Alphabet soup: making sense of genetic testing in CMT

Semin Neurol. 2010 Sep;30(4):373-86. doi: 10.1055/s-0030-1267281. Epub 2010 Oct 12.


The diagnosis of inherited neuropathies can be challenging in several ways. First, a hereditary neuropathy must be suspected. Although some family histories are clear with multiple members affected, other families require directed inquiry. Second, even when a hereditary neuropathy is clear, it can be difficult to make a genetic characterization. The field of genotyping is expanding so rapidly, it is difficult to know what tests to order. The authors share their guidelines for the diagnosis of inherited neuropathies.

Publication types

  • Review

MeSH terms

  • Charcot-Marie-Tooth Disease / diagnosis*
  • Charcot-Marie-Tooth Disease / genetics*
  • Charcot-Marie-Tooth Disease / physiopathology
  • Diagnosis, Differential
  • Diagnostic Tests, Routine / methods*
  • Diagnostic Tests, Routine / standards*
  • Diagnostic Tests, Routine / trends
  • Genetic Testing / methods*
  • Genetic Testing / standards*
  • Genetic Testing / trends
  • Genotype*
  • Humans