Abstract

With a prevalence of 1 in 2500 people, inherited peripheral nerve diseases, collectively called Charcot-Marie-Tooth disease (CMT), are among the most common inherited neurologic disorders. Patients with CMT typically present with chronic muscle weakness and atrophy in limbs, sensory loss in the feet and hands, and foot deformities. Clinical similarities between patients often require genetic testing to achieve a precise diagnosis. In this article, the author reviews the clinical and pathologic features of CMT, and demonstrates how electrodiagnostic and genetic tools are used to assist in the diagnosis and symptomatic management of the diseases. Several cases are presented to illustrate the diagnostic processes.

Original languageEnglish (US)
Pages (from-to)204-214
Number of pages11
JournalSeminars in Neurology
Volume32
Issue number3
DOIs
StatePublished - 2012

Keywords

  • axonal degeneration
  • Charcot-Marie-Tooth disease
  • demyelination
  • DNA testing
  • dysmyelination
  • genetics
  • mitofusin-2
  • MPZ
  • nerve conduction study
  • neuropathy
  • PMP22
  • sural nerve biopsy

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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