Health-related quality of life and its correlates in Japanese patients with myotonic dystrophy type 1

Purpose Myotonic dystrophy type 1 (DM1) is a common form of muscular dystrophy that presents with a variety of symptoms that can affect patients’ quality of life (QoL). Despite the importance of clarifying patients’ subjective experience in both physical and psychosocial aspects for improved symptom management, there is lack of evidence concerning QoL of patients with DM1 in Japan. Patients and methods A cross-sectional study was performed with 51 DM1 patients who completed questionnaires that measured health-related QoL (HRQoL), depression, and daytime sleepiness. Activities of daily living, body mass index (BMI), and genetic information were also collected, together with general demographic information. Correlation analyses using these variables were performed. Furthermore, regression analysis was utilized to assess the relationship that HRQoL, depression, and daytime sleepiness scores have with other variables. Results Physical component summary (PCS) score was affected by the disease more than the mental component summary (MCS) score among study participants. Moderate correlation was observed between PCS and depression, PCS and Barthel index, and depression and daytime sleepiness. Regression analysis revealed that age, sex, cytosine–thymine–guanine repeats, and BMI did not predict the aforementioned dependent variables. Conclusion DM1 symptoms influenced physical component scores more than mental component scores, although the state of physical wellness seemed to affect patients’ mood. Explaining the QoL of these patients only using biologic and genetic characteristics was not sufficient. We conclude that social and psychological aspects of these patients’ lives and the nature of adjustments made by patients due to DM1 to require further examination in order to improve the standard of care.