Progression of Miyoshi muscular dystrophy monitored by quantitative MRI

Motivation: To characterize the skeletal muscle and assess progression of the Miyoshi dystrophy by quantitative MRI. Goal(s): Compare the changes in fat fractions in individual calf muscles 10 months apart in time. Approach: Lower extremity of 4 dystrophic patients were measured in 3T scanner by multiecho-Dixon sequence in two time points. Three asymptomatic DYSF gene carriers served as reference. Results: Fat fraction increased in all measured muscles in dystrophic patients while staying stable in controls. The most significant increments were detected in the muscles most preserved (TP, FDL, EXT, FHL). Variation can be observed even within the patients with the same genotype. Impact: Using quantitative analysis based on automatically generated fat fraction maps for assessment of Miyoshi dystrophy in muscles allow clinically feasible monitoring of the disease progression and description of the pattern of the disease.