Inherited peripheral neuropathies

Mario A. Saporta, Michael E. Shy

Research output: Contribution to journalReview articlepeer-review

61 Scopus citations

Abstract

Charcot-Marie-Tooth (CMT) disease is a heterogeneous group of inherited peripheral neuropathies in which the neuropathy is the sole or primary component of the disorder, as opposed to diseases in which the neuropathy is part of a more generalized neurologic or multisystem syndrome. Because of the great genetic heterogeneity of this condition, it can be challenging for the general neurologist to diagnose patients with specific types of CMT. This article reviews the biology of the inherited peripheral neuropathies, delineates major phenotypic features of the CMT subtypes, and suggest strategies for focusing genetic testing.

Original languageEnglish (US)
Pages (from-to)597-619
Number of pages23
JournalNeurologic Clinics
Volume31
Issue number2
DOIs
StatePublished - May 2013

Keywords

  • Charcot-Marie-Tooth
  • Genetic testing
  • Inherited neuropathy

ASJC Scopus subject areas

  • Clinical Neurology

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