Pain and small fiber function in Charcot-Marie-Tooth disease type 1A

Muscle Nerve. 2014 Sep;50(3):366-71. doi: 10.1002/mus.24169. Epub 2014 May 15.

Abstract

Introduction: Charcot-Marie-Tooth (CMT) disease type 1A is the most common form of CMT. The main clinical features are distal weakness, sensory loss, and skeletal deformities. Although pain is a frequent complaint, small fiber involvement in CMT1A has not been studied extensively.

Methods: We assessed pain and small fiber involvement in 49 CMT1A patients using a variety of pain scales, pain questionnaires, and thermal thresholds.

Results: Forty-three of 49 patients (88%) complained of pain. The pain was localized to the feet in 61% of patients. Only 18% of patients had neuropathic pain. Cold and warm detection thresholds were elevated in 53% and 12% of patients, respectively.

Conclusions: Our findings confirm that CMT1A patients have significant pain, which is more likely to be multifactorial in origin and suggests that a proportion of patients have small fiber dysfunction affecting mainly thinly myelinated Aδ fibers.

Keywords: Charcot-Marie-Tooth; PMP22; pain; small fiber; thermal thresholds.

Publication types

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

MeSH terms

  • Adult
  • Charcot-Marie-Tooth Disease / complications*
  • Charcot-Marie-Tooth Disease / pathology*
  • Cohort Studies
  • Cold Temperature
  • Confidence Intervals
  • Female
  • Hot Temperature
  • Humans
  • Male
  • Middle Aged
  • Nerve Fibers / pathology*
  • Pain / etiology*
  • Pain Measurement
  • Pain Threshold
  • Surveys and Questionnaires
  • Thermosensing / physiology
  • Young Adult