This report describes general characteristics of the group of diseases classified as Charcot-Marie-Tooth disease (CMT). Charcot-Marie-Tooth disease is a genetically heterogeneous disorder, with multiple implicated genes and mapped loci. A comprehensive list of CMT subtypes, as defined by OMIM (which number 75 to date), can be found by following the link in the "OMIM phenotypic series" section, below. A subset of these may be found in the table below, with links to more detailed reports for subtypes that have been investigated using fly models.
Several diseases designated 'hereditary motor and sensory neuropathy' in OMIM are alternately described as forms of Charcot-Marie-Tooth disease. Typically, OMIM has included these in the Charcot-Marie-Tooth phenotypic series.
[updated May 2019 by FlyBase; FBrf0222196]
Symptoms typically include progressive distal muscle weakness and atrophy, often associated with mild to moderate sensory loss, depressed tendon reflexes, and high-arched feet. [from Gene Reviews, http://www.ncbi.nlm.nih.gov/books/NBK1358 2015.12.15]
Charcot-Marie-Tooth disease (CMT) constitutes a clinically and genetically heterogeneous group of hereditary motor and sensory peripheral neuropathies. CMT is divided into several major types: Type 1 is characterized by demyelination and by a significantly slowed motor median nerve conduction velocity (NCV). Type 2 is characterized by axonal abnormalities and a normal or slightly reduced NCV. "Intermediate" types describe CMT families with nerve conduction velocities, in different affected individuals, that overlap the division between Type 1 and Type 2. Additional types are defined on the basis inheritance patterns. [from MIM:609260 and MIM:606482; 2015.12.15]
Autosomal dominant, autosomal recessive, and X-linked forms have been recognized. Charcot-Marie-Tooth disease is the most common inherited disorder of the peripheral nervous system, affecting approximately 1 in 2500 people (Skre, 1974, pubmed:4430158). [from MIM:118200; 2015.12.15]
