P.5.3 Whole body MRI study in 27 genetically confirmed Chilean patients with dysferlinopathy

To assess the natural course of dysferlinopathy, a cohort of 27 patients with genetically confirmed diagnosis underwent a whole body MRI scanning at distinct stages of disease. MRI scans were performed on a 1.5T Siemens equipment. Axial T1W and STIR images were obtained from the temporal regions to the ankles. Fatty replacement was ranked according to the scale of Kornblum et al. (2006). Two musculoskeletal radiologists, blinded to patients’ clinical and genetic data, analysed the images. Patients were separated into five groups according to years of disease course ( n  = 4; 6–8y n  = 5; 9–12y n  = 6; 13–16y n  = 6 and  > 17y n  = 6). In general, MRI infiltration score correlated positively with disease duration ( r  = 0.53, p  = 0.005) and negatively with global Muscle Functional Measure scale score ( r  = −0.70, p