ArticleOrphanet journal of rare diseases2026
An exercise intervention in children and young adults with McArdle disease: feasibility, acceptability, and clinical outcomes.
Article in Orphanet journal of rare diseases, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
introductionPatients with McArdle disease have reduced exercise capacity. Structured exercise programs in adults with McArdle disease can improve aerobic capacity and strength. However, structured exercise has not been evaluated in younger populations. Our aim was to determine the safety, feasibility, and acceptability of an exercise intervention in children and young adults with McArdle disease.
methodsChildren and young adults aged 5–30 years with McArdle disease were recruited through metabolic clinics in New South Wales, Australia, to complete a remote, supervised 12-week exercise intervention. Pre and/or post intervention, participants completed a treadmill cardiopulmonary exercise test (CPET), strength testing, habitual physical activity monitoring, a quality-of-life questionnaire, acceptability questionnaire, muscular Near Infrared Spectroscopy (NIRS), and blood samples.
resultsFive out of 10 eligible participants, with a median age of 17 years (range 13–29), were enrolled. Four met the feasibility target of 70% completed exercise sessions. Four episodes of mild rhabdomyolysis were reported during the study, but no participant required hospital admission. All participants reported they would participate in similar programs in the future. No significant changes were found in aerobic capacity, strength, habitual physical activity levels or quality of life. Trends were observed for lower perceived pain during CPET, and improved leg press. NIRS indicated a possible trend for improved muscle oxygen utilisation.
conclusionA 12-week remotely delivered exercise intervention was found to be feasible, safe, and acceptable to children and young adults with McArdle disease. Although improvements to aerobic capacity and strength were not elicited, individual clinical benefits may have occurred. ONE SENTENCE TAKE HOME MESSAGE: An exercise intervention in children and young adults with McArdle disease is feasible, safe, and acceptable, and may elicit individual clinical benefits.
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