bowang0911/MedQuAD huggingface dataset:
How might hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) be diagnosed? Hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) is diagnosed by a magnetic resonance imaging (MRI) scan of the brain.  When the following three features are identified in the brain of an affected individuals, the diagnosis of H-ABC can be made: Decreased myelin (hypomyelination) in the brain.  Myelin usually forms a protective covering around brain cells.  In H-ABC, this covering is thinner than usual which makes it difficult for nerve cells to work properly. Breakdown (atrophy) of the basal ganglia, a part of the brain that directs and controls movement. Atrophy of the cerebellum, another part of the brain that controls movement.
How might hypomelination with atrophy of basal ganglia and cerebellum (H-ABC) be treated? Unfortunately, there is no known cure for hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC).  However, there is a case report of one patient's movement difficulties improving somewhat after he took the medication levodopa-carbidopa.  Another patient showed improvement in movement symptoms after taking folinic acid supplements.
What are the signs and symptoms of Osteoporosis oculocutaneous hypopigmentation syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteoporosis oculocutaneous hypopigmentation 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) Generalized osteoporosis - Hypopigmentation of the skin - Ocular albinism - 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.
Vein of Galen aneurysm is a rare form of arteriovenous malformation in which a particular vein at the base of the brain, the vein of Galen, dilates causing too much blood to rush to the heart and leading to congestive heart failure. Sometimes the defect will be recognized on an ultrasound before birth, but most often it is seen in infants who experience rapid heart failure. In less severe cases, a child may develop hydrocephalus because the enlarged malformation blocks the normal flow or absorption of cerebrospinal fluid. Although the exact cause remains unknown, this condition appears to be a result of a defect in early fetal development.
What are the signs and symptoms of Vein of Galen aneurysm? The Human Phenotype Ontology provides the following list of signs and symptoms for Vein of Galen aneurysm. 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 cerebral vasculature 90% Aneurysm 50% Peripheral arteriovenous fistula 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.
Potocki-Shaffer syndrome is a contiguous gene deletion syndrome associated with deletions in a specific region of chromosome 11 (11p11.2). The characteristic features of Potocki-Shaffer syndrome include openings in the two bones that form the top and sides of the skull (enlarged parietal foramina), multiple benign bone tumors called exostoses, intellectual disability, developmental delay, a distinctive facial appearance, autism and problems with vision and hearing. In some cases, individuals with the syndrome may have a defect in the heart, kidneys, or urinary tract. The features of Potocki-Shaffer syndrome result from the loss of several genes on the short (p) arm of chromosome 11. In particular, the deletion of a gene called ALX4 causes enlarged parietal foramina, while the loss of another gene, EXT2, causes the multiple exostoses. Another condition called WAGR syndrome is caused by a deletion of genetic material in the p arm of chromosome 11, specifically at position 11p13. Occasionally, a deletion is large enough to include the 11p11.2 and 11p13 regions. Individuals with such a deletion have signs and symptoms of both Potocki-Shaffer syndrome and WAGR syndrome. A referral to an early childhood intervention and developmental-behavioral specialist at the time of diagnosis and to have an evaluation for vision and hearing problems, as well as a full skeletal survey at the time of diagnosis or by age 3 years, whichever is later, is recommended.
What are the signs and symptoms of Potocki-Shaffer syndrome? The signs and symptoms can vary depending on the area and amount deleted. Some individuals with the syndrome have few issues and lead a normal life while others are very severely affected. The following signs and symptoms may be present:  Enlarged parietal foramina  Multiple exostoses  Intellectual disability  Developmental delay  Failure to thrive  Autism  Behavioral problems  Deafness  Myopia (nearsightedness)  Nystagmus  Cataract  Strabismus  Aniridia  Distinct facial features (microcephaly, epicanthus, sparse eyebrows, prominent nose, small mandible)  Kidney problems MedlinePlus has information pages on some of these signs and symptoms or can direct to you other trusted websites that offer information. If you would like to read more, visit the link and enter the sign and symptom about which you would like to learn.  The Human Phenotype Ontology provides the following list of signs and symptoms for Potocki-Shaffer 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) Cognitive impairment 90% Decreased skull ossification 90% Exostoses 90% Craniofacial dysostosis 33% Cutaneous syndactyly between fingers 2 and 5 5% Multiple exostoses 10/10 Downturned corners of mouth 8/9 Micropenis 5/6 Single transverse palmar crease 5/6 Parietal foramina 9/11 Intellectual disability 7/10 Brachycephaly 6/9 Short philtrum 6/9 Sparse lateral eyebrow 6/9 Brachydactyly syndrome 5/8 Muscular hypotonia 5/9 Wormian bones 3/6 Epicanthus 4/9 Telecanthus 4/9 Seizures 2/11 Broad forehead - Contiguous gene syndrome - High forehead - Short nose - Turricephaly - Underdeveloped nasal alae - Wide nasal bridge - 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.
How might Potocki-Shaffer be treated? The treatment depends on the signs and symptoms present in the affected individual. The following treatment options or recommendations might be offered: Treatment of Wilms tumor, which may include surgery to remove the kidney, radiation therapy and chemotherapy. Treatment of aniridia is aimed at maintaining vision. Glaucoma or cataracts can be treated with medication or surgery. Contact lenses should be avoided because they can damage the cornea. In cases of abnormalities in the testes or ovaries, surgery may be needed to remove them or to prevent cancer (gonadoblastoma). After they testes or ovaries are removed hormone replacement is needed. Children with undescended testicles (cryptorchidism) may also need surgery. In a study with 6 patients and a review of 31 previously reported cases of Potocki-Shaffer syndrome, the researchers made several recommendations for the care of children with the syndrome. These include: Referral to early childhood intervention and a developmental-behavioral specialist at the time of diagnosis; A full skeletal survey at diagnosis or by age three; Screening for strabismus and nystagmus by the pediatrician (at every well-child examination), and referral to a pediatric ophthalmologist at diagnosis or by age six months; Hearing loss evaluations in infants with the syndrome and after that at three months of age; audiogram at age one year and annually thereafter; Fluorescence in situ hybridization (FISH) studies and genetic counseling should be offered to the parents of a child with Potocki-Shaffer syndrome; Referral to a specialist in development and behavior at the time of diagnosis for vision therapy, physical, occupational and speech therapy; Abdominal and kidney ultrasound due to the possible risk of developing a Wilms' tumor, especially in those individuals who have a deletion in the 11p13 region;  Cardiac evaluation to detect any heart abnormalities; Thyroid hormone level measurements to detect the hypothyroidism; and MRI scans are recommended if the individual has seizures, microcephaly, or global developmental delay.  Some individuals with Potocki-Shaffer syndrome, WAGR syndrome, and renal insufficiency may be treated with dialysis or kidney transplant.
What are the signs and symptoms of Monomelic amyotrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Monomelic amyotrophy. 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 upper limb 90% Asymmetric growth 90% EMG abnormality 90% Acrocyanosis 50% Decreased nerve conduction velocity 50% Abnormality of the immune system 7.5% Involuntary movements 7.5% Tremor 7.5% EMG: neuropathic changes - Fasciculations - Insidious onset - Interosseus muscle atrophy - Sporadic - Upper limb muscle weakness - 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.
Paramyotonia congenita is an inherited condition that affects muscles used for movement (skeletal muscles), mainly in the face, neck, arms, and hands. Symptoms begin in infancy or early childhood and include episodes of sustained muscle tensing (myotonia) that prevent muscles from relaxing normally and lead to muscle weakness.  Symptoms in paramyotonia congenita worsen during exposure to cold temperatures, and unlike many other forms of myotonia, worsen with exercise and repeated movements. This condition is caused by mutations in the SCN4A gene and is inherited in an autosomal dominant pattern.
What are the signs and symptoms of Paramyotonia congenita? The Human Phenotype Ontology provides the following list of signs and symptoms for Paramyotonia congenita. 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) Neonatal hypotonia 5% Autosomal dominant inheritance - Feeding difficulties - Handgrip myotonia - Infantile onset - Inspiratory stridor - Muscle stiffness - Muscle weakness - Myalgia - Paradoxical myotonia - Percussion myotonia - Phenotypic variability - Skeletal muscle hypertrophy - 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.
What are the signs and symptoms of Dystonia 18? The Human Phenotype Ontology provides the following list of signs and symptoms for Dystonia 18. 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) Irritability 5% Migraine 5% Ataxia - Autosomal dominant inheritance - Cerebral atrophy - Choreoathetosis - Cognitive impairment - Dyskinesia - Dystonia - EEG abnormality - Hypoglycorrhachia - Incomplete penetrance - Reticulocytosis - 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.
AL amyloidosisis the most common form of amyloidosis, a group of disorders in which an abnormal protein called amyloid builds up in tissues and organs. The signs and symptoms of AL amyloidosis vary among patients because the build up may occur in the tongue, intestines, muscles, joints, nerves, skin, ligaments, heart, liver, spleen, or kidneys. To diagnose AL amyloidosis, healthcare professionals use blood or urine tests to identify signs of amyloid protein and a biopsy to confirm the diagnosis. Treatment may include chemotherapy directed at the abnormal plasma cells, stem cell transplantation, or other treatments based on which symptoms have developed.
What are the signs and symptoms of Pulmonary edema of mountaineers? The Human Phenotype Ontology provides the following list of signs and symptoms for Pulmonary edema of mountaineers. 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 - Elevated pulmonary artery pressure - Pulmonary edema - 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.
What are the signs and symptoms of Cornea guttata with anterior polar cataract? The Human Phenotype Ontology provides the following list of signs and symptoms for Cornea guttata with anterior polar cataract. 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) Anterior polar cataract - Autosomal dominant inheritance - Visual impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What are the signs and symptoms of Arachnodactyly - intellectual disability - dysmorphism? The Human Phenotype Ontology provides the following list of signs and symptoms for Arachnodactyly - intellectual disability - dysmorphism. 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) Arachnodactyly 90% Cognitive impairment 90% Decreased body weight 90% Long face 90% Long toe 90% Narrow face 90% Thin vermilion border 90% Trismus 90% Abnormality of calvarial morphology 50% Abnormality of immune system physiology 50% Abnormality of the genital system 50% Clinodactyly of the 5th finger 50% Hypertelorism 50% Hypertonia 50% Joint hypermobility 50% Long philtrum 50% Microcephaly 50% Narrow mouth 50% Pointed chin 50% Strabismus 50% Triphalangeal thumb 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.
What are the signs and symptoms of FG syndrome 4? The Human Phenotype Ontology provides the following list of signs and symptoms for FG syndrome 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) Neonatal hypotonia 6/8 Sensorineural hearing impairment 4/6 Feeding difficulties in infancy 5/8 Seizures 5/8 Prominent forehead 3/8 Scoliosis 2/8 Hypertelorism - Intellectual disability - Wide nasal bridge - X-linked 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.