Imaging and Gait Analysis in FSHD Patients

Plain-language summary

Facioscapulohumeral muscular dystrophy (FSHD) is a common genetic muscle disorder characterized by progressive and often asymmetric muscle weakness, with high variability in clinical severity and disease progression. This study aims to integrate advanced imaging and motion analysis technologies to comprehensively evaluate the impact of FSHD on muscle degeneration and motor functionality. The primary objective is to characterize the distribution and severity of muscle degeneration using magnetic resonance imaging (MRI) and correlate these findings with motor functionality profiles in a cohort of FSHD patients. Secondary objectives include: Describing gait and posture through the analysis of functional parameters using 3D-motion capture technologies. Quantifying changes in gait and posture parameters before and after personalized orthopedic interventions, assessed with functional clinical scales and 3D-motion capture analysis. This single-center, observational study will recruit 40 genetically confirmed FSHD patients from routine clinical follow-ups at the Policlinico Gemelli. Patients will undergo MRI to assess the degree of muscle fatty replacement (T1-score) and 3D Gait Analysis to capture biomechanical parameters such as kinematics, ground reaction forces, and muscle activation. Functional assessments will include tests like the Six-Minute Walk Test (6MWT) and Timed Up \& Go Test (TUG), alongside standardized scales for balance, fatigue, pain, and quality of life. The study seeks to identify novel clinical and biomechanical outcome measures that can stratify FSHD patients and evaluate therapeutic interventions. By correlating MRI patterns with motor deficits and analyzing the impact of orthopedic devices, the study aims to inform personalized rehabilitation strategies and support the design of clinical trials.

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