bowang0911/MedQuAD huggingface dataset:
How might autoimmune hepatitis be treated? Some people with mild forms of autoimmune hepatitis may not need to take medication. Doctors assess each patient individually to determine whether those with mild autoimmune hepatitis should undergo treatment. Treatment works best when autoimmune hepatitis is diagnosed early. With proper treatment, autoimmune hepatitis can usually be controlled. In fact, studies show that sustained response to treatment stops the disease from getting worse and may reverse some of the damage. The primary treatment is medicine to suppress, or slow down, an overactive immune system. Prednisone or other corticosteroids help reduce the inflammation. Azathioprine and mercaptopurine are drugs used to treat other autoimmune disorders, which have shown to help patients with autoimmune hepatitis as well. In about seven out of 10 people, the disease goes into remission within 3 years of starting treatment. Remission occurs when symptoms disappear and lab tests show improvement in liver function. Some people can eventually stop treatment, although many will see the disease return. People who stop treatment must carefully monitor their condition and promptly report any new symptoms to their doctor. Treatment with low doses of prednisone or azathioprine may be necessary on and off for years, if not for life. People who do not respond to standard immune therapy or who have severe side effects may benefit from other immunosuppressive agents such as mycophenylate mofetil, cyclosporine, or tacrolimus. People who progress to end-stage liver diseasealso called liver failureor cirrhosis may need a liver transplant. Transplantation has a 1-year survival rate of 90 percent and a 5-year survival rate of 70 to 80 percent.
What are the signs and symptoms of Hyperinsulinemic hypoglycemia familial 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Hyperinsulinemic hypoglycemia familial 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 - Diabetes mellitus - Hyperinsulinemic hypoglycemia - Hypoglycemic coma - Hypoglycemic seizures - 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.
What are the signs and symptoms of Hydrolethalus syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hydrolethalus 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) Polyhydramnios 92% Severe hydrocephalus 92% Microphthalmia 86% Postaxial hand polydactyly 77% Cleft in skull base 76% Stillbirth 73% Abnormality of the pinna 70% Low-set ears 70% Abnormal lung lobation 66% Laryngeal hypoplasia 57% Tracheal stenosis 57% Cleft palate 55% Talipes equinovarus 52% Complete atrioventricular canal defect 48% Duplication of phalanx of hallux 47% Bifid uterus 33% Hypospadias 33% Upper limb undergrowth 24% Hydronephrosis 16% Abnormal cortical gyration - Abnormality of the vagina - Absent septum pellucidum - Accessory spleen - Adrenal gland dysgenesis - Agenesis of corpus callosum - Agenesis of the diaphragm - Arrhinencephaly - Autosomal recessive inheritance - Bifid nose - Broad neck - Dandy-Walker malformation - Heterotopia - Intrauterine growth retardation - Median cleft lip - Omphalocele - Preaxial hand polydactyly - Proximal tibial hypoplasia - 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.
What are the signs and symptoms of Succinic acidemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Succinic acidemia. 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 - Lactic acidosis - Respiratory distress - 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.
Potassium aggravated myotonia is a group of diseases that causes tensing and stiffness (myotonia) of skeletal muscles, which are the muscles used for movement.  The three types of potassium-aggravated myotonia include myotonia fluctuans, myotonia permanens, and acetazolamide-sensitive myotonia.  Potassium aggravated myotonia is different from other types of myotonia because symptoms get worse when an affected individual eats food that is rich in potassium.  Symptoms usually develop during childhood and vary, ranging from infrequent mild episodes to long periods of severe disease.  Potassium aggravated myotonia is an inherited condition that is caused by changes (mutations) in the SCN4A gene.  Treatment begins with avoiding foods that contain large amounts of potassium; other treatments may include physical therapy (stretching or massages to help relax muscles) or certain medications (such as mexiletine, carbamazapine, or acetazolamide).
What are the signs and symptoms of Potassium aggravated myotonia? The Human Phenotype Ontology provides the following list of signs and symptoms for Potassium aggravated myotonia. 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% Flexion contracture 90% Hypertonia 90% Myalgia 90% Myotonia 90% Chest pain 50% Feeding difficulties in infancy 50% Gait disturbance 50% Abnormality of the nose 7.5% Abnormality of the voice 7.5% Asthma 7.5% Cognitive impairment 7.5% Elevated serum creatine phosphokinase 7.5% Epicanthus 7.5% Hyperkalemia 7.5% Hyperlordosis 7.5% Hypothyroidism 7.5% Limitation of joint mobility 7.5% Long philtrum 7.5% Muscle weakness 7.5% Muscular edema 7.5% Myopathy 7.5% Ophthalmoparesis 7.5% Paresthesia 7.5% Respiratory insufficiency 7.5% Short neck 7.5% Short stature 7.5% Skeletal muscle atrophy 7.5% Skeletal muscle hypertrophy 7.5% Apneic episodes in infancy - Autosomal dominant inheritance - Muscle stiffness - Stridor - 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.
What are the signs and symptoms of Corneal dystrophy of Bowman layer type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Corneal dystrophy of Bowman layer type 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) Autosomal dominant inheritance - Corneal dystrophy - Corneal erosion - Opacification of the corneal stroma - Photophobia - Strabismus - 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.
What are the signs and symptoms of Synostoses, tarsal, carpal, and digital? The Human Phenotype Ontology provides the following list of signs and symptoms for Synostoses, tarsal, carpal, and digital. 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) Anonychia - Aplasia/Hypoplasia of the middle phalanges of the hand - Autosomal dominant inheritance - Carpal synostosis - Metacarpophalangeal synostosis - Radial head subluxation - Short metacarpal - Tarsal synostosis - Underdeveloped nasal alae - 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.
Pontocerebellar hypoplasia type 2 (PCH2) is a rare condition that affects the development of the brain. Signs and symptoms vary but may include microcephaly, developmental delay with lack of voluntary motor development, intellectual disability and movement disorders (i.e. chorea, dystonia, and spasticity). Affected people may also experience dysphagia (difficulty swallowing), impaired vision, seizures and an inability to communicate. Children with this condition often pass away prior to age 10 years, although survival beyond age 20 years has been reported. PCH2 is caused by changes (mutations) in the TSEN54, TSEN2, TSEN34, or SEPSECS gene and is inherited in an autosomal recessive manner. Treatment is supportive and based on the signs and symptoms present in each person.
What are the signs and symptoms of Pontocerebellar hypoplasia type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Pontocerebellar hypoplasia type 2. 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) Death in childhood 7.5% Cerebral atrophy 5% Cerebral cortical atrophy 5% Cortical gyral simplification 5% Ventriculomegaly 5% Abnormality of the periventricular white matter - Autosomal recessive inheritance - Babinski sign - Cerebellar hemisphere hypoplasia - Cerebellar hypoplasia - Cerebellar vermis hypoplasia - Chorea - Clonus - Congenital onset - Dystonia - Extrapyramidal dyskinesia - Feeding difficulties - Gliosis - Hypoplasia of the brainstem - Hypoplasia of the corpus callosum - Hypoplasia of the pons - Impaired smooth pursuit - Limb hypertonia - Microcephaly - Muscular hypotonia of the trunk - Opisthotonus - Poor suck - Progressive microcephaly - Restlessness - Seizures - Severe global developmental delay - Sloping forehead - 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.
What are the signs and symptoms of Weissenbacher-Zweymuller syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Weissenbacher-Zweymuller 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 pelvic girdle bone morphology - Autosomal dominant inheritance - Cleft palate - Coronal cleft vertebrae - Depressed nasal bridge - Dumbbell-shaped long bone - Enlarged epiphyses - Hypertelorism - Pierre-Robin sequence - Proptosis - Rhizomelia - Sensorineural hearing 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.
Ehlers-Danlos syndrome (EDS), kyphoscoliosis type is an inherited connective tissue disorder that is caused by defects in a protein called collagen. Common signs and symptoms include hyperextensible skin that is fragile and bruises easily; joint hypermobility; severe hypotonia at birth; progressive kyphoscoliosis (kyphosis and scoliosis); and fragility of the sclera. EDS, kyphoscoliosis type is caused by changes (mutations) in the PLOD1 gene and is inherited in an autosomal recessive manner. Treatment is focused on preventing serious complications and relieving associated signs and symptoms.
What causes Ehlers-Danlos syndrome, kyphoscoliosis type? Ehlers-Danlos syndrome (EDS), kyphoscoliosis type is caused by changes (mutations) in the PLOD1 gene. This gene encodes an enzyme that helps process molecules which allow collagen to form stable interactions with one another. Collagen is a protein that provides structure and strength to connective tissues throughout the body. Mutations in the PLOD1 gene lead to reduced levels of functional enzyme which disrupt networks of collagen throughout the body. This weakens the connective tissues and leads to the characteristic signs and symptoms associated with EDS, kyphoscoliosis type.
Is Ehlers-Danlos Syndrome, kyphoscoliotic type inherited? Ehlers-Danlos syndrome, kyphoscoliosis type is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier.
How is Ehlers-Danlos syndrome, kyphoscoliosis type diagnosed? A diagnosis of Ehlers-Danlos syndrome (EDS), kyphoscoliosis type is typically based on the presence of characteristic signs and symptoms. The following tests may then be recommended to confirm the diagnosis: Urine tests and/or a skin biopsy to detect deficiencies in certain enzymes that are important for collagen formation Genetic testing for a change (mutation) in the PLOD1 gene
How might Ehlers-Danlos syndrome, kyphoscoliosis type be treated? The treatment of Ehlers-Danlos syndrome (EDS), kyphoscoliosis type is focused on preventing serious complications and relieving associated signs and symptoms. For example, physical therapy may be recommended in children with hypotonia and delayed motor development. This treatment can also help improve joint stability. Assistive devices such as braces may be necessary depending on the severity of joint instability. Depending on the severity of the kyphoscoliosis (kyphosis and scoliosis), surgery may be necessary. Because EDS, kyphoscoliosis type is associated with fragile skin with abnormal wound healing, affected people, especially children, may need to wear protective bandages or pads over exposed areas, such as the knees, shins, and forehead. Regular follow-up may be recommended to check for development or progression of abnormalities of the eyes, cardiovascular system, and other parts of the body. GeneReview's Web site offers more specific information regarding the treatment and management of EDS, kyphoscoliosis type. Please click on the link to access this resource. Please speak to your healthcare provider if you have any questions about your personal medical management plan.
What are the signs and symptoms of Kleiner Holmes syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kleiner Holmes 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) Sandal gap 90% Clinodactyly of the 5th finger 50% Autosomal recessive inheritance - Broad hallux - Hallux varus - Preaxial hand polydactyly - Syndactyly - 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.
What are the signs and symptoms of Heart-hand syndrome, Slovenian type? The Human Phenotype Ontology provides the following list of signs and symptoms for Heart-hand syndrome, Slovenian 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) Myopathy 5% Aplasia of the middle phalanx of the hand - Autosomal dominant inheritance - Brachydactyly syndrome - Clinodactyly - Dilated cardiomyopathy - Syndactyly - 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.