• Muscle & nerve · Sep 2014

    Randomized Controlled Trial

    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, and Mary M Reilly.
    • MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK.
    • Muscle Nerve. 2014 Sep 1; 50 (3): 366-71.

    IntroductionCharcot-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.MethodsWe assessed pain and small fiber involvement in 49 CMT1A patients using a variety of pain scales, pain questionnaires, and thermal thresholds.ResultsForty-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.ConclusionsOur 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.Copyright © 2014 Wiley Periodicals, Inc.

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