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Considered the most common form of congenital myopathy, individuals with <jats:italic>RYR1<\/jats:italic>-related myopathies may experience skeletal muscle weakness and fatigue, as well as reduced functional capacity. This study examined the exercise capacity in individuals with <jats:italic>RYR1<\/jats:italic>-related myopathies during a cardiopulmonary exercise test.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods<\/jats:title>\n            <jats:p>Ambulatory individuals (32 adults, 16 children) with genetically confirmed <jats:italic>RYR1<\/jats:italic>-related myopathies performed exercise testing on a cycle ergometer and a six-minute walk test at baseline and month six (pre-intervention phase) of a randomized controlled trial (NCT02362425). Outcomes at peak exercise were compared to expected values among the adult and pediatric populations, while longitudinal changes were assessed after six months. Correlations between peak exercise outcomes and the six-minute walk test distance were also examined.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results<\/jats:title>\n            <jats:p>The peak outcomes of oxygen uptake, work rate and heart rate at baseline were lower (all <jats:italic>p<\/jats:italic>\u2009&lt;\u20090.001) than expected in both adults and children. Peak oxygen uptake expressed as percent predicted was 62\u2009\u00b1\u200920% and 49\u2009\u00b1\u200924% in adults and children, respectively. No changes were observed across six months for peak exercise outcomes in either group. A moderately strong positive correlation was observed for peak work rate and six-minute walk test distance among adults (r<jats:sub>s<\/jats:sub> = 0.75, <jats:italic>p<\/jats:italic>\u2009&lt;\u20090.001) and children (r<jats:sub>s<\/jats:sub> = 0.64, <jats:italic>p<\/jats:italic>\u2009=\u20090.008).<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusion<\/jats:title>\n            <jats:p>Exercise capacity is diminished in adults and children with <jats:italic>RYR1<\/jats:italic>-related myopathies yet remains stable over six months. The six-minute walk test distance had a direct relationship to peak exercise work rate in adults and children. Exercise capacity testing may be informative for individualizing exercise regimens for persons with <jats:italic>RYR1<\/jats:italic>-related myopathies. This study was registered with <jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"http:\/\/www.clinicaltrials.gov\" ext-link-type=\"uri\">www.clinicaltrials.gov<\/jats:ext-link> (NCT02362425) on February 12, 2015.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1186\/s13023-025-04013-7","type":"journal-article","created":{"date-parts":[[2025,9,24]],"date-time":"2025-09-24T17:53:36Z","timestamp":1758736416000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Exercise capacity in RYR1-related myopathies"],"prefix":"10.1186","volume":"20","author":[{"given":"Lisa M. 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Informed consent was obtained from all individual participants included in the study.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Not applicable.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"Financial interests: JJT, JWW, KGM and TAL received research support from the RYR-1 Foundation. All other authors (LMKC, ICC, MJ, MW, BD) declare they have no financial interests relevant to this manuscript. Non-financial interests: MJ serves on the scientific advisory board for the RYR-1 Foundation.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing Interests"}}],"article-number":"485"}}