Functioning and disability in adults with myotonic dystrophy type 1

Abstract

Purpose. To provide a comprehensive description of functioning and disability with regard to stages of disease progression in adults with myotonic dystrophy type 1 (DM1). Further to explore associations of measures of manual dexterity and of walking capacity with measures of activities of daily living (ADL) and participation in social and lifestyle activities.

Methods. Seventy persons with DM1 underwent examinations, tests and answered questionnaires. Stages of disease progression were based on the muscular impairment rating scale.

Results. Overweight, cardiac dysfunctions, respiratory restrictions, fatigue and/or low physical activity levels were found in approximately 40%% of those with DM1. Over 75%% had muscle impairments, and activity limitations in manual dexterity and walking. Dependence in personal and instrumental ADL was found in 16%% and 39%%, respectively, and participation restrictions in social and lifestyle activities in 52%%. The presence of concurrent body-function impairments, activity limitations and participation restrictions was high. Significant differences were found in muscle impairment, manual dexterity, mobility, ADL and social and lifestyle activities with regard to disease progression. Cut-off values in measures of manual dexterity and walking capacity associated to functioning are proposed.

Conclusion. This information can be used for developing clinical practise and for health promotion for persons with DM1.

Keywords:

• Myotonic dystrophy type 1
• neuromuscular diseases
• physical therapy
• participation

Acknowledgements

The authors thank Lisbet Broman for assistance in data collection, and for research and statistical consultation. The authors also thank Ulla Persson for assistance in data collection and Nawzad Saleh for help with evaluation of cardiac function.

Declaration of interest

This research was supported by grants from the Einar Belvén Foundation, the Norrbacka-Eugenia Foundation, Stockholm, the Swedish Association of Registered Physiotherapists, the Swedish Association for Persons with Neurological Disabilities (NHR), Stockholm County Council and Karolinska Institutet (ALF project funding), and AFA Insurance.