umarjan11/Medical-qna huggingface dataset:
Question: What are the symptoms of Metachromatic leukodystrophy ?

Answer: What are the signs and symptoms of Metachromatic leukodystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Metachromatic leukodystrophy. 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) Behavioral abnormality 90% Cognitive impairment 90% Decreased nerve conduction velocity 90% Developmental regression 90% Gait disturbance 90% Genu recurvatum 90% Incoordination 90% Muscle weakness 90% Neurological speech impairment 90% Peripheral neuropathy 90% Reduced consciousness/confusion 90% Seizures 90% Amaurosis fugax 50% Hyperreflexia 50% Hypertonia 50% Limitation of joint mobility 50% Muscular hypotonia 50% Nystagmus 50% Optic atrophy 50% Aganglionic megacolon 7.5% Ataxia - Autosomal recessive inheritance - Babinski sign - Bulbar palsy - Cholecystitis - Chorea - Delusions - Dysarthria - Dystonia - EMG: neuropathic changes - Emotional lability - Gallbladder dysfunction - Hallucinations - Hyporeflexia - Increased CSF protein - Intellectual disability - Loss of speech - Mental deterioration - Peripheral demyelination - Progressive peripheral neuropathy - Spastic tetraplegia - Tetraplegia - Urinary incontinence - 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 Autosomal dominant nocturnal frontal lobe epilepsy ?

Answer: What are the signs and symptoms of Autosomal dominant nocturnal frontal lobe epilepsy? The seizures that occur in people with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) usually occur at night while sleeping, but some affected people also have seizures during the day. The seizures tend to occur in clusters, with each one lasting from a few seconds to a few minutes. In some people, seizures are mild and only cause a person to wake from sleep. In others, severe episodes can cause sudden, dramatic muscle spasms, wandering around, and/or crying out or making other sounds. Episodes of seizures tend to become less frequent and more mild as an affected person ages. Some people with ADNFLE experience aura, which may cause neurological symptoms such as tingling, shivering, a sense of fear, dizziness, and/or a feeling of falling or being pushed. Feelings of breathlessness, hyperventilation, and choking have also been reported. Most people with ADNFLE are intellectually normal. Psychiatric disorders, behavioral problems and intellectual disability have been described in some people with ADNFLE, but it is unclear if these features are directly related to the condition. The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal dominant nocturnal frontal lobe epilepsy. 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 5% Autosomal dominant inheritance - Behavioral abnormality - Focal seizures - Incomplete penetrance - Juvenile onset - Seizures - 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 Hereditary fructose intolerance ?

Answer: What are the signs and symptoms of Hereditary fructose intolerance? The symptoms of HFI include: Poor feeding as a baby Irritability Increased or prolonged neonatal jaundice Vomiting Convulsions Excessive sleepiness Intolerance for fruits Avoidance of fruits and fructose/sucrose-containing foods Doing well after eating foods without fructose/sucrose The early symptoms of fructose intolerance may resemble those of galactosemia: irritability, jaundice, vomiting, convulsions and an enlarged liver and spleen. Later problems relate more to liver disease. The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary fructose intolerance. 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) Abdominal pain - Autosomal recessive inheritance - Bicarbonaturia - Cirrhosis - Coma - Elevated hepatic transaminases - Failure to thrive - Fructose intolerance - Gastrointestinal hemorrhage - Glycosuria - Hepatic steatosis - Hepatomegaly - Hyperbilirubinemia - Hyperphosphaturia - Hyperuricemia - Hyperuricosuria - Hypoglycemia - Hypophosphatemia - Intellectual disability - Jaundice - Lactic acidosis - Lethargy - Malnutrition - Metabolic acidosis - Nausea - Proximal renal tubular acidosis - Proximal tubulopathy - Seizures - Transient aminoaciduria - Vomiting - 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: How to diagnose Thalassemias ?

Answer: Doctors diagnose thalassemias using blood tests, including a complete blood count (CBC) and special hemoglobin tests.
                
A CBC measures the amount of hemoglobin and the different kinds of blood cells, such as red blood cells, in a sample of blood. People who have thalassemias have fewer healthy red blood cells and less hemoglobin than normal in their blood. People who have alpha or beta thalassemia trait may have red blood cells that are smaller than normal.
                
Hemoglobin tests measure the types of hemoglobin in a blood sample. People who have thalassemias have problems with the alpha or beta globin protein chains of hemoglobin.
                
Moderate and severe thalassemias usually are diagnosed in early childhood. This is because signs and symptoms, including severe anemia, often occur within the first 2years of life.
                
People who have milder forms of thalassemia might be diagnosed after a routine blood test shows they have anemia. Doctors might suspect thalassemia if a person has anemia and is a member of an ethnic group that's at increased risk for thalassemias. (For more information, go to "Who Is at Risk for Thalassemias?")
                
Doctors also test the amount of iron in the blood to find out whether the anemia is due to iron deficiency or thalassemia. Iron-deficiency anemia occurs if the body doesn't have enough iron to make hemoglobin. The anemia in thalassemia occurs because of a problem with either the alpha globin or beta globin chains of hemoglobin, not because of a lack of iron.
                
Because thalassemias are passed from parents to children through genes, family genetic studies also can help diagnose the disorder. These studies involve taking a family medical history and doing blood tests on family members. The tests will show whether any family members have missing or altered hemoglobin genes.
                
If you know of family members who have thalassemias and you're thinking of having children, consider talking with your doctor and a genetic counselor. They can help determine your risk for passing the disorder to your children.
                
If you're expecting a baby and you and your partner are thalassemia carriers, you may want to consider prenatal testing.
                
Prenatal testing involves taking a sample of amniotic fluid or tissue from the placenta. (Amniotic fluid is the fluid in the sac surrounding a growing embryo. The placenta is the organ that attaches the umbilical cord to the mother's womb.) Tests done on the fluid or tissue can show whether your baby has thalassemia and how severe it might be.
Question: What is (are) CHARGE syndrome ?

Answer: CHARGE syndrome is a disorder that affects many areas of the body. CHARGE stands for coloboma, heart defect, atresia choanae (also known as choanal atresia), retarded growth and development, genital abnormality, and ear abnormality. The pattern of malformations varies among individuals with this disorder, and infants often have multiple life-threatening medical conditions. The diagnosis of CHARGE syndrome is based on a combination of major and minor characteristics.  The major characteristics of CHARGE syndrome are more specific to this disorder than are the minor characteristics. Many individuals with CHARGE syndrome have a hole in one of the structures of the eye (coloboma), which forms during early development. A coloboma may be present in one or both eyes and can affect a person's vision, depending on its size and location. Some people also have small eyes (microphthalmia). One or both nasal passages may be narrowed (choanal stenosis) or completely blocked (choanal atresia). Individuals with CHARGE syndrome frequently have cranial nerve abnormalities. The cranial nerves emerge directly from the brain and extend to various areas of the head and neck, controlling muscle movement and transmitting sensory information. Abnormal function of certain cranial nerves can cause swallowing problems, facial paralysis, a sense of smell that is diminished (hyposmia) or completely absent (anosmia), and mild to profound hearing loss. People with CHARGE syndrome also typically have middle and inner ear abnormalities and unusually shaped ears.  The minor characteristics of CHARGE syndrome are not specific to this disorder; they are frequently present in people without CHARGE syndrome. The minor characteristics include heart defects, slow growth starting in late infancy, developmental delay, and an opening in the lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate). Individuals frequently have hypogonadotropic hypogonadism, which affects the production of hormones that direct sexual development. Males are often born with an unusually small penis (micropenis) and undescended testes (cryptorchidism). External genitalia abnormalities are seen less often in females with CHARGE syndrome. Puberty can be incomplete or delayed. Individuals may have a tracheoesophageal fistula, which is an abnormal connection (fistula) between the esophagus and the trachea. People with CHARGE syndrome also have distinctive facial features, including a square-shaped face and difference in the appearance between the right and left sides of the face (facial asymmetry). Individuals have a wide range of cognitive function, from normal intelligence to major learning disabilities with absent speech and poor communication.
Question: What are the genetic changes related to vitamin D-dependent rickets ?

Answer: The two types of vitamin D-dependent rickets have different genetic causes: CYP27B1 gene mutations cause VDDR1, and VDR gene mutations cause VDDR2. Both genes are involved in the body's response to vitamin D, an important vitamin that can be can be acquired from foods in the diet or made by the body with the help of sunlight. Vitamin D helps maintain the proper balance of several minerals in the body, including calcium and phosphate. One of vitamin D's major roles is to control the absorption of calcium and phosphate from the intestines into the bloodstream.  The CYP27B1 gene provides instructions for making an enzyme called 1-alpha-hydroxylase (1-hydroxylase). This enzyme carries out the final reaction to convert vitamin D to its active form, calcitriol. Once converted, calcitriol attaches (binds) to a protein called vitamin D receptor (VDR), which is produced from the VDR gene. The resulting calcitriol-VDR complex then binds to particular regions of DNA and regulates the activity of vitamin D-responsive genes. By turning these genes on or off, VDR helps control the absorption of calcium and phosphate and other processes that regulate calcium levels in the body. VDR is also involved in hair growth through a process that does not require calcitriol binding.  Mutations in either of these genes prevent the body from responding to vitamin D. CYP27B1 gene mutations reduce or eliminate 1-hydroxylase activity, which means vitamin D is not converted to its active form. The absence of calcitriol means vitamin D-responsive genes are not turned on (activated). VDR gene mutations alter the vitamin D receptor so that it cannot regulate gene activity, regardless of the presence of calcitriol in the body; often the altered receptor cannot interact with calcitriol or with DNA.  Without activation of vitamin D-responsive genes, absorption of calcium and phosphate falls, leading to hypocalcemia and hypophosphatemia. The lack of calcium and phosphate slows the deposition of these minerals in developing bones (bone mineralization), which leads to soft, weak bones and other features of vitamin D-dependent rickets. Low levels of calcium stimulate production of PTH, resulting in secondary hyperparathyroidism; hypocalcemia can also cause muscle weakness and seizures in individuals with vitamin D-dependent rickets. Certain abnormalities in the VDR protein also impair hair growth, causing alopecia in some people with VDDR2.
Question: What is (are) Usher syndrome ?

Answer: Usher syndrome is a condition characterized by hearing loss or deafness and progressive vision loss. The loss of vision is caused by an eye disease called retinitis pigmentosa (RP), which affects the layer of light-sensitive tissue at the back of the eye (the retina). Vision loss occurs as the light-sensing cells of the retina gradually deteriorate. Night vision loss begins first, followed by blind spots that develop in the side (peripheral) vision. Over time, these blind spots enlarge and merge to produce tunnel vision. In some cases of Usher syndrome, vision is further impaired by clouding of the lens of the eye (cataracts). Many people with retinitis pigmentosa retain some central vision throughout their lives, however.  Researchers have identified three major types of Usher syndrome, designated as types I, II, and III. These types are distinguished by their severity and the age when signs and symptoms appear. Type I is further divided into seven distinct subtypes, designated as types IA through IG. Usher syndrome type II has at least three described subtypes, designated as types IIA, IIB, and IIC.  Individuals with Usher syndrome type I are typically born completely deaf or lose most of their hearing within the first year of life. Progressive vision loss caused by retinitis pigmentosa becomes apparent in childhood. This type of Usher syndrome also includes problems with the inner ear that affect balance. As a result, children with the condition begin sitting independently and walking later than usual.  Usher syndrome type II is characterized by hearing loss from birth and progressive vision loss that begins in adolescence or adulthood. The hearing loss associated with this form of Usher syndrome ranges from mild to severe and mainly affects high tones. Affected children have problems hearing high, soft speech sounds, such as those of the letters d and t. The degree of hearing loss varies within and among families with this condition. Unlike other forms of Usher syndrome, people with type II do not have difficulties with balance caused by inner ear problems.  People with Usher syndrome type III experience progressive hearing loss and vision loss beginning in the first few decades of life. Unlike the other forms of Usher syndrome, infants with Usher syndrome type III are usually born with normal hearing. Hearing loss typically begins during late childhood or adolescence, after the development of speech, and progresses over time. By middle age, most affected individuals are profoundly deaf. Vision loss caused by retinitis pigmentosa also develops in late childhood or adolescence. People with Usher syndrome type III may also experience difficulties with balance due to inner ear problems. These problems vary among affected individuals, however.
Question: How to diagnose Peripheral Arterial Disease (P.A.D.) ?

Answer: There are several tests used to diagnose P.A.D. These include - an ankle-brachial index (ABI). This test compares blood pressure in your ankle to blood pressure in your arm. It shows how well blood is flowing in your limbs.  - a Doppler ultrasound. This test uses sound waves to show whether a blood vessel is blocked. A blood pressure cuff and special device measure blood flow in the veins and arteries of the limbs. A Doppler ultrasound can help find out how where P.A.D. is.   - a treadmill test. This test shows if you have any problems during normal walking, how severe your symptoms are, and what level of exercise brings them on.  - a magnetic resonance angiogram (MRA). This test uses magnetic and radio waves to take pictures of your blood vessels. An MRA can find the location of a blocked blood vessel and show how severe the blockage is.   - an arteriogram. This test is used to find the exact location of a blocked artery. Dye is injected through a needle or catheter (thin tube) into an artery, then an X-ray is taken. The pictures from the X-ray can show the location, type, and extent of the blockage in the artery.   - blood tests. These tests check for P.A.D. risk factors such as diabetes and high blood cholesterol levels.  an ankle-brachial index (ABI). This test compares blood pressure in your ankle to blood pressure in your arm. It shows how well blood is flowing in your limbs. a Doppler ultrasound. This test uses sound waves to show whether a blood vessel is blocked. A blood pressure cuff and special device measure blood flow in the veins and arteries of the limbs. A Doppler ultrasound can help find out how where P.A.D. is. a treadmill test. This test shows if you have any problems during normal walking, how severe your symptoms are, and what level of exercise brings them on. a magnetic resonance angiogram (MRA). This test uses magnetic and radio waves to take pictures of your blood vessels. An MRA can find the location of a blocked blood vessel and show how severe the blockage is. an arteriogram. This test is used to find the exact location of a blocked artery. Dye is injected through a needle or catheter (thin tube) into an artery, then an X-ray is taken. The pictures from the X-ray can show the location, type, and extent of the blockage in the artery. blood tests. These tests check for P.A.D. risk factors such as diabetes and high blood cholesterol levels.
Question: What are the symptoms of Erdheim-Chester disease ?

Answer: What are the signs and symptoms of Erdheim-Chester disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Erdheim-Chester 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) Abnormality of epiphysis morphology 90% Abnormality of temperature regulation 90% Abnormality of the genital system 90% Abnormality of the metaphyses 90% Bone pain 90% Diabetes insipidus 90% Hyperhidrosis 90% Increased bone mineral density 90% Multiple lipomas 90% Osteolysis 90% Osteomyelitis 90% Proptosis 90% Weight loss 90% Abdominal pain 50% Abnormality of the aortic valve 50% Joint swelling 50% Abnormality of the pericardium 7.5% Abnormality of the pleura 7.5% Anemia 7.5% Aplasia/Hypoplasia of the cerebellum 7.5% Aseptic necrosis 7.5% Congestive heart failure 7.5% Hyperreflexia 7.5% Incoordination 7.5% Nausea and vomiting 7.5% Neurological speech impairment 7.5% Nystagmus 7.5% Ptosis 7.5% Pulmonary fibrosis 7.5% Renal insufficiency 7.5% Respiratory insufficiency 7.5% Skin rash 7.5% Visual impairment 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.