Abstract

Charcot-Marie-Tooth (CMT) disease (also called hereditary motor and sensory neuropathy; HMSN) is a common disorder of children and adults, with autosomal-dominant, autosomal-recessive, and X-linked modes of inheritance. This chapter discusses the common CMT subtypes in detail, including CMT1A, CMTX, CMT1B, CMT2, and hereditary neuropathy with liability to pressure palsy. Other rare mutations, hereditary motor neuropathies, hereditary sensory and autonomic neuropathies, hereditary sensory neuropathies, and neuropathies with multiorgan disturbance, prominent central nervous system involvement, or specific metabolic dysfunction are reviewed briefly.

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