falan42/medcuad_data huggingface dataset:
Topic: Inclusion body myositis
Question: What is (are) Inclusion body myositis ?
Answer: Inclusion body myositis (IBM) is an inflammatory myopathy that is characterized by chronic, progressive muscle inflammation and muscle weakness. Symptoms usually begin after the age of 50, although the condition can occur earlier. The onset of muscle weakness usually occurs over months or years. This condition affects both the proximal (close to the trunk of the body) and distal (further away from the trunk) muscles. There is currently no effective treatment for IBM. The cause is unclear in most cases, but it can sometimes be inherited.
(Source: GARD)
Topic: Inclusion body myositis
Question: What are the symptoms of Inclusion body myositis ?
Answer: What are the signs and symptoms of Inclusion body myositis? The Human Phenotype Ontology provides the following list of signs and symptoms for Inclusion body myositis. 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) Autoimmunity 90% EMG abnormality 90% Skeletal muscle atrophy 90% Feeding difficulties in infancy 50% Myalgia 7.5% Autosomal dominant inheritance - Dysphagia - Hyporeflexia - Inflammatory myopathy - Phenotypic variability - Proximal muscle weakness - Rimmed vacuoles - Slow progression - 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: Renal nutcracker syndrome
Question: What is (are) Renal nutcracker syndrome ?
Answer: Renal nutcracker syndrome (NCS) is a condition that occurs when the left renal vein (the vein that carries blood purified by the left kidney) becomes compressed. The signs and symptoms of the condition can vary from person to person. Some affected people may be asymptomatic while others develop severe and persistent symptoms. When present, features of NCS may include blood in the urine (hematuria), orthostatic proteinuria, flank pain and/or abdominal pain. Some cases of mild NCS in children may be due to changes in body proportions associated with growth. Why NCS occurs or becomes symptomatic in adults is less clear. Treatment ranges from surveillance to surgical intervention and is based on the severity of symptoms and their expected reversibility when considering the affected person's age and stage of the syndrome.
(Source: GARD)
Topic: Renal nutcracker syndrome
Question: What are the symptoms of Renal nutcracker syndrome ?
Answer: What are the signs and symptoms of renal nutcracker syndrome? The signs and symptoms of renal nutcracker syndrome and the disease severity can vary from person to person. Some affected people may be asymptomatic while others have severe and persistent symptoms. Symptoms are often aggravated by physical activity. When present, symptoms of the condition may include blood in the urine (hematuria), orthostatic proteinuria, flank pain and/or abdominal pain. Some people may also experience orthostatic intolerance, which is characterized by symptoms such as light-headedness, palpitations, poor concentration, fatigue, nausea, dizziness, headache, sweating, weakness and occasionally fainting when upright standing. Men who are affected by renal nutcracker syndrome may develop a varicocele. Affected women may have gynecological symptoms such as dyspareunia and dysmenorrhea (painful periods).
(Source: GARD)
Topic: Renal nutcracker syndrome
Question: Is Renal nutcracker syndrome inherited ?
Answer: Is renal nutcracker syndrome inherited? Renal nutcracker syndrome is not inherited. Most cases occur sporadically in people with no family history of the condition. Although more than one family member may rarely be affected, this is thought to be a coincidence and not the result of a genetic predisposition.
(Source: GARD)
Topic: Renal nutcracker syndrome
Question: How to diagnose Renal nutcracker syndrome ?
Answer: How is Renal nutcracker syndrome diagnosed? A diagnosis of renal nutcracker syndrome is often suspected based on the presence of characteristic signs and symptoms once other conditions that cause similar features have been ruled out. Additional testing can then be ordered to support the diagnosis. This may include urine tests, imaging studies of the kidneys (i.e. doppler ultrasonography, computed tomography angiography, magnetic resonance angiography, retrograde venography), and/or cystoscopy.
(Source: GARD)
Topic: Renal nutcracker syndrome
Question: What are the treatments for Renal nutcracker syndrome ?
Answer: How might renal nutcracker syndrome be treated? Treatment of renal nutcracker syndrome is based on severity of symptoms and their expected reversibility when considering the affected person's age and stage of the syndrome. Adults with mild cases and affected children may be treated conservatively with regular surveillance. People younger than 18 years, specifically, are often observed for at least 2 years because as many as 75% will have complete resolution of symptoms without any significant intervention. ACE inhibitors may be effective in treating orthostatic proteinuria. In those with severe symptoms who do not respond to more conservative treatments, surgery is often recommended.
(Source: GARD)
Topic: Charcot-Marie-Tooth disease type 4B2
Question: What are the symptoms of Charcot-Marie-Tooth disease type 4B2 ?
Answer: What are the signs and symptoms of Charcot-Marie-Tooth disease type 4B2? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 4B2. 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) Areflexia - Autosomal recessive inheritance - Decreased motor nerve conduction velocity - Decreased number of peripheral myelinated nerve fibers - Difficulty walking - Distal amyotrophy - Distal muscle weakness - Distal sensory impairment - Foot dorsiflexor weakness - Glaucoma - Hammertoe - Hyporeflexia - Juvenile onset - Kyphoscoliosis - Onion bulb formation - Pes cavus - Segmental peripheral demyelination/remyelination - Sensorineural hearing impairment - Steppage gait - Talipes equinovarus - Ulnar claw - 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: Autosomal dominant intermediate Charcot-Marie-Tooth disease type B
Question: What are the symptoms of Autosomal dominant intermediate Charcot-Marie-Tooth disease type B ?
Answer: What are the signs and symptoms of Autosomal dominant intermediate Charcot-Marie-Tooth disease type B? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal dominant intermediate Charcot-Marie-Tooth disease type B. 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) Segmental peripheral demyelination 5% Areflexia - Autosomal dominant inheritance - Axonal degeneration - Decreased number of peripheral myelinated nerve fibers - Distal sensory impairment - Hyporeflexia - Juvenile onset - Onion bulb formation - Pes cavus - Segmental peripheral demyelination/remyelination - 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: Wyburn Mason's syndrome
Question: What is (are) Wyburn Mason's syndrome ?
Answer: Wyburn Mason's syndrome is a condition in which blood vessels do not form correctly in both the retina of one eye and a part of the brain.  These malformed blood vessels are called arteriovenous malformations (AVM).  Wyburn Mason's syndrome is present from birth (congenital) and the cause is unknown.  Individuals with this condition may have additional AVMs in other parts of the body, particularly the face.  The symptoms of this condition are quite variable and depend on the size, location, and shape of the AVMs.  Affected individuals may have no symptoms or may experience headaches, problems with vision, seizures, or partial paralysis (hemiparesis).  Treatment usually consists of periodic visits to the doctor to see if the AVMs are changing over time.
(Source: GARD)
Topic: Wyburn Mason's syndrome
Question: What are the symptoms of Wyburn Mason's syndrome ?
Answer: What are the signs and symptoms of Wyburn Mason's syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Wyburn Mason's 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 the retinal vasculature 90% Abnormality of the skin 90% Aneurysm 90% Peripheral arteriovenous fistula 90% Cerebral palsy 50% Cognitive impairment 50% Hemiplegia/hemiparesis 50% Migraine 50% Seizures 50% Visual impairment 50% Abnormality of eye movement 7.5% Abnormality of retinal pigmentation 7.5% Behavioral abnormality 7.5% Hearing impairment 7.5% Intracranial hemorrhage 7.5% Meningitis 7.5% Nausea and vomiting 7.5% Neurological speech impairment 7.5% Proptosis 7.5% Reduced consciousness/confusion 7.5% Tinnitus 7.5% 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: Marie Unna congenital hypotrichosis
Question: What are the symptoms of Marie Unna congenital hypotrichosis ?
Answer: What are the signs and symptoms of Marie Unna congenital hypotrichosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Marie Unna congenital hypotrichosis. 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 eye 90% Alopecia 90% Aplasia/Hypoplasia of the eyebrow 90% Coarse hair 90% Autosomal dominant inheritance - Hypotrichosis - Pili torti - Sparse body hair - Sparse eyebrow - Sparse eyelashes - 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: Harlequin ichthyosis
Question: What is (are) Harlequin ichthyosis ?
Answer: Harlequin ichthyosis is a severe genetic disorder that mainly affects the skin. The newborn infant is covered with plates of thick skin that crack and split apart. The thick plates can pull at and distort facial features and can restrict breathing and eating. Mutations in the ABCA12 gene cause harlequin ichthyosis. This condition is inherited in an autosomal recessive pattern.
(Source: GARD)
Topic: Harlequin ichthyosis
Question: What are the symptoms of Harlequin ichthyosis ?
Answer: What are the signs and symptoms of Harlequin ichthyosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Harlequin ichthyosis. 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 eyelid 90% Depressed nasal ridge 90% Hearing abnormality 90% Hyperkeratosis 90% Recurrent respiratory infections 90% Abnormality of the mouth 50% Limitation of joint mobility 50% Cataract 7.5% Dehydration 7.5% Foot polydactyly 7.5% Hand polydactyly 7.5% Malignant hyperthermia 7.5% Respiratory insufficiency 7.5% Self-injurious behavior 7.5% Sudden cardiac death 7.5% Autosomal recessive inheritance - Congenital ichthyosiform erythroderma - Ectropion - Premature birth - Proptosis - Rigidity - Short finger - 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: Harlequin ichthyosis
Question: What causes Harlequin ichthyosis ?
Answer: What causes harlequin ichthyosis? Harlequin ichthyosis is caused by mutations in the ABCA12 gene. This gene provides instructions for making a protein that is essential for the normal development of skin cells. This protein plays a major role in the transport of fats (lipids) in the outermost layer of skin (the epidermis). Some mutations in the ABCA12 gene prevent the cell from making any ABCA12 protein, while others lead to the production of an abnormally small version of the protein that cannot transport lipids properly. A loss of functional ABCA12 protein disrupts the normal development of the epidermis, resulting in the hard, thick scales characteristic of harlequin ichthyosis.
(Source: GARD)
Topic: Harlequin ichthyosis
Question: Is Harlequin ichthyosis inherited ?
Answer: How is harlequin ichthyosis inherited? Harlequin ichthyosis is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
(Source: GARD)
Topic: Harlequin ichthyosis
Question: How to diagnose Harlequin ichthyosis ?
Answer: Can harlequin ichthyosis be diagnosed before birth using amniocentesis or chorionic villus sampling? Yes, harlequin ichthyosis can be diagnosed before birth using either amniocentesis or chorionic villus sampling. Both of these procedures are used to obtain a sample of fetal DNA, which can be tested for mutations in the ABCA12 gene. The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a specific genetic test should contact a health care provider or a genetics professional.
(Source: GARD)
Topic: Autosomal dominant deafness-onychodystrophy syndrome
Question: What are the symptoms of Autosomal dominant deafness-onychodystrophy syndrome ?
Answer: What are the signs and symptoms of Autosomal dominant deafness-onychodystrophy syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal dominant deafness-onychodystrophy 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) Conical tooth 7.5% Selective tooth agenesis 7.5% Triphalangeal thumb 5% Anonychia - Autosomal dominant inheritance - Brachydactyly syndrome - Congenital onset - Hidrotic ectodermal dysplasia - Nail dystrophy - Sensorineural hearing impairment - Small nail - Toe syndactyly - 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: Naegeli syndrome
Question: What is (are) Naegeli syndrome ?
Answer: Naegeli syndrome belongs to a group of disorders known as ectodermal dysplasias. This condition is characterized by absent fingerprints, thickening of the palms and soles (palmoplantar keratoderma), decreased sweating (hypohidrosis), heat intolerance, patches of darker (hyperpigmented) skin, brittle nails, abnormally colored teeth, and early tooth loss. Naegeli syndrome is caused by mutations in the KRT14 gene and inherited in an autosomal dominant manner. Treatment is based on an individual's symptoms.
(Source: GARD)
Topic: Naegeli syndrome
Question: What are the symptoms of Naegeli syndrome ?
Answer: What are the signs and symptoms of Naegeli syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Naegeli 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 dental enamel 90% Abnormality of the fingernails 90% Abnormality of the toenails 90% Irregular hyperpigmentation 90% Palmoplantar keratoderma 90% Autosomal dominant inheritance - Carious teeth - Fragile nails - Heat intolerance - Hypohidrosis - Premature loss of teeth - Reticular hyperpigmentation - 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: Naegeli syndrome
Question: How to diagnose Naegeli syndrome ?
Answer: How is Naegeli syndrome diagnosed? In most cases of Naegeli syndrome, a diagnosis is made based on the typical clinical features of this condition. The clinical diagnosis may be confirmed by genetic testing of the KRT14 gene.  GeneTests lists a laboratory that performs genetic testing of the KRT14 gene. If you are interested in genetic testing for this condition, we recommend that you consult with a genetics professional.
(Source: GARD)
Topic: Naegeli syndrome
Question: What are the treatments for Naegeli syndrome ?
Answer: Is there a treatment for Naegeli syndrome? Treatment for Naegeli syndrome is based on an individual's symptoms. Dry skin can be moisturized with creams. To avoid overheating, affected individuals should wear appropriate clothing and use wet dressings. Dental care is needed treat cavities and tooth loss.
(Source: GARD)