falan42/medcuad_data huggingface dataset:
Topic: Glutaric acidemia type I
Question: What is (are) Glutaric acidemia type I ?
Answer: Glutaric acidemia type I (GA1) is an inherited disorder in which the body can't process certain proteins properly. People with GA1 have inadequate levels of an enzyme needed to break down certain amino acids. These amino acids and their intermediate breakdown products can accumulate, causing damage to the brain (particularly the basal ganglia, which helps control movement). Specific symptoms and severity vary, but features may include macrocephaly; difficulty moving; having jerking, rigidity, or decreased muscle tone; and/or intellectual disability. GA1 is caused by mutations in the GCDH gene and is inherited in an autosomal recessive manner. Treatment includes strict dietary control, which may limit progression of symptoms.
(Source: GARD)
Topic: Glutaric acidemia type I
Question: What are the symptoms of Glutaric acidemia type I ?
Answer: What are the signs and symptoms of Glutaric acidemia type I? The specific symptoms and severity in people with glutaric acidemia type 1 (GA1) can vary widely. Some people are mildly affected, while others have severe problems. Signs and symptoms usually first occur in infancy or early childhood, but sometimes symptoms begin in adolescence or adulthood. Some infants with GA1 have a large head circumference (macrocephaly). Other features that may occur in affected people include difficulty moving; experiencing spasms, jerking, rigidity, or decreased muscle tone; and intellectual disability. Stress on the body (such as infection and fever) can cause worsening of symptoms. The Human Phenotype Ontology provides the following list of signs and symptoms for Glutaric acidemia type I. 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 fontanelles or cranial sutures 90% Encephalitis 90% Nausea and vomiting 90% Abnormal facial shape 50% Abnormal joint morphology 50% Abnormality of extrapyramidal motor function 50% Behavioral abnormality 50% Chorea 50% Feeding difficulties in infancy 50% Frontal bossing 50% Hypertonia 50% Macrocephaly 50% Muscular hypotonia 50% Abnormality of eye movement 7.5% Abnormality of the retinal vasculature 7.5% Cerebral ischemia 7.5% Cognitive impairment 7.5% Developmental regression 7.5% Gait disturbance 7.5% Hemiplegia/hemiparesis 7.5% Intracranial hemorrhage 7.5% Malignant hyperthermia 7.5% Migraine 7.5% Neurological speech impairment 7.5% Reduced consciousness/confusion 7.5% Seizures 7.5% Vertigo 7.5% Autosomal recessive inheritance - Choreoathetosis - Delayed myelination - Dilation of lateral ventricles - Dystonia - Failure to thrive - Glutaric acidemia - Glutaric aciduria - Hepatomegaly - Hypoglycemia - Infantile encephalopathy - Ketonuria - Ketosis - Metabolic acidosis - Opisthotonus - Rigidity - Spastic diplegia - Symmetrical progressive peripheral demyelination - 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: Glutaric acidemia type I
Question: Is Glutaric acidemia type I inherited ?
Answer: How is glutaric acidemia type I inherited? Glutaric acidemia type I is inherited in an autosomal recessive manner. This means that both copies of the responsible gene in each cell must have mutations for a person to be affected. The parents of a person with an autosomal recessive condition typically each carry one mutated copy of the gene and are referred to as carriers. Carriers of an autosomal recessive condition typically are unaffected and have no signs or symptoms. When two carrier parents have children, each child has a 25% (1 in 4) chance to be affected, a 50% (1 in 2) chance to be an unaffected carrier like each parent, and a 25% chance to be unaffected and not be a carrier.
(Source: GARD)
Topic: Glutaric acidemia type I
Question: How to diagnose Glutaric acidemia type I ?
Answer: Is genetic testing available for glutaric acidemia type I? Yes. The Genetic Testing Registry (GTR) provides information about the labs that offer genetic testing for this condition. The intended audience for the GTR is health care providers and researchers. Therefore, patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
(Source: GARD)
Topic: Pyoderma gangrenosum
Question: What is (are) Pyoderma gangrenosum ?
Answer: Pyoderma gangrenosum is a rare, destructive inflammatory skin disease of which a painful nodule or pustule breaks down to form a progressively enlarging ulcer. Lesions may occur either in the absence of any apparent underlying disorder or in association with other diseases, such as ulcerative colitis, Crohn's disease, polyarthritis (an inflammation of several joints together), gammopathy, and other conditions . Pyoderma gangrenosum belongs to a group of skin diseases in which a common cellular denominator is the neutrophil. Neutrophils are a type of white blood cell or leukocyte which form an early line of defense against bacterial infections.  Each year in the United States, pyoderma gangrenosum occurs in about 1 person per 100.000 people.
(Source: GARD)
Topic: Pyoderma gangrenosum
Question: What are the symptoms of Pyoderma gangrenosum ?
Answer: What are the signs and symptoms of Pyoderma gangrenosum? The Human Phenotype Ontology provides the following list of signs and symptoms for Pyoderma gangrenosum. 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) Myositis 90% Pulmonary infiltrates 90% Skin rash 90% Skin ulcer 90% Abnormal blistering of the skin 50% 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: Pyoderma gangrenosum
Question: What are the treatments for Pyoderma gangrenosum ?
Answer: How might pyoderma gangrenosum be treated? Although antibiotics are often prescribed prior to having a correct diagnosis (and may be continued if there is a secondary infection or surrounding cellulitis), antibiotics are generally not helpful for treating uncomplicated cases of pyoderma gangrenosum (PG). The best documented treatments for PG are systemic corticosteroids and cyclosporin A. Smaller ulcers may be treated with strong topical steroid creams, steroid injections, special dressings, oral anti-inflammatory antibiotics, and/or other therapies. More severe PG typically requires immunosuppressive therapy (used to decrease the body's immune responses). Combinations of steroids with cytotoxic drugs may be used in resistant cases. There has reportedly been rapid improvement of PG with use of anti-tumor necrosis alpha therapy (such as infliximab), which is also used to treat Crohn's disease and other conditions. Skin transplants and/or the application of bioengineered skin is useful in selected cases as a complementary therapy to immunosuppressive treatment. The use of modern wound dressings is helpful to minimize pain and the risk of secondary infections. Treatment for PG generally does not involve surgery because it can result in enlargement of the ulcer; however, necrotic tissue (dying or dead tissue) should be gently removed. More detailed information about the treatment of pyoderma gangrenosum is available on eMedicine's Web site and can be viewed by clicking here.
(Source: GARD)
Topic: Hard skin syndrome Parana type
Question: What are the symptoms of Hard skin syndrome Parana type ?
Answer: What are the signs and symptoms of Hard skin syndrome Parana type? The Human Phenotype Ontology provides the following list of signs and symptoms for Hard skin syndrome Parana 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) Generalized hyperpigmentation 90% Limitation of joint mobility 90% Respiratory insufficiency 50% Tapered finger 50% Abnormality of the nipple 7.5% Hyperkeratosis 7.5% Hypertrichosis 7.5% Pectus carinatum 7.5% Round face 7.5% Short stature 7.5% Abnormality of the abdomen - Abnormality of the skin - Autosomal recessive inheritance - Restricted chest movement - Severe postnatal growth retardation - 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: Transaldolase deficiency
Question: What are the symptoms of Transaldolase deficiency ?
Answer: What are the signs and symptoms of Transaldolase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Transaldolase deficiency. 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) Anemia - Asthma - Autosomal recessive inheritance - Cirrhosis - Clitoromegaly - Coarctation of aorta - Decreased liver function - Deep philtrum - Depressed nasal bridge - Failure to thrive - Hepatic fibrosis - Hepatomegaly - Hepatosplenomegaly - Low-set ears - Micronodular cirrhosis - Oligohydramnios - Pancytopenia - Patent ductus arteriosus - Patent foramen ovale - Poor suck - Short philtrum - Small for gestational age - Splenomegaly - Synophrys - Telangiectasia - Thin vermilion border - Thrombocytopenia - Triangular face - Ventricular septal defect - Wide anterior fontanel - Wide mouth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
(Source: GARD)
Topic: Benign rolandic epilepsy (BRE)
Question: What is (are) Benign rolandic epilepsy (BRE) ?
Answer: Benign rolandic epilepsy is the most common form of childhood epilepsy.  It is referred to as "benign" because most children outgrow the condition by puberty, usually by 14 years of age.  This form of epilepsy is characterized by seizures involving the part of the frontal lobe of the brain called the rolandic area. The seizures associated with this condition typically occur during the nighttime.  Treatment is usually not prescribed, since the condition tends to disappear by puberty.
(Source: GARD)
Topic: Benign rolandic epilepsy (BRE)
Question: What are the symptoms of Benign rolandic epilepsy (BRE) ?
Answer: What are the signs and symptoms of Benign rolandic epilepsy (BRE)? Patients with this syndrome typically present between the ages of 3 and 13 years with nighttime seizures. The episodes usually begin with twitching and stiffness of the face, and often wake up the child.  The clonic activity causes a tingling feeling on one side of the mouth involving the tongue, lips, gum and inner side of the cheek.  The seizure may also involve the throat which may make speech unclear and difficult to understand.   Occasionally, both sides of the body may be affected, which can lead to loss of consciousness causing stiffness and jerking movements of the arms and legs.  The child may also be incontinent.  After an episode, a child may be sleepy and doze for a few hours. The Human Phenotype Ontology provides the following list of signs and symptoms for Benign rolandic epilepsy (BRE). 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) Bilateral convulsive seizures - EEG with centrotemporal focal spike waves - Sporadic - 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: Benign rolandic epilepsy (BRE)
Question: What causes Benign rolandic epilepsy (BRE) ?
Answer: What causes benign rolandic epilepsy? Benign rolandic epilepsy is a genetic syndrome with an autosomal dominant mode of inheritance.  Although the gene associated with the condition has not been identified, Neubauer et al. (1998) found evidence of linkage to chromosome 15q. Juvenile myoclonic epilepsy has been mapped to the same region.
(Source: GARD)
Topic: Benign rolandic epilepsy (BRE)
Question: What are the treatments for Benign rolandic epilepsy (BRE) ?
Answer: What treatment is available for benign rolandic epilepsy? Although treatment is usually not necessary since the episodes are infrequent and are typically outgrown by puberty, anticonvulsants such as carbamazepine.
(Source: GARD)
Topic: Situs inversus
Question: What is (are) Situs inversus ?
Answer: Situs inversus is a condition in which the arrangement of the internal organs is a mirror image of normal anatomy. It can occur alone (isolated, with no other abnormalities or conditions) or it can occur as part of a syndrome with various other defects. Congenital heart defects are present in about 5-10% of affected people. The underlying cause and genetics of situs inversus are complex. Familial cases have been reported.
(Source: GARD)
Topic: Situs inversus
Question: What are the symptoms of Situs inversus ?
Answer: What are the signs and symptoms of situs inversus? In isolated situs inversus (occurring alone with no other abnormalities), there is a complete mirror image transposition of the thoracic (chest) and abdominal organs, and anterior-posterior (front-back) symmetry is normal. Many affected people have no associated health issues when the condition is isolated. When situs inversus occurs in association with other conditions such as Kartagener syndrome or primary ciliary dyskinesia, additional signs and symptoms relating to these conditions will be present.
(Source: GARD)
Topic: Situs inversus
Question: Is Situs inversus inherited ?
Answer: Is situs inversus inherited? The genetics of situs inversus is complex. Several familial cases have been reported in which the inheritance has been described as either autosomal recessive (most commonly), autosomal dominant, or X-linked. The condition appears to be genetically heterogeneous, meaning that different genetic factors or genes may cause the condition among different people or families. If situs inversus is associated with another underlying syndrome or condition, the inheritance pattern may be the same as that of the underlying condition. People with questions about genetic risks to themselves or family members are encouraged to speak with a genetics professional.
(Source: GARD)
Topic: Situs inversus
Question: How to diagnose Situs inversus ?
Answer: How is situs inversus diagnosed? A thorough physical examination, followed by radiographic imaging of the chest and abdomen and electrocardiography, identify most cases of situs inversus. The main diagnostic challenge in affected people is the non-traditional presence of referred pain (pain felt in a different location than its source).
(Source: GARD)
Topic: Situs inversus
Question: What are the treatments for Situs inversus ?
Answer: How might situs inversus be treated? In isolated situs inversus, no treatment may be necessary. When situs inversus is associated with another condition, treatment may depend on the associated condition and the signs and symptoms present in the affected person. Knowing that a person has situs inversus is important for diagnosing medical problems and preventing surgical mishaps that can result from the failure to recognize reversed anatomy. For example, in a person with situs inversus, appendicitis causes pain in the left lower abdomen instead of the right lower abdomen. Wearing medical identification can help ensure proper treatment in an emergency medical situation.
(Source: GARD)
Topic: Amyloidosis corneal
Question: What are the symptoms of Amyloidosis corneal ?
Answer: What are the signs and symptoms of Amyloidosis corneal? The Human Phenotype Ontology provides the following list of signs and symptoms for Amyloidosis corneal. 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 - Blurred vision - Childhood onset - Corneal dystrophy - Photophobia - Reduced visual acuity - Visual impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
(Source: GARD)
Topic: Amyloidosis corneal
Question: How to diagnose Amyloidosis corneal ?
Answer: Is genetic testing available for lattice corneal dystrophy? Yes. GeneTests lists the names of laboratories that are performing genetic testing for lattice corneal dystrophy. 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. To view the contact information for the clinical laboratories, conducting testing for lattice dystrophy type 1 and 3a click here. To access the contact information for the research laboratories performing genetic testing for lattice dystrophy type 3 click here.
(Source: GARD)
Topic: Pyle disease
Question: What is (are) Pyle disease ?
Answer: Pyle disease is a bone disorder characterized by genu valgum (knock knees), Erlenmeyer flask deformity (where there is relative constriction of the diaphysis or shaft of the bone and flaring of the metaphysis or end of the bone), widening of the ribs and clavicles (collarbones), platyspondyly (flattening of the bones of the spine) and cortical thinning. Only about 30 cases have been reported in the literature. Cranial involvement is minimal with some showing mild hyperostosis (excessive new bone formation ) of the skull base and thickening of the frontal and occipital bones. Pyle disease is passed through families in an autosomal recessive manner.
(Source: GARD)