Living with adult-onset myotonic dystrophy type 1: a scoping review.

Purpose: To identify the existing literature on experiences of living with adult-onset myotonic dystrophy type 1 (DM1) from people with adult-onset DM1, their caregivers and health care professionals.

Materials And Methods: Following the framework of Arksey and O'Malley, a literature search was performed in five databases in October-November 2022. An updated search was conducted in December 2023. Studies were eligible if they reported on experiences related to living with DM1 from people with adult-onset DM1, caregivers or healthcare professionals. Qualitative, quantitative, and mixed method studies were included. Key findings were categorized using the International Classification of Functioning, Disability and Health (ICF) components.

Results: 11 out of 1842 studies were included, of which five had a quantitative design, five had a qualitative design and one study had a mixed methods design. The studies reported on multiple experiences of living with adult-onset DM1 from the perspectives of people with the disease and their caregivers. All components of the ICF were reported in the studies; activity and participation and personal factors were the most reported.

Conclusion: Adult-onset DM1 is a complex disease with great biopsychosocial impact making it challenging to live with for those diagnosed with DM1 as well as their caregivers.