Druvith/medqa1 huggingface dataset:
Question:  What is (are) pontocerebellar hypoplasia ?
Answer: Pontocerebellar hypoplasia is a group of related conditions that affect the development of the brain. The term "pontocerebellar" refers to the pons and the cerebellum, which are the brain structures that are most severely affected in many forms of this disorder. The pons is located at the base of the brain in an area called the brainstem, where it transmits signals between the cerebellum and the rest of the brain. The cerebellum, which is located at the back of the brain, normally coordinates movement. The term "hypoplasia" refers to the underdevelopment of these brain regions.  Pontocerebellar hypoplasia also causes impaired growth of other parts of the brain, leading to an unusually small head size (microcephaly). This microcephaly is usually not apparent at birth but becomes noticeable as brain growth continues to be slow in infancy and early childhood.  Researchers have described at least ten types of pontocerebellar hypoplasia. All forms of this condition are characterized by impaired brain development, delayed development overall, problems with movement, and intellectual disability. The brain abnormalities are usually present at birth, and in some cases they can be detected before birth. Many children with pontocerebellar hypoplasia live only into infancy or childhood, although some affected individuals have lived into adulthood.  The two major forms of pontocerebellar hypoplasia are designated as type 1 (PCH1) and type 2 (PCH2). In addition to the brain abnormalities described above, PCH1 causes problems with muscle movement resulting from a loss of specialized nerve cells called motor neurons in the spinal cord, similar to another genetic disorder known as spinal muscular atrophy. Individuals with PCH1 also have very weak muscle tone (hypotonia), joint deformities called contractures, vision impairment, and breathing and feeding problems that are evident from early infancy.  Common features of PCH2 include a lack of voluntary motor skills (such as grasping objects, sitting, or walking), problems with swallowing (dysphagia), and an absence of communication, including speech. Affected children typically develop temporary jitteriness (generalized clonus) in early infancy, abnormal patterns of movement described as chorea or dystonia, and stiffness (spasticity). Many also have impaired vision and seizures.  The other forms of pontocerebellar hypoplasia, designated as type 3 (PCH3) through type 10 (PCH10), appear to be rare and have each been reported in only a small number of individuals. Because the different types have overlapping features, and some are caused by mutations in the same genes, researchers have proposed that the types be considered as a spectrum instead of distinct conditions.
Question:  How many people are affected by pontocerebellar hypoplasia ?
Answer: The prevalence of pontocerebellar hypoplasia is unknown, although most forms of the disorder appear to be very rare.
Question:  What are the genetic changes related to pontocerebellar hypoplasia ?
Answer: Pontocerebellar hypoplasia can result from mutations in several genes. About half of all cases of PCH1 are caused by mutations in the EXOSC3 gene. PCH1 can also result from mutations in several other genes, including TSEN54, RARS2, and VRK1. PCH2 is caused by mutations in the TSEN54, TSEN2, TSEN34, or SEPSECS gene. In addition to causing PCH1 and PCH2, mutations in the TSEN54 gene can cause PCH4 and PCH5. Mutations in the RARS2 gene, in addition to causing PCH1, can result in PCH6. The remaining types of pontocerebellar hypoplasia are caused by mutations in other genes. In some cases, the genetic cause of pontocerebellar hypoplasia is unknown.  The genes associated with pontocerebellar hypoplasia appear to play essential roles in the development and survival of nerve cells (neurons). Many of these genes are known or suspected to be involved in processing RNA molecules, which are chemical cousins of DNA. Fully processed, mature RNA molecules are essential for the normal functioning of all cells, including neurons. Studies suggest that abnormal RNA processing likely underlies the abnormal brain development characteristic of pontocerebellar hypoplasia, although the exact mechanism is unknown. Researchers hypothesize that developing neurons in certain areas of the brain may be particularly sensitive to problems with RNA processing.  Some of the genes associated with pontocerebellar hypoplasia have functions unrelated to RNA processing. In most cases, it is unclear how mutations in these genes impair brain development.
Question:  Is pontocerebellar hypoplasia inherited ?
Answer: 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.
Question:  What are the treatments for pontocerebellar hypoplasia ?
Answer: These resources address the diagnosis or management of pontocerebellar hypoplasia:  - Gene Review: Gene Review: EXOSC3-Related Pontocerebellar Hypoplasia  - Gene Review: Gene Review: TSEN54-Related Pontocerebellar Hypoplasia  - Genetic Testing Registry: Pontoneocerebellar hypoplasia  - 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
Question:  What is (are) Imerslund-Grsbeck syndrome ?
Answer: Imerslund-Grsbeck syndrome is a condition caused by low levels of vitamin B12 (also known as cobalamin). The primary feature of this condition is a blood disorder called megaloblastic anemia. In this form of anemia, which is a disorder characterized by the shortage of red blood cells, the red cells that are present are abnormally large. About half of people with Imerslund-Grsbeck syndrome also have high levels of protein in their urine (proteinuria). Although proteinuria can be an indication of kidney problems, people with Imerslund-Grsbeck syndrome appear to have normal kidney function.  Imerslund-Grsbeck syndrome typically begins in infancy or early childhood. The blood abnormality leads to many of the signs and symptoms of the condition, including an inability to grow and gain weight at the expected rate (failure to thrive), pale skin (pallor), excessive tiredness (fatigue), and recurring gastrointestinal or respiratory infections. Other features of Imerslund-Grsbeck syndrome include mild neurological problems, such as weak muscle tone (hypotonia), numbness or tingling in the hands or feet, movement problems, delayed development, or confusion. Rarely, affected individuals have abnormalities of organs or tissues that make up the urinary tract, such as the bladder or the tubes that carry fluid from the kidneys to the bladder (the ureters).
Question:  How many people are affected by Imerslund-Grsbeck syndrome ?
Answer: Imerslund-Grsbeck syndrome is a rare condition that was first described in Finland and Norway; in these regions, the condition is estimated to affect 1 in 200,000 people. The condition has also been reported in other countries worldwide; its prevalence in these countries is unknown.
Question:  What are the genetic changes related to Imerslund-Grsbeck syndrome ?
Answer: Mutations in the AMN or CUBN gene can cause Imerslund-Grsbeck syndrome. The AMN gene provides instructions for making a protein called amnionless, and the CUBN gene provides instructions for making a protein called cubilin. Together, these proteins play a role in the uptake of vitamin B12 from food. Vitamin B12, which cannot be made in the body and can only be obtained from food, is essential for the formation of DNA and proteins, the production of cellular energy, and the breakdown of fats. This vitamin is involved in the formation of red blood cells and maintenance of the brain and spinal cord (central nervous system).  The amnionless protein is embedded primarily in the membrane of kidney cells and cells that line the small intestine. Amnionless attaches (binds) to cubilin, anchoring cubilin to the cell membrane. Cubilin can interact with molecules and proteins passing through the intestine or kidneys. During digestion, vitamin B12 is released from food. As the vitamin passes through the small intestine, cubilin binds to it. Amnionless helps transfer the cubilin-vitamin B12 complex into the intestinal cell. From there, the vitamin is released into the blood and transported throughout the body. In the kidney, the amnionless and cubilin proteins are involved in the reabsorption of certain proteins that would otherwise be released in urine.  Mutations in the AMN gene prevent cubilin from attaching to the cells in the small intestine and kidneys. Without cubilin function in the small intestine, vitamin B12 is not taken into the body. A shortage of this essential vitamin impairs the proper development of red blood cells, leading to megaloblastic anemia. Low levels of vitamin B12 can also affect the central nervous system, causing neurological problems. In addition, without cubilin function in the kidneys, proteins are not reabsorbed and are instead released in urine, leading to proteinuria.  Like AMN gene mutations, some CUBN gene mutations impair cubilin's function in both the small intestine and the kidneys, leading to a shortage of vitamin B12 and proteinuria. Other CUBN gene mutations affect cubilin's function only in the small intestine, impairing uptake of vitamin B12 into the intestinal cells. Individuals with these mutations have a shortage of vitamin B12, which can lead to megaloblastic anemia and neurological problems, but not proteinuria.
Question:  Is Imerslund-Grsbeck syndrome inherited ?
Answer: 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.
Question:  What are the treatments for Imerslund-Grsbeck syndrome ?
Answer: These resources address the diagnosis or management of Imerslund-Grsbeck syndrome:  - MedlinePlus Encyclopedia: Anemia - B12 deficiency   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
Question:  What is (are) Fukuyama congenital muscular dystrophy ?
Answer: Fukuyama congenital muscular dystrophy is an inherited condition that predominantly affects the muscles, brain, and eyes. Congenital muscular dystrophies are a group of genetic conditions that cause muscle weakness and wasting (atrophy) beginning very early in life.  Fukuyama congenital muscular dystrophy affects the skeletal muscles, which are muscles the body uses for movement. The first signs of the disorder appear in early infancy and include a weak cry, poor feeding, and weak muscle tone (hypotonia). Weakness of the facial muscles often leads to a distinctive facial appearance including droopy eyelids (ptosis) and an open mouth. In childhood, muscle weakness and joint deformities (contractures) restrict movement and interfere with the development of motor skills such as sitting, standing, and walking.  Fukuyama congenital muscular dystrophy also impairs brain development. People with this condition have a brain abnormality called cobblestone lissencephaly, in which the surface of the brain develops a bumpy, irregular appearance (like that of cobblestones). These changes in the structure of the brain lead to significantly delayed development of speech and motor skills and moderate to severe intellectual disability. Social skills are less severely impaired. Most children with Fukuyama congenital muscular dystrophy are never able to stand or walk, although some can sit without support and slide across the floor in a seated position. More than half of all affected children also experience seizures.  Other signs and symptoms of Fukuyama congenital muscular dystrophy include impaired vision, other eye abnormalities, and slowly progressive heart problems after age 10. As the disease progresses, affected people may develop swallowing difficulties that can lead to a bacterial lung infection called aspiration pneumonia. Because of the serious medical problems associated with Fukuyama congenital muscular dystrophy, most people with the disorder live only into late childhood or adolescence.
Question:  How many people are affected by Fukuyama congenital muscular dystrophy ?
Answer: Fukuyama congenital muscular dystrophy is seen almost exclusively in Japan, where it is the second most common form of childhood muscular dystrophy (after Duchenne muscular dystrophy). Fukuyama congenital muscular dystrophy has an estimated incidence of 2 to 4 per 100,000 Japanese infants.
Question:  What are the genetic changes related to Fukuyama congenital muscular dystrophy ?
Answer: Fukuyama congenital muscular dystrophy is caused by mutations in the FKTN gene. This gene provides instructions for making a protein called fukutin. Although the exact function of fukutin is unclear, researchers predict that it may chemically modify a protein called alpha ()-dystroglycan. This protein anchors cells to the lattice of proteins and other molecules (the extracellular matrix) that surrounds them. In skeletal muscles, -dystroglycan helps stabilize and protect muscle fibers. In the brain, this protein helps direct the movement (migration) of nerve cells (neurons) during early development.  The most common mutation in the FKTN gene reduces the amount of fukutin produced within cells. A shortage of fukutin likely prevents the normal modification of -dystroglycan, which disrupts that protein's normal function. Without functional -dystroglycan to stabilize muscle cells, muscle fibers become damaged as they repeatedly contract and relax with use. The damaged fibers weaken and die over time, leading to progressive weakness and atrophy of the skeletal muscles.  Defective -dystroglycan also affects the migration of neurons during the early development of the brain. Instead of stopping when they reach their intended destinations, some neurons migrate past the surface of the brain into the fluid-filled space that surrounds it. Researchers believe that this problem with neuronal migration causes cobblestone lissencephaly in children with Fukuyama congenital muscular dystrophy. Less is known about the effects of FKTN mutations in other parts of the body.  Because Fukuyama congenital muscular dystrophy involves a malfunction of -dystroglycan, this condition is described as a dystroglycanopathy.
Question:  Is Fukuyama congenital muscular dystrophy inherited ?
Answer: 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.
Question:  What are the treatments for Fukuyama congenital muscular dystrophy ?
Answer: These resources address the diagnosis or management of Fukuyama congenital muscular dystrophy:  - Gene Review: Gene Review: Congenital Muscular Dystrophy Overview  - Gene Review: Gene Review: Fukuyama Congenital Muscular Dystrophy  - Genetic Testing Registry: Fukuyama congenital muscular dystrophy  - MedlinePlus Encyclopedia: Aspiration Pneumonia  - MedlinePlus Encyclopedia: Muscular Dystrophy   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
Question:  What is (are) Klinefelter syndrome ?
Answer: Klinefelter syndrome is a chromosomal condition that affects male physical and cognitive development. Its signs and symptoms vary among affected individuals.  Affected individuals typically have small testes that do not produce as much testosterone as usual. Testosterone is the hormone that directs male sexual development before birth and during puberty. A shortage of testosterone can lead to delayed or incomplete puberty, breast enlargement (gynecomastia), reduced facial and body hair, and an inability to have biological children (infertility). Some affected individuals also have genital differences including undescended testes (cryptorchidism), the opening of the urethra on the underside of the penis (hypospadias), or an unusually small penis (micropenis).  Older children and adults with Klinefelter syndrome tend to be taller than their peers. Compared with unaffected men, adults with Klinefelter syndrome have an increased risk of developing breast cancer and a chronic inflammatory disease called systemic lupus erythematosus. Their chance of developing these disorders is similar to that of women in the general population.  Children with Klinefelter syndrome may have learning disabilities and delayed speech and language development. They tend to be quiet, sensitive, and unassertive, but personality characteristics vary among affected individuals.
Question:  How many people are affected by Klinefelter syndrome ?
Answer: Klinefelter syndrome affects 1 in 500 to 1,000 newborn males. Most variants of Klinefelter syndrome are much rarer, occurring in 1 in 50,000 or fewer newborns.  Researchers suspect that Klinefelter syndrome is underdiagnosed because the condition may not be identified in people with mild signs and symptoms. Additionally, the features of the condition vary and overlap significantly with those of other conditions.
Question:  What are the genetic changes related to Klinefelter syndrome ?
Answer: Klinefelter syndrome is a condition related to the X and Y chromosomes (the sex chromosomes). People typically have two sex chromosomes in each cell: females have two X chromosomes (46,XX), and males have one X and one Y chromosome (46,XY). Most often, Klinefelter syndrome results from the presence of one extra copy of the X chromosome in each cell (47,XXY). Extra copies of genes on the X chromosome interfere with male sexual development, often preventing the testes from functioning normally and reducing the levels of testosterone. Most people with an extra X chromosome have the features described above, although some have few or no associated signs and symptoms.  Some people with features of Klinefelter syndrome have more than one extra sex chromosome in each cell (for example, 48,XXXY or 49,XXXXY). These conditions, which are often called variants of Klinefelter syndrome, tend to cause more severe signs and symptoms than classic Klinefelter syndrome. In addition to affecting male sexual development, variants of Klinefelter syndrome are associated with intellectual disability, distinctive facial features, skeletal abnormalities, poor coordination, and severe problems with speech. As the number of extra sex chromosomes increases, so does the risk of these health problems.  Some people with features of Klinefelter syndrome have the extra X chromosome in only some of their cells; in these individuals, the condition is described as mosaic Klinefelter syndrome (46,XY/47,XXY). Individuals with mosaic Klinefelter syndrome may have milder signs and symptoms, depending on how many cells have an additional X chromosome.
Question:  Is Klinefelter syndrome inherited ?
Answer: Klinefelter syndrome and its variants are not inherited; these chromosomal changes usually occur as random events during the formation of reproductive cells (eggs and sperm) in a parent. An error in cell division called nondisjunction results in a reproductive cell with an abnormal number of chromosomes. For example, an egg or sperm cell may gain one or more extra copies of the X chromosome as a result of nondisjunction. If one of these atypical reproductive cells contributes to the genetic makeup of a child, the child will have one or more extra X chromosomes in each of the body's cells.  Mosaic 46,XY/47,XXY is also not inherited. It occurs as a random event during cell division early in fetal development. As a result, some of the body's cells have one X chromosome and one Y chromosome (46,XY), and other cells have an extra copy of the X chromosome (47,XXY).
Question:  What are the treatments for Klinefelter syndrome ?
Answer: These resources address the diagnosis or management of Klinefelter syndrome:  - Genetic Testing Registry: Klinefelter's syndrome, XXY  - MedlinePlus Encyclopedia: Klinefelter Syndrome  - MedlinePlus Encyclopedia: Testicular Failure   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
Question:  What is (are) Majeed syndrome ?
Answer: Majeed syndrome is a rare condition characterized by recurrent episodes of fever and inflammation in the bones and skin.  One of the major features of Majeed syndrome is an inflammatory bone condition known as chronic recurrent multifocal osteomyelitis (CRMO). This condition causes recurrent episodes of pain and joint swelling beginning in infancy or early childhood. These symptoms persist into adulthood, although they may improve for short periods. CRMO can lead to complications such as slow growth and the development of joint deformities called contractures, which restrict the movement of certain joints.  Another feature of Majeed syndrome is a blood disorder called congenital dyserythropoietic anemia. This disorder is one of many types of anemia, all of which involve a shortage of red blood cells. Without enough of these cells, the blood cannot carry an adequate supply of oxygen to the body's tissues. The resulting symptoms can include tiredness (fatigue), weakness, pale skin, and shortness of breath. Complications of congenital dyserythropoietic anemia can range from mild to severe.  Most people with Majeed syndrome also develop inflammatory disorders of the skin, most often a condition known as Sweet syndrome. The symptoms of Sweet syndrome include fever and the development of painful bumps or blisters on the face, neck, back, and arms.
Question:  How many people are affected by Majeed syndrome ?
Answer: Majeed syndrome appears to be very rare; it has been reported in three families, all from the Middle East.
Question:  What are the genetic changes related to Majeed syndrome ?
Answer: Majeed syndrome results from mutations in the LPIN2 gene. This gene provides instructions for making a protein called lipin-2. Researchers believe that this protein may play a role in the processing of fats (lipid metabolism). However, no lipid abnormalities have been found with Majeed syndrome. Lipin-2 also may be involved in controlling inflammation and in cell division.  Mutations in the LPIN2 gene alter the structure and function of lipin-2. It is unclear how these genetic changes lead to bone disease, anemia, and inflammation of the skin in people with Majeed syndrome.
Question:  Is Majeed syndrome inherited ?
Answer: 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. Although carriers typically do not show signs and symptoms of the condition, some parents of children with Majeed syndrome have had an inflammatory skin disorder called psoriasis.
Question:  What are the treatments for Majeed syndrome ?
Answer: These resources address the diagnosis or management of Majeed syndrome:  - Gene Review: Gene Review: Majeed Syndrome  - Genetic Testing Registry: Majeed syndrome  - MedlinePlus Encyclopedia: Osteomyelitis  - MedlinePlus Encyclopedia: Psoriasis   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