Which nerve biopsy findings are characteristic of Charcot-Marie-Tooth (CMT) disease type 2?

Updated: Feb 19, 2019
  • Author: Francisco de Assis Aquino Gondim, MD, MSc, PhD, FAAN; Chief Editor: Nicholas Lorenzo, MD, MHA, CPE  more...
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Answer

Answer

Sural nerve pathology usually reveals reduced numbers of myelinated axons, especially the larger ones. Rare myelin changes can be observed, none on teased fibers. CMT2B biopsies reveal evidence of degeneration and regeneration, with the presence of occasional onion bulbs.


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