qtype stringclasses 16
values | Question stringlengths 16 191 | Answer stringlengths 6 29k |
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genetic changes | What are the genetic changes related to LAMA2-related muscular dystrophy ? | As its name suggests, LAMA2-related muscular dystrophy is caused by mutations in the LAMA2 gene. This gene provides instructions for making a part (subunit) of certain members of a protein family called laminins. Laminin proteins are made of three different subunits called alpha, beta, and gamma. There are several form... |
inheritance | Is LAMA2-related muscular dystrophy 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. |
treatment | What are the treatments for LAMA2-related muscular dystrophy ? | These resources address the diagnosis or management of LAMA2-related muscular dystrophy: - Boston Children's Hospital: Treatment and Care for Muscular Dystrophy - Gene Review: Gene Review: LAMA2-Related Muscular Dystrophy - Genetic Testing Registry: Congenital muscular dystrophy due to partial LAMA2 deficiency - Ge... |
information | What is (are) mandibulofacial dysostosis with microcephaly ? | Mandibulofacial dysostosis with microcephaly (MFDM) is a disorder that causes abnormalities of the head and face. People with this disorder often have an unusually small head at birth, and the head does not grow at the same rate as the rest of the body, so it appears that the head is getting smaller as the body grows (... |
frequency | How many people are affected by mandibulofacial dysostosis with microcephaly ? | MFDM is a rare disorder; its exact prevalence is unknown. More than 60 affected individuals have been described in the medical literature. |
genetic changes | What are the genetic changes related to mandibulofacial dysostosis with microcephaly ? | MFDM is caused by mutations in the EFTUD2 gene. This gene provides instructions for making one part (subunit) of two complexes called the major and minor spliceosomes. Spliceosomes help process messenger RNA (mRNA), which is a chemical cousin of DNA that serves as a genetic blueprint for making proteins. The spliceosom... |
inheritance | Is mandibulofacial dysostosis with microcephaly 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. Most cases result from new mutations in the gene and occur in people with no history of the disorder in their family. In other cases, an affected person inherits the m... |
treatment | What are the treatments for mandibulofacial dysostosis with microcephaly ? | These resources address the diagnosis or management of MFDM: - Gene Review: Gene Review: Mandibulofacial Dysostosis with Microcephaly - Genetic Testing Registry: Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate These resources from MedlinePlus offer information about the dia... |
information | What is (are) Guillain-Barr syndrome ? | Guillain-Barr syndrome is an autoimmune disorder that affects the nerves. Autoimmune disorders occur when the immune system malfunctions and attacks the body's own tissues and organs. In Guillain-Barr syndrome, the immune response damages peripheral nerves, which are the nerves that connect the central nervous system (... |
frequency | How many people are affected by Guillain-Barr syndrome ? | The prevalence of Guillain-Barr syndrome is estimated to be 6 to 40 cases per 1 million people. The occurrence of the different types of Guillain-Barr syndrome varies across regions. AIDP is the most common type in North America and Europe, accounting for approximately 90 percent of cases of Guillain-Barr syndrome in t... |
genetic changes | What are the genetic changes related to Guillain-Barr syndrome ? | Some studies show that normal variations in certain genes may be associated with an increased risk of developing Guillain-Barr syndrome; however, more research is necessary to identify and confirm associated genes. Many of the genes that may increase the risk of Guillain-Barr syndrome are involved in the immune system,... |
inheritance | Is Guillain-Barr syndrome inherited ? | Almost all cases of Guillain-Barr syndrome are sporadic, which means they occur in people with no history of the condition in their family. A few families with more than one affected family member have been described; however, the condition does not have a clear pattern of inheritance. Multiple genetic and environmenta... |
treatment | What are the treatments for Guillain-Barr syndrome ? | These resources address the diagnosis or management of Guillain-Barr syndrome: - Genetic Testing Registry: Guillain-Barre syndrome, familial - National Institute of Neurological Disorders and Stroke: Guillain-Barr Syndrome Fact Sheet These resources from MedlinePlus offer information about the diagnosis and managem... |
information | What is (are) cystic fibrosis ? | Cystic fibrosis is an inherited disease characterized by the buildup of thick, sticky mucus that can damage many of the body's organs. The disorder's most common signs and symptoms include progressive damage to the respiratory system and chronic digestive system problems. The features of the disorder and their severity... |
frequency | How many people are affected by cystic fibrosis ? | Cystic fibrosis is a common genetic disease within the white population in the United States. The disease occurs in 1 in 2,500 to 3,500 white newborns. Cystic fibrosis is less common in other ethnic groups, affecting about 1 in 17,000 African Americans and 1 in 31,000 Asian Americans. |
genetic changes | What are the genetic changes related to cystic fibrosis ? | Mutations in the CFTR gene cause cystic fibrosis. The CFTR gene provides instructions for making a channel that transports negatively charged particles called chloride ions into and out of cells. Chloride is a component of sodium chloride, a common salt found in sweat. Chloride also has important functions in cells; fo... |
inheritance | Is cystic fibrosis 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. |
treatment | What are the treatments for cystic fibrosis ? | These resources address the diagnosis or management of cystic fibrosis: - American Society for Reproductive Medicine: Male Infertility - Baby's First Test - Gene Review: Gene Review: CFTR-Related Disorders - Genetic Testing Registry: Cystic fibrosis - Genomics Education Programme (UK) - MedlinePlus Encyclopedia: ... |
information | What is (are) juvenile polyposis syndrome ? | Juvenile polyposis syndrome is a disorder characterized by multiple noncancerous (benign) growths called juvenile polyps. People with juvenile polyposis syndrome typically develop polyps before age 20; however, in the name of this condition "juvenile" refers to the characteristics of the tissues that make up the polyp,... |
frequency | How many people are affected by juvenile polyposis syndrome ? | Juvenile polyposis syndrome occurs in approximately 1 in 100,000 individuals worldwide. |
genetic changes | What are the genetic changes related to juvenile polyposis syndrome ? | Mutations in the BMPR1A and SMAD4 genes cause juvenile polyposis syndrome. These genes provide instructions for making proteins that are involved in transmitting chemical signals from the cell membrane to the nucleus. This type of signaling pathway allows the environment outside the cell to affect how the cell produces... |
inheritance | Is juvenile polyposis syndrome inherited ? | Juvenile polyposis syndrome 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 75 percent of cases, an affected person inherits the mutation from one affected parent. The remaining 25 percent of cases result from ne... |
treatment | What are the treatments for juvenile polyposis syndrome ? | These resources address the diagnosis or management of juvenile polyposis syndrome: - Gene Review: Gene Review: Juvenile Polyposis Syndrome - Genetic Testing Registry: Juvenile polyposis syndrome - MedlinePlus Encyclopedia: Colorectal Polyps These resources from MedlinePlus offer information about the diagnosis an... |
information | What is (are) 22q11.2 duplication ? | 22q11.2 duplication is a condition caused by an extra copy of a small piece of chromosome 22. The duplication occurs near the middle of the chromosome at a location designated q11.2. The features of this condition vary widely, even among members of the same family. Affected individuals may have developmental delay, in... |
frequency | How many people are affected by 22q11.2 duplication ? | The prevalence of the 22q11.2 duplication in the general population is difficult to determine. Because many individuals with this duplication have no associated symptoms, their duplication may never be detected. Most people tested for the 22q11.2 duplication have come to medical attention as a result of developmental ... |
genetic changes | What are the genetic changes related to 22q11.2 duplication ? | People with 22q11.2 duplication have an extra copy of some genetic material at position q11.2 on chromosome 22. In most cases, this extra genetic material consists of a sequence of about 3 million DNA building blocks (base pairs), also written as 3 megabases (Mb). The 3 Mb duplicated region contains 30 to 40 genes. Fo... |
inheritance | Is 22q11.2 duplication inherited ? | The inheritance of 22q11.2 duplication is considered autosomal dominant because the duplication affects one of the two copies of chromosome 22 in each cell. About 70 percent of affected individuals inherit the duplication from a parent. In other cases, the duplication is not inherited and instead occurs as a random eve... |
treatment | What are the treatments for 22q11.2 duplication ? | These resources address the diagnosis or management of 22q11.2 duplication: - Gene Review: Gene Review: 22q11.2 Duplication - Genetic Testing Registry: 22q11.2 duplication syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests... |
information | What is (are) Barth syndrome ? | Barth syndrome is a rare condition characterized by an enlarged and weakened heart (dilated cardiomyopathy), weakness in muscles used for movement (skeletal myopathy), recurrent infections due to small numbers of white blood cells (neutropenia), and short stature. Barth syndrome occurs almost exclusively in males. In ... |
frequency | How many people are affected by Barth syndrome ? | Barth syndrome is estimated to affect 1 in 300,000 to 400,000 individuals worldwide. More than 150 cases have been described in the scientific literature. |
genetic changes | What are the genetic changes related to Barth syndrome ? | Mutations in the TAZ gene cause Barth syndrome. The TAZ gene provides instructions for making a protein called tafazzin. Tafazzin is located in structures called mitochondria, which are the energy-producing centers of cells. Tafazzin is involved in altering a fat (lipid) called cardiolipin, which plays critical roles i... |
inheritance | Is Barth syndrome inherited ? | This condition 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 t... |
treatment | What are the treatments for Barth syndrome ? | These resources address the diagnosis or management of Barth syndrome: - Cleveland Clinic: Dilated Cardiomyopathy - Gene Review: Gene Review: Barth Syndrome - Genetic Testing Registry: 3-Methylglutaconic aciduria type 2 - Johns Hopkins Children's Center: Neutrophil Disorders - MedlinePlus Encyclopedia: Neutropenia... |
information | What is (are) Moebius syndrome ? | Moebius syndrome is a rare neurological condition that primarily affects the muscles that control facial expression and eye movement. The signs and symptoms of this condition are present from birth. Weakness or paralysis of the facial muscles is one of the most common features of Moebius syndrome. Affected individuals... |
frequency | How many people are affected by Moebius syndrome ? | The exact incidence of Moebius syndrome is unknown. Researchers estimate that the condition affects 1 in 50,000 to 1 in 500,000 newborns. |
genetic changes | What are the genetic changes related to Moebius syndrome ? | The causes of Moebius syndrome are unknown, although the condition probably results from a combination of environmental and genetic factors. Researchers are working to identify and describe specific genes related to this condition. The disorder appears to be associated with changes in particular regions of chromosomes ... |
inheritance | Is Moebius syndrome inherited ? | Most cases of Moebius syndrome are sporadic, which means they occur in people with no history of the disorder in their family. A small percentage of all cases have been reported to run in families; however, the condition does not have a single clear pattern of inheritance. |
treatment | What are the treatments for Moebius syndrome ? | These resources address the diagnosis or management of Moebius syndrome: - Boston Children's Hospital - Cleveland Clinic - Genetic Testing Registry: Oromandibular-limb hypogenesis spectrum - Swedish Information Centre for Rare Diseases: Diagnosis and Treatment These resources from MedlinePlus offer information ab... |
information | What is (are) adult-onset leukoencephalopathy with axonal spheroids and pigmented glia ? | Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a neurological condition characterized by changes to certain areas of the brain. A hallmark of ALSP is leukoencephalopathy, which is the alteration of a type of brain tissue called white matter. White matter consists of nerve fibers (axo... |
frequency | How many people are affected by adult-onset leukoencephalopathy with axonal spheroids and pigmented glia ? | ALSP is thought to be a rare disorder, although the prevalence is unknown. Because it can be mistaken for other disorders with similar symptoms, ALSP may be underdiagnosed. |
genetic changes | What are the genetic changes related to adult-onset leukoencephalopathy with axonal spheroids and pigmented glia ? | ALSP is caused by mutations in the CSF1R gene. This gene provides instructions for making a protein called colony stimulating factor 1 receptor (CSF-1 receptor), which is found in the outer membrane of certain types of cells, including glial cells. The CSF-1 receptor triggers signaling pathways that control many import... |
inheritance | Is adult-onset leukoencephalopathy with axonal spheroids and pigmented glia 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 inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no histor... |
treatment | What are the treatments for adult-onset leukoencephalopathy with axonal spheroids and pigmented glia ? | These resources address the diagnosis or management of ALSP: - Gene Review: Gene Review: Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia - Genetic Testing Registry: Hereditary diffuse leukoencephalopathy with spheroids - MedlinePlus Encyclopedia: Dementia These resources from MedlinePlus o... |
information | What is (are) Y chromosome infertility ? | Y chromosome infertility is a condition that affects the production of sperm, making it difficult or impossible for affected men to father children. An affected man's body may produce no sperm cells (azoospermia), a smaller than usual number of sperm cells (oligospermia), or sperm cells that are abnormally shaped or th... |
frequency | How many people are affected by Y chromosome infertility ? | Y chromosome infertility occurs in approximately 1 in 2,000 to 1 in 3,000 males of all ethnic groups. This condition accounts for between 5 percent and 10 percent of cases of azoospermia or severe oligospermia. |
genetic changes | What are the genetic changes related to Y chromosome infertility ? | As its name suggests, this form of infertility is caused by changes in the Y chromosome. People normally have 46 chromosomes in each cell. Two of the 46 chromosomes are sex chromosomes, called X and Y. Females have two X chromosomes (46,XX), and males have one X chromosome and one Y chromosome (46,XY). Because only mal... |
inheritance | Is Y chromosome infertility inherited ? | Because Y chromosome infertility impedes the ability to father children, this condition is usually caused by new deletions on the Y chromosome and occurs in men with no history of the disorder in their family. When men with Y chromosome infertility do father children, either naturally or with the aid of assisted reprod... |
treatment | What are the treatments for Y chromosome infertility ? | These resources address the diagnosis or management of Y chromosome infertility: - Gene Review: Gene Review: Y Chromosome Infertility - Genetic Testing Registry: Spermatogenic failure, Y-linked 2 - Genetic Testing Registry: Spermatogenic failure, Y-linked, 1 - MedlinePlus Encyclopedia: Semen Analysis These resour... |
information | What is (are) Larsen syndrome ? | Larsen syndrome is a disorder that affects the development of bones throughout the body. The signs and symptoms of Larsen syndrome vary widely even within the same family. Affected individuals are usually born with inward- and upward-turning feet (clubfeet) and dislocations of the hips, knees, and elbows. They generall... |
frequency | How many people are affected by Larsen syndrome ? | Larsen syndrome occurs in approximately 1 in 100,000 newborns. |
genetic changes | What are the genetic changes related to Larsen syndrome ? | Mutations in the FLNB gene cause Larsen syndrome. The FLNB gene provides instructions for making a protein called filamin B. This protein helps build the network of protein filaments (cytoskeleton) that gives structure to cells and allows them to change shape and move. Filamin B attaches (binds) to another protein call... |
inheritance | Is Larsen 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 some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history... |
treatment | What are the treatments for Larsen syndrome ? | These resources address the diagnosis or management of Larsen syndrome: - Gene Review: Gene Review: FLNB-Related Disorders - Genetic Testing Registry: Larsen syndrome - Genetic Testing Registry: Larsen syndrome, dominant type These resources from MedlinePlus offer information about the diagnosis and management of ... |
information | What is (are) hyperprolinemia ? | Hyperprolinemia is an excess of a particular protein building block (amino acid), called proline, in the blood. This condition generally occurs when proline is not broken down properly by the body. There are two inherited forms of hyperprolinemia, called type I and type II. People with hyperprolinemia type I often do ... |
frequency | How many people are affected by hyperprolinemia ? | It is difficult to determine the prevalence of hyperprolinemia type I because most people with the condition do not have any symptoms. Hyperprolinemia type II is a rare condition; its prevalence is also unknown. |
genetic changes | What are the genetic changes related to hyperprolinemia ? | Mutations in the ALDH4A1 and PRODH genes cause hyperprolinemia. Inherited hyperprolinemia is caused by deficiencies in the enzymes that break down (degrade) proline. Hyperprolinemia type I is caused by a mutation in the PRODH gene, which provides instructions for producing the enzyme proline oxidase. This enzyme begin... |
inheritance | Is hyperprolinemia inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition. In about one-third ... |
treatment | What are the treatments for hyperprolinemia ? | These resources address the diagnosis or management of hyperprolinemia: - Baby's First Test - Genetic Testing Registry: Deficiency of pyrroline-5-carboxylate reductase - Genetic Testing Registry: Proline dehydrogenase deficiency These resources from MedlinePlus offer information about the diagnosis and management ... |
information | What is (are) atelosteogenesis type 1 ? | Atelosteogenesis type 1 is a disorder that affects the development of bones throughout the body. Affected individuals are born with inward- and upward-turning feet (clubfeet) and dislocations of the hips, knees, and elbows. Bones in the spine, rib cage, pelvis, and limbs may be underdeveloped or in some cases absent. A... |
frequency | How many people are affected by atelosteogenesis type 1 ? | Atelosteogenesis type 1 is a rare disorder; its exact prevalence is unknown. Only a few dozen affected individuals have been identified. |
genetic changes | What are the genetic changes related to atelosteogenesis type 1 ? | Mutations in the FLNB gene cause atelosteogenesis type 1. The FLNB gene provides instructions for making a protein called filamin B. This protein helps build the network of protein filaments (cytoskeleton) that gives structure to cells and allows them to change shape and move. Filamin B attaches (binds) to another prot... |
inheritance | Is atelosteogenesis type 1 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. Almost all cases result from new mutations in the gene and occur in people with no history of the disorder in their family. |
treatment | What are the treatments for atelosteogenesis type 1 ? | These resources address the diagnosis or management of atelosteogenesis type 1: - Gene Review: Gene Review: FLNB-Related Disorders - Genetic Testing Registry: Atelosteogenesis type 1 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tes... |
information | What is (are) Wolf-Hirschhorn syndrome ? | Wolf-Hirschhorn syndrome is a condition that affects many parts of the body. The major features of this disorder include a characteristic facial appearance, delayed growth and development, intellectual disability, and seizures. Almost everyone with this disorder has distinctive facial features, including a broad, flat... |
frequency | How many people are affected by Wolf-Hirschhorn syndrome ? | The prevalence of Wolf-Hirschhorn syndrome is estimated to be 1 in 50,000 births. However, this may be an underestimate because it is likely that some affected individuals are never diagnosed. For unknown reasons, Wolf-Hirschhorn syndrome occurs in about twice as many females as males. |
genetic changes | What are the genetic changes related to Wolf-Hirschhorn syndrome ? | Wolf-Hirschhorn syndrome is caused by a deletion of genetic material near the end of the short (p) arm of chromosome 4. This chromosomal change is sometimes written as 4p-. The size of the deletion varies among affected individuals; studies suggest that larger deletions tend to result in more severe intellectual disabi... |
inheritance | Is Wolf-Hirschhorn syndrome inherited ? | Between 85 and 90 percent of all cases of Wolf-Hirschhorn syndrome are not inherited. They result from a chromosomal deletion that occurs as a random (de novo) event during the formation of reproductive cells (eggs or sperm) or in early embryonic development. More complex chromosomal rearrangements can also occur as de... |
treatment | What are the treatments for Wolf-Hirschhorn syndrome ? | These resources address the diagnosis or management of Wolf-Hirschhorn syndrome: - Gene Review: Gene Review: Wolf-Hirschhorn Syndrome - Genetic Testing Registry: 4p partial monosomy syndrome - MedlinePlus Encyclopedia: Epilepsy These resources from MedlinePlus offer information about the diagnosis and management o... |
information | What is (are) Sandhoff disease ? | Sandhoff disease is a rare inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. The most common and severe form of Sandhoff disease becomes apparent in infancy. Infants with this disorder typically appear normal until the age of 3 to 6 months, when their development slows ... |
frequency | How many people are affected by Sandhoff disease ? | Sandhoff disease is a rare disorder; its frequency varies among populations. This condition appears to be more common in the Creole population of northern Argentina; the Metis Indians in Saskatchewan, Canada; and people from Lebanon. |
genetic changes | What are the genetic changes related to Sandhoff disease ? | Mutations in the HEXB gene cause Sandhoff disease. The HEXB gene provides instructions for making a protein that is part of two critical enzymes in the nervous system, beta-hexosaminidase A and beta-hexosaminidase B. These enzymes are located in lysosomes, which are structures in cells that break down toxic substances ... |
inheritance | Is Sandhoff disease 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. |
treatment | What are the treatments for Sandhoff disease ? | These resources address the diagnosis or management of Sandhoff disease: - Genetic Testing Registry: Sandhoff disease These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counse... |
information | What is (are) alpha-methylacyl-CoA racemase deficiency ? | Alpha-methylacyl-CoA racemase (AMACR) deficiency is a disorder that causes a variety of neurological problems that begin in adulthood and slowly get worse. People with AMACR deficiency may have a gradual loss in intellectual functioning (cognitive decline), seizures, and migraines. They may also have acute episodes of ... |
frequency | How many people are affected by alpha-methylacyl-CoA racemase deficiency ? | AMACR deficiency is a rare disorder. Its prevalence is unknown. At least 10 cases have been described in the medical literature. |
genetic changes | What are the genetic changes related to alpha-methylacyl-CoA racemase deficiency ? | AMACR deficiency is caused by mutations in the AMACR gene. This gene provides instructions for making an enzyme called alpha-methylacyl-CoA racemase (AMACR). The AMACR enzyme is found in the energy-producing centers in cells (mitochondria) and in cell structures called peroxisomes. Peroxisomes contain a variety of enz... |
inheritance | Is alpha-methylacyl-CoA racemase 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. |
treatment | What are the treatments for alpha-methylacyl-CoA racemase deficiency ? | These resources address the diagnosis or management of AMACR deficiency: - Genetic Testing Registry: Alpha-methylacyl-CoA racemase deficiency - Kennedy Krieger Institute: Peroxisomal Diseases These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagn... |
information | What is (are) hereditary hyperekplexia ? | Hereditary hyperekplexia is a condition in which affected infants have increased muscle tone (hypertonia) and an exaggerated startle reaction to unexpected stimuli, especially loud noises. Following the startle reaction, infants experience a brief period in which they are very rigid and unable to move. During these rig... |
frequency | How many people are affected by hereditary hyperekplexia ? | The exact prevalence of hereditary hyperekplexia is unknown. This condition has been identified in more than 70 families worldwide. |
genetic changes | What are the genetic changes related to hereditary hyperekplexia ? | At least five genes are associated with hereditary hyperekplexia. Most of these genes provide instructions for producing proteins that are found in nerve cells (neurons). They play a role in how neurons respond to a molecule called glycine. This molecule acts as a neurotransmitter, which is a chemical messenger that tr... |
inheritance | Is hereditary hyperekplexia inherited ? | Hereditary hyperekplexia has different inheritance patterns. This condition can be inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases may res... |
treatment | What are the treatments for hereditary hyperekplexia ? | These resources address the diagnosis or management of hereditary hyperekplexia: - Gene Review: Gene Review: Hyperekplexia - Genetic Testing Registry: Early infantile epileptic encephalopathy 8 - Genetic Testing Registry: Hyperekplexia hereditary These resources from MedlinePlus offer information about the diagnos... |
information | What is (are) MECP2-related severe neonatal encephalopathy ? | MECP2-related severe neonatal encephalopathy is a neurological disorder that primarily affects males and causes brain dysfunction (encephalopathy). Affected males have a small head size (microcephaly), poor muscle tone (hypotonia) in infancy, movement disorders, rigidity, and seizures. Infants with this condition appea... |
frequency | How many people are affected by MECP2-related severe neonatal encephalopathy ? | MECP2-related severe neonatal encephalopathy is likely a rare condition. Twenty to 30 affected males have been reported in the scientific literature. |
genetic changes | What are the genetic changes related to MECP2-related severe neonatal encephalopathy ? | Mutations in the MECP2 gene cause MECP2-related severe neonatal encephalopathy. The MECP2 gene provides instructions for making a protein called MeCP2 that is critical for normal brain function. Researchers believe that this protein has several functions, including regulating other genes in the brain by switching them ... |
inheritance | Is MECP2-related severe neonatal encephalopathy inherited ? | MECP2-related severe neonatal encephalopathy has an X-linked pattern of inheritance. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes in each cell. In males, who have only one X chromosome, a mutation in the only copy of the g... |
treatment | What are the treatments for MECP2-related severe neonatal encephalopathy ? | These resources address the diagnosis or management of MECP2-related severe neonatal encephalopathy: - Cincinnati Children's Hospital: MECP2-Related Disorders - Gene Review: Gene Review: MECP2-Related Disorders - Genetic Testing Registry: Severe neonatal-onset encephalopathy with microcephaly - Johns Hopkins Childr... |
information | What is (are) Andermann syndrome ? | Andermann syndrome is a disorder that damages the nerves used for muscle movement and sensation (motor and sensory neuropathy). Absence (agenesis) or malformation of the tissue connecting the left and right halves of the brain (corpus callosum) also occurs in most people with this disorder. People affected by Anderman... |
frequency | How many people are affected by Andermann syndrome ? | Andermann syndrome is most often seen in the French-Canadian population of the Saguenay-Lac-St.-Jean and Charlevoix regions of northeastern Quebec. In this population, Andermann syndrome occurs in almost 1 in 2,000 newborns. Only a few individuals with this disorder have been identified in other regions of the world. |
genetic changes | What are the genetic changes related to Andermann syndrome ? | Mutations in the SLC12A6 gene cause Andermann syndrome. The SLC12A6 gene provides instructions for making a protein called a K-Cl cotransporter. This protein is involved in moving charged atoms (ions) of potassium (K) and chlorine (Cl) across the cell membrane. The positively charged potassium ions and negatively charg... |
inheritance | Is Andermann syndrome 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. |
treatment | What are the treatments for Andermann syndrome ? | These resources address the diagnosis or management of Andermann syndrome: - Gene Review: Gene Review: Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum - Genetic Testing Registry: Andermann syndrome These resources from MedlinePlus offer information about the diagnosis and management of ... |
information | What is (are) congenital myasthenic syndrome ? | Congenital myasthenic syndrome is a group of conditions characterized by muscle weakness (myasthenia) that worsens with physical exertion. The muscle weakness typically begins in early childhood but can also appear in adolescence or adulthood. Facial muscles, including muscles that control the eyelids, muscles that mov... |
frequency | How many people are affected by congenital myasthenic syndrome ? | The prevalence of congenital myasthenic syndrome is unknown. At least 600 families with affected individuals have been described in the scientific literature. |
genetic changes | What are the genetic changes related to congenital myasthenic syndrome ? | Mutations in many genes can cause congenital myasthenic syndrome. Mutations in the CHRNE gene are responsible for more than half of all cases. A large number of cases are also caused by mutations in the RAPSN, CHAT, COLQ, and DOK7 genes. All of these genes provide instructions for producing proteins that are involved i... |
inheritance | Is congenital myasthenic syndrome inherited ? | This condition is most commonly 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. R... |
treatment | What are the treatments for congenital myasthenic syndrome ? | These resources address the diagnosis or management of congenital myasthenic syndrome: - Gene Review: Gene Review: Congenital Myasthenic Syndromes - Genetic Testing Registry: CHRNA1-Related Congenital Myasthenic Syndrome - Genetic Testing Registry: Congenital myasthenic syndrome - Genetic Testing Registry: Congenit... |
information | What is (are) cherubism ? | Cherubism is a disorder characterized by abnormal bone tissue in the lower part of the face. Beginning in early childhood, both the lower jaw (the mandible) and the upper jaw (the maxilla) become enlarged as bone is replaced with painless, cyst-like growths. These growths give the cheeks a swollen, rounded appearance a... |
frequency | How many people are affected by cherubism ? | The incidence of cherubism is unknown. At least 250 cases have been reported worldwide. |
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