Charcot-Marie-Tooth Disease Dominant Intermediate 2

Common Name(s)

Charcot-Marie-Tooth Disease Dominant Intermediate 2

Charcot-Marie-Tooth disease is a clinically and genetically heterogeneous disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. CMT neuropathy is subdivided into CMT1 (see {118200}) and CMT2 (see {118210}) types on the basis of electrophysiologic and neuropathologic criteria. CMT1 is a demyelinating neuropathy, whereas CMT2 is an axonal neuropathy. Most patients with CMT are classified as having CMT1 or CMT2 by use of a cut-off value of 38 m/s for the motor median nerve conduction velocity (NCV). However, in some families with CMT, patients have motor median NCVs ranging from 25 to 45 m/s. {1:Davis et al. (1978)} proposed that this form be designated 'intermediate' CMT. For a phenotypic description and a discussion of genetic heterogeneity of dominant intermediate CMT neuropathy, see CMTDIB ({606482}).
 

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Condition Specific Organizations

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Scientific Literature

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