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genetic changes | What are the genetic changes related to Snyder-Robinson syndrome ? | Snyder-Robinson syndrome results from mutations in the SMS gene. This gene provides instructions for making an enzyme called spermine synthase. This enzyme is involved in the production of spermine, which is a type of small molecule called a polyamine. Polyamines have many critical functions within cells. Studies sugge... |
inheritance | Is Snyder-Robinson 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 Snyder-Robinson syndrome ? | These resources address the diagnosis or management of Snyder-Robinson syndrome: - Gene Review: Gene Review: Snyder-Robinson Syndrome - Genetic Testing Registry: Snyder Robinson syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic... |
information | What is (are) thrombotic thrombocytopenic purpura ? | Thrombotic thrombocytopenic purpura is a rare disorder that causes blood clots (thrombi) to form in small blood vessels throughout the body. These clots can cause serious medical problems if they block vessels and restrict blood flow to organs such as the brain, kidneys, and heart. Resulting complications can include n... |
frequency | How many people are affected by thrombotic thrombocytopenic purpura ? | The precise incidence of thrombotic thrombocytopenic purpura is unknown. Researchers estimate that, depending on geographic location, the condition affects 1.7 to 11 per million people each year in the United States. For unknown reasons, the disorder occurs more frequently in women than in men. The acquired form of thr... |
genetic changes | What are the genetic changes related to thrombotic thrombocytopenic purpura ? | Mutations in the ADAMTS13 gene cause the familial form of thrombotic thrombocytopenic purpura. The ADAMTS13 gene provides instructions for making an enzyme that is involved in the normal process of blood clotting. Mutations in this gene lead to a severe reduction in the activity of this enzyme. The acquired form of thr... |
inheritance | Is thrombotic thrombocytopenic purpura inherited ? | The familial form of thrombotic thrombocytopenic purpura 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 s... |
treatment | What are the treatments for thrombotic thrombocytopenic purpura ? | These resources address the diagnosis or management of thrombotic thrombocytopenic purpura: - Genetic Testing Registry: Upshaw-Schulman syndrome - MedlinePlus Encyclopedia: Blood Clots - MedlinePlus Encyclopedia: Hemolytic anemia - MedlinePlus Encyclopedia: Purpura - MedlinePlus Encyclopedia: Thrombocytopenia - M... |
information | What is (are) autosomal dominant hypocalcemia ? | Autosomal dominant hypocalcemia is characterized by low levels of calcium in the blood (hypocalcemia). Affected individuals can have an imbalance of other molecules in the blood as well, including too much phosphate (hyperphosphatemia) or too little magnesium (hypomagnesemia). Some people with autosomal dominant hypoca... |
frequency | How many people are affected by autosomal dominant hypocalcemia ? | The prevalence of autosomal dominant hypocalcemia is unknown. The condition is likely underdiagnosed because it often causes no signs or symptoms. |
genetic changes | What are the genetic changes related to autosomal dominant hypocalcemia ? | Autosomal dominant hypocalcemia is primarily caused by mutations in the CASR gene; these cases are known as type 1. A small percentage of cases, known as type 2, are caused by mutations in the GNA11 gene. The proteins produced from these genes work together to regulate the amount of calcium in the blood. The CASR gene... |
inheritance | Is autosomal dominant hypocalcemia 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. A small number of cases result from new mutations in the gene and occur in people wi... |
treatment | What are the treatments for autosomal dominant hypocalcemia ? | These resources address the diagnosis or management of autosomal dominant hypocalcemia: - Genetic Testing Registry: Autosomal dominant hypocalcemia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Re... |
information | What is (are) progressive supranuclear palsy ? | Progressive supranuclear palsy is a brain disorder that affects movement, vision, speech, and thinking ability (cognition). The signs and symptoms of this disorder usually become apparent in mid- to late adulthood, most often in a person's 60s. Most people with progressive supranuclear palsy survive 5 to 9 years after ... |
frequency | How many people are affected by progressive supranuclear palsy ? | The exact prevalence of progressive supranuclear palsy is unknown. It may affect about 6 in 100,000 people worldwide. |
genetic changes | What are the genetic changes related to progressive supranuclear palsy ? | In most cases, the genetic cause of progressive supranuclear palsy is unknown. Rarely, the disease results from mutations in the MAPT gene. Certain normal variations (polymorphisms) in the MAPT gene have also been associated with an increased risk of developing progressive supranuclear palsy. The MAPT gene provides in... |
inheritance | Is progressive supranuclear palsy inherited ? | Most cases of progressive supranuclear palsy are sporadic, which means they occur in people with no history of the disorder in their family. However, some people with this disorder have had family members with related conditions, such as parkinsonism and a loss of intellectual functions (dementia). When progressive su... |
treatment | What are the treatments for progressive supranuclear palsy ? | These resources address the diagnosis or management of progressive supranuclear palsy: - Gene Review: Gene Review: MAPT-Related Disorders - Genetic Testing Registry: Progressive supranuclear ophthalmoplegia - NHS Choices (UK): Diagnosis of Progressive Supranuclear Palsy - NHS Choices (UK): Treatment of Progressive ... |
information | What is (are) X-linked infantile nystagmus ? | X-linked infantile nystagmus is a condition characterized by abnormal eye movements. Nystagmus is a term that refers to involuntary side-to-side movements of the eyes. In people with this condition, nystagmus is present at birth or develops within the first six months of life. The abnormal eye movements may worsen when... |
frequency | How many people are affected by X-linked infantile nystagmus ? | The incidence of all forms of infantile nystagmus is estimated to be 1 in 5,000 newborns; however, the precise incidence of X-linked infantile nystagmus is unknown. |
genetic changes | What are the genetic changes related to X-linked infantile nystagmus ? | Mutations in the FRMD7 gene cause X-linked infantile nystagmus. The FRMD7 gene provides instructions for making a protein whose exact function is unknown. This protein is found mostly in areas of the brain that control eye movement and in the light-sensitive tissue at the back of the eye (retina). Research suggests tha... |
inheritance | Is X-linked infantile nystagmus inherited ? | This condition is inherited in an X-linked pattern. 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), one altered copy of the gene in each cell is sufficient to cause the... |
treatment | What are the treatments for X-linked infantile nystagmus ? | These resources address the diagnosis or management of X-linked infantile nystagmus: - Gene Review: Gene Review: FRMD7-Related Infantile Nystagmus - Genetic Testing Registry: Infantile nystagmus, X-linked - MedlinePlus Encyclopedia: Nystagmus These resources from MedlinePlus offer information about the diagnosis a... |
information | What is (are) combined malonic and methylmalonic aciduria ? | Combined malonic and methylmalonic aciduria (CMAMMA) is a condition characterized by high levels of certain chemicals, known as malonic acid and methylmalonic acid, in the body. A distinguishing feature of this condition is higher levels of methylmalonic acid than malonic acid in the urine, although both are elevated. ... |
frequency | How many people are affected by combined malonic and methylmalonic aciduria ? | CMAMMA appears to be a rare disease. Approximately a dozen cases have been reported in the scientific literature. |
genetic changes | What are the genetic changes related to combined malonic and methylmalonic aciduria ? | Mutations in the ACSF3 gene cause CMAMMA. This gene provides instructions for making an enzyme that plays a role in the formation (synthesis) of fatty acids. Fatty acids are building blocks used to make fats (lipids). The ACSF3 enzyme performs a chemical reaction that converts malonic acid to malonyl-CoA, which is the ... |
inheritance | Is combined malonic and methylmalonic aciduria 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 combined malonic and methylmalonic aciduria ? | These resources address the diagnosis or management of CMAMMA: - Genetic Testing Registry: Combined malonic and methylmalonic aciduria - Organic Acidemia Association: What are Organic Acidemias? These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Di... |
information | What is (are) hereditary fructose intolerance ? | Hereditary fructose intolerance is a condition that affects a person's ability to digest the sugar fructose. Fructose is a simple sugar found primarily in fruits. Affected individuals develop signs and symptoms of the disorder in infancy when fruits, juices, or other foods containing fructose are introduced into the di... |
frequency | How many people are affected by hereditary fructose intolerance ? | The incidence of hereditary fructose intolerance is estimated to be 1 in 20,000 to 30,000 individuals each year worldwide. |
genetic changes | What are the genetic changes related to hereditary fructose intolerance ? | Mutations in the ALDOB gene cause hereditary fructose intolerance. The ALDOB gene provides instructions for making the aldolase B enzyme. This enzyme is found primarily in the liver and is involved in the breakdown (metabolism) of fructose so this sugar can be used as energy. Aldolase B is responsible for the second st... |
inheritance | Is hereditary fructose intolerance 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 hereditary fructose intolerance ? | These resources address the diagnosis or management of hereditary fructose intolerance: - Boston University: Specifics of Hereditary Fructose Intolerance and Its Diagnosis - Gene Review: Gene Review: Hereditary Fructose Intolerance - Genetic Testing Registry: Hereditary fructosuria - MedlinePlus Encyclopedia: Hered... |
information | What is (are) Greig cephalopolysyndactyly syndrome ? | Greig cephalopolysyndactyly syndrome is a disorder that affects development of the limbs, head, and face. The features of this syndrome are highly variable, ranging from very mild to severe. People with this condition typically have one or more extra fingers or toes (polydactyly) or an abnormally wide thumb or big toe ... |
frequency | How many people are affected by Greig cephalopolysyndactyly syndrome ? | This condition is very rare; its prevalence is unknown. |
genetic changes | What are the genetic changes related to Greig cephalopolysyndactyly syndrome ? | Mutations in the GLI3 gene cause Greig cephalopolysyndactyly syndrome. The GLI3 gene provides instructions for making a protein that controls gene expression, which is a process that regulates whether genes are turned on or off in particular cells. By interacting with certain genes at specific times during development,... |
inheritance | Is Greig cephalopolysyndactyly syndrome inherited ? | This condition is inherited in an autosomal dominant pattern, which means one altered or missing copy of the GLI3 gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits a gene mutation or chromosomal abnormality from one affected parent. Other cases occur in people with no his... |
treatment | What are the treatments for Greig cephalopolysyndactyly syndrome ? | These resources address the diagnosis or management of Greig cephalopolysyndactyly syndrome: - Gene Review: Gene Review: Greig Cephalopolysyndactyly Syndrome - Genetic Testing Registry: Greig cephalopolysyndactyly syndrome - MedlinePlus Encyclopedia: Polydactyly - MedlinePlus Encyclopedia: Syndactyly (image) Thes... |
information | What is (are) D-bifunctional protein deficiency ? | D-bifunctional protein deficiency is a disorder that causes deterioration of nervous system functions (neurodegeneration) beginning in infancy. Newborns with D-bifunctional protein deficiency have weak muscle tone (hypotonia) and seizures. Most babies with this condition never acquire any developmental skills. Some may... |
frequency | How many people are affected by D-bifunctional protein deficiency ? | D-bifunctional protein deficiency is estimated to affect 1 in 100,000 newborns. |
genetic changes | What are the genetic changes related to D-bifunctional protein deficiency ? | D-bifunctional protein deficiency is caused by mutations in the HSD17B4 gene. The protein produced from this gene (D-bifunctional protein) is an enzyme, which means that it helps specific biochemical reactions to take place. The D-bifunctional protein is found in sac-like cell structures (organelles) called peroxisomes... |
inheritance | Is D-bifunctional protein 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 D-bifunctional protein deficiency ? | These resources address the diagnosis or management of D-bifunctional protein deficiency: - Gene Review: Gene Review: Leukodystrophy Overview - Genetic Testing Registry: Bifunctional peroxisomal enzyme deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health... |
information | What is (are) ornithine translocase deficiency ? | Ornithine translocase deficiency is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia. Ornithine translocase defici... |
frequency | How many people are affected by ornithine translocase deficiency ? | Ornithine translocase deficiency is a very rare disorder. Fewer than 100 affected individuals have been reported worldwide. |
genetic changes | What are the genetic changes related to ornithine translocase deficiency ? | Mutations in the SLC25A15 gene cause ornithine translocase deficiency. Ornithine translocase deficiency belongs to a class of genetic diseases called urea cycle disorders. The urea cycle is a sequence of reactions that occurs in liver cells. This cycle processes excess nitrogen, generated when protein is used by the b... |
inheritance | Is ornithine translocase 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 ornithine translocase deficiency ? | These resources address the diagnosis or management of ornithine translocase deficiency: - Baby's First Test - Gene Review: Gene Review: Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome - Gene Review: Gene Review: Urea Cycle Disorders Overview - Genetic Testing Registry: Hyperornithinemia-hyperammonemia-... |
information | What is (are) X-linked lymphoproliferative disease ? | X-linked lymphoproliferative disease (XLP) is a disorder of the immune system and blood-forming cells that is found almost exclusively in males. More than half of individuals with this disorder experience an exaggerated immune response to the Epstein-Barr virus (EBV). EBV is a very common virus that eventually infects ... |
frequency | How many people are affected by X-linked lymphoproliferative disease ? | XLP1 is estimated to occur in about 1 per million males worldwide. XLP2 is less common, occurring in about 1 per 5 million males. |
genetic changes | What are the genetic changes related to X-linked lymphoproliferative disease ? | Mutations in the SH2D1A and XIAP genes cause XLP. SH2D1A gene mutations cause XLP1, and XIAP gene mutations cause XLP2. The SH2D1A gene provides instructions for making a protein called signaling lymphocyte activation molecule (SLAM) associated protein (SAP). This protein is involved in the functioning of lymphocytes ... |
inheritance | Is X-linked lymphoproliferative disease inherited ? | This condition is generally inherited in an X-linked recessive pattern. The genes associated with this condition are 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 an associated gene in each cell is sufficient to cause the condition. ... |
treatment | What are the treatments for X-linked lymphoproliferative disease ? | These resources address the diagnosis or management of XLP: - Children's Hospital of Philadelphia - Gene Review: Gene Review: Lymphoproliferative Disease, X-Linked - Genetic Testing Registry: Lymphoproliferative syndrome 1, X-linked - Genetic Testing Registry: Lymphoproliferative syndrome 2, X-linked - MedlinePlus... |
information | What is (are) metatropic dysplasia ? | Metatropic dysplasia is a skeletal disorder characterized by short stature (dwarfism) with other skeletal abnormalities. The term "metatropic" is derived from the Greek word "metatropos," which means "changing patterns." This name reflects the fact that the skeletal abnormalities associated with the condition change ov... |
frequency | How many people are affected by metatropic dysplasia ? | Metatropic dysplasia is a rare disease; its exact prevalence is unknown. More than 80 affected individuals have been reported in the scientific literature. |
genetic changes | What are the genetic changes related to metatropic dysplasia ? | Metatropic dysplasia is caused by mutations in the TRPV4 gene, which provides instructions for making a protein that acts as a calcium channel. The TRPV4 channel transports positively charged calcium atoms (calcium ions) across cell membranes and into cells. The channel is found in many types of cells, but little is kn... |
inheritance | Is metatropic dysplasia inherited ? | Metatropic dysplasia is considered an autosomal dominant disorder because one mutated copy of the TRPV4 gene in each cell is sufficient to cause the condition. Most cases of metatropic dysplasia are caused by new mutations in the gene and occur in people with no history of the disorder in their family. In a few reporte... |
treatment | What are the treatments for metatropic dysplasia ? | These resources address the diagnosis or management of metatropic dysplasia: - Gene Review: Gene Review: TRPV4-Associated Disorders - Genetic Testing Registry: Metatrophic dysplasia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Test... |
information | What is (are) DOLK-congenital disorder of glycosylation ? | DOLK-congenital disorder of glycosylation (DOLK-CDG, formerly known as congenital disorder of glycosylation type Im) is an inherited condition that often affects the heart but can also involve other body systems. The pattern and severity of this disorder's signs and symptoms vary among affected individuals. Individual... |
frequency | How many people are affected by DOLK-congenital disorder of glycosylation ? | DOLK-CDG is likely a rare condition; at least 18 cases have been reported in the scientific literature. |
genetic changes | What are the genetic changes related to DOLK-congenital disorder of glycosylation ? | DOLK-CDG is caused by mutations in the DOLK gene. This gene provides instructions for making the enzyme dolichol kinase, which facilitates the final step of the production of a compound called dolichol phosphate. This compound is critical for a process called glycosylation, which attaches groups of sugar molecules (oli... |
inheritance | Is DOLK-congenital disorder of glycosylation 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 DOLK-congenital disorder of glycosylation ? | These resources address the diagnosis or management of DOLK-CDG: - Gene Review: Gene Review: Congenital Disorders of N-Linked Glycosylation Pathway Overview - Genetic Testing Registry: Congenital disorder of glycosylation type 1M - MedlinePlus Encyclopedia: Dilated Cardiomyopathy These resources from MedlinePlus o... |
information | What is (are) Li-Fraumeni syndrome ? | Li-Fraumeni syndrome is a rare disorder that greatly increases the risk of developing several types of cancer, particularly in children and young adults. The cancers most often associated with Li-Fraumeni syndrome include breast cancer, a form of bone cancer called osteosarcoma, and cancers of soft tissues (such as mu... |
frequency | How many people are affected by Li-Fraumeni syndrome ? | The exact prevalence of Li-Fraumeni is unknown. One U.S. registry of Li-Fraumeni syndrome patients suggests that about 400 people from 64 families have this disorder. |
genetic changes | What are the genetic changes related to Li-Fraumeni syndrome ? | The CHEK2 and TP53 genes are associated with Li-Fraumeni syndrome. More than half of all families with Li-Fraumeni syndrome have inherited mutations in the TP53 gene. TP53 is a tumor suppressor gene, which means that it normally helps control the growth and division of cells. Mutations in this gene can allow cells to ... |
inheritance | Is Li-Fraumeni syndrome inherited ? | Li-Fraumeni syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to increase the risk of developing cancer. In most cases, an affected person has a parent and other family members with cancers characteristic of the condition. |
treatment | What are the treatments for Li-Fraumeni syndrome ? | These resources address the diagnosis or management of Li-Fraumeni syndrome: - Gene Review: Gene Review: Li-Fraumeni Syndrome - Genetic Testing Registry: Li-Fraumeni syndrome - Genetic Testing Registry: Li-Fraumeni syndrome 1 - Genetic Testing Registry: Li-Fraumeni syndrome 2 - MedlinePlus Encyclopedia: Cancer - ... |
information | What is (are) CASK-related intellectual disability ? | CASK-related intellectual disability is a disorder of brain development that has two main forms: microcephaly with pontine and cerebellar hypoplasia (MICPCH), and X-linked intellectual disability (XL-ID) with or without nystagmus. Within each of these forms, males typically have more severe signs and symptoms than do f... |
frequency | How many people are affected by CASK-related intellectual disability ? | The prevalence of CASK-related intellectual disability is unknown. More than 50 females with MICPCH have been described in the medical literature, while only a few affected males have been described. By contrast, more than 20 males but only a few females have been diagnosed with the milder form of the disorder, XL-ID ... |
genetic changes | What are the genetic changes related to CASK-related intellectual disability ? | CASK-related intellectual disability, as its name suggests, is caused by mutations in the CASK gene. This gene provides instructions for making a protein called calcium/calmodulin-dependent serine protein kinase (CASK). The CASK protein is primarily found in nerve cells (neurons) in the brain, where it helps control th... |
inheritance | Is CASK-related intellectual disability inherited ? | This condition is inherited in an X-linked pattern. 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 females, who have two copies of the X chromosome, one altered copy of the gene in each cell is sufficient to... |
treatment | What are the treatments for CASK-related intellectual disability ? | These resources address the diagnosis or management of CASK-related intellectual disability: - Gene Review: Gene Review: CASK-Related Disorders - Genetic Testing Registry: Mental retardation and microcephaly with pontine and cerebellar hypoplasia These resources from MedlinePlus offer information about the diagnosi... |
information | What is (are) facioscapulohumeral muscular dystrophy ? | Facioscapulohumeral muscular dystrophy is a disorder characterized by muscle weakness and wasting (atrophy). This condition gets its name from the muscles that are affected most often: those of the face (facio-), around the shoulder blades (scapulo-), and in the upper arms (humeral). The signs and symptoms of facioscap... |
frequency | How many people are affected by facioscapulohumeral muscular dystrophy ? | Facioscapulohumeral muscular dystrophy has an estimated prevalence of 1 in 20,000 people. About 95 percent of all cases are FSHD1; the remaining 5 percent are FSHD2. |
genetic changes | What are the genetic changes related to facioscapulohumeral muscular dystrophy ? | Facioscapulohumeral muscular dystrophy is caused by genetic changes involving the long (q) arm of chromosome 4. Both types of the disease result from changes in a region of DNA near the end of the chromosome known as D4Z4. This region consists of 11 to more than 100 repeated segments, each of which is about 3,300 DNA b... |
inheritance | Is facioscapulohumeral muscular dystrophy inherited ? | FSHD1 is inherited in an autosomal dominant pattern, which means one copy of the shortened D4Z4 region on a "permissive" chromosome 4 is sufficient to cause the disorder. In most cases, an affected person inherits the altered chromosome from one affected parent. Other people with FSHD1 have no history of the disorder i... |
treatment | What are the treatments for facioscapulohumeral muscular dystrophy ? | These resources address the diagnosis or management of facioscapulohumeral muscular dystrophy: - Gene Review: Gene Review: Facioscapulohumeral Muscular Dystrophy - Genetic Testing Registry: Facioscapulohumeral muscular dystrophy - Genetic Testing Registry: Facioscapulohumeral muscular dystrophy 2 - MedlinePlus Ency... |
information | What is (are) paramyotonia congenita ? | Paramyotonia congenita is a disorder that affects muscles used for movement (skeletal muscles). Beginning in infancy or early childhood, people with this condition experience bouts of sustained muscle tensing (myotonia) that prevent muscles from relaxing normally. Myotonia causes muscle stiffness that typically appears... |
frequency | How many people are affected by paramyotonia congenita ? | Paramyotonia congenita is an uncommon disorder; it is estimated to affect fewer than 1 in 100,000 people. |
genetic changes | What are the genetic changes related to paramyotonia congenita ? | Mutations in the SCN4A gene cause paramyotonia congenita. This gene provides instructions for making a protein that is critical for the normal function of skeletal muscle cells. For the body to move normally, skeletal muscles must tense (contract) and relax in a coordinated way. Muscle contractions are triggered by the... |
inheritance | Is paramyotonia congenita 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 many cases, an affected person has one parent with the condition. |
treatment | What are the treatments for paramyotonia congenita ? | These resources address the diagnosis or management of paramyotonia congenita: - Genetic Testing Registry: Paramyotonia congenita of von Eulenburg - Periodic Paralysis International: How is Periodic Paralysis Diagnosed? These resources from MedlinePlus offer information about the diagnosis and management of various... |
information | What is (are) Bowen-Conradi syndrome ? | Bowen-Conradi syndrome is a disorder that affects many parts of the body and is usually fatal in infancy. Affected individuals have a low birth weight, experience feeding problems, and grow very slowly. Their head is unusually small overall (microcephaly), but is longer than expected compared with its width (dolichocep... |
frequency | How many people are affected by Bowen-Conradi syndrome ? | Bowen-Conradi syndrome is common in the Hutterite population in Canada and the United States; it occurs in approximately 1 per 355 newborns in all three Hutterite sects (leuts). A few individuals from outside the Hutterite community with signs and symptoms similar to Bowen-Conradi syndrome have been described in the me... |
genetic changes | What are the genetic changes related to Bowen-Conradi syndrome ? | Bowen-Conradi syndrome is caused by a mutation in the EMG1 gene. This gene provides instructions for making a protein that is involved in the production of cellular structures called ribosomes, which process the cell's genetic instructions to create new proteins. Ribosomes are assembled in a cell compartment called the... |
inheritance | Is Bowen-Conradi 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 Bowen-Conradi syndrome ? | These resources address the diagnosis or management of Bowen-Conradi syndrome: - Genetic Testing Registry: Bowen-Conradi syndrome - MedlinePlus Encyclopedia: Feeding Tube--Infants These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests ... |
information | What is (are) Paget disease of bone ? | Paget disease of bone is a disorder that causes bones to grow larger and weaker than normal. Affected bones may be misshapen and easily broken (fractured). The classic form of Paget disease of bone typically appears in middle age or later. It usually occurs in one or a few bones and does not spread from one bone to an... |
frequency | How many people are affected by Paget disease of bone ? | Classic Paget disease of bone occurs in approximately 1 percent of people older than 40 in the United States. Scientists estimate that about 1 million people in this country have the disease. It is most common in people of western European heritage. Early-onset Paget disease of bone is much rarer. This form of the dis... |
genetic changes | What are the genetic changes related to Paget disease of bone ? | A combination of genetic and environmental factors likely play a role in causing Paget disease of bone. Researchers have identified changes in several genes that increase the risk of the disorder. Other factors, including infections with certain viruses, may be involved in triggering the disease in people who are at ri... |
inheritance | Is Paget disease of bone inherited ? | In 15 to 40 percent of all cases of classic Paget disease of bone, the disorder has an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means that having one copy of an altered gene in each cell is sufficient to cause the disorder. In the remaining cases, the inheritance pattern of classic Pag... |
treatment | What are the treatments for Paget disease of bone ? | These resources address the diagnosis or management of Paget disease of bone: - Genetic Testing Registry: Osteitis deformans - Genetic Testing Registry: Paget disease of bone 4 - Genetic Testing Registry: Paget disease of bone, familial - MedlinePlus Encyclopedia: Paget's Disease of the Bone These resources from ... |
information | What is (are) mycosis fungoides ? | Mycosis fungoides is the most common form of a type of blood cancer called cutaneous T-cell lymphoma. Cutaneous T-cell lymphomas occur when certain white blood cells, called T cells, become cancerous; these cancers characteristically affect the skin, causing different types of skin lesions. Although the skin is involve... |
frequency | How many people are affected by mycosis fungoides ? | Mycosis fungoides occurs in about 1 in 100,000 to 350,000 individuals. It accounts for approximately 70 percent of cutaneous T-cell lymphomas. For unknown reasons, mycosis fungoides affects males nearly twice as often as females. In the United States, there are an estimated 3.6 cases per million people each year. The c... |
genetic changes | What are the genetic changes related to mycosis fungoides ? | The cause of mycosis fungoides is unknown. Most affected individuals have one or more chromosomal abnormalities, such as the loss or gain of genetic material. These abnormalities occur during a person's lifetime and are found only in the DNA of cancerous cells. Abnormalities have been found on most chromosomes, but som... |
inheritance | Is mycosis fungoides inherited ? | The inheritance pattern of mycosis fungoides has not been determined. Although the condition has been found in multiple members of more than a dozen families, it most often occurs in people with no history of the disorder in their family and is typically not inherited. |
treatment | What are the treatments for mycosis fungoides ? | These resources address the diagnosis or management of mycosis fungoides: - Cancer Research UK: Treatments for Cutaneous T-Cell Lymphoma - Genetic Testing Registry: Mycosis fungoides - Lymphoma Research Foundation: Cutaneous T-Cell Lymphoma Treatment Options - National Cancer Institute: Mycosis Fungoides and the Sz... |
information | What is (are) distal hereditary motor neuropathy, type V ? | Distal hereditary motor neuropathy, type V is a progressive disorder that affects nerve cells in the spinal cord. It results in muscle weakness and affects movement of the hands and feet. Symptoms of distal hereditary motor neuropathy, type V usually begin during adolescence, but onset varies from infancy to the mid-t... |
frequency | How many people are affected by distal hereditary motor neuropathy, type V ? | The incidence of distal hereditary motor neuropathy, type V is unknown. Only a small number of cases have been reported. |
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