Charcot-Marie-Tooth disease, type 2A1

Common Name(s)

Charcot-Marie-Tooth disease, type 2A1

Charcot-Marie-Tooth disease constitutes a clinically and genetically heterogeneous group of hereditary motor and sensory neuropathies. On the basis of electrophysiologic criteria, CMT is divided into 2 major types: type 1, the demyelinating form, characterized by a slow motor median nerve conduction velocity (NCV) (less than 38 m/s), and type 2, the axonal form, with a normal or slightly reduced NCV. Distal hereditary motor neuropathy (dHMN), also known as spinal CMT, is a third type of CMT characterized by normal motor and sensory NCV and degeneration of spinal cord anterior horn cells. See CMT1B ({118200}) and CMT1A ({118220}) for descriptions of autosomal dominant slow nerve conduction types of Charcot-Marie-Tooth disease. See CMT4A ({214400}) and CMTX1 ({302800}) for autosomal recessive and X-linked forms of Charcot-Marie-Tooth disease, respectively. Several forms of axonal CMT neuropathies caused by mutations in different genes or at different loci have been described, including CMT2B ({600882}), CMT2B1 ({605588}), CMT2B2 ({605589}), CMT2C ({606071}), CMT2D ({601472}), CMT2E ({607684}), CMT2F ({606595}), CMT2G ({608591}), CMT2H ({607731}), CMT2I ({607677}), CMT2J ({607736}), CMT2K ({607831}), CMT2L ({608673}), CMT2M (see {606482}), CMT2N ({613287}), CMT2O ({614228}), CMT2P ({614436}), CMT2Q ({615025}), and CMT2R ({615490}).
 

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Condition Specific Organizations

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Scientific Literature

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Symptoms, Diagnosis, and Treatment

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