背景：Stickler综合征（SS）是一种原纤维胶原的结缔组织疾病，临床表现变化很大，包括过早的骨关节炎和骨质减少。这种肌肉骨骼改变可能会影响步态成熟度或产生力量困难。
目的：我们的目的是描述肌肉骨骼特征，骨刚度,步态运动学,和SS患者的动力学。
方法：这是一项针对西班牙SS协会通过电话招募的SS儿童和青少年的横断面研究。所有参与者都接受了肌肉骨骼特征的分析，包括3D步态分析。
结果：样本包括26名SS患者，主要是男孩（65.4％），中位年龄为11岁（IQR5-14）。88.5％的患者的手动肌肉测试正常。6分钟步行测试中涵盖的中位距离为560.1±113.4m。10岁以下儿童的骨刚度指数评分为70.9±19.7，10岁以上儿童的骨刚度指数评分为88.3±17.5。步态指标GPS和GDI分别为：7.4±1.9和95.3±9.7，左侧为6.8±2.0，右侧为97.7±9.5，分别。
结论：在我们的一系列SS患者中，我们发现肌肉关节受累对力量或步态问题没有很大影响.需要更多的工作来了解SS对肌肉骨骼系统的影响。
BACKGROUND: Stickler syndrome (SS) is a connective tissue disorder of fibrillary collagen with very variable clinical manifestations, including premature osteoarthritis and osteopenia. This musculoskeletal alteration may affect gait maturity or produce strength difficulties.
OBJECTIVE: Our aim was to describe the musculoskeletal characteristics, bone stiffness, gait kinematics, and kinetics of SS patients.
METHODS: This is a cross-sectional
study of children and youngsters with SS recruited by telephone calls through the Spanish SS Association. All participants underwent an analysis of musculoskeletal characteristics, including a 3D gait analysis.
RESULTS: The sample included 26 SS patients, mainly boys (65.4%) with a median age of 11 (IQR 5-14). The manual muscle testing was normal in 88.5% of patients. The median distance covered in the 6-min walking test was 560.1 ± 113.4 m. Bone stiffness index scores were 70.9 ± 19.7 for children under 10 years and 88.3 ± 17.5 for children older than 10 years. The gait indicators GPS and GDI were: 7.4 ± 1.9 and 95.3 ± 9.7, respectively, for the left side and 6.8 ± 2.0 and 97.7 ± 9.5 for the right side, respectively.
CONCLUSIONS: In our series of patients with SS, we found muscle-articular involvement does not have a high impact on strength or gait problems. More work is needed to understand the effect of SS on the musculoskeletal system.
