To describe healthcare conditions and services used by patients with myotonic dystrophy (DM) one-year before diagnosis and compared with matched controls (MCs).

DM is a rare, dominantly inherited, monogenic, multisystem disease that causes progressive myotonia, muscle weakness, and atrophy, along with variable degrees of dysfunction in the respiratory, gastrointestinal, cardiac, and central nervous systems, leading to an increased burden on quality of life. Limited literature exists describing the DM patient experience before diagnosis.  

We identified 1694 DM patients and 8470 MCs. Comparisons were significant (P<0.0001) unless noted. DM patients had more Charlson comorbidity index scores ≥1 than MCs (19.1% vs 9.7%).  Healthcare conditions prevalence and services used were higher in DM patients vs. MCs. The largest differences were in “other nervous system disorders” (54% vs 11%), “other connective tissue disease” (49% vs 21%), and “other lower respiratory disease” (29% vs 15%). The mean number of services used were generally consistent with healthcare condition findings that DM has a greater burden in the year prior to diagnosis.