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Muscle phenotype in patients with myotonic dystrophy type 1

Authors


  • Disclosure: Eskild Colding-J⊘rgensen is presently employed by the pharmaceutical company H. Lundbeck A/S.

Neuromuscular Research Unit, Department of Neurology 3342, Rigshospitalet Blegdamsvej 9, DK-2100 Copenhagen, Denmark. E-mail: grete.andersen@rh.dk

Abstract

Introduction: The pathogenesis of muscle involvement in patients with myotonic dystrophy type 1 (DM1) is not well understood. In this study, we characterized the muscle phenotype in patients with confirmed DM1. Methods: In 38 patients, muscle strength was tested by hand-held dynamometry. Myotonia was evaluated by a handgrip test and by analyzing the decrement of the compound muscle action potential. Muscle biopsies were assessed for morphological changes and Na+-K+ pump content. Results: Muscle strength correlated with a decline in Na+-K+ pump content (r = 0.60, P < 0.001) and with CTG expansion. CTG expansion did not correlate with severity of myotonia, proximal histopathological changes, or Na+-K+ pump content. Histopathologically, we found few centrally placed nuclei (range 0.2–6.9%). Conclusions: The main findings of this study are that muscle weakness correlated inversely with CTG expansion and that central nuclei are not a prominent feature of proximal muscles in DM1. Muscle Nerve 47:409-415, 2013

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