Molecular diagnostics of Charcot-Marie-Tooth disease and related peripheral neuropathies

Neuromolecular Med. 2006;8(1-2):243-54. doi: 10.1385/nmm:8:1-2:243.


DNA diagnostics plays an important role in the characterization and management of patients manifesting inherited peripheral neuropathies. We describe the clinical integration of molecular diagnostics with medical history, physical examination, and electrophysiological studies. Molecular testing can help establish a secure diagnosis, enable genetic counseling regarding recurrence risk, potentially provide prognostic information, and in the near future may be important for the choice of therapies.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Age of Onset
  • Charcot-Marie-Tooth Disease / diagnosis*
  • Charcot-Marie-Tooth Disease / epidemiology
  • Charcot-Marie-Tooth Disease / genetics*
  • Charcot-Marie-Tooth Disease / physiopathology
  • Electrophysiology
  • Evidence-Based Medicine
  • Genetic Counseling
  • Humans
  • Molecular Diagnostic Techniques*
  • Mutation
  • Peripheral Nervous System Diseases / diagnosis*
  • Peripheral Nervous System Diseases / epidemiology
  • Peripheral Nervous System Diseases / genetics*
  • Peripheral Nervous System Diseases / physiopathology
  • Phenotype