Ahmed062646/NLP_Medora_Datasets huggingface dataset:
Question: What are the symptoms of RHYNS syndrome ?
Answer: What are the signs and symptoms of RHYNS syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for RHYNS 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) Conductive hearing impairment - Deeply set eye - Growth hormone deficiency - Nephronophthisis - Pituitary hypothyroidism - Ptosis - Renal insufficiency - Rod-cone dystrophy - Skeletal dysplasia - 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.
Question: What is (are) Dopa-responsive dystonia ?
Answer: Dopa-responsive dystonia (DRD) is an inherited type of dystonia that typically begins during childhood but may begin in adolescence or adulthood. Depending on the specific type of DRD, specific symptoms can vary. Features can range from mild to severe. In most cases, dystonia begins in the lower limbs and spreads to the upper limbs over time. Symptoms may include unusual limb positioning; a lack of coordination when walking or running; sleep problems; and episodes of depression. Affected people also often develop a group of movement abnormalities called parkinsonism. Although movement difficulties usually worsen with age, they often stabilize around age 30. DRD may be caused by mutations in the GCH1, TH or SPR genes, or the cause may be unknown. Depending on the genetic cause, DRD may be inherited in an autosomal dominant (most commonly) or autosomal recessive manner. This form of dystonia is called 'dopa-responsive' dystonia because the symptoms typically improve during treatment with levodopa and carbidopa.
Question: How to diagnose Dopa-responsive dystonia ?
Answer: How is dopa-responsive dystonia diagnosed? Dopa-responsive dystonia (DRD) is diagnosed based on the signs and symptoms present, results of laboratory tests (sometimes including genetic testing), and response to therapy with levodopa. If DRD is suspected, a therapeutic trial with low doses of levodopa remains the most practical approach to the diagnosis. It is generally agreed that people with childhood-onset dystonia of unknown cause should be treated initially with levodopa. The characteristic symptoms and response to treatment are sufficient to establish the diagnosis for people with the most common form, autosomal dominant DRD. There is only one gene in which mutations are known to cause this form of DRD, but not all people with the disorder are found to have a mutation in the responsible gene. While finding a mutation may provide information about prognosis, it does not alter the treatment. Other types of laboratory tests, such as measuring specific substances or enzymes in the blood or cerebrospinal fluid (CSF), may be useful to support the diagnosis. For tyrosine hydroxylase deficiency, an autosomal recessive genetic cause of DRD, molecular genetic testing has confirmed the presence of mutations in all affected people to date. Specific laboratory tests performed on CSF help support the diagnosis but are not diagnostic on their own. For sepiapterin reductase deficiency, a very rare autosomal recessive form of DRD, there are distinctive findings in CSF and reduced or absent activity of sepiapterin reductase in fibroblasts. Molecular genetic testing can identify mutations in the responsible gene and confirm the diagnosis of this form of DRD. The major conditions that may have a similar presentation to DRD and are part of the differential diagnosis include early-onset parkinsonism, early-onset primary dystonia, and cerebral palsy or spastic paraplegia. People with specific questions about being evaluated for any form of dystonia should speak with a neurologist or other health care provider.
Question: What is (are) Juvenile amyotrophic lateral sclerosis ?
Answer: Juvenile amyotrophic lateral sclerosis (ALS) is a type of motor neuron disease which leads to problems with muscle control and movement. Signs and symptoms of juvenile ALS tend to present by age 25 years or younger. Unlike other types of ALS, juvenile ALS is not rapidly progressive. People with juvenile ALS can have a normal life expectancy. Juvenile ALS is often genetic and may be inherited in an autosomal dominant or autosomal recessive fashion.
Question: What are the symptoms of Juvenile amyotrophic lateral sclerosis ?
Answer: What are the signs and symptoms of juvenile amyotrophic lateral sclerosis? Signs and symptoms of juvenile ALS vary but include slowly to very slowly progressive muscle weakness, increased muscle tone, Babinski reflex, muscle spasm (clonus), exaggerated reflexes, muscle wasting, and muscle twitching. Juvenile ALS usually does not affect thinking or mental processing, nor does it tend to cause sensory dysfunction (e.g., numbness or tingling). As the condition progresses muscle involvement can be severe. Some people with juvenile ALS, eventually experience muscle weakness in the face and throat. Some have experienced emotional liability (involuntary crying or laughing) and/or respiratory weakness.[133]
Question: What causes Juvenile amyotrophic lateral sclerosis ?
Answer: What causes juvenile amyotrophic lateral sclerosis? Juvenile amyotrophic lateral sclerosis (ALS) is often genetic and may be caused by mutations in the ALS2 or SETX genes. In some cases the underlying gene abnormality cannot be determined. Juvenile ALS may be inherited in an autosomal dominant (as in ALS type 4) or autosomal recessive (as in ALS type 2) fashion.
Question: What are the treatments for Juvenile amyotrophic lateral sclerosis ?
Answer: How might juvenile amyotrophic lateral sclerosis be treated? Treatments and therapies are available to relieve symptoms and improve the quality of life of people with juvenile ALS. Medications, such as those that reduce fatigue and ease muscle cramps are available. Physical therapy and special equipment can be helpful. Multidisciplinary teams of health care professionals such as physicians; pharmacists; physical, occupational, and speech therapists; nutritionists; and social workers can help to develop personalized treatment plans. While the Food and Drug Administration (FDA) has approved riluzole (Rilutek) for treatment of ALS, we found limited information regarding its use for juvenile ALS. We recommend that you discuss any questions regarding the risk/benefits of this drug with your healthcare provider.
Question: What are the symptoms of Amaurosis congenita cone-rod type with congenital hypertrichosis ?
Answer: What are the signs and symptoms of Amaurosis congenita cone-rod type with congenital hypertrichosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Amaurosis congenita cone-rod type with congenital hypertrichosis. 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 eyelashes 90% Coarse hair 90% Hypermetropia 90% Nystagmus 90% Optic atrophy 90% Photophobia 90% Synophrys 90% Thick eyebrow 90% Visual impairment 90% Autosomal recessive inheritance - Congenital visual impairment - Hirsutism - Retinal dystrophy - 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.
Question: What are the symptoms of Spinocerebellar degeneration and corneal dystrophy ?
Answer: What are the signs and symptoms of Spinocerebellar degeneration and corneal dystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar degeneration and corneal 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) Cognitive impairment 90% EEG abnormality 90% Hemiplegia/hemiparesis 90% Incoordination 90% Opacification of the corneal stroma 90% Visual impairment 90% Abnormality of movement 50% Hyperlordosis 50% Hypertonia 50% Low-set, posteriorly rotated ears 50% Ptosis 50% Scoliosis 50% Triangular face 50% Abnormality of metabolism/homeostasis - Ataxia - Autosomal recessive inheritance - Corneal dystrophy - Intellectual disability - Severe visual impairment - Spinocerebellar tract degeneration - 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.
Question: What is (are) Usher syndrome, type 1B ?
Answer: Usher syndrome is a genetic condition characterized by hearing loss or deafness, and progressive vision loss due to retinitis pigmentosa. Three major types of Usher syndrome have been described - types I, II, and III. The different types are distinguished by their severity and the age when signs and symptoms appear. All three types are inherited in an autosomal recessive manner, which means both copies of the disease-causing gene in each cell have mutations.
Question: What are the symptoms of Usher syndrome, type 1B ?
Answer: What are the signs and symptoms of Usher syndrome, type 1B? The Human Phenotype Ontology provides the following list of signs and symptoms for Usher syndrome, type 1B. 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 vestibular function - Autosomal recessive inheritance - Heterogeneous - Motor delay - Rod-cone dystrophy - Sensorineural hearing impairment - Undetectable electroretinogram - Visual loss - 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.
Question: Is Usher syndrome, type 1B inherited ?
Answer: How is Usher syndrome inherited? Usher syndrome is inherited in an autosomal recessive manner. This means that a person must have a change (mutation) in both copies of the disease-causing gene in each cell to have Usher syndrome. One mutated copy is typically inherited from each parent, who are each referred to as a carrier. Carriers of an autosomal recessive condition usually do not have any signs or symptoms. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) chance to have the condition, a 50% (1 in 2) chance to be an unaffected carrier like each parent, and a 25% chance to not be a carrier and not be affected.
Question: What is (are) 15q11.2 microdeletion ?
Answer: 15q11.2 microdeletion refers to a chromosome abnormality in which a tiny piece of genetic material on the long arm of chromosome 15 (at a location designated q11.2) is missing (deleted). The features of people with a 15q11.2 microdeletion vary widely. The most common features include developmental, motor, and language delays; behavior and emotional problems; attention deficit disorders; and autism spectrum disorder. Other features may include birth defects and seizures. However, some people have no apparent physical, learning, or behavior problems. A 15q11.2 microdeletion may occur randomly for the first time in an affected person, or it may be inherited from a parent. Treatment depends on the signs and symptoms in each person.
Question: What causes 15q11.2 microdeletion ?
Answer: What causes a 15q11.2 microdeletion? A 15q11.2 microdeletion may occur randomly for the first time in an affected person (a de novo mutation), or it may be inherited from a parent with the microdeletion. A blood test to look at the parents' chromosomes is needed to find out how the microdeletion occurred. When a 15q11.2 microdeletion occurs as a de novo mutation, it is due to a random error - either during the formation of a parent's egg or sperm cell, or very soon after conception (fertilization of the egg). A parent with the microdeletion has a 50% chance with each pregnancy to pass on the microdeletion. The features of 15q11.2 microdeletion occur because the deleted region of the chromosome contains several genes that are important for normal growth and development. It is not yet clear why there is a large range of features and severity among people with a 15q11.2 microdeletion, or why some people are unaffected.
Question: What is (are) Noonan syndrome 1 ?
Answer: Noonan syndrome is a genetic disorder that causes abnormal development of multiple parts of the body. Features of Noonan syndrome may include a distinctive facial appearance, short stature, a broad or webbed neck, congenital heart defects, bleeding problems, skeletal malformations, and developmental delay. Noonan syndrome may be caused by mutations in any one of several genes including the PTPN11, KRAS, RAF1, SOS1, NRAS and BRAF genes. It is sometimes referred to as a specific subtype based on the responsible gene in an affected person. Noonan syndrome is typically inherited in an autosomal dominant manner but many cases are due to a new mutation and are not inherited from an affected parent.
Question: What are the symptoms of Noonan syndrome 1 ?
Answer: What are the signs and symptoms of Noonan syndrome 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Noonan syndrome 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) Intellectual disability 25% Hypogonadism 7.5% Abnormal bleeding - Amegakaryocytic thrombocytopenia - Atria septal defect - Autosomal dominant inheritance - Brachydactyly syndrome - Clinodactyly - Coarctation of aorta - Cryptorchidism - Cubitus valgus - Cystic hygroma - Dental malocclusion - Epicanthus - Failure to thrive in infancy - Heterogeneous - High palate - Hypertelorism - Hypertrophic cardiomyopathy - Kyphoscoliosis - Low posterior hairline - Low-set, posteriorly rotated ears - Lymphedema - Male infertility - Myopia - Neurofibrosarcoma - Patent ductus arteriosus - Pectus excavatum of inferior sternum - Postnatal growth retardation - Ptosis - Pulmonic stenosis - Radial deviation of finger - Reduced factor XII activity - Reduced factor XIII activity - Sensorineural hearing impairment - Shield chest - Short neck - Short stature - Superior pectus carinatum - Synovitis - Triangular face - Ventricular septal defect - Webbed neck - 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.
Question: What are the treatments for Noonan syndrome 1 ?
Answer: How might Noonan syndrome be treated? Management generally focuses on the specific signs and symptoms present in each person. Treatments for the complications of Noonan syndrome (such as cardiovascular abnormalities) are generally standard and do not differ from treatment in the general population. Developmental disabilities are addressed by early intervention programs and individualized education strategies. Treatment for serious bleeding depends upon the specific factor deficiency or platelet abnormality. Growth hormone treatment increases growth velocity. More detailed information about treatment for Noonan syndrome can be viewed on the GeneReviews Web site.
Question: What are the symptoms of Autosomal recessive nonsyndromic congenital nuclear cataract ?
Answer: What are the signs and symptoms of Autosomal recessive nonsyndromic congenital nuclear cataract? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal recessive nonsyndromic congenital nuclear 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) Autosomal recessive inheritance - Cataract - 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.
Question: What is (are) Ehlers-Danlos syndrome ?
Answer: Ehlers-Danlos syndrome (EDS) is a group of inherited connective tissue disorders that is caused by abnormalities in the structure, production, and/or processing of collagen. There are 6 major forms of EDS: hypermobility type, classic type, vascular type, kyphoscoliosis type, arthrochalasia type, and dermatosparaxis type. Although other forms of the condition exist, they are extremely rare and are not well-characterized. The signs and symptoms of EDS vary by type and range from mildly loose joints to life-threatening complications. Features shared by many types include joint hypermobility and soft, velvety skin that is highly elastic (stretchy) and bruises easily. Changes (mutations) in a variety of genes may lead to EDS; however, the underlying genetic cause in some families is unknown. Depending on the subtype, EDS may be inherited in an autosomal dominant or an autosomal recessive manner. There is no specific cure for EDS. The treatment and management is focused on preventing serious complications and relieving associated signs and symptoms.
Question: What causes Ehlers-Danlos syndrome ?
Answer: What causes Ehlers-Danlos syndrome? Ehlers-Danlos syndrome can be caused by changes (mutations) in several different genes (COL5A1, COL5A2, COL1A1, COL3A1, TNXB, PLOD1, COL1A2, and ADAMTS2). However, the underlying genetic cause is unknown in some families. Mutations in these genes usually alter the structure, production, and/or processing of collagen or proteins that interact with collagen. Collagen provides structure and strength to connective tissues throughout the body. A defect in collagen can weaken connective tissues in the skin, bones, blood vessels, and organs resulting in the features of the disorder.
Question: Is Ehlers-Danlos syndrome inherited ?
Answer: Is Ehlers-Danlos syndrome inherited? The inheritance pattern of Ehlers-Danlos syndrome (EDS) varies by subtype. The arthrochalasia, classic, hypermobility, and vascular forms of the disorder usually have an autosomal dominant pattern of inheritance. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene. These cases occur in people with no history of the disorder in their family. A person with one of these subtypes has a 50% chance with each pregnancy of passing along the altered gene to his or her child. The dermatosparaxis and kyphoscoliosis types of EDS are inherited in an autosomal recessive pattern. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers 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.