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J Neurol. 2013 Oct;260(10):2497-504. doi: 10.1007/s00415-013-6993-0. Epub 2013 Jun 27.

Diagnostic odyssey of patients with myotonic dystrophy.

Author information

1
Department of Neurology, University of Rochester Medical Center, 601 Elmwood Ave, Box 673, Rochester, NY, 14642, USA, james_hilbert@urmc.rochester.edu.

Abstract

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.

PMID:
23807151
PMCID:
PMC4162528
DOI:
10.1007/s00415-013-6993-0
[Indexed for MEDLINE]
Free PMC Article

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