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Diagnostic odyssey of patients with myotonic dystrophy

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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.

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Acknowledgments

In memory of Shannon Lord, whose insight and passion contributed to the content of this paper and who as a patient advocate, was an influential advisor of the NIH sponsored National Registry of Myotonic Dystrophy and FSHD Patients and Family Members. Shannon made important contributions to patients with myotonic dystrophy, their family members, and the entire research community for over 20 years. She created the Hunter Fund for myotonic dystrophy; catalyzed the creation of the Myotonic Dystrophy Foundation, serving as its founding chair; and was a pivotal member of the Registry’s Scientific Advisory Committee. Her “odyssey” and passion to improve the care of patients with myotonic dystrophy will continue to inspire our hearts, minds, and research. The Registry is supported through the National Institute of Arthritis and Musculoskeletal and Skin Diseases and the National Institute of Neurological Disorders and Stroke (NIH Senator Paul D. Wellstone Muscular Dystrophy Cooperative Research Center grant #U54-NS048843 and NIH contracts #N01-AR-5-2274 and #NO1-AR-0-2250).

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On behalf of all authors, the corresponding author states that there is no conflict of interest.

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Correspondence to James E. Hilbert.

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The Registry Scientific Advisory Committee members are given in “Appendix”.

Appendix

Appendix

Internal Steering Committee Members: Principal Investigator: Richard T. Moxley, III, MD; Co-investigators: Michael P. McDermott, PhD; Rabi Tawil, MD; and Charles A. Thornton, MD; University of Rochester Medical Center, Rochester, NY.

Scientific Advisory Committee Members: Tetsuo Ashizawa, University of Florida; Richard J. Barohn, University of Kansas; Paula R. Clemens, University of Pittsburgh; P. Michael Conneally, Indiana University; John W. Day, Stanford University; Denise A. Figlewicz, University of Western Ontario; Jacqueline M. Jackson, Indiana University; John T. Kissel, Ohio State University; Shannon Lord, Patient Advocate; Katherine D. Mathews, University of Iowa; Donald B. Sanders, Duke University; Stephen J. Tapscott, University of Washington.

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Hilbert, J.E., Ashizawa, T., Day, J.W. et al. Diagnostic odyssey of patients with myotonic dystrophy. J Neurol 260, 2497–2504 (2013). https://doi.org/10.1007/s00415-013-6993-0

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