sarnsrun/medquad huggingface dataset:
Topic: X-linked Charcot-Marie-Tooth disease type 1
Question: What are the symptoms of X-linked Charcot-Marie-Tooth disease type 1 ?
Answer: What are the signs and symptoms of X-linked Charcot-Marie-Tooth disease type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked Charcot-Marie-Tooth disease type 1. 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) Decreased nerve conduction velocity 90% Muscle weakness 90% Pes cavus 90% Skeletal muscle atrophy 90% Impaired pain sensation 50% Gait disturbance 7.5% Hearing impairment 7.5% Hemiplegia/hemiparesis 7.5% Incoordination 7.5% Kyphosis 7.5% Neurological speech impairment 7.5% Reduced consciousness/confusion 7.5% Scoliosis 7.5% Tremor 7.5% Babinski sign 5% Cerebellar atrophy 5% Dysmetria 5% Lower limb hyperreflexia 5% Nystagmus 5% Sensorineural hearing impairment 5% Achilles tendon contracture - Axonal degeneration - Decreased motor nerve conduction velocity - Decreased number of peripheral myelinated nerve fibers - Difficulty walking - Distal amyotrophy - Distal muscle weakness - Distal sensory impairment - Dysarthria - Dysphagia - Hyporeflexia - Incomplete penetrance - Motor aphasia - Motor delay - Onion bulb formation - Paraparesis - Sensory neuropathy - Slow progression - Toe walking - X-linked dominant inheritance - 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: Hypomandibular faciocranial dysostosis
Question: What are the symptoms of Hypomandibular faciocranial dysostosis ?
Answer: What are the signs and symptoms of Hypomandibular faciocranial dysostosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypomandibular faciocranial dysostosis. 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) Anteverted nares 90% Aplasia/Hypoplasia of the tongue 90% Cognitive impairment 90% Low-set, posteriorly rotated ears 90% Malar flattening 90% Recurrent respiratory infections 90% Short nose 90% Choanal atresia 50% Cleft palate 50% Craniosynostosis 50% Laryngeal atresia 50% Narrow mouth 50% Optic nerve coloboma 50% Polyhydramnios 50% Proptosis 50% Abnormality of female internal genitalia 7.5% Atria septal defect 7.5% Patent ductus arteriosus 7.5% Tracheal stenosis 7.5% Trigonocephaly 7.5% Upslanted palpebral fissure 7.5% Aglossia - Autosomal recessive inheritance - Choanal stenosis - Coronal craniosynostosis - Hypoplasia of the maxilla - Pursed lips - 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: Progeroid syndrome, Penttinen type
Question: What are the symptoms of Progeroid syndrome, Penttinen type ?
Answer: What are the signs and symptoms of Progeroid syndrome, Penttinen type? The Human Phenotype Ontology provides the following list of signs and symptoms for Progeroid syndrome, Penttinen 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) Scoliosis 5% Wormian bones 5% Brachydactyly syndrome - Delayed cranial suture closure - Delayed eruption of teeth - Delayed skeletal maturation - Growth abnormality - Hyperkeratosis - Hypermetropia - Hypoplasia of midface - Lipoatrophy - Narrow nose - Osteolytic defects of the phalanges of the hand - Osteopenia - Proptosis - Sensorineural hearing impairment - Slender long bone - Sparse hair - Thin calvarium - Thin vermilion border - Thyroid-stimulating hormone excess - 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: Prosthetic joint infection
Question: What is (are) Prosthetic joint infection ?
Answer: A prosthetic joint infection (PJI) is a rare complication of joint replacement surgery, also known as arthroplasty.  Arthroplasty is done to help relieve pain and restore function in a severely diseased joint, such as a knee, hip or shoulder.  Approximately 0.5 to 1 percent of people with replacement joints develop a PJI.  Infections can occur early in the course of recovery from joint replacement surgery (within the first two months) or much later.  Signs and symptoms of PJI include fever, chills, drainage from the surgical site, and increasing redness, tenderness, swelling and pain of the affected joint.  Prosthetic joint infections are often hard to treat because of the development of a structure called a biofilm within the joint. A biofilm develops when bacteria adhere to the solid surface of the artificial joint. The biofilm can act as a kind of shield to some of the bacteria, making it difficult for the bacteria to be found and destroyed by the body's defenses or by antibiotic medications. An infected joint replacement usually requires surgery to remove the artificial parts and potent antibiotics to kill the bacteria.
Source: GARD
Topic: Myoclonic epilepsy with ragged red fibers
Question: What is (are) Myoclonic epilepsy with ragged red fibers ?
Answer: Myoclonic epilepsy with ragged red fibers (MERRF) is a multisystem disorder characterized by myoclonus, which is often the first symptom, followed by generalized epilepsy, ataxia, weakness, and dementia. Symptoms usually first appear in childhood or adolescence after normal early development. The features of MERRF vary widely from individual to individual, even within families. Other common findings include hearing loss, short stature, optic atrophy, and cardiomyopathy with Wolff-Parkinson-White (WPW) syndrome. The diagnosis is based on clinical features and a muscle biopsy finding of ragged red fibers (RRF). In over 80% of cases, MERRF is caused by mutations in the mitochondrial gene called MT-TK. Several other mitochondrial genes have also been reported to cause MERRF, but many of the individuals with mutations in these other genes have additional signs and symptoms. Seizures associated with MERRF are generally treated with conventional anticonvulsant therapy.  Coenzyme Q10 and L-carnitine are often used with the hope of improving mitochondrial function.
Source: GARD
Topic: Myoclonic epilepsy with ragged red fibers
Question: Is Myoclonic epilepsy with ragged red fibers inherited ?
Answer: Is myoclonic epilepsy associated with ragged red fibers genetic? If so, how is it inherited? MERRF is caused by mutations in the mitochondrial DNA and is transmitted by maternal inheritance. It is called maternal inheritance because a child inherits the great majority of their mitochondria from their mother through the egg.   The Centre for Genetics Education provides a detail description of maternal inheritance.  The mother of an individual with MERRF usually has a mitochondrial mutation and may or may not have symptoms.  Or, an individual with MERRF may have a mitochondrial mutation that just occurred in them, called a de novo mutation.  If the mother has the mitochondrial mutation, all of her children will inherit the mutation and may or may not have symptoms.  All of her daughters children will also inherit the mitochondrial mutation.  Her son's children are not at risk of inheriting the mutation.
Source: GARD
Topic: Myotonic dystrophy
Question: What is (are) Myotonic dystrophy ?
Answer: Myotonic dystrophy is an inherited condition that affects the muscles and other body systems. It is the most common form of muscular dystrophy that begins in adulthood, usually in a person's 20s or 30s. This condition is characterized by progressive muscle loss and weakness, particularly in the lower legs, hands, neck, and face. People with myotonic dystrophy often have prolonged muscle tensing (myotonia) and are not able to relax certain muscles after use. The severity of the condition varies widely among affected people, even among members of the same family. There are two types of myotonic dystrophy: myotonic dystrophy type 1 and myotonic dystrophy type 2. The symptoms in people with myotonic dystrophy type 2 tend to be milder than in those with type 1. Although both types are inherited in an autosomal dominant pattern, they are caused by mutations in different genes. Myotonic dystrophy type 1 is caused by mutations in the DMPK gene, while type 2 is caused by mutations in the CNBP gene.
Source: GARD
Topic: Myotonic dystrophy
Question: What causes Myotonic dystrophy ?
Answer: What causes myotonic dystrophy? Myotonic dystrophy is caused by mutations called nucleotide repeat expansions in either the DMPK gene (in type 1) or the CNBP gene (in type 2). Nucleotide repeat expansions occur when a piece of DNA is abnormally repeated a number of times, which makes the gene unstable. In myotonic dystrophy, the gene instability leads to a series of events that ultimately prevent cells in muscles and other tissues from acting normally, leading to the features of the condition. The exact functions of these genes in not well understood. The DMPK gene may play a role in communication within cells, specifically in cells of the heart, brain, and skeletal muscles. The CNBP gene gives directions to make a protein found mainly in cells of the heart and skeletal muscles, where it is thought to regulate the activities of other genes.
Source: GARD
Topic: Myotonic dystrophy
Question: What are the treatments for Myotonic dystrophy ?
Answer: What treatment is available for for myotonic dystrophy? There is currently no cure or specific treatment for myotonic dystrophy. Treatment is aimed at managing symptoms and minimizing disability. Routine physical activity appears to help maintain muscle strength and endurance and to control musculoskeletal pain. Canes, braces, walkers and scooters can help as muscle weakness progresses. There are also medications that can lessen the myotonia. Pain management can be achieved through the use of mexilitene, gabapentin, nonsteroidal anti-inflammatory drugs (NSAIDS), low-dose thyroid replacement, low-dose steroids (prednisone), and tricyclic antidepressants. Other symptoms of myotonic dystrophy can also be treated. Heart problems should be followed by a cardiologist, but may be managed through insertion of a pacemaker and regular monitoring of cardiac function. Cataracts can be surgically corrected.
Source: GARD
Topic: Antecubital pterygium
Question: What is (are) Antecubital pterygium ?
Answer: Antecubital pterygium is characterized by and antecubital webbing, posterior subluxation (dislocation) of radial head, maldevelopment of radioulnar joint, and limited elbow extension with unimpeded elbow flexion. Most reported cases come from the island of Mauritius or nearby islands. It is inherited in an autosomal dominant fashion. This condition is sometimes found as a symptom of nail-patella syndrome.
Source: GARD
Topic: Antecubital pterygium
Question: What are the symptoms of Antecubital pterygium ?
Answer: What are the signs and symptoms of Antecubital pterygium? The Human Phenotype Ontology provides the following list of signs and symptoms for Antecubital pterygium. 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 fingernails 90% Abnormality of the toenails 90% Abnormality of the ulna 90% Amniotic constriction ring 90% Aplasia/Hypoplasia of the radius 90% Limitation of joint mobility 90% Abnormality of pelvic girdle bone morphology 50% Elbow dislocation 50% Camptodactyly of finger 7.5% Displacement of the external urethral meatus 7.5% Glaucoma 7.5% Hand polydactyly 7.5% Nephropathy 7.5% Patellar aplasia 7.5% Urogenital fistula 7.5% Antecubital pterygium - Autosomal dominant inheritance - Limited elbow extension - Maldevelopment of radioulnar joint - Posterior subluxation of radial head - 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: Spinocerebellar ataxia 11
Question: What is (are) Spinocerebellar ataxia 11 ?
Answer: Spinocerebellar ataxia type 11 (SCA11) is characterized by progressive cerebellar ataxia (difficulty walking and balance) and abnormal eye signs (jerky pursuit, horizontal and vertical movements (nystagmus), pyramidal features (increased muscular tonus, increased reflexes and an abnormal reflex known as Babinski sign and inability to make to perform fine movements), peripheral neuropathy with numbness, weakness or pain in the feet or hands or other places of the body and dystonia. It is a very rare disease and very few patients have been reported to date. In them, age of onset ranged from the early teens to the second decade of life and life span was normal. Diagnosis is based on signs and symptoms and with a genetic exam showing an alteration (mutation) in the TTBK2 gene. It is inherited in an autosomal dominant manner. Treatment may include speech and language therapy for talking and swallowing problems, occupational therapy, including home adaptations, physiotherapy and use of assistive walking devices and ankle-foot orthotics (AFOs) for those with neuropathy.
Source: GARD
Topic: Spinocerebellar ataxia 11
Question: What are the symptoms of Spinocerebellar ataxia 11 ?
Answer: What are the signs and symptoms of Spinocerebellar ataxia 11? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 11. 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) Adult onset - Autosomal dominant inheritance - Cerebellar atrophy - Dysarthria - Hyperreflexia - Nystagmus - Progressive cerebellar ataxia - 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: Spinocerebellar ataxia 11
Question: Is Spinocerebellar ataxia 11 inherited ?
Answer: How is spinocerebellar ataxia type 11 inherited? SCA11 is inherited in an autosomal dominant manner. The rate of de novo mutations is not known. Each child of an individual with SCA11 has a 50% chance of inheriting the mutation. Prenatal diagnosis for at-risk pregnancies is possible if the diagnosis has been confirmed by molecular genetic testing in a parent. Each child of an individual with SCA11 has a 50% chance of inheriting the mutation. Genetic testing of adults who do not have any symptoms but are at-risk of having inherited the mutation is possible. However, testing is not useful in predicting age of onset, severity, type of symptoms, or rate of progression in individuals who do not have any symptom. The affected family member should be tested first to confirm the molecular diagnosis in the family. The best person who can answer questions and address any concerns about inheritance questions is a genetic professional. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral. The following online resources can also help you find a genetics professional in your community:  GeneTests offers a searchable directory of U.S. and international genetics and prenatal diagnosis clinics. https://www.genetests.org/clinics  The National Society of Genetic Counselors provides a searchable directory of US and international genetic counseling services. http://nsgc.org/p/cm/ld/fid=164  The American College of Medical Genetics has a searchable database of US genetics clinics. https://www.acmg.net/ACMG/Find_Genetic_Services/ACMG/ISGweb/FindaGeneticService.aspx?hkey=720856ab-a827-42fb-a788-b618b15079f9  The University of Kansas Medical Center provides a list of US and international genetic centers, clinics, and departments. http://www.kumc.edu/GEC/prof/genecntr.html  The American Society of Human Genetics maintains a database of its members, which includes individuals who live outside of the United States. Visit the link to obtain a list of the geneticists in your country, some of whom may be researchers that do not provide medical care. http://www.ashg.org/pages/member_search.shtml The Genetic Testing Registry (GTR) is a centralized online resource for information about genetic tests. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. Please see a list of laboratories offering the genetic test for spinocerebellar ataxia type 11. For detailed information on testing, inheritance and genetic counseling and a comprehensive review of spinocerebellar ataxia type 11 you can visit GeneReviews. GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. http://www.ncbi.nlm.nih.gov/books/NBK1757/
Source: GARD
Topic: Mesomelic dysplasia Kantaputra type
Question: What are the symptoms of Mesomelic dysplasia Kantaputra type ?
Answer: What are the signs and symptoms of Mesomelic dysplasia Kantaputra type? The Human Phenotype Ontology provides the following list of signs and symptoms for Mesomelic dysplasia Kantaputra 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) Abnormality of the ankles 90% Abnormality of the fibula 90% Abnormality of the humerus 90% Camptodactyly of finger 90% Micromelia 90% Short stature 90% Tarsal synostosis 90% Clinodactyly of the 5th finger 50% Synostosis of carpal bones 50% Ulnar deviation of finger 50% Abnormality of the ribs 7.5% Cubitus valgus 7.5% Talipes 7.5% Vertebral segmentation defect 7.5% Autosomal dominant inheritance - Carpal synostosis - Mesomelia - Radial bowing - 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