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dc.contributor.authorWong, Brenda L
dc.contributor.authorSummer, Suzanne
dc.contributor.authorHorn, Paul S
dc.contributor.authorRutter, Meilan M
dc.contributor.authorRybalsky, Irina
dc.contributor.authorTian, Cuixia
dc.contributor.authorShellenbarger, Karen C
dc.contributor.authorKalkwarf, Heidi J
dc.date.accessioned2023-12-01T19:45:25Z
dc.date.available2023-12-01T19:45:25Z
dc.date.issued2023-10-25
dc.identifier.citationWong BL, Summer S, Horn PS, Rutter MM, Rybalsky I, Tian C, Shellenbarger KC, Kalkwarf HJ. Appendicular lean mass index changes in patients with Duchenne muscular dystrophy and Becker muscular dystrophy. J Cachexia Sarcopenia Muscle. 2023 Oct 25. doi: 10.1002/jcsm.13357. Epub ahead of print. PMID: 37878526.en_US
dc.identifier.eissn2190-6009
dc.identifier.doi10.1002/jcsm.13357en_US
dc.identifier.pmid37878526
dc.identifier.urihttp://hdl.handle.net/20.500.14038/52815
dc.description.abstractIntroduction: Mutations in the 79 exons of the dystrophin gene result in muscle wasting and weakness of varying clinical severity, ranging from severe/typical Duchenne muscular dystrophy (DMD) to intermediate DMD and mild Becker muscular dystrophy (BMD), depending on the frameshift of the mutation. We previously reported that males with DMD have progressively declining appendicular lean mass (ALM) and ALM index (ALMI) with age and worsening functional motor ability compared with healthy controls. These indices have not been studied in patients with intermediate DMD and BMD phenotypes and across DMD genotypes. In this study, we compared age-related trajectories of ALM and ALMI of patients who had (1) BMD without functional mobility deficits with patients who had DMD at different stages of disease and healthy controls; (2) a DMD intermediate phenotype with patients who had a typical DMD phenotype; and (3) DMD categorized by genotype. Methods: We conducted a retrospective review of ALM and ALMI data from 499 patients (ages 5-23 years) with DMD (466 typical and 33 intermediate) and 46 patients (ages 5-21 years) with BMD (without functional mobility deficits and functional mobility score of 1). Patients were grouped according to age reflecting disease stage (ages 5 to <7, 7 to <10, 10 to <14, and 14 to <20 years) and genotype (mutations in exons 1-30, 31-44, 45-62, and 63-79). Results: ALM and ALMI trajectories of patients with BMD paralleled those of healthy controls until adolescence, in contrast to patients with DMD. ALMI Z-scores of patients with BMD remained within ±2 SD without decline while those of patients with DMD fell below -2 SD around age 12 years. Patients with BMD had increasing ALM and ALMI with age, with peak accrual between ages 10 to <14 years. ALMI declined after age 14 years for those with intermediate DMD compared with 10 years for patients with typical DMD. Patients with mutations in exons 63-79 had a greater decline in ALMI as compared with those with other genotypes after age 10 years. Conclusions: Age-related changes in ALMI in patients with BMD and intermediate DMD differ from those with typical DMD, reflecting their clinical phenotypes. ALM and ALMI should be further studied in patients with BMD and DMD subtypes for their potential value as surrogate markers to characterize the severity of BMD and DMD and inform clinical care decisions and clinical trial designs.en_US
dc.language.isoenen_US
dc.relation.ispartofJournal of Cachexia, Sarcopenia and Muscleen_US
dc.relation.urlhttps://doi.org/10.1002/jcsm.13357en_US
dc.rights© 2023 The Authors. Journal of Cachexia, Sarcopenia and Muscle published by Wiley Periodicals LLC. This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.en_US
dc.rightsAttribution-NonCommercial-NoDerivatives 4.0 International*
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/*
dc.subjectAppendicular lean mass (ALM)en_US
dc.subjectAppendicular lean mass index (ALMI)en_US
dc.subjectBecker muscular dystrophy (BMD)en_US
dc.subjectDual energy-X-ray absorptiometry (DXA)en_US
dc.subjectDuchenne muscular dystrophy (DMD)en_US
dc.subjectGenotypeen_US
dc.titleAppendicular lean mass index changes in patients with Duchenne muscular dystrophy and Becker muscular dystrophyen_US
dc.typeJournal Articleen_US
dc.source.journaltitleJournal of cachexia, sarcopenia and muscle
dc.source.countryGermany
dc.identifier.journalJournal of cachexia, sarcopenia and muscle
refterms.dateFOA2023-12-01T19:45:26Z
dc.contributor.departmentNeurologyen_US
dc.contributor.departmentPediatricsen_US


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© 2023 The Authors. Journal of Cachexia, Sarcopenia and Muscle published by Wiley Periodicals LLC. This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.
Except where otherwise noted, this item's license is described as © 2023 The Authors. Journal of Cachexia, Sarcopenia and Muscle published by Wiley Periodicals LLC. This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.