falan42/medcuad_data huggingface dataset:
Topic: Unverricht-Lundborg disease
Question: What is (are) Unverricht-Lundborg disease ?
Answer: Unverricht-Lundborg disease is an inherited form of progressive myoclonus epilepsy that is characterized by episodes of involuntary muscle jerking or twitching (myoclonus) that increase in frequency and severity over time. Episodes of myoclonus may be brought on by physical exertion, stress, light, or other stimuli. Affected individuals usually begin showing signs and symptoms of the disorder between the ages of 6 and 15. Over time, the myoclonic episodes may become severe enough to interfere with walking and other everyday activities. Other features include seizures involving loss of consciousness, muscle rigidity, and convulsions (tonic-clonic or grand mal seizures). Like the myoclonic episodes, these may increase in frequency over several years but may be controlled with treatment. After several years of progression, the frequency of seizures may stabilize or decrease. Unverricht-Lundborg disease is caused by mutation in the CSTB gene. It is inherited in an autosomal recessive pattern.
(Source: GARD)
Topic: Unverricht-Lundborg disease
Question: What are the symptoms of Unverricht-Lundborg disease ?
Answer: What are the signs and symptoms of Unverricht-Lundborg disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Unverricht-Lundborg disease. 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) Absence seizures - Ataxia - Autosomal recessive inheritance - Dysarthria - Generalized tonic-clonic seizures - Mental deterioration - Myoclonus - 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: Coffin-Siris syndrome
Question: What is (are) Coffin-Siris syndrome ?
Answer: Coffin-Siris syndrome is a genetic condition that causes variable degrees of learning disability, developmental delays, underdeveloped pinky toenails or fingernails, and distinct facial features. It can be caused by a change (mutation) in any of several genes including the ARID1A, ARID1B, SMARCA4, SMARCB1, or SMARCE1 genes. Coffin-Siris syndrome follows an autosomal dominant pattern of inheritance, however it usually occurs for the first time in a family due to a new mutation. Occupational, physical, and/or speech therapy can help affected individuals reach their full potential.
(Source: GARD)
Topic: Coffin-Siris syndrome
Question: What causes Coffin-Siris syndrome ?
Answer: What causes Coffin-Siris syndrome? Coffin-Siris syndrome is caused by a change (mutation) in either the ARID1A, ARID1B, SMARCA4, SMARCB1, or SMARCE1 gene. Exactly how these gene mutations result in the symptoms of Coffin-Siris syndrome is not known, however it is thought that the mutations affect how genetic material is packaged in the cell. Coffin-Siris syndrome is an autosomal dominant condition; as only one gene mutation is needed to cause the syndrome. It usually occurs for the first time in a family due to a new mutation.  In some cases, no genetic mutation can be identified and the cause of Coffin-Siris syndrome in the family remains unknown.
(Source: GARD)
Topic: Coffin-Siris syndrome
Question: How to diagnose Coffin-Siris syndrome ?
Answer: How is Coffin-Siris syndrome diagnosed? Diagnosis of Coffin-Siris syndrome is largely based upon the presence or absence of common signs and symptoms in the individual. While formal diagnostic criteria have not been established, most individuals with a clinical diagnosis of Coffin-Siris syndrome have certain features in common. You can find detailed information on this topic at the following link to GeneReviews. http://www.ncbi.nlm.nih.gov/books/NBK131811/#coffin-siris.Diagnosis Genetic testing may also be used to diagnose or confirm cases of Coffin-Siris syndrome.
(Source: GARD)
Topic: Coffin-Siris syndrome
Question: What are the treatments for Coffin-Siris syndrome ?
Answer: How might Coffin-Siris syndrome be treated? People with Coffin-Siris syndrome may benefit from occupational, physical, and speech therapy. Developmental pediatricians may be helpful in recommending and coordinating therapeutic and educational interventions. Additional specialty care may be needed depending on the symptoms in the individual, such as by gastrointestinal, eye, kidney, heart, and hearing specialists.
(Source: GARD)
Topic: Familial hemiplegic migraine type 2
Question: What is (are) Familial hemiplegic migraine type 2 ?
Answer: Familial hemiplegic migraine (FHM) is a form of migraine headache that runs in families. Migraines usually cause intense, throbbing pain in one area of the head, often accompanied by nausea, vomiting, and extreme sensitivity to light and sound. These recurrent headaches typically begin in childhood or adolescence and may last from a few hours to a few days. People with familial hemiplegic migraine experience an aura that comes before the headache. The most common symptoms associated with an aura are temporary visual changes such as blind spots (scotomas), flashing lights, zig-zagging lines, and double vision. In people with familial hemiplegic migraine, auras are also characterized by temporary numbness or weakness, often affecting one side of the body (hemiparesis). An aura typically develops gradually over a few minutes and lasts about an hour. Researchers have identified three forms of familial hemiplegic migraine known as FHM1, FHM2, and FHM3. Each of the three types is caused by mutations in a different gene.
(Source: GARD)
Topic: Familial hemiplegic migraine type 2
Question: What are the symptoms of Familial hemiplegic migraine type 2 ?
Answer: What are the signs and symptoms of Familial hemiplegic migraine type 2? The symptoms and severity can vary considerably among people with hemiplegic migraine. Signs and symptoms associated with aura may include: Visual disturbance (e.g. blind spots, flashing lights, zigzag pattern, and double vision) Sensory loss (e.g., numbness or paresthesias of the face or an extremity) Difficulty with speech (which usually occur along with right-sided weakness) Motor weakness involves areas affected by sensory symptoms and varies from mild clumsiness to complete deficit. Affected people may also experience neurologic symptoms such as confusion, drowsiness, impaired consciousness, coma, psychosis, and/or memory loss. Neurologic symptoms can last for hours to days. Attention and memory loss can last weeks to months. However, permanent motor, sensory, language, or visual symptoms are extremely rare. The Human Phenotype Ontology provides the following list of signs and symptoms for Familial hemiplegic migraine type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of movement 90% Hemiplegia/hemiparesis 90% Incoordination 50% Nystagmus 50% Abnormality of retinal pigmentation 7.5% EEG abnormality 7.5% Neurological speech impairment 7.5% Sensorineural hearing impairment 7.5% Aphasia - Apraxia - Autosomal dominant inheritance - Blurred vision - Coma - Confusion - Diplopia - Drowsiness - Dysarthria - Dysphasia - Episodic ataxia - Fever - Hemiparesis - Hemiplegia - Incomplete penetrance - Intellectual disability - Migraine with aura - Seizures - Transient unilateral blurring of vision - Vertigo - 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: Familial hemiplegic migraine type 2
Question: What are the treatments for Familial hemiplegic migraine type 2 ?
Answer: How might hemiplegic migraine be treated? Treatment of hemiplegic migraine varies depending on severity and which symptoms are most problematic for the patient. In general, treatments aim to manage symptoms. Drugs that are effective in the prevention of common migraines may be used in hemiplegic migraine. Prophylactic management is applied to patients with frequent, long lasting, or severe attacks. Examples of migraine drugs that have been tried with variable success in people with hemiplegic migraine, include oral verapamil, acetazolamide, lamotrigine. There are a few articles describing the use of nasal administration of ketamine, intravenous verapamil, and triptans for treatment of aura in people with hemiplegic migraine. Use of triptans in hemiplegic migraine is controversial and may be contraindicated in people with severe attacks. For further information on these and other treatments, we recommend that you speak with your healthcare provider.
(Source: GARD)
Topic: Mental retardation syndrome, Belgian type
Question: What are the symptoms of Mental retardation syndrome, Belgian type ?
Answer: What are the signs and symptoms of Mental retardation syndrome, Belgian type? The Human Phenotype Ontology provides the following list of signs and symptoms for Mental retardation syndrome, Belgian 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) Abnormal nasal morphology 90% Abnormality of the testis 90% Cognitive impairment 90% Deeply set eye 90% Eunuchoid habitus 90% Long face 90% Long thorax 90% Mandibular prognathia 90% Narrow chest 90% Narrow nasal bridge 90% Type I diabetes mellitus 90% Muscular hypotonia 50% Seizures 50% Skeletal muscle atrophy 50% Autosomal recessive inheritance - Cleft ala nasi - Diabetes mellitus - Hypergonadotropic hypogonadism - Intellectual disability, moderate - Wide nose - 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: Lujan syndrome
Question: What is (are) Lujan syndrome ?
Answer: Lujan syndrome is a condition characterized by intellectual disability, behavioral problems, and poor muscle tone (hypotonia). Affected people also tend to have characteristic physical features such as a tall and thin body; a large head (macrocephaly); and a thin face with distinctive facial features (prominent top of the nose, short space between the nose and the upper lip, narrow roof of the mouth, crowded teeth and a small chin). Most of the cases occur in males. Lujan syndrome is caused by changes (mutations) in the MED12 gene and is inherited in an X-linked manner. Treatment is based on the signs and symptoms present in each person and may include special education; physical therapy, occupational therapy, and speech therapy for developmental delays; and medications to control seizures.
(Source: GARD)
Topic: Lujan syndrome
Question: What are the symptoms of Lujan syndrome ?
Answer: What are the signs and symptoms of Lujan syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Lujan 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 palate 90% Abnormality of the voice 90% Cognitive impairment 90% Disproportionate tall stature 90% High forehead 90% Macrocephaly 90% Muscular hypotonia 90% Neurological speech impairment 90% Scoliosis 90% Aplasia/Hypoplasia of the corpus callosum 50% Arachnodactyly 50% Atria septal defect 50% Attention deficit hyperactivity disorder 50% Hypoplasia of the zygomatic bone 50% Joint hypermobility 50% Macroorchidism 50% Narrow face 50% Pectus excavatum 50% Prominent nasal bridge 50% Short philtrum 50% Abnormality of calvarial morphology 7.5% Abnormality of the pinna 7.5% Abnormality of the teeth 7.5% Brachydactyly syndrome 7.5% Camptodactyly of finger 7.5% Hallucinations 7.5% Low-set, posteriorly rotated ears 7.5% Seizures 7.5% Abnormality of the genitourinary system - Abnormality of the rib cage - Abnormally folded helix - Agenesis of corpus callosum - Aggressive behavior - Ascending aortic aneurysm - Autism - Broad thumb - Deep philtrum - Dental crowding - Emotional lability - Flexion contracture - Frontal bossing - Generalized hypotonia - High palate - Hyperactivity - Hypoplasia of the maxilla - Impaired social interactions - Intellectual disability - Joint laxity - Long face - Long nose - Low frustration tolerance - Low-set ears - Narrow nasal bridge - Nasal speech - Obsessive-compulsive behavior - Open mouth - Prominent forehead - Psychosis - Ventricular septal defect - 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: Charcot-Marie-Tooth disease type 1C
Question: What are the symptoms of Charcot-Marie-Tooth disease type 1C ?
Answer: What are the signs and symptoms of Charcot-Marie-Tooth disease type 1C? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 1C. 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 - Decreased motor nerve conduction velocity - Distal amyotrophy - Distal muscle weakness - Distal sensory impairment - Hypertrophic nerve changes - 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: Polycystic kidney disease
Question: What is (are) Polycystic kidney disease ?
Answer: Polycystic kidney disease refers to a group of inherited kidney disorders characterized by the presence of multiple cysts in both kidneys. Normal kidney tissue is replaced by fluid-filled sacs that interfere with the their ability to filter waste products from the blood. The growth of cysts causes the kidneys to become enlarged and can lead to kidney failure. Cysts may also develop in other organs, particularly the liver. However, signs and symptom severity can vary greatly from person to person. Treatment is tailored to the individual based upon their signs and symptoms. The two major forms of polycystic kidney disease are distinguished by the usual age of onset and their pattern of inheritance: (1) Autosomal dominant polycystic kidney disease (ADPKD) is the most common form that usually causes symptoms between the ages of 30 and 40; but they can begin earlier, even in childhood. ADPKD can be further divided into type 1 and type 2, depending on the underlying genetic cause. (2) Autosomal recessive polycystic kidney disease (ARPKD) is a rare form that usually causes symptoms in infancy and early childhood and is often lethal early in life. Some people with ARPKD do not develop symptoms until later in childhood or even adulthood.
(Source: GARD)
Topic: Polycystic kidney disease
Question: What are the symptoms of Polycystic kidney disease ?
Answer: What are the signs and symptoms of Polycystic kidney disease? Signs and symptoms vary greatly from person to person. But affected individuals typically develop multiple cysts in both kidneys, which impair their ability to filter waste products from the blood. Later in the disease, the cysts cause the kidneys to become enlarged and can lead to kidney failure. Cysts may also develop in other organs, particularly the liver. Frequent complications of polycystic kidney disease include dangerously high blood pressure (hypertension), severe pain in the back or sides, blood in the urine (hematuria), recurrent urinary tract infections, kidney stones, and heart valve abnormalities. People with this condition also have an increased risk an aortic aneurysm in the brain (an abnormal bulging of the large blood vessel at the base of the brain). Aneurysms can be life-threatening if they tear or rupture. The Human Phenotype Ontology provides the following list of signs and symptoms for Polycystic kidney disease. 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) Polycystic kidney dysplasia 90% Anemia 50% Cystic liver disease 50% Hematuria 50% Hypertension 50% Nephrolithiasis 50% Proteinuria 50% Renal insufficiency 50% Abnormality of prenatal development or birth 7.5% Abnormality of the pancreas 7.5% Abnormality of the respiratory system 7.5% Aneurysm 7.5% Dilatation of the ascending aorta 7.5% Hydrocephalus 7.5% Recurrent fractures 7.5% Reduced bone mineral density 7.5% Sarcoma 7.5% Autosomal dominant inheritance - Cerebral aneurysm - Colonic diverticula - Hepatic cysts - Heterogeneous - Increased prevalence of valvular disease - 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: Microcephaly
Question: What is (are) Microcephaly ?
Answer: Microcephaly is a rare neurological condition in which a person's head is significantly smaller than expected based on standardized charts. Some cases of microcephaly are detected at birth, while others develop in the first few years of life. Some children with microcephaly have normal intelligence and development. However, microcephaly can be associated with seizures; developmental delay; intellectual disability; problems with movement and balance; feeding difficulties; hearing loss; and/or vision problems depending on the severity of the condition. Because the growth of the skull is determined by brain growth, the condition often occurs when the brain fails to grow at a normal rate. This may be caused by a variety of genetic abnormalities; exposure to certain viruses (i.e. rubella, toxoplasmosis, and cytomegalovirus), drugs, alcohol, or toxic chemicals during pregnancy; untreated maternal PKU during pregnancy; and/or severe malnutrition during pregnancy. Although there is no treatment for microcephaly, early intervention may help enhance development and improve quality of life.
(Source: GARD)