Diagnostic odyssey of patients with myotonic dystrophy

James E. Hilbert, Tetsuo Ashizawa, John W. Day, Elizabeth A. Luebbe, William B. Martens, Michael P. McDermott, Rabi Tawil, Charles A. Thornton, Richard T. Moxley

Research output: Contribution to journalArticlepeer-review

75 Scopus citations


The onset and symptoms of the myotonic dystrophies are diverse, complicating their diagnoses and limiting a comprehensive approach to their clinical care. This report analyzes the diagnostic delay (time from onset of first symptom to diagnosis) in a large sample of myotonic dystrophy (DM) patients enrolled in the US National Registry [679 DM type 1 (DM1) and 135 DM type 2 (DM2) patients]. Age of onset averaged 34.0 ± 14.1 years in DM2 patients compared to 26.1 ± 13.2 years in DM1 (p < 0.0001). The most common initial symptom in DM2 patients was leg weakness (32.6 %) compared to grip myotonia in DM1 (38.3 %). Pain was reported as the first symptom in 11.1 % of DM2 and 3.0 % of DM1 patients (p < 0.0001). Reaching the correct diagnosis in DM2 took 14 years on average (double the time compared to DM1) and a significantly higher percentage of patients underwent extended workup including electromyography, muscle biopsies, and finally genetic testing. DM patients who were index cases experienced similar diagnostic delays to non-index cases of DM. Further evaluation of how to shorten these diagnostic delays and limit their impact on burdens of disease, family planning, and symptom management is needed.

Original languageEnglish (US)
Pages (from-to)2497-2504
Number of pages8
JournalJournal of Neurology
Issue number10
StatePublished - Oct 2013


  • Clinical care guidelines
  • Facioscapulohumeral muscular dystrophy
  • Muscular dystrophy
  • Myotonic dystrophy
  • Registry

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology


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