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

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.

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.

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.

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.