Human Movement and Rehabilitation, School of Health and Society, University of Salford, Salford, UK.
Human Movement and Rehabilitation, School of Health and Society, University of Salford, Salford, UK.
Hum Mov Sci. 2021 Jun;77:102777. doi: 10.1016/j.humov.2021.102777. Epub 2021 Mar 14.
Late-onset Pompe disease (LOPD) is a rare disease, defined as a progressive accumulation of lysosomal glycogen resulting in muscle weakness and respiratory problems. Anecdotally, individuals often have difficulties walking, yet, there is no three-dimensional data supporting these claims. We aimed to assess walking patterns in individuals with LOPD and compare with healthy individuals. Kinematic, kinetic and spatiotemporal data were compared during walking at a self-selected speed between individuals with LOPD (n = 12) and healthy controls (n = 12). Gait profile scores and movement analysis profiles were also determined to indicate gait quality. In comparison with healthy individuals, the LOPD group demonstrated greater thoracic sway (96%), hip adduction angles (56%) and pelvic range of motion (77%) and reduced hip extensor moments (36%). Greater group variance for the LOPD group were also observed. Individuals with LOPD had a slower (15%) walking speed and reduced cadence (7%). Gait profile scores were 37% greater in the LOPD group compared to the healthy group. Proximal muscular weakness associated with LOPD disease is likely to have resulted in a myopathic gait pattern, slower selected walking speeds and deviations in gait patterns. Although individuals with LOPD presented with some common characteristics, greater variability in gait patterns is likely to be a result of wide variability in phenotype spectrum observed with LOPD. This is the first study to examine walking in individuals with LOPD using instrumented gait analysis and provides an understanding of LOPD on walking function which can help orientate physiotherapy treatment for individuals with LOPD.
迟发性庞贝病（LOPD）是一种罕见疾病，其特征为溶酶体糖原的进行性积累，导致肌肉无力和呼吸问题。据报道，患者通常行走困难，但尚无三维数据对此加以证实。本研究旨在评估 LOPD 患者的行走模式，并与健康个体进行比较。在自主选择的速度下行走时，对 LOPD 患者（n=12）和健康对照组（n=12）的运动学、动力学和时空数据进行比较。还确定了步态轮廓评分和运动分析评分，以表明步态质量。与健康个体相比，LOPD 组的胸摆幅度更大（96%）、髋内收角度更大（56%）和骨盆活动范围更大（77%），髋伸肌力矩更小（36%）。LOPD 组的组间差异也更大。LOPD 患者的行走速度较慢（15%），步频降低（7%）。与健康组相比，LOPD 组的步态轮廓评分高 37%。LOPD 疾病相关的近端肌肉无力可能导致肌病步态模式、较慢的选择行走速度和步态模式的偏差。尽管 LOPD 患者具有一些共同特征，但步态模式的更大变异性可能是 LOPD 表型谱观察到的广泛变异性的结果。这是首次使用仪器化步态分析评估 LOPD 患者行走的研究，为了解 LOPD 对行走功能的影响提供了依据，有助于为 LOPD 患者定位物理治疗。
