Background: Cardioskeletal myopathy is thought to contribute to exercise intolerance, and reduced quality of life (QOL) in Barth syndrome (BTHS). The objectives of this study were to examine: (1) skeletal muscle strength/performance in adolescents and young adults with BTHS and (2) the safety, feasibility, and initial efficacy of 12 weeks of progressive resistance exercise training (RET) on muscle strength, mass, and performance, bone mineral density, exercise tolerance, cardiac function, and QOL in individuals with BTHS.
Methods: Individuals with BTHS (n = 9, 23 ± 6 years), and age-, sex-, and activity level-matched unaffected Controls (n = 7, 26 ± 5 years) underwent baseline testing to assess muscle performance, exercise capacity, cardiac structure and function, body composition, and health-related QOL. Subsequently, n = 3 participants with BTHS performed 12 weeks of supervised RET (60 min per session, 3 sessions/week). All testing was repeated post-RET.
Results: BTHS had lower strength and lean muscle mass compared to Controls (all p < 0.05). BTHS also had diminished lower extremity, upper extremity, thoracic spine, lumbar spine, and pelvic bone mineral density (all p < 0.05) and reduced exercise capacity (p < 0.001) compared to Controls. RET was well-tolerated and attended, was not associated with any adverse events, and significantly increased muscle strength (p < 0.05).
Conclusions: Individuals with BTHS demonstrate reduced muscle strength and mass, bone mineral density, and exercise capacity. RET appears safe and well-tolerated in BTHS and promotes increased muscle strength. Larger studies are needed to confirm these improvements and to fully determine the effects of RET in individuals with BTHS.
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This work was supported by the Barth Syndrome Foundation, Foundation for Physical Therapy and National Institutes of Health R01HL107406-01, P30DK056341, P30DK020579, and UL1TR000448 from the National Center for Research Resources and NIH Roadmap for Medical Research. Echocardiographic imaging was supported by NIH grant S10RR024532 and a grant from the Barnes-Jewish Hospital Foundation to the Cardiovascular Imaging and Clinical Research Core Laboratory.
Supplemental Table 1Medications used and ICD status for participants with Barth Syndrome (DOCX 103 kb)
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