Charcot-Marie-Tooth Disease

Research output: Chapter in Book/Report/Conference proceedingChapter


Mutations in more than 35 human genes cause inherited peripheral nerve diseases that are collectively called Charcot-Marie-Tooth disease (CMT). CMT with a prevalence of 1 out of 2500 people is among the most common inherited neurological disorders. A majority of patients with CMT present with chronic distal muscle weakness, sensory loss in feet and hands, and foot deformities that result in disabilities. Clinical similarities among patients demand molecular and genetic tools to reach a precise diagnosis. In this article, the authors will review the clinical, electrodiagnostic, genetic, and pathological features of CMT.

Original languageEnglish (US)
Title of host publicationEncyclopedia of the Neurological Sciences
Number of pages8
ISBN (Electronic)9780123851574
ISBN (Print)9780123851581
StatePublished - Jan 1 2014


  • Axonal degeneration
  • Charcot-Marie-Tooth disease
  • Demyelination
  • DNA testing
  • Dysmyelination
  • Genetic testing
  • Genetics
  • Mitofusin-2
  • MPZ
  • Nerve conduction study
  • Neuropathy
  • PMP22
  • Sural nerve biopsy

ASJC Scopus subject areas

  • Medicine(all)


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