Question: How many people are affected by Charcot-Marie-Tooth disease ?
Answer: Charcot-Marie-Tooth disease is the most common inherited disorder that involves the peripheral nerves, affecting an estimated 150,000 people in the United States. It occurs in populations worldwide with a prevalence of about 1 in 2,500 individuals.
Source: GHR

Question: What are the genetic changes related to Charcot-Marie-Tooth disease ?
Answer: Charcot-Marie-Tooth disease is caused by mutations in many different genes. These genes provide instructions for making proteins that are involved in the function of peripheral nerves in the feet, legs, and hands. The gene mutations that cause Charcot-Marie-Tooth disease affect the function of the proteins in ways that are not fully understood; however, they likely impair axons, which transmit nerve impulses, or affect the specialized cells that produce myelin. As a result, peripheral nerve cells slowly lose the ability to stimulate the muscles and to transmit sensory signals to the brain. The list of genes associated with Charcot-Marie-Tooth disease continues to grow as researchers study this disorder. Different mutations within a particular gene may cause signs and symptoms of differing severities or lead to different types of Charcot-Marie-Tooth disease. CMT1 is caused by mutations in the following genes: PMP22 (CMT1A and CMT1E), MPZ (CMT1B), LITAF (CMT1C), EGR2 (CMT1D), and NEFL (CMT1F). CMT2 can result from alterations in many genes, including MFN2 and KIF1B (CMT2A); RAB7A (CMT2B); LMNA (CMT2B1); TRPV4 (CMT2C); BSCL2 and GARS (CMT2D); NEFL (CMT2E); HSPB1 (CMT2F); MPZ (CMT2I and CMT2J); GDAP1 (CMT2K); and HSPB8 (CMT2L). Certain DNM2 gene mutations also cause a form of CMT2. CMT4 is caused by mutations in the following genes: GDAP1 (CMT4A), MTMR2 (CMT4B1), SBF2 (CMT4B2), SH3TC2 (CMT4C), NDRG1 (CMT4D), EGR2 (CMT4E), PRX (CMT4F), FGD4 (CMT4H), and FIG4 (CMT4J). Intermediate forms of the disorder can be caused by alterations in genes including DNM2, MPZ, YARS, and GDAP1. CMTX is caused by mutations in genes including GJB1 (CMTX1) and PRPS1 (CMTX5). Mutations in additional genes, some of which have not been identified, also cause various forms of Charcot-Marie-Tooth disease.
Source: GHR

Question: Is Charcot-Marie-Tooth disease inherited ?
Answer: The pattern of inheritance varies with the type of Charcot-Marie-Tooth disease. CMT1, most cases of CMT2, and most intermediate forms are inherited in an autosomal dominant pattern. This pattern of inheritance means that one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one affected parent. CMT4, a few CMT2 subtypes, and some intermediate forms are 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. CMTX is inherited in an X-linked dominant pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome. The inheritance is dominant if one copy of the altered gene is sufficient to cause the condition. In most cases, affected males, who have the alteration on their only copy of the X chromosome, experience more severe symptoms of the disorder than females, who have two X chromosomes. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. All daughters of affected men will have one altered X chromosome, but they may only have mild symptoms of the disorder. Some cases of Charcot-Marie-Tooth disease result from a new mutation and occur in people with no history of the disorder in their family.
Source: GHR

Question: What are the treatments for Charcot-Marie-Tooth disease ?
Answer: These resources address the diagnosis or management of Charcot-Marie-Tooth disease: - Gene Review: Gene Review: Charcot-Marie-Tooth Hereditary Neuropathy Overview - Gene Review: Gene Review: Charcot-Marie-Tooth Neuropathy Type 1 - Gene Review: Gene Review: Charcot-Marie-Tooth Neuropathy Type 2 - Gene Review: Gene Review: Charcot-Marie-Tooth Neuropathy Type 2A - Gene Review: Gene Review: Charcot-Marie-Tooth Neuropathy Type 2E/1F - Gene Review: Gene Review: Charcot-Marie-Tooth Neuropathy Type 4 - Gene Review: Gene Review: Charcot-Marie-Tooth Neuropathy Type 4A - Gene Review: Gene Review: Charcot-Marie-Tooth Neuropathy Type 4C - Gene Review: Gene Review: Charcot-Marie-Tooth Neuropathy X Type 1 - Gene Review: Gene Review: Charcot-Marie-Tooth Neuropathy X Type 5 - Gene Review: Gene Review: DNM2-Related Intermediate Charcot-Marie-Tooth Neuropathy - Gene Review: Gene Review: GARS-Associated Axonal Neuropathy - Gene Review: Gene Review: TRPV4-Associated Disorders - Genetic Testing Registry: Charcot-Marie-Tooth disease - Genetic Testing Registry: Charcot-Marie-Tooth disease dominant intermediate 3 - Genetic Testing Registry: Charcot-Marie-Tooth disease type 1B - Genetic Testing Registry: Charcot-Marie-Tooth disease type 2B - Genetic Testing Registry: Charcot-Marie-Tooth disease type 2B1 - Genetic Testing Registry: Charcot-Marie-Tooth disease type 2B2 - Genetic Testing Registry: Charcot-Marie-Tooth disease type 2C - Genetic Testing Registry: Charcot-Marie-Tooth disease type 2D - Genetic Testing Registry: Charcot-Marie-Tooth disease type 2E - Genetic Testing Registry: Charcot-Marie-Tooth disease type 2F - Genetic Testing Registry: Charcot-Marie-Tooth disease type 2I - Genetic Testing Registry: Charcot-Marie-Tooth disease type 2J - Genetic Testing Registry: Charcot-Marie-Tooth disease type 2K - Genetic Testing Registry: Charcot-Marie-Tooth disease type 2P - Genetic Testing Registry: Charcot-Marie-Tooth disease, X-linked recessive, type 5 - Genetic Testing Registry: Charcot-Marie-Tooth disease, axonal, type 2O - Genetic Testing Registry: Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive - Genetic Testing Registry: Charcot-Marie-Tooth disease, dominant intermediate C - Genetic Testing Registry: Charcot-Marie-Tooth disease, dominant intermediate E - Genetic Testing Registry: Charcot-Marie-Tooth disease, recessive intermediate A - Genetic Testing Registry: Charcot-Marie-Tooth disease, type 1C - Genetic Testing Registry: Charcot-Marie-Tooth disease, type 2A1 - Genetic Testing Registry: Charcot-Marie-Tooth disease, type 2A2 - Genetic Testing Registry: Charcot-Marie-Tooth disease, type 2L - Genetic Testing Registry: Charcot-Marie-Tooth disease, type 2N - Genetic Testing Registry: Charcot-Marie-Tooth disease, type 4A - Genetic Testing Registry: Charcot-Marie-Tooth disease, type 4B1 - Genetic Testing Registry: Charcot-Marie-Tooth disease, type 4B2 - Genetic Testing Registry: Charcot-Marie-Tooth disease, type 4C - Genetic Testing Registry: Charcot-Marie-Tooth disease, type 4D - Genetic Testing Registry: Charcot-Marie-Tooth disease, type 4H - Genetic Testing Registry: Charcot-Marie-Tooth disease, type 4J - Genetic Testing Registry: Charcot-Marie-Tooth disease, type I - Genetic Testing Registry: Charcot-Marie-Tooth disease, type IA - Genetic Testing Registry: Charcot-Marie-Tooth disease, type ID - Genetic Testing Registry: Charcot-Marie-Tooth disease, type IE - Genetic Testing Registry: Charcot-Marie-Tooth disease, type IF - Genetic Testing Registry: Congenital hypomyelinating neuropathy - Genetic Testing Registry: DNM2-related intermediate Charcot-Marie-Tooth neuropathy - Genetic Testing Registry: Dejerine-Sottas disease - Genetic Testing Registry: Roussy-Lvy syndrome - Genetic Testing Registry: X-linked hereditary motor and sensory neuropathy - MedlinePlus Encyclopedia: Charcot-Marie-Tooth Disease - MedlinePlus Encyclopedia: Hammer Toe - MedlinePlus Encyclopedia: High Arch 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