sarnsrun/medquad huggingface dataset:
Topic: Loeys-Dietz syndrome type 2
Question: What are the symptoms of Loeys-Dietz syndrome type 2 ?
Answer: What are the signs and symptoms of Loeys-Dietz syndrome type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Loeys-Dietz syndrome type 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) Absent distal phalanges 5% Arnold-Chiari malformation 5% Atria septal defect 5% Bicuspid aortic valve 5% Bicuspid pulmonary valve 5% Cerebral aneurysm 5% Cleft palate 5% Craniosynostosis 5% Descending aortic aneurysm 5% Disproportionate tall stature 5% Hydrocephalus 5% Inguinal hernia 5% Intellectual disability 5% Mitral valve prolapse 5% Osteoporosis 5% Postaxial polydactyly 5% Syndactyly 5% Umbilical hernia 5% Abnormality of the sternum - Arachnodactyly - Ascending aortic aneurysm - Ascending aortic dissection - Autosomal dominant inheritance - Bifid uvula - Blue sclerae - Brachydactyly syndrome - Camptodactyly - Dermal translucency - Exotropia - Generalized arterial tortuosity - Hypertelorism - Joint contracture of the hand - Joint laxity - Malar flattening - Patent ductus arteriosus - Proptosis - Pulmonary artery aneurysm - Retrognathia - Scoliosis - 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: Ullrich congenital muscular dystrophy
Question: What is (are) Ullrich congenital muscular dystrophy ?
Answer: Ullrich congenital muscular dystrophy is a condition that mainly affects skeletal muscles (the muscles used for movement). Affected individuals show severe muscle weakness soon after birth, develop stiff joints (contractures) in their knees and elbows, and may have an unusual range of movement (hypermobility) in their wrists and ankles. This condition is caused by mutations in the COL6A1, COL6A2, and COL6A3 genes. Ullrich congenital muscular dystrophy is typically inherited in an autosomal recessive pattern. In rare cases, this condition may be inherited in an autosomal dominant pattern.
Source: GARD
Topic: Ullrich congenital muscular dystrophy
Question: What are the symptoms of Ullrich congenital muscular dystrophy ?
Answer: What are the signs and symptoms of Ullrich congenital muscular dystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Ullrich congenital 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) Autosomal dominant inheritance - Autosomal recessive inheritance - Congenital muscular dystrophy - Facial palsy - Failure to thrive - Feeding difficulties in infancy - Flexion contracture - Follicular hyperkeratosis - Generalized amyotrophy - High palate - Hip dislocation - Hyperextensibility at wrists - Hyperhidrosis - Increased laxity of ankles - Increased laxity of fingers - Increased variability in muscle fiber diameter - Infantile onset - Joint laxity - Kyphosis - Mildly elevated creatine phosphokinase - Motor delay - Muscle fiber necrosis - Neonatal hypotonia - Nocturnal hypoventilation - Progressive - Protruding ear - Proximal muscle weakness - Recurrent lower respiratory tract infections - Respiratory insufficiency due to muscle weakness - Round face - Scoliosis - Slender build - Spinal rigidity - Talipes equinovarus - Torticollis - Type 1 muscle fiber predominance - Variable expressivity - 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: Ullrich congenital muscular dystrophy
Question: What are the treatments for Ullrich congenital muscular dystrophy ?
Answer: How might Ullrich muscular dystrophy be treated? Physical therapy, including early mobilization, regular stretching and splinting, is the main focus of supportive care. Respiratory support and night-time ventilation often becomes necessary in the first or second decade of life. Prevention of chest infections may be achieved with the use of antibiotics. Feeding difficulties leading to failure to thrive may be managed by gastrostomy. Surgery may be needed for contractures and scoliosis. Some reports indicate that people with Ullrich congenital muscular dystrophy may may benefit from cyclosporin A. More studies into the benefits of this therapy are needed.
Source: GARD
Topic: Isolated corpus callosum agenesis
Question: What is (are) Isolated corpus callosum agenesis ?
Answer: Agenesis of the corpus callosum (ACC) is a birth defect in which the structure that connects the two sides of the brain (the corpus callosum) is partially or completely absent. This birth defect can occur as an isolated condition or in combination with other abnormalities. The effects of agenesis of the corpus callosum range from subtle or mild to severe, depending on associated brain abnormalities. Treatment usually involves management of symptoms and seizures if they occur.
Source: GARD
Topic: Isolated corpus callosum agenesis
Question: What are the symptoms of Isolated corpus callosum agenesis ?
Answer: What are the signs and symptoms of Isolated corpus callosum agenesis? The Human Phenotype Ontology provides the following list of signs and symptoms for Isolated corpus callosum agenesis. 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 of the corpus callosum 90% Cognitive impairment 90% Abnormality of the fontanelles or cranial sutures 50% EEG abnormality 50% Microcephaly 50% Abnormality of the pulmonary artery 7.5% Abnormality of the ureter 7.5% Aplasia/Hypoplasia of the cerebellum 7.5% Chorioretinal coloboma 7.5% Cleft palate 7.5% Dandy-Walker malformation 7.5% Deeply set eye 7.5% Displacement of the external urethral meatus 7.5% Frontal bossing 7.5% Macrocephaly 7.5% Strabismus 7.5% Agenesis of corpus callosum - Autosomal recessive inheritance - Camptodactyly - Growth delay - Intellectual disability - Joint contracture of the hand - Preauricular skin tag - Prominent forehead - 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: Odontoma dysphagia syndrome
Question: What are the symptoms of Odontoma dysphagia syndrome ?
Answer: What are the signs and symptoms of Odontoma dysphagia syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Odontoma dysphagia 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) Atherosclerosis 90% Hepatic failure 90% Tracheoesophageal fistula 90% Autosomal dominant inheritance - Dysphagia - Odontoma - 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: Monoclonal gammopathy of undetermined significance
Question: What is (are) Monoclonal gammopathy of undetermined significance ?
Answer: Monoclonal gammopathy of undetermined significance (MGUS) is a condition in which an abnormal protein called monoclonal protein is detected in the blood. MGUS typically does not cause any problems, although some affected people may experience numbness, tingling or weakness. In some cases, MGUS may progress over time to certain forms of blood cancer (such as multiple myeloma, macroglobulinemia, or B-cell lymphoma). MGUS is thought to be a multifactorial condition that is likely associated with the effects of multiple genes in combination with lifestyle and environmental factors. People with MGUS are usually monitored closely to ensure that the levels of monoclonal protein do not rise and other problems do not develop. Those with stable levels of monoclonal protein typically do not require treatment.
Source: GARD
Topic: Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
Question: What is (are) Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation ?
Answer: Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL) is a rare neurological disease characterized by slowly progressive cerebellar ataxia (lack of control of the movements) and spasticity with dorsal column dysfunction (decreased position and vibration sense) in most patients. The disease involves the legs more than the arms. It usually starts in childhood or adolescence, but in some cases not until adulthood. Difficulty speaking develops over time. Other symptoms may include: epilepsy; learning problems; cognitive decline; and reduced consciousness, neurologic deterioration, and fever following minor head trauma. Many affected individuals become wheelchair dependent in their teens or twenties. The earlier the onset the more severe the disease is. The diagnosis is made in persons who had the characteristic abnormalities observed on brain and spinal cord MRI scans and with the genetic test identifiying the DARS2 gene alteration (mutation). There is still no cure and treatment is supportive and includes physical therapy and rehabilitation to improve movement function, and the following as needed: antiepileptic drugs, special education and speech therapy.
Source: GARD
Topic: Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
Question: What are the symptoms of Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation ?
Answer: What are the signs and symptoms of Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation ? The Human Phenotype Ontology provides the following list of signs and symptoms for Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation . 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) Cognitive impairment 5% Dysarthria 5% Ataxia - Autosomal recessive inheritance - Babinski sign - Hyperreflexia - Hyporeflexia - Leukoencephalopathy - Motor delay - Muscle weakness - Nystagmus - Peripheral axonal neuropathy - Skeletal muscle atrophy - Slow progression - Spasticity - Tremor - Variable expressivity - 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: Fryns syndrome
Question: What is (are) Fryns syndrome ?
Answer: Fryns syndrome is a condition that affects the development of many parts of the body. Signs and symptoms vary widely among affected individuals. Many affected individuals have a defect in the diaphragm muscle such as a congenital diaphragmatic hernia (a hole in the diaphragm present at birth). This may allow the stomach and intestines to move into the chest, which can result in pulmonary hypoplasia (underdevelopment of the lungs). Other signs and symptoms may include abnormalities of the fingers and toes; distinctive facial features; severe developmental delay and intellectual disability; and abnormalities of the brain, cardiovascular system, gastrointestinal system, kidneys, and genitalia. Most affected individuals die before birth or in early infancy. The cause of the condition is not known, but it is thought to be genetic and appears to be inherited in an autosomal recessive manner.
Source: GARD
Topic: Fryns syndrome
Question: Is Fryns syndrome inherited ?
Answer: How is Fryns syndrome inherited? Although the exact cause of Fryns syndrome is not currently known (and no disease-causing gene has yet been identified), it is thought to be genetic because it tends to "run in families" and has features common to other genetic disorders. It appears to be inherited in an autosomal recessive manner. This means that both copies of the disease-causing gene in each cell of the body (one copy inherited from each parent) have mutations. The parents of an affected individual are referred to as carriers, who typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier.
Source: GARD
Topic: Cramp-fasciculation syndrome
Question: What is (are) Cramp-fasciculation syndrome ?
Answer: Cramp-fasciculation syndrome (CFS) is a rare condition of the muscles. Affected people have persistent muscle twitching (fasciculations) and cramping, which can lead to muscle discomfort, pain, or tiredness. Muscles in the leg are most commonly affected, although this condition may involve several parts of the body. Symptoms are thought to be due to overactivity of the associated nerves. In most cases, CFS occurs sporadically in people with no family history of the condition. There is limited information about the treatment of CFS, but certain medications have been reported as beneficial in individual cases.
Source: GARD
Topic: Cramp-fasciculation syndrome
Question: What are the symptoms of Cramp-fasciculation syndrome ?
Answer: What are the signs and symptoms of cramp-fasciculation syndrome? Cramp-fasciculation syndrome (CFS) is primarily associated with severe muscle cramps and muscle twitches occurring in otherwise healthy people. These symptoms are often triggered by physical activity and may be relieved by stretching exercises and/or masssage. Muscles in the thighs and calves are most commonly affected, although other muscles (i.e. arm, chest) can also be involved. The severity of the condition varies significantly. In severe cases, CFS can interfere with daily activities (i.e. work, household chores) and quality of life.
Source: GARD
Topic: Cramp-fasciculation syndrome
Question: What causes Cramp-fasciculation syndrome ?
Answer: What causes cramp-fasciculation syndrome? In many cases, the exact underlying cause of cramp-fasciculation syndrome (CFS) is unknown (idiopathic). In general, it is thought to be related to abnormal excitability (overactivity) of peripheral neurons. Some cases of CFS are associated with: Genetic disorders Autoimmune conditions Peripheral neuropathy Anterior-horn-cell disease Metabolic abnormalities
Source: GARD
Topic: Cramp-fasciculation syndrome
Question: How to diagnose Cramp-fasciculation syndrome ?
Answer: How is cramp-fasciculation syndrome diagnosed?  A diagnosis of cramp-fasciculation syndrome is generally based on the presence of characteristic signs and symptoms. Namely, a history of frequent muscle cramps, twitching, and pain (often worsened by exercise) without muscle weakness or wasting is suggestive of the condition. It is also important to rule out other conditions that may cause similar features. Electromyography (EMG) or repetitive nerve stimulation studies may also be done to assess the health of muscles and the nerves that control them. In repetitive nerve stimulation studies, muscle responses are recorded when the nerves are repetitively stimulated by small pulses of electricity.
Source: GARD
Topic: Cramp-fasciculation syndrome
Question: What are the treatments for Cramp-fasciculation syndrome ?
Answer: How might cramp-fasciculation syndrome be treated? There is limited information in the medical literature about the treatment of cramp-fasciculation syndrome (CFS). Much of what is available describes individual cases. Some people with CFS improve without treatment. Treatment with carbamazepine, gabapentin, or pregabalin (medications that reduce the hyper-excitability of nerves) was described as helpful in improving symptoms in individual cases. Immunosuppressive therapy (e.g., prednisone) has been used to treat cases of CFS that did not respond to other treatments. For severe cases, additional treatment options may be considered. Decisions regarding treatment should be carefully considered and discussed with a knowledgeable healthcare provider.
Source: GARD
Topic: Viljoen Kallis Voges syndrome
Question: What are the symptoms of Viljoen Kallis Voges syndrome ?
Answer: What are the signs and symptoms of Viljoen Kallis Voges syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Viljoen Kallis Voges 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 calvarial morphology 90% Abnormality of the palate 90% Abnormality of thumb phalanx 90% Cognitive impairment 90% Hypertonia 90% Hypoplasia of the zygomatic bone 90% Joint hypermobility 90% Low-set, posteriorly rotated ears 90% Macrotia 90% Microcephaly 90% Prominent nasal bridge 90% Scoliosis 90% Short stature 90% Cataract 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: Disseminated superficial actinic porokeratosis
Question: What is (are) Disseminated superficial actinic porokeratosis ?
Answer: Disseminated superficial actinic porokeratosis (DSAP) is a skin condition that causes dry patches. It is characterized by a large number of small, brownish patches with a distinctive border, found most commonly on sun-exposed areas of the skin (particularly the arms and legs). DSAP usually starts during the third or fourth decade of life and rarely affects children. Lesions usually appear in summer and improve or disappear during winter. While it is usually benign (not cancerous), squamous cell carcinoma or Bowens disease may occasionally develop within patches. DSAP may be inherited in an autosomal dominant matter or may occur sporadically (in people with no family history of DSAP). Some cases are caused by a change (mutation) in the MVK or SART3 genes. Treatment is generally not effective long-term but may include sun protection, topical medications, cryotherapy, and/or photodynamic therapy.
Source: GARD