Myotonic Dystrophy Foundation

Healthcare utilization and costs in myotonic dystrophy (DM) are not well understood. This study describes the burden of DM and its associated costs. We performed a retrospective study using data from a large U.S. administrative claims database to identify commercially insured individuals with DM and compared healthcare utilization and cost with a matched cohort. Analyses were performed between the cohorts with ≥ 3 years of insured follow-up. We identified 1182 DM individuals with coverage at least 3 year prior and 3 years following an index DM diagnosis from January 1, 2009 to December 31, 2018. Compared to controls, DM individuals were 3.7 times more likely to be hospitalized (p < 0.0001), 2.4 times more likely to visit an emergency department (p < 0.0001), and had twice as many outpatient visits (p < 0.0001) in the first year post-diagnosis, with similar utilization at 2- and 3-years post-diagnosis. Annual mean costs were 3.9 times higher for health plan paid costs (p < 0.0001) and 2.6 times higher for patient-paid costs (p < 0.0001) for DM individuals than controls in the first year post-diagnosis, with similar costs at 2- and 3-years post-diagnosis. Factors associated with higher costs included the need for durable medical equipment, including gait aids or respiratory support devices. Individuals with DM experience significantly higher healthcare utilization and associated healthcare costs than controls of similar age, sex, race, and census region. The findings show the high clinical and economic burden of DM, highlighting the importance of improving cost-effective care delivery in this population.

Myotonic dystrophy is an inherited systemic disorder affecting skeletal muscle and the heart. Genetic testing for myotonic dystrophy is diagnostic and identifies those at risk for cardiac complications. The 2 major genetic forms of myotonic dystrophy, type 1 and type 2, differ in genetic etiology yet share clinical features. The cardiac management of myotonic dystrophy should include surveillance for arrhythmias and left ventricular dysfunction, both of which occur in progressive manner and contribute to morbidity and mortality. To promote the development of care guidelines for myotonic dystrophy, the Myotonic Foundation solicited the input of care experts and organized the drafting of these recommendations. As a rare disorder, large scale clinical trial data to guide the management of myotonic dystrophy are largely lacking. The following recommendations represent expert consensus opinion from those with experience in the management of myotonic dystrophy, in part supported by literature‐based evidence where available.