bowang0911/MedQuAD huggingface dataset:
How might Duchenne muscular dystrophy be treated? There is no known cure for Duchenne muscular dystrophy (DMD). Treatment is aimed at the control of symptoms to maximize the quality of life. Individuals with DMD often experience dilated cardiomyopathy (the heart becomes larger and weaker). This can be treated with medications and in severe cases a heart transplant may be necessary. Assistive devices for breathing difficulties may be needed, especially at night.   Physical activity is encouraged for individuals with Duchenne muscular dystrophy. Physical inactivity (such as bed rest) can worsen the muscle disease. Physical therapy may be helpful to maintain muscle strength and function. Orthopedic devices (such as braces and wheelchairs) may improve the ability to move and take care of oneself.   Steroids are usually given to individuals with Duchenne muscular dystrophy to help improve the strength and function of muscles. There are a few different steroids that can be used to treat DMD:   Prednisone is a steroid that has been shown to extend the ability to walk by 2 to 5 years. However, the possible side effects of prednisone include weight gain, high blood pressure, behavior changes, and delayed growth. Deflazacort (another form of prednisone), is used in Europe and believed to have fewer side effects. Oxandrolone, a medication used in a research study, also has similar benefits to prednisone, but with fewer side effects. Cyclosporine has also been used as a treatment for DMD, and has improved muscle function in children. Although, its use is controversial because it can cause myopathy, which is a muscle disease that causes muscle weakness.   There are several other therapies that are also being researched, including exon skipping drugs, coenzyme Q10, idebenone, glutamine, and pentoxifylline.
Hypokalemic periodic paralysis is a condition that causes episodes of extreme muscle weakness typically beginning in childhood or adolescence. Most often, these episodes involve a temporary inability to move muscles in the arms and legs. The duration and frequency of the episodes may vary. Hypokalemic periodic paralysis is caused by mutations in the CACNA1S and SCN4A genes which are inherited in an autosomal dominant fashion. A small percentage of people with the characteristic features of hypokalemic periodic paralysis do not have identified mutations in these genes. In these cases, the cause of the condition is unknown. Paralytic crises can be treated with oral or IV potassium. Other management includes prevention of crises and support of specific symptoms.
What are the signs and symptoms of Hypokalemic periodic paralysis? Hypokalemic periodic paralysis involves attacks of muscle weakness or loss of muscle movement (paralysis) that come and go. The weakness or paralysis is most commonly located in the shoulders and hips, affecting the muscles of the arms and legs. Muscles of the eyes and those that help you breathe and swallow may also be affected. There is normal muscle strength between attacks.  Attacks usually begin in adolescence, but they can occur before age 10. How often the attacks occur varies. Some people have attacks every day, while others have them once a year. Episodes of muscle weakness usually last between a few hours and a day. Attacks can occur without warning or can be triggered by factors such as rest after exercise, a viral illness, or certain medications. Often, a large, carbohydrate-rich meal, alcohol, or vigorous exercise in the evening can trigger an attack upon waking the following morning. Although affected individuals usually regain their muscle strength between attacks, repeated episodes can lead to persistent muscle weakness later in life. People with hypokalemic periodic paralysis have reduced levels of potassium in their blood (hypokalemia) during episodes of muscle weakness. Researchers are investigating how low potassium levels may be related to the muscle abnormalities in this condition. The Human Phenotype Ontology provides the following list of signs and symptoms for Hypokalemic periodic paralysis. 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 7.5% Autosomal dominant inheritance - Episodic flaccid weakness - Hypokalemia - Incomplete penetrance - Periodic hyperkalemic paralysis - 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 causes hypokalemic periodic paralysis? Hypokalemic periodic paralysis is caused by mutations in the CACNA1S and SCN4A genes. The CACNA1S and SCN4A genes provide instructions for making proteins that play an essential role in muscles used for movement (skeletal muscles). For the body to move normally, these muscles must tense (contract) and relax in a coordinated way. Muscle contractions are triggered by the flow of certain positively charged atoms (ions) into muscle cells. The CACNA1S and SCN4A proteins form channels that control the flow of these ions. The channel formed by the CACNA1S protein transports calcium ions into cells, while the channel formed by the SCN4A protein transports sodium ions. Mutations in the CACNA1S or SCN4A gene alter the usual structure and function of calcium or sodium channels. The altered channels cannot properly regulate the flow of ions into muscle cells, which reduces the ability of skeletal muscles to contract. Because muscle contraction is needed for movement, a disruption in normal ion transport leads to episodes of severe muscle weakness or paralysis. A small percentage of people with the characteristic features of hypokalemic periodic paralysis do not have identified mutations in the CACNA1S or SCN4A gene. In these cases, the cause of the condition is unknown.
How is hypokalemic periodic paralysis diagnosed? The diagnosis of hypokalemic periodic paralysis is based on a history of episodes of paralysis and low levels of potassium in the blood during attacks (less than 0.9 to 3.0 mmol/L), but not between attacks. An important part of the diagnosis is to rule out other potential causes, including myotonia, hyperthyroidism, and arrhythmia. Affected individuals typically have a family history consistent with autosomal dominant inheritance. Genetic testing is available for hypokalemic periodic paralysis. Of all individuals meeting diagnostic criteria for this condition, approximately 55 to 70 percent have mutations in the CACNA1S gene, and approximately 8 to 10 percent have mutations in the SCN4A gene. GeneTests lists the names of laboratories that perform clinical genetic testing of the CACNA1S and SCN4A genes for hypokalemic periodic paralysis. When a disease-causing mutation is identified in an affected individual, genetic testing can be performed for at-risk, asymptomatic family members. Please note:  Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.  See below for a list of online resources that can assist you in locating a genetics professional near you.
Brittle cornea syndrome (BCS) is a type of connective tissue disorder that mainly affects the eyes, joints and skin. Signs and symptoms may include rupture of the cornea after only minor trauma; degeneration of the cornea (keratoconus) or thinning and protrusion of the cornea (keratoglobus); bluish tint in the white part of the eyes (blue sclerae); hypermobile joints; hyperelastic skin; hearing defects; and dental abnormalities. There are 2 types of BCS which are distinguished by the mutated gene that causes the condition. BCS type 1 is caused by mutations in the ZNF469 gene and BCS type 2 is caused by mutations in the PRDM5 gene. BCS is inherited in an autosomal recessive manner.
What are the signs and symptoms of Brittle cornea syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Brittle cornea 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) Corneal dystrophy 90% Decreased corneal thickness 90% Myopia 90% Atypical scarring of skin 50% Blue sclerae 50% Bruising susceptibility 50% Conductive hearing impairment 50% Gait disturbance 50% Joint hypermobility 50% Myalgia 50% Reduced bone mineral density 50% Sensorineural hearing impairment 50% Visual impairment 50% Abnormality of epiphysis morphology 7.5% Abnormality of the hip bone 7.5% Abnormality of the mitral valve 7.5% Abnormality of the pulmonary valve 7.5% Abnormality of the teeth 7.5% Cleft palate 7.5% Corneal erosion 7.5% Glaucoma 7.5% Hernia 7.5% Recurrent fractures 7.5% Retinal detachment 7.5% Scoliosis 7.5% Flat cornea 5% Inguinal hernia 5% Megalocornea 5% Sclerocornea 5% Umbilical hernia 5% Autosomal recessive inheritance - Congenital hip dislocation - Dentinogenesis imperfecta - Disproportionate tall stature - Epicanthus - Hearing impairment - Joint laxity - Keratoconus - Keratoglobus - Macrocephaly - Mitral valve prolapse - Molluscoid pseudotumors - Palmoplantar cutis laxa - Red hair - Spondylolisthesis - Visual loss - 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.
Syndromic microphthalmia, type 3 is a rare condition that affects the eyes and other parts of the body. Babies with this condition are generally born without eyeballs (anophthalmia) or with eyes that are unusually small (microphthalmia). Both of these abnormalities can be associated with severe vision loss. Other signs and symptoms of syndromic microphthalmia, type 3 may include seizures, brain malformations, esophageal atresia, delayed motor development, learning disabilities, and sensorineural hearing loss. The condition is caused by changes (mutations) in the SOX2 gene and is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person.
What are the signs and symptoms of Syndromic microphthalmia, type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Syndromic microphthalmia, 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) Aplasia/Hypoplasia affecting the eye 90% Tracheoesophageal fistula 90% Abnormal form of the vertebral bodies 50% Aplasia/Hypoplasia of the corpus callosum 50% Cryptorchidism 50% External ear malformation 50% Visual impairment 50% Abnormality of the ribs 7.5% Cognitive impairment 7.5% Displacement of the external urethral meatus 7.5% Holoprosencephaly 7.5% Hydrocephalus 7.5% Hypoplasia of penis 7.5% Iris coloboma 7.5% Patent ductus arteriosus 7.5% Sclerocornea 7.5% Ventricular septal defect 7.5% Agenesis of corpus callosum - Anophthalmia - Anterior pituitary hypoplasia - Autosomal dominant inheritance - Butterfly vertebrae - Coloboma - Esophageal atresia - Frontal bossing - Hemivertebrae - Hypogonadotrophic hypogonadism - Hypoplasia of the corpus callosum - Hypospadias - Hypothalamic hamartoma - Microcephaly - Micropenis - Microphthalmia - Missing ribs - Muscular hypotonia - Optic nerve hypoplasia - Postnatal growth retardation - Rib fusion - Sensorineural hearing impairment - Short stature - Spastic diplegia - Spastic tetraplegia - Specific learning disability - Supernumerary ribs - Vertebral fusion - Vertebral hypoplasia - 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 Limb-girdle muscular dystrophy type 2E? The Human Phenotype Ontology provides the following list of signs and symptoms for Limb-girdle muscular dystrophy type 2E. 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) Dilated cardiomyopathy 5% Autosomal recessive inheritance - Calf muscle pseudohypertrophy - Elevated serum creatine phosphokinase - Juvenile onset - Limb-girdle muscle weakness - Muscular dystrophy - Pelvic girdle muscle atrophy - Proximal amyotrophy - Scapular winging - Shoulder girdle muscle atrophy - 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 Irons Bhan syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Irons Bhan 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 nail - Atria septal defect - Atrial flutter - Autosomal recessive inheritance - Broad nasal tip - Delayed speech and language development - Depressed nasal bridge - Epicanthus - High forehead - Hydrocele testis - Lymphedema - Oligohydramnios - Omphalocele - Overriding aorta - Patent ductus arteriosus - Prominent forehead - Round face - Severe hydrops fetalis - Telecanthus - Upslanted palpebral fissure - Vascular ring - 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.
Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a condition that causes benign tumors of smooth muscle tissue in the skin (cutaneous leiomyomas) and in the uterus in females (uterine leiomyomas, or fibroids). The condition also increases the risk of kidney cancer. Signs and symptoms usually begin in adulthood as skin growths appear on the torso, arms, legs, and occasionally on the face. They tend to increase in size and number over time. About 10% to 16% of people with HLRCC develop a type of kidney cancer called renal cell cancer; symptoms of this cancer may include lower back pain, blood in the urine, and/or a mass in the kidney that can be felt by a physician. Some people have no symptoms until the cancer is advanced. HLRCC is caused by mutations in the FH gene and is inherited in an autosomal dominant manner.
What are the signs and symptoms of Hereditary leiomyomatosis and renal cell cancer? Signs and symptoms of hereditary leiomyomatosis and renal cell cancer (HLRCC) typically begin in adulthood at an average age of 25. The skin growths (cutaneous leiomyomata) appear as skin-colored or light brown bumps on the torso and extremities, and occasionally on the face. They usually increase in size and number with age. They may be more sensitive than the surrounding skin and be painful. Uterine leiomyomata (fibroids) also occur in almost all affected women and tend to be large and numerous. Most women with these have irregular or heavy periods and pelvic pain. A renal tumor occurs in about 10% to 16% of affected individuals (at an average age of 44 years) and may cause blood in the urine, lower back pain, and a palpable mass. Some people with renal cell cancer have no symptoms until the cancer is advanced. The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary leiomyomatosis and renal cell cancer. 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 musculature 90% Neoplasm of the skin 90% Pruritus 50% Cataract 7.5% Esophageal neoplasm 7.5% Uterine neoplasm 7.5% Vaginal neoplasm 7.5% Cutaneous leiomyosarcoma 5% Autosomal dominant inheritance - Cutaneous leiomyoma - Decreased fumarate hydratase activity - Incomplete penetrance - Multiple cutaneous leiomyomas - Renal cell carcinoma - Uterine leiomyoma - Uterine leiomyosarcoma - 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 causes hereditary leiomyomatosis and renal cell cancer? Hereditary leiomyomatosis and renal cell cancer (HLRCC) is caused by changes (mutations) in the FH gene. This gene gives the body instructions for making an enzyme called fumarase which is needed for a series of reactions that lets cells use oxygen and energy (the citric acid cycle, or Krebs cycle). People with HLRCC are born with one mutated copy of the FH gene in each cell. The second copy of the gene in some cells can mutate later on from factors in the environment, such as radiation from the sun or an error during cell division. A mutation can interfere with fumarase's role in the citric acid cycle, which may affect the regulation of oxygen levels in cells. Long-term oxygen deficiency in cells with two mutated copies of the FH gene may contribute to tumors growth and the tendency to develop leiomyomas and/or renal cell cancer.
How is hereditary leiomyomatosis and renal cell cancer inherited? Hereditary leiomyomatosis and renal cell cancer (HLRCC) is inherited in an autosomal dominant pattern, which means that having one mutated copy of the gene in each cell is enough to cause symptoms of the condition. In some cases, an affected person inherits the mutated copy of the gene from an affected parent. Other cases result from new mutations in the gene and that occur for the first time in in the affected individual. When an individual with an autosomal dominant condition has children, each child has a 50% (1 in 2) risk to inherit the mutated gene. This is the case regardless of which parent has the condition.
How might hereditary leiomyomatosis and renal cell cancer be treated? Skin growths (cutaneous leiomyomas) associated with hereditary leiomyomatosis and renal cell cancer (HLRCC) should be examined by a dermatologist. Treatment of these may include surgery to remove a painful growth; cryoablation and/or lasers; and/or medications such as calcium channel blockers, alpha blockers, nitroglycerin, antidepressants, and/or antiepileptic drugs (AEDs), which have been reported to reduce pain. Uterine fibroids should be evaluated by a gynecologist. These are typically treated in the same manner as those that occur in the general population. However, most women with HLRCC need medication and/or surgical removal of the fibroids (myomectomy) at a younger age. Medications may include gonadotropin-releasing hormone agonists (GnRHa), antihormonal drugs, and pain relievers. Hysterectomy should be performed only when necessary. Early detection of kidney tumors in HLRCC is important because they grow aggressively. Total nephrectomy may be strongly considered in individuals with a detectable renal mass.