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Charcot-Marie-Tooth disease: Genetics, clinical features, and diagnosis

Peter B Kang, MD, FAAP, FAAN
Section Editors
Douglas R Nordli, Jr, MD
Helen V Firth, DM, FRCP, DCH
Jeremy M Shefner, MD, PhD
Deputy Editor
John F Dashe, MD, PhD


The hereditary peripheral neuropathies have been classified based upon clinical characteristics, mode of inheritance, electrophysiologic features, metabolic defects, and specific genetic markers. The primary hereditary neuropathies predominantly affect peripheral nerves and produce symptoms of peripheral nerve dysfunction.

Historically, the primary hereditary neuropathies were designated by eponyms that had the connotation of specific clinical features (eg, Charcot-Marie-Tooth disease [CMT] or Dejerine-Sottas disease). However, phenotypic variability resulted in substantial diagnostic confusion.

The Dyck classification developed in the 1970s helped to define specific types based upon clinical and electrophysiologic features [1]. Many of the primary hereditary neuropathies were divided into hereditary motor sensory neuropathy (HMSN) and hereditary sensory autonomic neuropathy (HSAN). However, the eponym Charcot-Marie-Tooth disease has had a resurgence in popularity, and today the term "CMT" is regarded as being synonymous with HMSN.

CMT/HMSN is the focus of the current review and for the sake of simplicity will be referred to as CMT for the remainder of this review. This topic will review the genetics, clinical features, and evaluation of CMT. Management and prognosis are reviewed separately. (See "Charcot-Marie-Tooth disease: Management and prognosis".)

The primary hereditary sensory autonomic neuropathies (HSAN), the neuropathies not included in this classification, and the disorders affecting both the central and peripheral nervous systems are discussed elsewhere. (See "Overview of hereditary neuropathies" and "Hereditary sensory and autonomic neuropathies" and "Neuropathies associated with hereditary disorders".)

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Literature review current through: Nov 2017. | This topic last updated: Oct 30, 2017.
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