Neuromuscular and Neuropediatric Research Group, Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol (IGTP), Campus Can Ruti, Universitat Autònoma de Barcelona, Badalona, SPAIN.
Instituto de Investigación Sanitaria Hospital "12 de Octubre" ("imas12"), Madrid, SPAIN.
Med Sci Sports Exerc. 2022 Aug 1;54(8):1231-1241. doi: 10.1249/MSS.0000000000002915. Epub 2022 Mar 22.
The long-term effects of exercise in patients with McArdle disease-the paradigm of "exercise intolerance"-are unknown. This is an important question because the severity of the disease frequently increases with time.
This study aimed to study the effects of a long-term exercise intervention on clinical and fitness-related outcomes in McArdle patients.
Seventeen patients (exercise group: n = 10, 6 male, 38 ± 18 yr; control: n = 7, 4 male, 38 ± 18 yr) participated in a 2-yr unsupervised intervention including moderate-intensity aerobic (cycle-ergometer exercise for 1 h) and resistance (high load-low repetition circuit) training on 5 and 2-3 d·wk -1 , respectively. Patients were assessed at baseline and postintervention. Besides safety, outcomes included clinical severity (e.g., exercise intolerance features) on a 0-3 scale (primary outcome), and aerobic fitness, gross muscle efficiency, and body composition (total/regional fat, muscle, and bone mass; secondary outcomes).
The exercise program was safe and resulted in a reduction of 1 point (-1.0; 95% confidence interval, -1.6 to -0.5; P = 0.025) in clinical severity versus the control group, with 60% of participants in the exercise group becoming virtually asymptomatic and with no functional limitation in daily life activities. Compared with controls, the intervention induced significant and large benefits (all P < 0.05) in the workload eliciting the ventilatory threshold (both in absolute (watts, +37%) and relative units (watts per kilogram of total body mass or of lower-limb muscle mass, +44%)), peak oxygen uptake (in milliliters per kilogram per minute, +28%), and peak workload (in absolute (+27%) and relative units (+33%)). However, no significant changes were found for muscle efficiency or for any measure of body composition.
A 2-yr unsupervised intervention including aerobic and resistance exercise is safe and induces major benefits in the clinical course and aerobic fitness of patients with McArdle disease.
麦卡德尔病（“运动不耐受”的典型代表）患者的长期运动效果尚不清楚。由于该病的严重程度通常会随时间而加重，因此这是一个重要的问题。
本研究旨在研究长期运动干预对麦卡德尔病患者临床和与健康相关的结局的影响。
17 名患者（运动组：n=10，6 名男性，38±18 岁；对照组：n=7，4 名男性，38±18 岁）参加了一项为期 2 年的非监督干预，包括中等强度的有氧运动（自行车测力计运动 1 小时）和阻力训练（高负荷-低重复循环），每周分别进行 5 天和 2-3 天。患者在基线和干预后进行评估。除安全性外，结果还包括临床严重程度（例如，运动不耐受特征）的 0-3 级评分（主要结局），以及有氧健身、总肌肉效率和身体成分（全身/局部脂肪、肌肉和骨量）（次要结局）。
运动方案安全，与对照组相比，临床严重程度降低 1 分（-1.0；95%置信区间，-1.6 至-0.5；P=0.025），60%的运动组患者几乎无症状，日常生活活动无功能限制。与对照组相比，干预在诱发通气阈的工作量方面引起了显著且较大的益处（所有 P<0.05）（绝对值（瓦特，+37%）和相对单位（瓦特/千克总体重或下肢肌肉质量，+44%））、峰值摄氧量（毫升/千克/分钟，+28%）和峰值工作量（绝对值（+27%）和相对单位（+33%））。然而，肌肉效率或任何身体成分测量均未发生显著变化。
为期 2 年的包括有氧运动和阻力运动的非监督干预是安全的，并可显著改善麦卡德尔病患者的临床病程和有氧健身能力。
