Reduced quantitative muscle function in tenascin-X deficient Ehlers-Danlos patients

N.C. Voermans, T.M. Altenburg, B.C. Hamel, A. de Haan, B. van Engelen

    Research output: Contribution to JournalArticleAcademicpeer-review

    Abstract

    The Ehlers-Danlos Syndrome (EDS) is a heterogeneous group of heritable connective tissue disorders. Skeletal muscle features belong to the clinical criteria of EDS and are generally interpreted to result from increased tendon distensibility or exercise avoidance. However, muscle function in EDS has hardly been investigated as such. We performed a pilot study consisting of clinical investigations, electromyography, muscle ultrasound, muscle biopsy, and quantitative muscle function tests on two EDS patients with deficiency of tenascin-X. Quantitative muscle function proved severely reduced despite normal findings on electromyography and muscle biopsy. These findings dispute the interpretation of increased tendon distensibility. We hypothesize that alterations in the extracellular matrix modify myofascial force transmission and thus influence muscle function in EDS. © 2007 Elsevier B.V. All rights reserved.
    Original languageEnglish
    Pages (from-to)597-602
    JournalNeuromuscular Disorders
    Volume17
    DOIs
    Publication statusPublished - 2007

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