falan42/medcuad_data huggingface dataset:
Topic: Hypokalemic periodic paralysis
Question: What are the symptoms of Hypokalemic periodic paralysis ?
Answer: 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.
(Source: GARD)
Topic: Hypokalemic periodic paralysis
Question: What causes Hypokalemic periodic paralysis ?
Answer: 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.
(Source: GARD)
Topic: Hypokalemic periodic paralysis
Question: Is Hypokalemic periodic paralysis inherited ?
Answer: 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.
(Source: GARD)
Topic: Hypokalemic periodic paralysis
Question: How to diagnose Hypokalemic periodic paralysis ?
Answer: 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.
(Source: GARD)
Topic: Mitochondrial Membrane Protein-Associated Neurodegeneration
Question: What are the symptoms of Mitochondrial Membrane Protein-Associated Neurodegeneration ?
Answer: What are the signs and symptoms of Mitochondrial Membrane Protein-Associated Neurodegeneration ? The Human Phenotype Ontology provides the following list of signs and symptoms for Mitochondrial Membrane Protein-Associated Neurodegeneration . If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal lower motor neuron morphology - Ataxia - Autosomal recessive inheritance - Babinski sign - Delayed speech and language development - Dementia - Distal amyotrophy - Distal muscle weakness - Dysarthria - Elevated serum creatine phosphokinase - Emotional lability - Gait disturbance - Hyperreflexia - Hyporeflexia - Impulsivity - Lewy bodies - Neurodegeneration - Optic atrophy - Oromandibular dystonia - Parkinsonism - Pes cavus - Phenotypic variability - Progressive - Progressive visual loss - Scapular winging - Spasticity - Tremor - 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: Limb-girdle muscular dystrophy type 2E
Question: What are the symptoms of Limb-girdle muscular dystrophy type 2E ?
Answer: 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.
(Source: GARD)
Topic: Spastic paraplegia 51
Question: What are the symptoms of Spastic paraplegia 51 ?
Answer: What are the signs and symptoms of Spastic paraplegia 51? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia 51. 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 - Babinski sign - Bulbous nose - Cerebellar atrophy - Cerebral cortical atrophy - Coarse facial features - Congenital onset - Decreased muscle mass - Drooling - Facial hypotonia - Flexion contracture - Hyperreflexia - Intellectual disability, severe - Long nose - Microcephaly - Narrow face - Narrow forehead - Neonatal hypotonia - Nystagmus - Pointed chin - Prominent antihelix - Seizures - Short philtrum - Short stature - Spastic paraplegia - Spastic tetraplegia - Talipes equinovarus - Ventriculomegaly - Wide mouth - Wide nasal bridge - 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: Herpes zoster oticus
Question: What is (are) Herpes zoster oticus ?
Answer: Herpes zoster oticus is a common complication of shingles, an infection caused by the varicella-zoster virus (which is the virus that also causes chickenpox). Shingles occurs in people who have had chickenpox and the varicella-zoster virus becomes active again. Herpes zoster oticus is caused by the spread of the virus to facial nerves and can cause intense ear pain; a rash around the ear, mouth, face, neck, and scalp; and paralysis of the face. Other symptoms may include hearing loss, vertigo (feeling that the room is spinning), tinnitus (hearing abnormal sounds), loss of taste in the tongue, and dry mouth and eyes. Some cases of herpes zoster oticus do not require treatment, but when treatment is needed, pain medications, antiviral drugs or corticosteroids may be prescribed. Vertigo is sometimes treated with medication as well. The prognosis of herpes zoster oticus is typically good but in some cases, hearing loss or facial paralysis may be permanent.
(Source: GARD)
Topic: Herpes zoster oticus
Question: What are the treatments for Herpes zoster oticus ?
Answer: How might herpes zoster oticus be treated? Treatment for herpes zoster oticus typically includes anti-inflammatory drugs called steroids, which may reduce the inflammation of the nerves and help to ease the pain. Antiviral medications are usually prescribed, although whether antiviral medications are beneficial for treating this condition has not been confirmed. Strong pain medications may be prescribed if the pain continues. An eye patch may be recommended to prevent injury to the cornea (corneal abrasion) and damage to the eye if it does not close completely. Vertigo (feeling that the room is spinning) and dizziness may be treated with other medications.
(Source: GARD)
Topic: Benign familial neonatal-infantile seizures
Question: What are the symptoms of Benign familial neonatal-infantile seizures ?
Answer: What are the signs and symptoms of Benign familial neonatal-infantile seizures? The Human Phenotype Ontology provides the following list of signs and symptoms for Benign familial neonatal-infantile seizures. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Bilateral convulsive seizures - Cyanosis - Dialeptic seizures - Focal seizures - Focal seizures, afebril - Normal interictal EEG - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
(Source: GARD)
Topic: Lipoid proteinosis of Urbach and Wiethe
Question: What is (are) Lipoid proteinosis of Urbach and Wiethe ?
Answer: Lipoid proteinosis (LP) of Urbach and Wiethe is a rare condition that affects the skin and the brain. The signs and symptoms of this condition and the disease severity vary from person to person. The first sign of LP is usually a hoarse cry during infancy. Affected children then develop characteristic growths on the skin and mucus membranes in the first two years of life. Damage to the temporal lobes (the portions of the brain that process emotions and are important for short-term memory) occurs over time and can lead to seizures and intellectual disability. Other signs and symptoms may include hair loss, oligodontia, speech problems, frequent upper respiratory infections, difficulty swallowing, dystonia, and learning disabilities. LP is caused by changes (mutations) in the ECM1 gene and is inherited in an autosomal recessive manner. There is currently no cure for LP and treatment is based on the signs and symptoms present in each person.
(Source: GARD)
Topic: Lipoid proteinosis of Urbach and Wiethe
Question: What are the symptoms of Lipoid proteinosis of Urbach and Wiethe ?
Answer: What are the signs and symptoms of Lipoid proteinosis of Urbach and Wiethe? The Human Phenotype Ontology provides the following list of signs and symptoms for Lipoid proteinosis of Urbach and Wiethe. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal blistering of the skin 90% Abnormality of the eye 90% Abnormality of the voice 90% Acne 90% Atypical scarring of skin 90% Pustule 90% Thick lower lip vermilion 90% Abnormal hair quantity 50% Aplasia/Hypoplasia of the tongue 50% Feeding difficulties in infancy 50% Hyperkeratosis 50% Recurrent respiratory infections 50% Verrucae 50% Cerebral calcification 7.5% Nasal polyposis 7.5% Seizures 7.5% Abnormality of the skin - Aggressive behavior - Autosomal recessive inheritance - Bilateral intracranial calcifications - Hallucinations - Hoarse voice - Memory impairment - Paranoia - Patchy alopecia - 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: Lipoid proteinosis of Urbach and Wiethe
Question: What are the treatments for Lipoid proteinosis of Urbach and Wiethe ?
Answer: How might lipoid proteinosis of Urbach and Wiethe be treated? There is currently no cure for lipoid proteinosis (LP) of Urbach and Wiethe. Treatment is based on the signs and symptoms present in each person. The skin abnormalities found in people affected by LP may be treated with certain medications, including corticosteriods, dimethyl sulfoxide; or d-penicillamine. An additional medication called acitretin can be used to treat hoarseness and some skin problems. Anticonvulsant medications are often prescribed for people with seizures. The success of these medications in treating the signs and symptoms of LP varies. Affected people with growths on their vocal cords or eyelids may be treated with carbon dioxide laser surgery. Dermabrasion (removal of the top layer of skin) may also improve the appearance of skin abnormalities.
(Source: GARD)
Topic: Achondroplasia and Swiss type agammaglobulinemia
Question: What are the symptoms of Achondroplasia and Swiss type agammaglobulinemia ?
Answer: What are the signs and symptoms of Achondroplasia and Swiss type agammaglobulinemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Achondroplasia and Swiss type agammaglobulinemia. 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) Cellular immunodeficiency 90% Lymphopenia 90% Recurrent respiratory infections 90% Fine hair 50% Reduced bone mineral density 50% Short stature 50% Abnormality of the fibula 7.5% Abnormality of the pancreas 7.5% Aganglionic megacolon 7.5% Anemia 7.5% Cognitive impairment 7.5% Hernia of the abdominal wall 7.5% Hypopigmentation of hair 7.5% Malabsorption 7.5% Pectus excavatum 7.5% Abnormality of the thorax - Agammaglobulinemia - Autosomal recessive inheritance - Death in childhood - Hypoplasia of the thymus - Metaphyseal chondrodysplasia - Severe combined immunodeficiency - 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: Sialadenitis
Question: What is (are) Sialadenitis ?
Answer: Sialadenitis is an infection of the salivary glands. It is usually caused by a virus or bacteria. The parotid (in front of the ear) and submandibular (under the chin) glands are most commonly affected. Sialadenitis may be associated with pain, tenderness, redness, and gradual, localized swelling of the affected area. There are both acute and chronic forms. Although it is quite common among elderly adults with salivary gland stones, sialadenitis can also occur in other age groups, including infants during the first few weeks of life. Without proper treatment, sialadenitis can develop into a severe infection, especially in people who are debilitated or elderly.
(Source: GARD)
Topic: Sialadenitis
Question: What are the symptoms of Sialadenitis ?
Answer: What are the signs and symptoms of sialadenitis? Signs and symptoms of sialadenitis may include fever, chills, and unilateral pain and swelling in the affected area. The affected gland may be firm and tender, with redness of the overlying skin. Pus may drain through the gland into the mouth.
(Source: GARD)
Topic: Sialadenitis
Question: What causes Sialadenitis ?
Answer: What causes sialadenitis? Sialadenitis usually occurs after hyposecretion (reduced flow from the salivary glands) or duct obstruction, but may develop without an obvious cause. Saliva flow can be reduced in people who are sick or recovering from surgery, or people who are dehydrated, malnourished, or immunosuppressed. A stone or a kink in the salivary duct can also diminish saliva flow, as can certain medications (such as antihistamines, diuretics, psychiatric medications, beta-blockers, or barbiturates). It often occurs in chronically ill people with xerostomia (dry mouth), people with Sjogren syndrome, and in those who have had radiation therapy to the oral cavity. The most common causative organism in the infection is Staphylococcus aureus; others include streptococci, coliforms, and various anaerobic bacteria. Although less common than bacteria, several viruses have also been implicated in sialadenitis. These include the mumps virus, HIV, coxsackievirus, parainfluenza types I and II, influenza A, and herpes.
(Source: GARD)