sarnsrun/medquad huggingface dataset:
Topic: spastic paraplegia type 3A
Question: What are the genetic changes related to spastic paraplegia type 3A ?
Answer: Mutations in the ATL1 gene cause spastic paraplegia type 3A. The ATL1 gene provides instructions for producing a protein called atlastin-1. Atlastin-1 is produced primarily in the brain and spinal cord (central nervous system), particularly in nerve cells (neurons) that extend down the spinal cord (corticospinal tracts). These neurons send electrical signals that lead to voluntary muscle movement. Atlastin-1 is involved in the growth of specialized extensions of neurons, called axons, which transmit nerve impulses that signal muscle movement. The protein also likely plays a role in the normal functioning of multiple structures within neurons and in distributing materials within these cells.  ATL1 gene mutations likely lead to a shortage of normal atlastin-1 protein, which impairs the functioning of neurons, including the distribution of materials within these cells. This lack of functional atlastin-1 protein may also restrict the growth of axons. These problems can lead to the abnormal functioning or death of the long neurons of the corticospinal tracts. As a result, the neurons are unable to transmit nerve impulses, particularly to other neurons and muscles in the lower extremities. This impaired nerve function leads to the signs and symptoms of spastic paraplegia type 3A.
Source: GHR
Topic: spastic paraplegia type 3A
Question: Is spastic paraplegia type 3A inherited ?
Answer: Spastic paraplegia type 3A 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 approximately 95 percent of cases, an affected person inherits the mutation from one affected parent.
Source: GHR
Topic: spastic paraplegia type 3A
Question: What are the treatments for spastic paraplegia type 3A ?
Answer: These resources address the diagnosis or management of spastic paraplegia type 3A:  - Gene Review: Gene Review: Hereditary Spastic Paraplegia Overview  - Gene Review: Gene Review: Spastic Paraplegia 3A  - Genetic Testing Registry: Spastic paraplegia 3  - Spastic Paraplegia Foundation, Inc.: Treatments and Therapies   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
Source: GHR
Topic: hereditary sensory and autonomic neuropathy type IE
Question: What is (are) hereditary sensory and autonomic neuropathy type IE ?
Answer: Hereditary sensory and autonomic neuropathy type IE (HSAN IE) is a disorder that affects the nervous system. Affected individuals have a gradual loss of intellectual function (dementia), typically beginning in their thirties. In some people with this disorder, changes in personality become apparent before problems with thinking skills.  People with HSAN IE also develop hearing loss that is caused by abnormalities in the inner ear (sensorineural hearing loss). The hearing loss gets worse over time and usually progresses to moderate or severe deafness between the ages of 20 and 35.  HSAN IE is characterized by impaired function of nerve cells called sensory neurons, which transmit information about sensations such as pain, temperature, and touch. Sensations in the feet and legs are particularly affected in people with HSAN IE. Gradual loss of sensation in the feet (peripheral neuropathy), which usually begins in adolescence or early adulthood, can lead to difficulty walking. Affected individuals may not be aware of injuries to their feet, which can lead to open sores and infections. If these complications are severe, amputation of the affected areas may be required.  HSAN IE is also characterized by a loss of the ability to sweat (sudomotor function), especially on the hands and feet. Sweating is a function of the autonomic nervous system, which also controls involuntary body functions such as heart rate, digestion, and breathing. These other autonomic functions are unaffected in people with HSAN IE.  The severity of the signs and symptoms of HSAN IE and their age of onset are variable, even within the same family.
Source: GHR
Topic: hereditary sensory and autonomic neuropathy type IE
Question: How many people are affected by hereditary sensory and autonomic neuropathy type IE ?
Answer: HSAN IE is a rare disorder; its prevalence is unknown. Small numbers of affected families have been identified in populations around the world.
Source: GHR
Topic: hereditary sensory and autonomic neuropathy type IE
Question: What are the genetic changes related to hereditary sensory and autonomic neuropathy type IE ?
Answer: HSAN IE is caused by mutations in the DNMT1 gene. This gene provides instructions for making an enzyme called DNA (cytosine-5)-methyltransferase 1. This enzyme is involved in DNA methylation, which is the addition of methyl groups, consisting of one carbon atom and three hydrogen atoms, to DNA molecules. In particular, the enzyme helps add methyl groups to DNA building blocks (nucleotides) called cytosines.  DNA methylation is important in many cellular functions. These include determining whether the instructions in a particular segment of DNA are carried out or suppressed (gene silencing), regulating reactions involving proteins and fats (lipids), and controlling the processing of chemicals that relay signals in the nervous system (neurotransmitters). DNA (cytosine-5)-methyltransferase 1 is active in the adult nervous system. Although its specific function is not well understood, the enzyme may help regulate nerve cell (neuron) maturation and specialization (differentiation), the ability of neurons to migrate where needed and connect with each other, and neuron survival.  DNMT1 gene mutations that cause HSAN IE reduce or eliminate the enzyme's methylation function, resulting in abnormalities in the maintenance of the neurons that make up the nervous system. However, it is not known how the mutations cause the specific signs and symptoms of HSAN IE.
Source: GHR
Topic: hereditary sensory and autonomic neuropathy type IE
Question: Is hereditary sensory and autonomic neuropathy type IE inherited ?
Answer: 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.
Source: GHR
Topic: hereditary sensory and autonomic neuropathy type IE
Question: What are the treatments for hereditary sensory and autonomic neuropathy type IE ?
Answer: These resources address the diagnosis or management of hereditary sensory and autonomic neuropathy type IE:  - Gene Review: Gene Review: DNMT1-Related Dementia, Deafness, and Sensory Neuropathy  - University of Chicago: Center for Peripheral Neuropathy   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
Source: GHR
Topic: multiple pterygium syndrome
Question: What is (are) multiple pterygium syndrome ?
Answer: Multiple pterygium syndrome is a condition that is evident before birth with webbing of the skin (pterygium) at the joints and a lack of muscle movement (akinesia) before birth. Akinesia frequently results in muscle weakness and joint deformities called contractures that restrict the movement of joints (arthrogryposis). As a result, multiple pterygium syndrome can lead to further problems with movement such as arms and legs that cannot fully extend.  The two forms of multiple pterygium syndrome are differentiated by the severity of their symptoms. Multiple pterygium syndrome, Escobar type (sometimes referred to as Escobar syndrome) is the milder of the two types. Lethal multiple pterygium syndrome is fatal before birth or very soon after birth.  In people with multiple pterygium syndrome, Escobar type, the webbing typically affects the skin of the neck, fingers, forearms, inner thighs, and backs of the knee. People with this type may also have arthrogryposis. A side-to-side curvature of the spine (scoliosis) is sometimes seen. Affected individuals may also have respiratory distress at birth due to underdeveloped lungs (lung hypoplasia). People with multiple pterygium syndrome, Escobar type usually have distinctive facial features including droopy eyelids (ptosis), outside corners of the eyes that point downward (downslanting palpebral fissures), skin folds covering the inner corner of the eyes (epicanthal folds), a small jaw, and low-set ears. Males with this condition can have undescended testes (cryptorchidism). This condition does not worsen after birth, and affected individuals typically do not have muscle weakness later in life.  Lethal multiple pterygium syndrome has many of the same signs and symptoms as the Escobar type. In addition, affected fetuses may develop a buildup of excess fluid in the body (hydrops fetalis) or a fluid-filled sac typically found on the back of the neck (cystic hygroma). Individuals with this type have severe arthrogryposis. Lethal multiple pterygium syndrome is associated with abnormalities such as underdevelopment (hypoplasia) of the heart, lung, or brain; twisting of the intestines (intestinal malrotation); kidney abnormalities; an opening in the roof of the mouth (a cleft palate); and an unusually small head size (microcephaly). Affected individuals may also develop a hole in the muscle that separates the abdomen from the chest cavity (the diaphragm), a condition called a congenital diaphragmatic hernia. Lethal multiple pterygium syndrome is typically fatal in the second or third trimester of pregnancy.
Source: GHR
Topic: multiple pterygium syndrome
Question: How many people are affected by multiple pterygium syndrome ?
Answer: The prevalence of multiple pterygium syndrome is unknown.
Source: GHR
Topic: multiple pterygium syndrome
Question: What are the genetic changes related to multiple pterygium syndrome ?
Answer: Mutations in the CHRNG gene cause most cases of multiple pterygium syndrome, Escobar type and a smaller percentage of cases of lethal multiple pterygium syndrome. The CHRNG gene provides instructions for making the gamma () protein component (subunit) of the acetylcholine receptor (AChR) protein. The AChR protein is found in the membrane of skeletal muscle cells and is critical for signaling between nerve and muscle cells. Signaling between these cells is necessary for movement. The AChR protein consists of five subunits. The  subunit is found only in the fetal AChR protein. At about the thirty-third week of pregnancy, the  subunit is replaced by another subunit to form adult AChR protein. The replacement of fetal AChR by adult AChR is the reason most people with multiple pterygium syndrome, Escobar type do not have problems with muscle movement after birth.  CHRNG gene mutations result in an impaired or missing  subunit. The severity of the CHRNG gene mutation influences the severity of the condition. Typically, mutations that prevent the production of any  subunit will result in the lethal type, while mutations that allow the production of some  subunit will lead to the Escobar type. Without a functional  subunit, the fetal AChR protein cannot be assembled or properly placed in the muscle cell membrane. As a result, the fetal AChR protein cannot function and the communication between nerve cells and muscle cells in the developing fetus is impaired. A lack of signaling between nerve and muscle cells leads to akinesia and pterygium before birth, and may result in many of the other signs and symptoms of multiple pterygium syndrome.  Mutations in other genes, most providing instructions for other AChR protein subunits, have been found to cause multiple pterygium syndrome. Changes in these genes can cause both the lethal and Escobar types of this condition, although they account for only a small number of cases. Some people with multiple pterygium syndrome do not have an identified mutation in any of the known genes associated with this condition. The cause of the disease in these individuals is unknown.
Source: GHR
Topic: multiple pterygium syndrome
Question: Is multiple pterygium 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.
Source: GHR
Topic: multiple pterygium syndrome
Question: What are the treatments for multiple pterygium syndrome ?
Answer: These resources address the diagnosis or management of multiple pterygium syndrome:  - Genetic Testing Registry: Lethal multiple pterygium syndrome  - Genetic Testing Registry: Multiple pterygium syndrome Escobar type   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
Source: GHR
Topic: Fukuyama congenital muscular dystrophy
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.
Source: GHR
Topic: Fukuyama congenital muscular dystrophy
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.
Source: GHR
Topic: Fukuyama congenital muscular dystrophy
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.
Source: GHR
Topic: Fukuyama congenital muscular dystrophy
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.
Source: GHR
Topic: Fukuyama congenital muscular dystrophy
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
Source: GHR
Topic: polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
Question: What is (are) polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy ?
Answer: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy, commonly known as PLOSL, is a progressive disorder that affects the bones and brain. "Polycystic lipomembranous osteodysplasia" refers to cyst-like bone changes that can be seen on x-rays. "Sclerosing leukoencephalopathy" describes specific changes in the brain that are found in people with this disorder.  The bone abnormalities associated with PLOSL usually become apparent in a person's twenties. In most affected individuals, pain and tenderness in the ankles and feet are the first symptoms of the disease. Several years later, broken bones (fractures) begin to occur frequently, particularly in bones of the ankles, feet, wrists, and hands. Bone pain and fractures are caused by thinning of the bones (osteoporosis) and cyst-like changes. These abnormalities weaken bones and make them more likely to break.  The brain abnormalities characteristic of PLOSL typically appear in a person's thirties. Personality changes are among the first noticeable problems, followed by a loss of judgment, feelings of intense happiness (euphoria), a loss of inhibition, and poor concentration. These neurologic changes cause significant problems in an affected person's social and family life. As the disease progresses, it causes a severe decline in thinking and reasoning abilities (dementia). Affected people ultimately become unable to walk, speak, or care for themselves. People with this disease usually live only into their thirties or forties.
Source: GHR
Topic: polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
Question: How many people are affected by polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy ?
Answer: PLOSL is a very rare condition. It was first reported in the Finnish population, where it has an estimated prevalence of 1 to 2 per million people. This condition has also been diagnosed in more than 100 people in the Japanese population. Although affected individuals have been reported worldwide, PLOSL appears to be less common in other countries.
Source: GHR
Topic: polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
Question: What are the genetic changes related to polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy ?
Answer: Mutations in the TREM2 gene or the TYROBP gene (also called DAP12) can cause PLOSL. The proteins produced from these two genes work together to activate certain kinds of cells. These proteins appear to be particularly important in osteoclasts, which are specialized cells that break down and remove (resorb) bone tissue that is no longer needed. These cells are involved in bone remodeling, which is a normal process that replaces old bone tissue with new bone. The TREM2 and TYROBP proteins are also critical for the normal function of microglia, which are a type of immune cell in the brain and spinal cord (central nervous system). Although these proteins play essential roles in osteoclasts and microglia, their exact function in these cells is unclear.  Mutations in the TREM2 or TYROBP gene disrupt normal bone growth and lead to progressive brain abnormalities in people with PLOSL. Researchers believe that the bone changes seen with this disorder are related to malfunctioning osteoclasts, which are less able to resorb bone tissue during bone remodeling. In the central nervous system, TREM2 or TYROBP mutations cause widespread abnormalities of microglia. Researchers are working to determine how these abnormalities lead to the progressive neurological problems associated with PLOSL.
Source: GHR
Topic: polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
Question: Is polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 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.
Source: GHR
Topic: polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
Question: What are the treatments for polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy ?
Answer: These resources address the diagnosis or management of PLOSL:  - Gene Review: Gene Review: Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy (PLOSL)  - Genetic Testing Registry: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy  - MedlinePlus Encyclopedia: Dementia   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
Source: GHR