sarnsrun/medquad huggingface dataset:
Topic: Essential tremor
Question: Is Essential tremor inherited ?
Answer: Is essential tremor inherited? About half of all cases of essential tremor appear to occur because of a genetic mutation. This is referred to as familial tremor. In these cases, essential tremor appears to be passed through generations in families, but the inheritance pattern varies. In many affected families, the condition appears to be inherited in an autosomal dominant manner, which means one copy of an altered gene in each cell is sufficient to cause the disorder. In other families, the inheritance pattern is unclear. Essential tremor may also appear in people with no history of the disorder in their family. In some families, there are individuals who have essential tremor while others have other movement disorders, such as involuntary muscle tensing (dystonia). The potential genetic connection between essential tremor and other movement disorders is an active area of research..
Source: GARD
Topic: Essential tremor
Question: What are the treatments for Essential tremor ?
Answer: How might essential tremor be treated? Treatment for essential tremor may not be necessary unless the tremors interfere with daily activities or cause embarrassment. Although there is no definitive cure for essential tremor, medicines may help relieve symptoms. How well medicines work depend on the individual patient. Two medications used to treat tremors include: Propranolol, a drug that blocks the action of stimulating substances called neurotransmitters, particularly those related to adrenaline Primidone, an antiseizure drug that also control the function of some neurotransmitters These drugs can have significant side effects. Eliminating tremor "triggers" such as caffeine and other stimulants from the diet is often recommended. Physical therapy may help to reduce tremor and improve coordination and muscle control for some patients.   More details about the management of essential tremor can be accessed through the following web links: http://www.mayoclinic.com/print/essential-tremor/DS00367/METHOD=print&DSECTION=all  http://emedicine.medscape.com/article/1150290-treatment
Source: GARD
Topic: Popliteal pterygium syndrome
Question: What is (are) Popliteal pterygium syndrome ?
Answer: Popliteal pterygium syndrome is a condition that affects the development of the face, skin, and genitals. Most people with this disorder are born with a cleft lip and/or a cleft palate. Affected individuals may have depressions (pits) near the center of the lower lip and small mounds of tissue on the lower lip. In some cases, people with popliteal pterygium syndrome have missing teeth. Other features may include webs of skin on the backs of the legs across the knee joint, webbing or fusion of the fingers or toes (syndactyly), characteristic triangular folds of skin over the nails of the large toes, and tissue connecting the upper and lower eyelids or the upper and lower jaw. Affected individuals may also have abnormal genitals. This condition is inherited in an autosomal dominant fashion and is caused by mutations in the IRF6 gene.
Source: GARD
Topic: Popliteal pterygium syndrome
Question: What are the symptoms of Popliteal pterygium syndrome ?
Answer: What are the signs and symptoms of Popliteal pterygium syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Popliteal pterygium 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) Cleft palate 90% Hypertrichosis 90% Limitation of joint mobility 90% Thin vermilion border 90% Toe syndactyly 90% Abnormality of female external genitalia 50% Abnormality of the palpebral fissures 50% Abnormality of the ribs 50% Abnormality of the toenails 50% Bifid scrotum 50% Cryptorchidism 50% Finger syndactyly 50% Lip pit 50% Non-midline cleft lip 50% Popliteal pterygium 50% Scoliosis 50% Scrotal hypoplasia 50% Talipes 50% Choanal atresia 7.5% Cognitive impairment 7.5% Split hand 7.5% Ankyloblepharon - Autosomal dominant inheritance - Cleft upper lip - Cutaneous finger syndactyly - Dementia - Fibrous syngnathia - Hypoplasia of the uterus - Hypoplasia of the vagina - Hypoplastic labia majora - Intercrural pterygium - Lower lip pit - Pyramidal skinfold extending from the base to the top of the nails - Spina bifida occulta - Talipes equinovarus - 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
Question: What is (are) Limb-girdle muscular dystrophy ?
Answer: Limb-girdle muscular dystrophy is a group of disorders which affect the voluntary muscles around the hips and shoulders. The conditions are progressive, leading to a loss of muscle strength and bulk over a number of years. Onset may occur in childhood, adolescence, young adulthood, or even later. Males and females are affected in equal numbers. Most forms of limb girdle muscular dystrophy are inherited in an autosomal recessive manner. Several rare forms are inherited in an autosomal dominant pattern. While there are no treatments which directly reverse the muscle weakness associated with this condition, supportive treatment can decrease the complications. There are at least 20 different types of limb-girdle muscular dystrophy.
Source: GARD
Topic: Limb-girdle muscular dystrophy
Question: Is Limb-girdle muscular dystrophy inherited ?
Answer: How is limb-girdle muscular dystrophy inherited? Limb-girdle muscular dystrophy (LGMD) is most often inherited in an autosomal recessive manner; less commonly, rare sub-types may be inherited in an autosomal dominant manner.  There may be difficulties diagnosing the condition accurately, and often the mode of inheritance cannot be determined. Therefore, it may be challenging to determine the exact recurrence risks for some families. Establishing the type of LGMD in an affected individual can be useful for discussing the clinical course of the disease as well as for determining who else in the family may be at risk for the condition.
Source: GARD
Topic: Limb-girdle muscular dystrophy
Question: What are the treatments for Limb-girdle muscular dystrophy ?
Answer: How might limb-girdle muscular dystrophy be treated? Unfortunately, no definitive treatments or effective medications for the limb-girdle muscular dystrophies (LGMDs) currently exist. Management depends on each individual and the specific type of LGMD that the individual has. However, a general approach to managing LGMD has been proposed, based on the typical progression and complications of affected individuals. This approach may include: weight control to avoid obesity; physical therapy and stretching exercises to promote mobility and prevent contractures (fixed tightening of the muscles); use of mechanical aids such as canes, walkers, orthotics, and wheelchairs as needed to help ambulation and mobility; monitoring and surgical intervention as needed for orthopedic complications such as foot deformity and scoliosis; monitoring respiratory function and use of respiratory aids when needed; monitoring for evidence of cardiomyopathy in the types of LGMD with known occurrence of cardiac involvement; and social and emotional support and stimulation to maximize a sense of social involvement and productivity, and to reduce the sense of social isolation common in these disorders.
Source: GARD
Topic: Intellectual disability-developmental delay-contractures syndrome
Question: What is (are) Intellectual disability-developmental delay-contractures syndrome ?
Answer: Intellectual disability-developmental delay-contractures syndrome is a rare, slowly progressive genetic disorder that is present at birth. It is characterized by contractures of the joints of the feet (arthrogryposis multiplex congenita), muscle degeneration (atrophy), mild intellectual disability and an impaired ability to move certain muscles of the eyes, face and tongue. Other symptoms might include spasticity and seizures. Intellectual disability-developmental delay-contractures syndrome is caused by mutations in the ZC4H2 gene and is inherited in an X-linked recessive fashion. Most people with intellectual disability-developmental delay-contractures syndrome are male; however carrier females have been reported to have mild symptoms. There is no known cure for intellectual disability-developmental delay-contractures syndrome. Treatment is symptomatic and supportive.
Source: GARD
Topic: Intellectual disability-developmental delay-contractures syndrome
Question: What are the symptoms of Intellectual disability-developmental delay-contractures syndrome ?
Answer: What are the signs and symptoms of Intellectual disability-developmental delay-contractures syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Intellectual disability-developmental delay-contractures 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 movement 90% Clinodactyly of the 5th finger 90% Cognitive impairment 90% Limitation of joint mobility 90% Neurological speech impairment 90% Ophthalmoparesis 90% Skeletal muscle atrophy 90% Kyphosis 7.5% Ptosis 7.5% Scoliosis 7.5% Strabismus 7.5% Oculomotor apraxia 5% Apnea - Apraxia - Areflexia - Broad alveolar ridges - Camptodactyly - Cerebral atrophy - Congenital foot contractures - Congenital onset - Decreased fetal movement - Delayed myelination - Delayed speech and language development - Distal amyotrophy - Drooling - Dystonia - Facial palsy - Feeding difficulties - High anterior hairline - High palate - Hip dislocation - Hyperlordosis - Intellectual disability, mild - Long philtrum - Low-set ears - Muscular hypotonia - Narrow chest - Neonatal respiratory distress - Proximal placement of thumb - Retrognathia - Seizures - Short neck - Short stature - Smooth philtrum - Spasticity - Talipes equinovarus - Upslanted palpebral fissure - U-Shaped upper lip vermilion - 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.
Source: GARD
Topic: Intellectual disability-developmental delay-contractures syndrome
Question: Is Intellectual disability-developmental delay-contractures syndrome inherited ?
Answer: How is intellectual disability-developmental delay-contractures syndrome inherited? Intellectual disability-developmental delay-contractures syndrome syndrome is inherited in an X-linked recessive manner and is caused by mutations in the ZC4H2 gene. A condition is considered X-linked if the gene with the mutation 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. As such, males are affected by X-linked recessive disorders much more frequently than females. 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. Rarely, female carriers of a ZC4H2 gene mutation have been reported to exhibit mild symptoms.
Source: GARD
Topic: Carbamoyl phosphate synthetase 1 deficiency
Question: What is (are) Carbamoyl phosphate synthetase 1 deficiency ?
Answer: Carbamoyl phosphate synthetase I deficiency is type of urea cycle disorder. It causes toxic levels of ammonia to accumulate in the blood. Signs and symptoms in newborns may include a lack of energy, unwillingness to eat, seizures, unusual body movements, and poorly controlled breathing or body temperature. Complications may include coma, developmental delay, and learning disability. Some individuals have a less severe form of the deficiency, and have milder symptoms that may not appear until later in life. Carbamoyl phosphate synthetase I deficiency is caused by mutations in the CPS1 gene and is inherited in an autosomal recessive fashion.
Source: GARD
Topic: Carbamoyl phosphate synthetase 1 deficiency
Question: What are the symptoms of Carbamoyl phosphate synthetase 1 deficiency ?
Answer: What are the signs and symptoms of Carbamoyl phosphate synthetase 1 deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Carbamoyl phosphate synthetase 1 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) Aminoaciduria 90% Hyperammonemia 90% Muscular hypotonia 90% Respiratory insufficiency 90% Seizures 90% Stroke 5% Ataxia - Autosomal recessive inheritance - Cerebral edema - Coma - Episodic ammonia intoxication - Failure to thrive - Hypoargininemia - Intellectual disability - Irritability - Lethargy - Low plasma citrulline - Protein avoidance - Respiratory alkalosis - Vomiting - 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: Hereditary diffuse leukoencephalopathy with spheroids
Question: What is (are) Hereditary diffuse leukoencephalopathy with spheroids ?
Answer: Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is a neurological condition characterized by changes to certain areas of the brain. A hallmark of HDLS is leukoencephalopathy, which is damage to a type of brain tissue called white matter. Another common finding is axon damage due to swellings called spheroids. Damage to myelin and axons is thought to contribute to many of the neurological signs and symptoms seen in people with this condition, including the personality changes, loss of memory, changes in motor skills and dementia. HDLS is caused by mutations in the CSF1R gene. It is inherited in an autosomal dominant pattern.
Source: GARD
Topic: Hereditary diffuse leukoencephalopathy with spheroids
Question: What causes Hereditary diffuse leukoencephalopathy with spheroids ?
Answer: What causes hereditary diffuse leukoencephalopathy with spheroids (HDLS)? HDLS is caused by mutations in the CSF1R gene. This gene provides instructions for making a protein called colony stimulating factor 1 receptor (CSF-1 receptor), which is found in the outer membrane of certain types of cells. The CSF-1 receptor triggers signaling pathways that control many important cellular processes, such as cell growth and division (proliferation) and maturation of the cell to take on defined functions (differentiation). Mutations in the CSF1R gene lead to a altered CSF-1 receptor protein which is unable to stimulate cell signaling pathways. Exactly how these gene mutations cause the signs and symptoms of HDLS is unknown.
Source: GARD
Topic: Hereditary diffuse leukoencephalopathy with spheroids
Question: Is Hereditary diffuse leukoencephalopathy with spheroids inherited ?
Answer: How is hereditary diffuse leukoencephalopathy with spheroids (HDLS) inherited? HDLS 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 inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.
Source: GARD
Topic: Pituitary hormone deficiency, combined 3
Question: What are the symptoms of Pituitary hormone deficiency, combined 3 ?
Answer: What are the signs and symptoms of Pituitary hormone deficiency, combined 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Pituitary hormone deficiency, combined 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) Abnormality of the genital system 90% Sensorineural hearing impairment 90% Anterior pituitary hypoplasia - Autosomal recessive inheritance - Gonadotropin deficiency - Growth hormone deficiency - Intellectual disability - Pituitary dwarfism - Short neck - Short stature - 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: Pituitary hormone deficiency, combined 4
Question: What are the symptoms of Pituitary hormone deficiency, combined 4 ?
Answer: What are the signs and symptoms of Pituitary hormone deficiency, combined 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Pituitary hormone deficiency, combined 4. 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) Small sella turcica 5% Adrenal insufficiency - Autosomal dominant inheritance - Autosomal recessive inheritance - Hypoglycemia - Hypothyroidism - Marked delay in bone age - Pituitary dwarfism - 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: Spastic paraplegia 2
Question: What are the symptoms of Spastic paraplegia 2 ?
Answer: What are the signs and symptoms of Spastic paraplegia 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Gait disturbance 90% Hyperreflexia 90% Muscle weakness 90% Abnormal renal physiology 50% Abnormality of extrapyramidal motor function 50% Bowel incontinence 50% Cognitive impairment 50% Optic atrophy 50% Incoordination 7.5% Limitation of joint mobility 7.5% Neurological speech impairment 7.5% Nystagmus 7.5% Pulmonary embolism 7.5% Recurrent respiratory infections 7.5% Babinski sign - Degeneration of the lateral corticospinal tracts - Dysarthria - Dysmetria - Flexion contracture - Intellectual disability - Juvenile onset - Lower limb muscle weakness - Lower limb spasticity - Pes cavus - Phenotypic variability - Skeletal muscle atrophy - Spastic gait - Spastic paraparesis - Spastic paraplegia - Spinocerebellar tract degeneration - 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.
Source: GARD