Rego Francisco Robson Queiroz, Oliveira Herison Franklin Viana de, Rolim Filho Epitácio Leite
Universidade Federal de Pernambuco, Recife, PE, Brasil.
Rev Bras Ortop (Sao Paulo). 2024 Jul 22;59(5):e737-e744. doi: 10.1055/s-0044-1786200. eCollection 2024 Oct.
This study evaluated and determined, through instrumented three-dimensional (3D) gait analysis, the kinetic, kinematic, and electromyographic profile of patients with mucopolysaccharidosis (MPS) IV and VI. This crossectional study included 11 patients treated at a rare diseases reference service and evaluated in a movement analysis laboratory. We collected clinical, physical examination, and kinetic, kinematic, and electromyographic data using a 3D movement system, from June 2020 to January 2021. There were 5 (45.5%) female patients, and 6 (54.5%) males. Furthermore, 9 (81.8%) subjects had MPS VI, and 2 (18.2%) had MPS IV. Their average age was 14.6 years. The average speed was 0.68 m/s (±0.21), and the stride length was 0.66 (±0.15). The most altered static angles were the hips' abduction-adduction, knees' range of movement, and foot's progression angle. Most cases presented a gait pattern of hip flexion-adduction and knee flexion. The gait profile scale (GPS) was 14.58 (±6.72) on the right side and 11.71 (±3.39) on the left. The gait deviation index (GDI) was 73.23 (±14.50) on the right side and 80.45 (±17.05) on the left. Muscle activity approximately followed the current model. The patients showed a decreased average speed and stride length. Most cases presented a gait pattern of hip flexion-adduction and knee flexion. Both GPS and GDI showed a significant deviation from normality.
本研究通过仪器化三维（3D）步态分析，评估并确定了黏多糖贮积症（MPS）IV型和VI型患者的动力学、运动学和肌电图特征。 这项横断面研究纳入了11例在罕见病参考服务机构接受治疗并在运动分析实验室进行评估的患者。我们于2020年6月至2021年1月期间，使用3D运动系统收集了临床、体格检查以及动力学、运动学和肌电图数据。 有5名（45.5%）女性患者和6名（54.5%）男性患者。此外，9名（81.8%）受试者为MPS VI型，2名（18.2%）为MPS IV型。他们的平均年龄为14.6岁。平均速度为0.68米/秒（±0.21），步长为0.66（±0.15）。改变最大的静态角度是髋关节的外展-内收、膝关节的活动范围以及足部的前进角度。大多数病例呈现出髋关节屈曲-内收和膝关节屈曲的步态模式。右侧的步态轮廓量表（GPS）为14.58（±6.72），左侧为11.71（±3.39）。右侧的步态偏差指数（GDI）为73.23（±14.50），左侧为80.45（±17.05）。肌肉活动大致遵循当前模型。 患者表现出平均速度和步长降低。大多数病例呈现出髋关节屈曲-内收和膝关节屈曲的步态模式。GPS和GDI均显示出与正常情况有显著偏差。
