randomani/MedicalQnA-llama2 huggingface dataset:
This is a medical question of type : treatment 
 What are the treatments for methylmalonic acidemia with homocystinuria ? 
 These resources address the diagnosis or management of methylmalonic acidemia with homocystinuria:  - Baby's First Test: Methylmalonic Acidemia with Homocystinuria  - Gene Review: Gene Review: Disorders of Intracellular Cobalamin Metabolism  - Genetic Testing Registry: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE  - Genetic Testing Registry: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE  - Genetic Testing Registry: Methylmalonic acidemia with homocystinuria  - Genetic Testing Registry: Methylmalonic acidemia with homocystinuria cblD   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) 2q37 deletion syndrome ? 
 2q37 deletion syndrome is a condition that can affect many parts of the body. This condition is characterized by weak muscle tone (hypotonia) in infancy, mild to severe intellectual disability and developmental delay, behavioral problems, characteristic facial features, and other physical abnormalities.  Most babies with 2q37 deletion syndrome are born with hypotonia, which usually improves with age. About 25 percent of people with this condition have autism, a developmental condition that affects communication and social interaction.  The characteristic facial features associated with 2q37 deletion syndrome include a prominent forehead, highly arched eyebrows, deep-set eyes, a flat nasal bridge, a thin upper lip, and minor ear abnormalities. Other features of this condition can include short stature, obesity, unusually short fingers and toes (brachymetaphalangy), sparse hair, heart defects, seizures, and an inflammatory skin disorder called eczema. A few people with 2q37 deletion syndrome have a rare form of kidney cancer called Wilms tumor. Some affected individuals have malformations of the brain, gastrointestinal system, kidneys, or genitalia.
This is a medical question of type : frequency 
 How many people are affected by 2q37 deletion syndrome ? 
 2q37 deletion syndrome appears to be a rare condition, although its exact prevalence is unknown. Approximately 100 cases have been reported worldwide.
This is a medical question of type : genetic changes 
 What are the genetic changes related to 2q37 deletion syndrome ? 
 2q37 deletion syndrome is caused by a deletion of genetic material from a specific region in the long (q) arm of chromosome 2. The deletion occurs near the end of the chromosome at a location designated 2q37. The size of the deletion varies among affected individuals. The signs and symptoms of this disorder are probably related to the loss of multiple genes in this region.
This is a medical question of type : inheritance 
 Is 2q37 deletion syndrome inherited ? 
 Most cases of 2q37 deletion syndrome are not inherited. They result from a chromosomal deletion that occurs as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. Affected people typically have no history of the disorder in their family.  Rarely, affected individuals inherit a copy of chromosome 2 with a deleted segment from an unaffected parent. In these cases, one of the parents carries a chromosomal rearrangement between chromosome 2 and another chromosome. This rearrangement is called a balanced translocation. No genetic material is gained or lost in a balanced translocation, so these chromosomal changes usually do not cause any health problems. However, translocations can become unbalanced as they are passed to the next generation. Children who inherit an unbalanced translocation can have a chromosomal rearrangement with extra or missing genetic material. Some individuals with 2q37 deletion syndrome inherit an unbalanced translocation that deletes genetic material near the end of the long arm of chromosome 2, which results in birth defects and other health problems characteristic of this disorder.
This is a medical question of type : treatment 
 What are the treatments for 2q37 deletion syndrome ? 
 These resources address the diagnosis or management of 2q37 deletion syndrome:  - Gene Review: Gene Review: 2q37 Microdeletion Syndrome  - Genetic Testing Registry: Brachydactyly-Mental Retardation 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) congenital mirror movement disorder ? 
 Congenital mirror movement disorder is a condition in which intentional movements of one side of the body are mirrored by involuntary movements of the other side. For example, when an affected individual makes a fist with the right hand, the left hand makes a similar movement. The mirror movements in this disorder primarily involve the upper limbs, especially the hands and fingers. This pattern of movements is present from infancy or early childhood and usually persists throughout life, without other associated signs and symptoms. Intelligence and lifespan are not affected.  People with congenital mirror movement disorder can have some difficulty with certain activities of daily living, particularly with those requiring different movements in each hand, such as typing on a keyboard. They may experience discomfort or pain in the upper limbs during prolonged use of the hands.  The extent of the mirror movements in this disorder can vary, even within the same family. In most cases, the involuntary movements are noticeable but less pronounced than the corresponding voluntary movements. The extent of the movements typically stay the same throughout the lifetime of an affected individual.  Mirror movements can also occur in people who do not have congenital mirror movement disorder. Mild mirror movements are common during the normal development of young children and typically disappear before age 7. They can also develop later in life in people with neurodegenerative disorders such as Parkinson disease. Mirror movements may also be present in certain other conditions with a wider range of signs and symptoms (syndromes).
This is a medical question of type : frequency 
 How many people are affected by congenital mirror movement disorder ? 
 Congenital mirror movement disorder is a very rare disorder. Its prevalence is thought to be less than 1 in 1 million. Researchers suggest that some mildly affected individuals may never be diagnosed.
This is a medical question of type : genetic changes 
 What are the genetic changes related to congenital mirror movement disorder ? 
 Congenital mirror movement disorder can be caused by mutations in the DCC or RAD51 gene; mutations in these genes account for a total of about 35 percent of cases. Mutations in other genes that have not been identified likely account for other cases of this disorder.  The DCC gene provides instructions for making a protein called the netrin-1 receptor, which is involved in the development of the nervous system. This receptor attaches (binds) to a substance called netrin-1, fitting together like a lock and its key. The binding of netrin-1 to its receptor triggers signaling that helps direct the growth of specialized nerve cell extensions called axons, which transmit nerve impulses that signal muscle movement. Normally, signals from each half of the brain control movements on the opposite side of the body. Binding of netrin-1 to its receptor inhibits axons from developing in ways that would carry movement signals from each half of the brain to the same side of the body.  Mutations in the DCC gene result in an impaired or missing netrin-1 receptor protein. A shortage of functional netrin-1 receptor protein impairs control of axon growth during nervous system development. As a result, movement signals from each half of the brain are abnormally transmitted to both sides of the body, leading to mirror movements.  The RAD51 gene provides instructions for making a protein that is also thought to be involved in the development of nervous system functions that control movement, but its role in this development is unclear. Mutations in the RAD51 gene result in a missing or impaired RAD51 protein, but it is unknown how a shortage of functional RAD51 protein affects nervous system development and leads to the signs and symptoms of congenital mirror movement disorder.
This is a medical question of type : inheritance 
 Is congenital mirror movement disorder inherited ? 
 In most cases, including those caused by mutations in the DCC or RAD51 gene, 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 altered gene. Some people who have the altered gene never develop the condition, a situation known as reduced penetrance.  Research suggests that in rare cases, this condition may be 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 congenital mirror movement disorder ? 
 These resources address the diagnosis or management of congenital mirror movement disorder:  - Gene Review: Gene Review: Congenital Mirror Movements  - Genetic Testing Registry: Mirror movements 2  - Genetic Testing Registry: Mirror movements, congenital  - KidsHealth: Occupational Therapy   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) Duane-radial ray syndrome ? 
 Duane-radial ray syndrome is a disorder that affects the eyes and causes abnormalities of bones in the arms and hands. This condition is characterized by a particular problem with eye movement called Duane anomaly (also known as Duane syndrome). This abnormality results from the improper development of certain nerves that control eye movement. Duane anomaly limits outward eye movement (toward the ear), and in some cases may limit inward eye movement (toward the nose). Also, as the eye moves inward, the eye opening becomes narrower and the eyeball may pull back (retract) into its socket.  Bone abnormalities in the hands include malformed or absent thumbs, an extra thumb, or a long thumb that looks like a finger. Partial or complete absence of bones in the forearm is also common. Together, these hand and arm abnormalities are known as radial ray malformations.  People with the combination of Duane anomaly and radial ray malformations may have a variety of other signs and symptoms. These features include unusually shaped ears, hearing loss, heart and kidney defects, a distinctive facial appearance, an inward- and upward-turning foot (clubfoot), and fused spinal bones (vertebrae).  The varied signs and symptoms of Duane-radial ray syndrome often overlap with features of other disorders. For example, acro-renal-ocular syndrome is characterized by Duane anomaly and other eye abnormalities, radial ray malformations, and kidney defects. Both conditions are caused by mutations in the same gene. Based on these similarities, researchers suspect that Duane-radial ray syndrome and acro-renal-ocular syndrome are part of an overlapping set of syndromes with many possible signs and symptoms. The features of Duane-radial ray syndrome are also similar to those of a condition called Holt-Oram syndrome; however, these two disorders are caused by mutations in different genes.
This is a medical question of type : frequency 
 How many people are affected by Duane-radial ray syndrome ? 
 Duane-radial ray syndrome is a rare condition whose prevalence is unknown. Only a few affected families have been reported worldwide.
This is a medical question of type : genetic changes 
 What are the genetic changes related to Duane-radial ray syndrome ? 
 Duane-radial ray syndrome results from mutations in the SALL4 gene. This gene is part of a group of genes called the SALL family. SALL genes provide instructions for making proteins that are involved in the formation of tissues and organs before birth. The proteins produced from these genes act as transcription factors, which means they attach (bind) to specific regions of DNA and help control the activity of particular genes. The exact function of the SALL4 protein is unclear, although it appears to be important for the normal development of the eyes, heart, and limbs.  Mutations in the SALL4 gene prevent cells from making any functional protein from one copy of the gene. It is unclear how a reduction in the amount of the SALL4 protein leads to Duane anomaly, radial ray malformations, and the other features of Duane-radial ray syndrome and similar conditions.
This is a medical question of type : inheritance 
 Is Duane-radial ray syndrome inherited ? 
 This condition is inherited in an autosomal dominant pattern, which means one copy of the altered SALL4 gene in each cell is sufficient to cause the disorder. In many cases, an affected person inherits a mutation from one affected parent. 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 Duane-radial ray syndrome ? 
 These resources address the diagnosis or management of Duane-radial ray syndrome:  - Gene Review: Gene Review: SALL4-Related Disorders  - Genetic Testing Registry: Duane-radial ray syndrome  - MedlinePlus Encyclopedia: Skeletal Limb Abnormalities   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) prion disease ? 
 Prion disease represents a group of conditions that affect the nervous system in humans and animals. In people, these conditions impair brain function, causing changes in memory, personality, and behavior; a decline in intellectual function (dementia); and abnormal movements, particularly difficulty with coordinating movements (ataxia). The signs and symptoms of prion disease typically begin in adulthood and worsen with time, leading to death within a few months to several years.
This is a medical question of type : frequency 
 How many people are affected by prion disease ? 
 These disorders are very rare. Although the exact prevalence of prion disease is unknown, studies suggest that this group of conditions affects about one person per million worldwide each year. Approximately 350 new cases are reported annually in the United States.
This is a medical question of type : genetic changes 
 What are the genetic changes related to prion disease ? 
 Between 10 and 15 percent of all cases of prion disease are caused by mutations in the PRNP gene. Because they can run in families, these forms of prion disease are classified as familial. Familial prion diseases, which have overlapping signs and symptoms, include familial Creutzfeldt-Jakob disease (CJD), Gerstmann-Strussler-Scheinker syndrome (GSS), and fatal familial insomnia (FFI).  The PRNP gene provides instructions for making a protein called prion protein (PrP). Although the precise function of this protein is unknown, researchers have proposed roles in several important processes. These include the transport of copper into cells, protection of brain cells (neurons) from injury (neuroprotection), and communication between neurons. In familial forms of prion disease, PRNP gene mutations result in the production of an abnormally shaped protein, known as PrPSc, from one copy of the gene. In a process that is not fully understood, PrPSc can attach (bind) to the normal protein (PrPC) and promote its transformation into PrPSc. The abnormal protein builds up in the brain, forming clumps that damage or destroy neurons. The loss of these cells creates microscopic sponge-like holes (vacuoles) in the brain, which leads to the signs and symptoms of prion disease.  The other 85 to 90 percent of cases of prion disease are classified as either sporadic or acquired. People with sporadic prion disease have no family history of the disease and no identified mutation in the PRNP gene. Sporadic disease occurs when PrPC spontaneously, and for unknown reasons, is transformed into PrPSc. Sporadic forms of prion disease include sporadic Creutzfeldt-Jakob disease (sCJD), sporadic fatal insomnia (sFI), and variably protease-sensitive prionopathy (VPSPr).  Acquired prion disease results from exposure to PrPSc from an outside source. For example, variant Creutzfeldt-Jakob disease (vCJD) is a type of acquired prion disease in humans that results from eating beef products containing PrPSc from cattle with prion disease. In cows, this form of the disease is known as bovine spongiform encephalopathy (BSE) or, more commonly, "mad cow disease." Another example of an acquired human prion disease is kuru, which was identified in the South Fore population in Papua New Guinea. The disorder was transmitted when individuals ate affected human tissue during cannibalistic funeral rituals.  Rarely, prion disease can be transmitted by accidental exposure to PrPSc-contaminated tissues during a medical procedure. This type of prion disease, which accounts for 1 to 2 percent of all cases, is classified as iatrogenic.
This is a medical question of type : inheritance 
 Is prion disease inherited ? 
 Familial forms of prion disease are inherited in an autosomal dominant pattern, which means one copy of the altered PRNP gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the altered gene from one affected parent. In some people, familial forms of prion disease are caused by a new mutation in the gene that occurs during the formation of a parent's reproductive cells (eggs or sperm) or in early embryonic development. Although such people do not have an affected parent, they can pass the genetic change to their children.  The sporadic, acquired, and iatrogenic forms of prion disease, including kuru and variant Creutzfeldt-Jakob disease, are not inherited.
This is a medical question of type : treatment 
 What are the treatments for prion disease ? 
 These resources address the diagnosis or management of prion disease:  - Creutzfeldt-Jakob Disease Foundation: Suggestions for Patient Care  - Gene Review: Gene Review: Genetic Prion Diseases  - Genetic Testing Registry: Genetic prion diseases  - MedlinePlus Encyclopedia: Creutzfeldt-Jakob disease  - MedlinePlus Encyclopedia: Kuru  - University of California, San Fransisco Memory and Aging Center: Living With Creutzfeldt-Jakob Disease  - University of California, San Fransisco Memory and Aging Center: Treatments for Creutzfeldt-Jakob Disease   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) X-linked myotubular myopathy ? 
 X-linked myotubular myopathy is a condition that primarily affects muscles used for movement (skeletal muscles) and occurs almost exclusively in males. People with this condition have muscle weakness (myopathy) and decreased muscle tone (hypotonia) that are usually evident at birth.  The muscle problems in X-linked myotubular myopathy impair the development of motor skills such as sitting, standing, and walking. Affected infants may also have difficulties with feeding due to muscle weakness. Individuals with this condition often do not have the muscle strength to breathe on their own and must be supported with a machine to help them breathe (mechanical ventilation). Some affected individuals need breathing assistance only periodically, typically during sleep, while others require it continuously. People with X-linked myotubular myopathy may also have weakness in the muscles that control eye movement (ophthalmoplegia), weakness in other muscles of the face, and absent reflexes (areflexia).  In X-linked myotubular myopathy, muscle weakness often disrupts normal bone development and can lead to fragile bones, an abnormal curvature of the spine (scoliosis), and joint deformities (contractures) of the hips and knees. People with X-linked myotubular myopathy may have a large head with a narrow and elongated face and a high, arched roof of the mouth (palate). They may also have liver disease, recurrent ear and respiratory infections, or seizures.  Because of their severe breathing problems, individuals with X-linked myotubular myopathy usually survive only into early childhood; however, some people with this condition have lived into adulthood.  X-linked myotubular myopathy is a member of a group of disorders called centronuclear myopathies. In centronuclear myopathies, the nucleus is found at the center of many rod-shaped muscle cells instead of at either end, where it is normally located.
This is a medical question of type : frequency 
 How many people are affected by X-linked myotubular myopathy ? 
 The incidence of X-linked myotubular myopathy is estimated to be 1 in 50,000 newborn males worldwide.
This is a medical question of type : genetic changes 
 What are the genetic changes related to X-linked myotubular myopathy ? 
 Mutations in the MTM1 gene cause X-linked myotubular myopathy. The MTM1 gene provides instructions for producing an enzyme called myotubularin. Myotubularin is thought to be involved in the development and maintenance of muscle cells.  MTM1 gene mutations probably disrupt myotubularin's role in muscle cell development and maintenance, causing muscle weakness and other signs and symptoms of X-linked myotubular myopathy.
This is a medical question of type : inheritance 
 Is X-linked myotubular myopathy inherited ? 
 X-linked myotubular myopathy is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation must be present in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.  In X-linked myotubular myopathy, the affected male inherits one altered copy from his mother in 80 to 90 percent of cases. In the remaining 10 to 20 percent of cases, the disorder results from a new mutation in the gene that occurs during the formation of a parent's reproductive cells (eggs or sperm) or in early embryonic development. Females with one altered copy of the MTM1 gene generally do not experience signs and symptoms of the disorder. In rare cases, however, females who have one altered copy of the MTM1 gene experience some mild muscle weakness.
This is a medical question of type : treatment 
 What are the treatments for X-linked myotubular myopathy ? 
 These resources address the diagnosis or management of X-linked myotubular myopathy:  - Gene Review: Gene Review: X-Linked Centronuclear Myopathy  - Genetic Testing Registry: Severe X-linked myotubular myopathy   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