Torben Clausen

Muscle phenotype in patients with myotonic dystrophy type 1

Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  • Anne Grete Kielgast Andersen, Aalborg University, Denmark
  • Mette C Orngreen
  • ,
  • Nicolai Rasmus Preisler, Institut for Klinisk Medicin, Denmark
  • Eskild Colding-Jørgensen, Institut for Klinisk Medicin, Denmark
  • Torben Clausen
  • Morten Duno, Denmark
  • Tina D Jeppesen, Denmark
  • John Vissing, Neuro- og Sansefag, Denmark
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, 2012.
Original languageEnglish
JournalMuscle & Nerve
ISSN0148-639X
DOIs
Publication statusPublished - 2012

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