Disability and Physical Exercise in adults with Myotonic Dystrophy type 1

摘要

Background: Myotonic dystrophy type 1(DM1) is an inherited, slowly progressive,multi-system disease. There is no overall picture of its effect in individuals, and there isa lack of scientific evidence to support recommendations on physical exercise.Aim: The aims of the work described in this thesis were to explore aspects offunctioning, disability and contextual factors in adults with DM1 with regard todifferent stages of the disease; to describe the reliability and feasibility of the sixminute-walk test (6MWT), and to evaluate the feasibility and effects of a physicalexercise programme.Methods: Seventy adults with DM1 were assessed using various methods andmeasures, including a modified ICF checklist, tests and questionnaires. The reliabilityof the 6MWT was evaluated in 12 persons with DM1, and its feasibility in another 64.A comprehensive group exercise training programme, the Friskis&Svettis® OpenDoors programme, was evaluated in 35 adults with DM1. They were assigned by lot toeither a training group (18 persons) or a control group (17 persons). The training groupparticipated in the exercise programme for 60 minutes twice a week during 14 weeks.The 6MWT was the primary outcome measure. Stages of disease progression were inall the studies based on the disease-specific muscular impairment rating scale.Results: Excessive daytime sleepiness, muscle weakness and fatigue were commonbody-function impairments. Activity limitations were most frequently found inphysically-demanding mobility activities. Few reported participation restrictions.Support from the immediate family was the most important facilitator for functioning.The individual’s total number of impairments, limitations and restrictions was high andpersons with severe muscular impairment had more impairments andlimitations/restrictions than did those with mild. The 6MWT was reliable and feasible.The better of two possible trials was identified for use as test result. A difference of 33metres or 6% for an individual with DM1 for a change not to be ascribed tomeasurement error is suggested .The Open Doors programme was well tolerated and nodetrimental effects were found. Intention-to-treat analyses revealed no significantbetween-group differences in the primary outcome measure. Six persons in the traininggroup and two controls increased their 6MWT distance by ≥6%. Many participants inthe training group experienced subjective improvements and could recommend thisform of physical exercise to others with the same diseaseConclusion: The finding of a wide variety of body-function impairments, activitylimitations and participation restrictions underlines the multi-systemic nature of thedisease and the vast impact it has on health. It further implies that a multi-professionalapproach is needed for optimal care. The information can be used for developingclinical practice and for health promotion for people with DM1. The 6MWT wasreliable and feasible, and can be used as an outcome measure in adults with DM1. TheFriskis&Svettis® Open Doors programme was feasible for adults with DM1 who hadbeen screened for cardiac involvement, had distal or mild-to-moderate proximal muscleimpairment and no severe cognitive impairments.