Druvith/transformed_medDataset huggingface dataset:
What are the symptoms of Duchenne muscular dystrophy ? 
 What are the signs and symptoms of Duchenne muscular dystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Duchenne muscular dystrophy. 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) Arrhythmia - Calf muscle pseudohypertrophy - Childhood onset - Congestive heart failure - Dilated cardiomyopathy - Elevated serum creatine phosphokinase - Flexion contracture - Gowers sign - Hyperlordosis - Hyporeflexia - Hypoventilation - Intellectual disability, mild - Muscular dystrophy - Muscular hypotonia - Respiratory failure - Scoliosis - Waddling gait - X-linked recessive inheritance - 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.
Is Duchenne muscular dystrophy inherited ? 
 How do people inherit Duchenne and Becker muscular dystrophy? Duchenne and Becker muscular dystrophy are inherited in an X-linked recessive pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation must be present in both copies of the gene to cause the disorder. Males are affected by X-linked recessive disorders much more frequently than females. A striking characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. In about two thirds of cases, an affected male inherits the mutation from a mother who carries an altered copy of the DMD gene. The other one third of cases probably result from new mutations in the gene. In X-linked recessive inheritance, a female with one mutated copy of the gene in each cell is called a carrier. She can pass on the altered gene, but usually does not experience signs and symptoms of the disorder. Occasionally, however, females who carry a DMD mutation may have muscle weakness and cramping. These symptoms are typically milder than the severe muscle weakness and atrophy seen in affected males. Females who carry a DMD mutation also have an increased risk of developing heart abnormalities including dilated cardiomyopathy.
How to diagnose Duchenne muscular dystrophy ? 
 How is Duchenne muscular dystrophy (DMD) diagnosed? Duchenne muscular dystrophy (DMD) is suspected and diagnosed when the following clinical findings are found: a positive family history of DMD, more men affected that women in a family, progressive muscle weakness which is usually greater in the proximal muscles (closest to the trunk of the body) than distal muscles (those farthest away from the hips and shoulders such as those in the hands, feet, lower arms or lower legs), symptoms before the age of 5 years old and wheel chair dependency before age 13. Testing for DMD includes: a blood test which measures the levels of serum creatine phosphokinase (CPK); electromyography which is used to distinguish conditions that only impact the muscles (myotonic) from those that involve that brain and muscles (neurogenic); a skeletal muscle biopsy which is used to detect the presence of specific proteins with a visible label (immunohistochemistry) and molecular genetic testing for deletions, duplications, rearrangements, etc. of genetic material.
What are the treatments for Duchenne muscular dystrophy ? 
 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.
What is (are) Hypokalemic periodic paralysis ? 
 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 symptoms of Hypokalemic periodic paralysis ? 
 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 ? 
 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.
Is Hypokalemic periodic paralysis inherited ? 
 How is hypokalemic periodic paralysis inherited? This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition.
How to diagnose Hypokalemic periodic paralysis ? 
 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.
What is (are) Brittle cornea syndrome ? 
 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 symptoms of Brittle cornea syndrome ? 
 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.
What is (are) Syndromic microphthalmia, type 3 ? 
 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 symptoms of Syndromic microphthalmia, type 3 ? 
 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 symptoms of Limb-girdle muscular dystrophy type 2E ? 
 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 symptoms of Irons Bhan syndrome ? 
 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.
What is (are) Hereditary leiomyomatosis and renal cell cancer ? 
 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.