Schema corporeo di degenerazione muscolare e progressione in sarcoglicanopatie.

OBJECTIVE: To characterize whole-body intramuscular fat distribution pattern in patients with sarcoglycanopathies and explore correlations with disease severity, duration and age at onset. METHODS: Retrospective, cross-sectional, multicentric study enrolling patients with variants in one of the four sarcoglycan genes who underwent whole-body muscle MRI. Intramuscular fatty replacement was evaluated on T1-weighted images and represented by heatmaps. Dimensionality reduction and linear spline models examined relationships between patterns of intramuscular fat replacement and clinical findings. RESULTS: MRI scans from 64 patients (age range 4-67 years) covering 4160 muscles were analyzed. Dis