Introduction: Myotonic dystrophy type 1 (DM1) is a rare, inherited, multisystem disorder caused by a CTG trinucleotide repeat expansion in DMPK. It is characterized by progressive muscle weakness, myotonia, and multisystemic manifestations. This study explored the experiences of patients and caregivers with DM1, focusing on the challenges and unmet needs faced by patients seeking confirmation of the diagnosis and ongoing, optimal management of DM1.
Methods: Semi-structured virtual interviews were conducted with US patients with DM1, their caregivers, and patient–caregiver dyads in Mar–Apr 2025. All participants completed a 30-min preinterview designed to facilitate reflection on their experiences. Interviews were led by qualitative researchers, audio-recorded, and transcribed verbatim. Thematic analysis was applied to identify key concepts, themes, and patterns related to disease burden and healthcare system encounters.
Results: 10 interviews were completed (patients with DM1 [n=5], caregivers [n=2], patient–caregiver dyads [n=3]). Most interviewees reported disease onset in adulthood (n=9), with diverse representation across ambulatory status, age, region, income, and healthcare setting. Myotonia, described as muscle stiffness, weakness, and cramping that could affect different muscle groups across the body, was recognized as a hallmark symptom. However, extensive multisystemic impact, including respiratory, cardiac, gastrointestinal, renal, reproductive, ocular, cognitive, and speech/facial impairments, were also reported. Due to this broad and variable impact, respondents reported cycling through the care of various specialists (eg, primary care physicians, neurologists, cardiologists, pulmonologists, gastroenterologists, fertility specialists, physical therapists), resulting in high healthcare resource utilization and patient burden. As DM1 progressed, all aspects of the patients’ lives were significantly affected, including physical functioning, psychosocial well-being, work limitations, daily activities, and overall healthcare needs. Financial burden significantly increased as patients managed disease progression, particularly as they began to lose mobility.
Conclusion: DM1 is a complex multisystem disease extending beyond myotonia, requiring ongoing multidisciplinary care and coordination. These findings highlight significant humanistic, economic, and social burden, underscoring the need for further research to quantify the total impact of DM1.