Musculoskeletal and Gait Characteristics in Patients with Stickler Syndrome: A Cross-Sectional Study.

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.