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- W4254459679 abstract "Fibroadipose replacement pattern of the lower limb in sarcoglycanopathies is already known within a cohort of 69 patients (Tasca et al. 2017). Data from other body parts are lacking, but may be relevant for understanding disease evolution in late stages. Our goals are the definition of the whole-body MRI (WB-MRI) pattern in a cohort of pediatric and adult patients, the correlation of imaging data with clinical features and the understanding of imaging changes along disease duration. Transversal and longitudinal study to collect clinical and genetic information and assess muscle involvement by means of Lamminen score on T1-weighted WB-MRI from patients with sarcoglycanopathies. Scores of fibroadipose replacement are represented by heatmaps and analysed by machine learning approaches. By now we have reviewed 36 WB-MRI from 32 patients (8 LGMD2C; 18 LGMD2D; 5 LGMD2E; 1 LGMD2F; age between 4 and 51 years and 18 patients below 16 years). As expected in a LGMD, a preferred regional involvement of both limb girdles, thigh and lumborum paraspinal muscles was found. Most asymptomatic patients or patients able to run present slight involvement of thigh (predominantly adductor magnus, tensor fascia latae and gluteus), iliocostalis lumborum and latissimus dorsi muscles. Even in patients who had lost ambulation, head, neck, forearm, leg and gracilis, sartorius and short head of biceps femoris muscles tend to be selectively spared. Disease duration and ambulation status are related with muscle infiltration. Our data confirm that there is a specific pattern of fat replacement in both pelvic and scapular girdles (interestingly, latissimus dorsi is involved early). More images are being evaluated at this time. WB-MRI provides information about disease evolution from the early stages and it would be a useful tool to approach diagnosis and to monitor evolution and response to treatment." @default.
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- W4254459679 date "2020-10-01" @default.
- W4254459679 modified "2023-10-16" @default.
- W4254459679 title "MUSCLE IMAGING – MRI" @default.
- W4254459679 doi "https://doi.org/10.1016/j.nmd.2020.08.170" @default.
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