Pain and small fiber function in charcot-marie-tooth disease type 1A

Matilde Laurà, Elspeth J. Hutton, Julian Blake, Michael P. Lunn, Zoe Fox, Davide Pareyson, Alessandra Solari, Davide Radice, Martin Koltzenburg, Mary M. Reilly

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)366-371
Number of pages6
JournalMuscle and Nerve
Issue number3
Publication statusPublished - 2014

ASJC Scopus subject areas

  • Clinical Neurology
  • Cellular and Molecular Neuroscience
  • Physiology (medical)
  • Physiology


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