What is the role of nerve biopsy in the workup of Charcot-Marie-Tooth (CMT) disease?

Updated: Feb 19, 2019
  • Author: Francisco de Assis Aquino Gondim, MD, PhD, MSc, FAAN; Chief Editor: Nicholas Lorenzo, MD, MHA, CPE  more...
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Interpreting histologic studies from the era prior to the modern genetic classification is difficult. Some autopsy studies reported demyelination and sclerosis of the dorsal column, which was more severe in the cervical fasciculus gracilis, and atrophy of anterior horn cells. With the advent of genetic testing, muscle and nerve biopsy are now rarely performed for diagnostic purpose. Most nerve biopsies from patients with CMT1 show evidence of a hypertrophic demyelinating neuropathy with onion bulbs as evidence of chronic remyelination and loss of myelinated fibers, preferentially those of large diameter.

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