle weakness - Distal sensory impairment - Distal upper limb amyotrophy - Gait ataxia - Joint contracture of the hand - Optic atrophy - Pectus excavatum - Peripheral demyelination - Positive Romberg sign - Progressive sensorineural hearing impairment - Short thumb - Thoracic scoliosis - Ulnar deviation of the hand - Variable expressivity - Visual impairment - 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)