randomani/MedicalQnA-llama2 huggingface dataset:
This is a medical question of type : information 
 What is (are) myofibrillar myopathy ? 
 Myofibrillar myopathy is part of a group of disorders called muscular dystrophies that affect muscle function and cause weakness. Myofibrillar myopathy primarily affects skeletal muscles, which are muscles that the body uses for movement. In some cases, the heart (cardiac) muscle is also affected.  The signs and symptoms of myofibrillar myopathy vary widely among affected individuals, typically depending on the condition's genetic cause. Most people with this disorder begin to develop muscle weakness (myopathy) in mid-adulthood. However, features of this condition can appear anytime between infancy and late adulthood. Muscle weakness most often begins in the hands and feet (distal muscles), but some people first experience weakness in the muscles near the center of the body (proximal muscles). Other affected individuals develop muscle weakness throughout their body. Facial muscle weakness can cause swallowing and speech difficulties. Muscle weakness worsens over time.  Other signs and symptoms of myofibrillar myopathy can include a weakened heart muscle (cardiomyopathy), muscle pain (myalgia), loss of sensation and weakness in the limbs (peripheral neuropathy), and respiratory failure. Individuals with this condition may have skeletal problems including joint stiffness (contractures) and abnormal side-to-side curvature of the spine (scoliosis). Rarely, people with this condition develop clouding of the lens of the eyes (cataracts).
This is a medical question of type : frequency 
 How many people are affected by myofibrillar myopathy ? 
 The prevalence of myofibrillar myopathy is unknown.
This is a medical question of type : genetic changes 
 What are the genetic changes related to myofibrillar myopathy ? 
 Mutations in several genes can cause myofibrillar myopathy. These genes provide instructions for making proteins that play important roles in muscle fibers. Within muscle fibers, these proteins are involved in the assembly of structures called sarcomeres. Sarcomeres are necessary for muscles to tense (contract). The proteins associated with myofibrillar myopathy are normally active on rod-like structures within the sarcomere called Z-discs. Z-discs link neighboring sarcomeres together to form myofibrils, the basic unit of muscle fibers. The linking of sarcomeres and formation of myofibrils provide strength for muscle fibers during repeated muscle contraction and relaxation.  Gene mutations that cause myofibrillar myopathy disrupt the function of skeletal and cardiac muscle. Various muscle proteins form clumps (aggregates) in the muscle fibers of affected individuals. The aggregates prevent these proteins from functioning normally, which reduces linking between neighboring sarcomeres. As a result, muscle fiber strength is diminished.  At least six genes have been associated with myofibrillar myopathy. Mutations in these six genes account for approximately half of all cases of this condition. Mutations in the DES, MYOT, and LDB3 genes are responsible for the majority of cases of myofibrillar myopathy when the genetic cause is known.
This is a medical question of type : inheritance 
 Is myofibrillar myopathy inherited ? 
 This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
This is a medical question of type : treatment 
 What are the treatments for myofibrillar myopathy ? 
 These resources address the diagnosis or management of myofibrillar myopathy:  - Gene Review: Gene Review: Myofibrillar Myopathy  - Genetic Testing Registry: Alpha-B crystallinopathy  - Genetic Testing Registry: Myofibrillar myopathy  - Genetic Testing Registry: Myofibrillar myopathy 1  - Genetic Testing Registry: Myofibrillar myopathy, BAG3-related  - Genetic Testing Registry: Myofibrillar myopathy, ZASP-related  - Genetic Testing Registry: Myofibrillar myopathy, filamin C-related  - Genetic Testing Registry: Myotilinopathy   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care
This is a medical question of type : information 
 What is (are) Rotor syndrome ? 
 Rotor syndrome is a relatively mild condition characterized by elevated levels of a substance called bilirubin in the blood (hyperbilirubinemia). Bilirubin is produced when red blood cells are broken down. It has an orange-yellow tint, and buildup of this substance can cause yellowing of the skin or whites of the eyes (jaundice). In people with Rotor syndrome, jaundice is usually evident shortly after birth or in childhood and may come and go; yellowing of the whites of the eyes (also called conjunctival icterus) is often the only symptom.  There are two forms of bilirubin in the body: a toxic form called unconjugated bilirubin and a nontoxic form called conjugated bilirubin. People with Rotor syndrome have a buildup of both unconjugated and conjugated bilirubin in their blood, but the majority is conjugated.
This is a medical question of type : frequency 
 How many people are affected by Rotor syndrome ? 
 Rotor syndrome is a rare condition, although its prevalence is unknown.
This is a medical question of type : genetic changes 
 What are the genetic changes related to Rotor syndrome ? 
 The SLCO1B1 and SLCO1B3 genes are involved in Rotor syndrome. Mutations in both genes are required for the condition to occur. The SLCO1B1 and SLCO1B3 genes provide instructions for making similar proteins, called organic anion transporting polypeptide 1B1 (OATP1B1) and organic anion transporting polypeptide 1B3 (OATP1B3), respectively. Both proteins are found in liver cells; they transport bilirubin and other compounds from the blood into the liver so that they can be cleared from the body. In the liver, bilirubin is dissolved in a digestive fluid called bile and then excreted from the body.  The SLCO1B1 and SLCO1B3 gene mutations that cause Rotor syndrome lead to abnormally short, nonfunctional OATP1B1 and OATP1B3 proteins or an absence of these proteins. Without the function of either transport protein, bilirubin is less efficiently taken up by the liver and removed from the body. The buildup of this substance leads to jaundice in people with Rotor syndrome.
This is a medical question of type : inheritance 
 Is Rotor syndrome inherited ? 
 This condition is inherited in an autosomal recessive pattern. In autosomal recessive inheritance, both copies of a gene in each cell have mutations. In Rotor syndrome, an affected individual must have mutations in both the SLCO1B1 and the SLCO1B3 gene, so both copies of the two genes are altered. The parents of an individual with this condition each carry one altered copy of both genes, but they do not show signs and symptoms of the condition.
This is a medical question of type : treatment 
 What are the treatments for Rotor syndrome ? 
 These resources address the diagnosis or management of Rotor syndrome:  - Centers for Disease Control and Prevention: Facts About Jaundice and Kernicterus  - Gene Review: Gene Review: Rotor Syndrome  - Genetic Testing Registry: Rotor syndrome   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care
This is a medical question of type : information 
 What is (are) Bart-Pumphrey syndrome ? 
 Bart-Pumphrey syndrome is characterized by nail and skin abnormalities and hearing loss.  People with Bart-Pumphrey syndrome typically have a white discoloration of the nails (leukonychia); the nails may also be thick and crumbly. Affected individuals often have wart-like (verrucous) skin growths called knuckle pads on the knuckles of the fingers and toes. They may also have thickening of the skin on the palms of the hands and soles of the feet (palmoplantar keratoderma). The skin abnormalities generally become noticeable during childhood.  The hearing loss associated with Bart-Pumphrey syndrome ranges from moderate to profound and is typically present from birth (congenital).  The signs and symptoms of this disorder may vary even within the same family; while almost all affected individuals have hearing loss, they may have different combinations of the other associated features.
This is a medical question of type : frequency 
 How many people are affected by Bart-Pumphrey syndrome ? 
 Bart-Pumphrey syndrome is a rare disorder; its exact prevalence is unknown. Only a few affected families and individual cases have been identified.
This is a medical question of type : genetic changes 
 What are the genetic changes related to Bart-Pumphrey syndrome ? 
 Bart-Pumphrey syndrome is caused by mutations in the GJB2 gene. This gene provides instructions for making a protein called gap junction beta 2, more commonly known as connexin 26. Connexin 26 is a member of the connexin protein family. Connexin proteins form channels called gap junctions that permit the transport of nutrients, charged atoms (ions), and signaling molecules between neighboring cells that are in contact with each other. Gap junctions made with connexin 26 transport potassium ions and certain small molecules.  Connexin 26 is found in cells throughout the body, including the inner ear and the skin. In the inner ear, channels made from connexin 26 are found in a snail-shaped structure called the cochlea. These channels may help to maintain the proper level of potassium ions required for the conversion of sound waves to electrical nerve impulses. This conversion is essential for normal hearing. In addition, connexin 26 may be involved in the maturation of certain cells in the cochlea. Connexin 26 also plays a role in the growth, maturation, and stability of the outermost layer of skin (the epidermis).  The GJB2 gene mutations that cause Bart-Pumphrey syndrome change single protein building blocks (amino acids) in the connexin 26 protein. The altered protein probably disrupts the function of normal connexin 26 in cells, and may interfere with the function of other connexin proteins. This disruption could affect skin growth and also impair hearing by disturbing the conversion of sound waves to nerve impulses.
This is a medical question of type : inheritance 
 Is Bart-Pumphrey syndrome inherited ? 
 This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.
This is a medical question of type : treatment 
 What are the treatments for Bart-Pumphrey syndrome ? 
 These resources address the diagnosis or management of Bart-Pumphrey syndrome:  - Foundation for Ichthyosis and Related Skin Types: Palmoplantar Keratoderma  - Genetic Testing Registry: Knuckle pads, deafness AND leukonychia syndrome   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care
This is a medical question of type : information 
 What is (are) Amish lethal microcephaly ? 
 Amish lethal microcephaly is a disorder in which infants are born with a very small head and underdeveloped brain.  Infants with Amish lethal microcephaly have a sloping forehead and an extremely small head size. They may also have an unusually small lower jaw and chin (micrognathia) and an enlarged liver (hepatomegaly).  Affected infants may have seizures and difficulty maintaining their body temperature. Often they become very irritable starting in the second or third month of life. A compound called alpha-ketoglutaric acid can be detected in their urine (alpha-ketoglutaric aciduria), and during episodes of viral illness they tend to develop elevated levels of acid in the blood and tissues (metabolic acidosis). Infants with this disorder typically feed adequately but do not develop skills such as purposeful movement or the ability to track faces and sounds. Affected infants live only about six months.
This is a medical question of type : frequency 
 How many people are affected by Amish lethal microcephaly ? 
 Amish lethal microcephaly occurs in approximately 1 in 500 newborns in the Old Order Amish population of Pennsylvania. It has not been found outside this population.
This is a medical question of type : genetic changes 
 What are the genetic changes related to Amish lethal microcephaly ? 
 Mutations in the SLC25A19 gene cause Amish lethal microcephaly.  The SLC25A19 gene provides instructions for producing a protein that is a member of the solute carrier (SLC) family of proteins. Proteins in the SLC family transport various compounds across the membranes surrounding the cell and its component parts. The protein produced from the SLC25A19 gene transports a molecule called thiamine pyrophosphate into the mitochondria, the energy-producing centers of cells. This compound is involved in the activity of a group of mitochondrial enzymes called the dehydrogenase complexes, one of which is the alpha-ketoglutarate dehydrogenase complex. The transport of thiamine pyrophosphate into the mitochondria is believed to be important in brain development.  All known individuals with Amish lethal microcephaly have a mutation in which the protein building block (amino acid) alanine is substituted for the amino acid glycine at position 177 of the SLC25A19 protein, written as Gly177Ala or G177A. Researchers believe that this mutation interferes with the transport of thiamine pyrophosphate into the mitochondria and the activity of the alpha-ketoglutarate dehydrogenase complex, resulting in the abnormal brain development and alpha-ketoglutaric aciduria seen in Amish lethal microcephaly.
This is a medical question of type : inheritance 
 Is Amish lethal microcephaly inherited ? 
 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
This is a medical question of type : treatment 
 What are the treatments for Amish lethal microcephaly ? 
 These resources address the diagnosis or management of Amish lethal microcephaly:  - Gene Review: Gene Review: Amish Lethal Microcephaly  - Genetic Testing Registry: Amish lethal microcephaly  - MedlinePlus Encyclopedia: Microcephaly   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care
This is a medical question of type : information 
 What is (are) Miyoshi myopathy ? 
 Miyoshi myopathy is a muscle disorder that primarily affects muscles away from the center of the body (distal muscles), such as those in the legs. During early to mid-adulthood, affected individuals typically begin to experience muscle weakness and wasting (atrophy) in one or both calves. If only one leg is affected, the calves appear different in size (asymmetrical). Calf weakness can make it difficult to stand on tiptoe.  As Miyoshi myopathy slowly progresses, the muscle weakness and atrophy spread up the leg to the muscles in the thigh and buttock. Eventually, affected individuals may have difficulty climbing stairs or walking for an extended period of time. Some people with Miyoshi myopathy may eventually need wheelchair assistance.  Rarely, the upper arm or shoulder muscles are mildly affected in Miyoshi myopathy. In a few cases, abnormal heart rhythms (arrhythmias) have developed. Individuals with Miyoshi myopathy have highly elevated levels of an enzyme called creatine kinase (CK) in their blood, which often indicates muscle disease.
This is a medical question of type : frequency 
 How many people are affected by Miyoshi myopathy ? 
 The exact prevalence of Miyoshi myopathy is unknown. In Japan, where the condition was first described, it is estimated to affect 1 in 440,000 individuals.
This is a medical question of type : genetic changes 
 What are the genetic changes related to Miyoshi myopathy ? 
 Miyoshi myopathy is caused by mutations in the DYSF or ANO5 gene. When this condition is caused by ANO5 gene mutations it is sometimes referred to as distal anoctaminopathy. The DYSF and ANO5 genes provide instructions for making proteins primarily found in muscles that are used for movement (skeletal muscles). The protein produced from the DYSF gene, called dysferlin, is found in the thin membrane called the sarcolemma that surrounds muscle fibers. Dysferlin is thought to aid in repairing the sarcolemma when it becomes damaged or torn due to muscle strain.  The ANO5 gene provides instructions for making a protein called anoctamin-5. This protein is located within the membrane of a cell structure called the endoplasmic reticulum, which is involved in protein production, processing, and transport. Anoctamin-5 is thought to act as a channel, allowing charged chlorine atoms (chloride ions) to flow in and out of the endoplasmic reticulum. The regulation of chloride flow within muscle cells plays a role in controlling muscle tensing (contraction) and relaxation.  DYSF or ANO5 gene mutations often result in a decrease or elimination of the corresponding protein. A lack of dysferlin leads to a reduced ability to repair damage done to the sarcolemma of muscle fibers. As a result, damage accumulates and leads to atrophy of the muscle fiber. It is unclear why this damage leads to the specific pattern of weakness and atrophy that is characteristic of Miyoshi myopathy. The effects of the loss of anoctamin-5 are also unclear. While chloride is necessary for normal muscle function, it is unknown how a lack of this chloride channel causes the signs and symptoms of Miyoshi myopathy.
This is a medical question of type : inheritance 
 Is Miyoshi myopathy inherited ? 
 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
This is a medical question of type : treatment 
 What are the treatments for Miyoshi myopathy ? 
 These resources address the diagnosis or management of Miyoshi myopathy:  - Gene Review: Gene Review: ANO5-Related Muscle Diseases  - Gene Review: Gene Review: Dysferlinopathy  - Genetic Testing Registry: Miyoshi muscular dystrophy 1  - Genetic Testing Registry: Miyoshi muscular dystrophy 3   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care
This is a medical question of type : information 
 What is (are) 17-beta hydroxysteroid dehydrogenase 3 deficiency ? 
 17-beta hydroxysteroid dehydrogenase 3 deficiency is a condition that affects male sexual development. People with this condition are genetically male, with one X and one Y chromosome in each cell, and they have male gonads (testes). Their bodies, however, do not produce enough of the male sex hormone testosterone. Testosterone has a critical role in male sexual development, and a shortage of this hormone disrupts the formation of the external sex organs before birth.  Most people with 17-beta hydroxysteroid dehydrogenase 3 deficiency are born with external genitalia that appear female. In some cases, the external genitalia do not look clearly male or clearly female (sometimes called ambiguous genitalia). Still other affected infants have genitalia that appear predominantly male, often with an unusually small penis (micropenis) or the urethra opening on the underside of the penis (hypospadias).  During puberty, people with this condition develop some secondary sex characteristics, such as increased muscle mass, deepening of the voice, and development of male pattern body hair. The penis and scrotum (the sac of skin that holds the testes) grow larger during this period. In addition to these changes typical of adolescent boys, some affected males may also experience breast enlargement (gynecomastia). Men with this disorder are generally unable to father children (infertile).  Children with 17-beta hydroxysteroid dehydrogenase 3 deficiency are often raised as girls. About half of these individuals adopt a male gender role in adolescence or early adulthood.
This is a medical question of type : frequency 
 How many people are affected by 17-beta hydroxysteroid dehydrogenase 3 deficiency ? 
 17-beta hydroxysteroid dehydrogenase 3 deficiency is a rare disorder. Researchers have estimated that this condition occurs in approximately 1 in 147,000 newborns. It is more common in the Arab population of Gaza, where it affects 1 in 200 to 300 people.
This is a medical question of type : genetic changes 
 What are the genetic changes related to 17-beta hydroxysteroid dehydrogenase 3 deficiency ? 
 Mutations in the HSD17B3 gene cause 17-beta hydroxysteroid dehydrogenase 3 deficiency. The HSD17B3 gene provides instructions for making an enzyme called 17-beta hydroxysteroid dehydrogenase 3. This enzyme is active in the testes, where it helps to produce testosterone from a precursor hormone called androstenedione.  Mutations in the HSD17B3 gene result in a 17-beta hydroxysteroid dehydrogenase 3 enzyme with little or no activity, reducing testosterone production. A shortage of testosterone affects the development of the reproductive tract in the male fetus, resulting in the abnormalities in the external sex organs that occur in 17-beta hydroxysteroid dehydrogenase 3 deficiency.  At puberty, conversion of androstenedione to testosterone increases in various tissues of the body through processes involving other enzymes. The additional testosterone results in the development of male secondary sex characteristics in adolescents, including those with 17-beta dehydrogenase 3 deficiency.  A portion of the androstenedione is also converted to the female sex hormone estrogen. Since impairment of the conversion to testosterone in this disorder results in excess androstenedione in the body, a corresponding excess of estrogen may be produced, leading to breast enlargement in some affected individuals.
This is a medical question of type : inheritance 
 Is 17-beta hydroxysteroid dehydrogenase 3 deficiency inherited ? 
 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Individuals who are genetically male and have two copies of a mutated gene in each cell are affected by 17-beta hydroxysteroid dehydrogenase 3 deficiency. People with two mutations who are genetically female do not usually experience any signs and symptoms of this disorder.
This is a medical question of type : treatment 
 What are the treatments for 17-beta hydroxysteroid dehydrogenase 3 deficiency ? 
 These resources address the diagnosis or management of 17-beta hydroxysteroid dehydrogenase 3 deficiency:  - Genetic Testing Registry: Testosterone 17-beta-dehydrogenase deficiency  - MedlinePlus Encyclopedia: Ambiguous Genitalia  - MedlinePlus Encyclopedia: Intersex   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care