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ORIGINAL RESEARCH article

Front. Neurol.
Sec. Neuromuscular Disorders and Peripheral Neuropathies
Volume 15 - 2024 | doi: 10.3389/fneur.2024.1414140
This article is part of the Research Topic Age and sex differences in myotonic disorders and periodic paralysis View all 3 articles

Characterization of the neuropathic pain component contributing to myalgia in patients with myotonic dystrophy type 1 and 2

Provisionally accepted
Viviane C. Schmitt Viviane C. Schmitt 1*Petra Baeumler Petra Baeumler 2Anne Schänzer Anne Schänzer 3Dominik Irnich Dominik Irnich 2Benedikt Schoser Benedikt Schoser 1Federica Montagnese Federica Montagnese 1
  • 1 Friedrich Baur Institute, LMU Munich University Hospital, Munich, Germany
  • 2 Other, Munich, Germany
  • 3 Institute of Pathology, Justus Liebig University Giessen, Giessen, Germany

The final, formatted version of the article will be published soon.

    Chronic muscle pain is common in myotonic dystrophies (DM). Little is known about its pathophysiology. We aimed to investigate whether a neuropathic pain component contributes to the pathogenesis of chronic pain in DM. Methods: Twenty-one DM1 and 32 DM2 patients completed pain questionnaires (Brief pain inventory–BPI, PAIN-DETECT, pain disability index–PDI) and underwent neurological examination, nerve conduction studies (NCS), quantitative sensory testing (QST, dorsum of the right hand and right thigh), and skin biopsy to determine the intraepidermal nerve fiber density (IENFD, distal and a proximal site of lower extremity). NCS and QST results at the thigh were compared to 27 healthy controls and IENFD and QST at the dorsum of the hand to published reference values. The sensory profile of DM2 patients was characterized by a loss in thermal and mechanical detection, while DM1 patients showed reduced mechanical and heat pain thresholds and higher mechanical pain sensitivity. Both DM groups showed pressure hyperalgesia. IENFD was reduced in 63% of DM1 patients and 50% of DM2. The slightly higher pain interference and disability found in DM2 was rather due to age difference than disease. Conclusion: Similar pain mechanisms likely occur in both DM1 and DM2, even though a tendency towards more pain sensitivity was observed in DM1 and more sensory loss in DM2. Both QST and reduced IENFD highlight the presence of peripheral nerve damage in DM. This must be considered for the best pain management strategies.

    Keywords: Myotonic Dystrophy, Myalgia, quantitative sensory testing, Pain, Small fiber neuropathy

    Received: 08 Apr 2024; Accepted: 29 Jul 2024.

    Copyright: © 2024 Schmitt, Baeumler, Schänzer, Irnich, Schoser and Montagnese. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence: Viviane C. Schmitt, Friedrich Baur Institute, LMU Munich University Hospital, Munich, Germany

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