Marie Kierkegaard, Karin Harms-Ringdahl, Lotta Widén Holmqvist, Anna Tollbäck
DOI: 10.2340/16501977-0376

Objective: The purpose of this study was to describe and analyse self-rated perceived functioning, disability and environmental facilitators/barriers with regard to disease severity, using the International Classification of Functioning, Disability and Health (ICF) checklist, in adults with myotonic dystrophy type 1.
Design: Cross-sectional design.
Subjects: Forty-one women and 29 men with myotonic dystrophy type 1.
Methods: A modified ICF checklist was used for self-rating of perceived problems in 29 body-function categories, difficulties in 52 activity and participation categories, and facilitators/barriers in 23 environmental-factor categories according to the verbal anchors of the ICF qualifiers. Disease severity classification was based on the muscular impairment rating scale.
Results: Of the persons with myotonic dystrophy type 1, 80% perceived problems of excessive daytime sleepiness, 76% of muscle power, and 66% of energy and drive functions, while over 59% perceived difficulties in physically demanding mobility activities. Disabilities in mobility, self-care and domestic life were more frequently reported by persons with severe disease. Support from the immediate family, medicines and social security services were perceived as facilitators for 50–60% of the participants.
Conclusion: Disabilities and important environmental facilitators in adults with myotonic dystrophy type 1were identified, and this clinically-relevant information can be used for developing health services for people with this condition.