Laboratory End: icap, Inserm Unit 1179, UVSQ, Université Paris-Saclay, France.
Research Unit ERPHAN, Université Paris-Saclay, France.
J Neuromuscul Dis. 2023;10(5):963-976. doi: 10.3233/JND-230060.
The late-onset form of Pompe disease (LOPD) is characterized by muscle weakness, locomotor limitations and a risk of falls. The mechanisms responsible for altered locomotion in adults with LOPD are unknown. The identification of clinical biomarkers is essential for clinical follow-up and research.
To identify muscle determinants of impaired locomotor performance, gait stability and gait pattern, and biomechanical determinants of falls in adults with LOPD.
In this cross-sectional, case-control study, LOPD and control participants underwent 3D gait analysis, locomotor performance tests and muscle strength measurements (isokinetic dynamometer). We explored the muscular determinants of locomotor performance (gait speed, 6-minute walk test distance and timed up and go test), gait stability (spatiotemporal gait variables) and the gait pattern. We also explored biomechanical gait determinants of falls. After intergroup comparisons, determinants were sought to use forward stepwise multiple regression.
Eighteen participants with LOPD and 20 control participants were included. Locomotor performance, gait stability, and the gait pattern were significantly altered in LOPD compared to control participants. Hip abductor strength was the main common determinant of locomotor performance, gait stability and pelvic instability. Hip flexor strength was the main determinant of abnormal gait kinematics at the hip and knee. Percentage duration of single support phase during the gait cycle was the main determinant of falls.
Hip abductor strength and percentage duration of single support during gait were the major determinants of locomotor performance, gait stability, falls and the gait pattern in LOPD. These new clinical biomarkers should therefore be systematically assessed using instrumented tools to improve the follow-up of adults with LOPD. They should also be considered in future studies to accurately assess the effects of new therapies. Hip abductor strength and single support phase should also be priority targets for rehabilitation.
庞贝病的迟发性形式（LOPD）的特征是肌肉无力、运动受限和跌倒风险。导致成人 LOPD 运动改变的机制尚不清楚。识别临床生物标志物对于临床随访和研究至关重要。
确定肌肉在成人 LOPD 运动表现、步态稳定性和步态模式受损以及跌倒的生物力学决定因素。
在这项横断面病例对照研究中，LOPD 和对照组参与者接受了 3D 步态分析、运动表现测试和肌肉力量测量（等速测力计）。我们探讨了肌肉在运动表现（步态速度、6 分钟步行测试距离和计时起立和行走测试）、步态稳定性（时空步态变量）和步态模式中的决定因素。我们还探讨了生物力学步态决定跌倒的因素。在组间比较后，使用逐步向前回归寻找决定因素。
共纳入 18 名 LOPD 患者和 20 名对照组参与者。与对照组相比，LOPD 患者的运动表现、步态稳定性和步态模式均明显改变。髋关节外展肌力量是运动表现、步态稳定性和骨盆不稳定的主要共同决定因素。髋关节屈肌力量是髋关节和膝关节异常步态运动学的主要决定因素。步态周期中单支撑阶段的百分比持续时间是跌倒的主要决定因素。
髋关节外展肌力量和步态中单支撑阶段的百分比持续时间是 LOPD 运动表现、步态稳定性、跌倒和步态模式的主要决定因素。因此，应该使用仪器工具系统评估这些新的临床生物标志物，以改善对成人 LOPD 的随访。在未来的研究中，也应该考虑这些生物标志物，以准确评估新疗法的效果。髋关节外展肌力量和单支撑阶段也应成为康复的优先目标。
