Quantitative assessment of skeletal muscle degeneration in patients with myotonic dystrophy type 1 using MRI

Purpose: To identify MRI biomarkers that could be used to follow disease progression and therapeutic efficacy in one individual muscle in patients with myotonic dystrophy type 1 (DM1). Materials and Methods: Lower limb MRI and maximal ankle dorsiflexor strength assessment, using a hand-held dynamometer, were performed in 19 DM1 patients and 6 control subjects. The volume of residual muscle tissue of Tibialis Anterior (TA) muscle was chosen as an index for muscle atrophy, and the T2-relaxation-time of the residual muscle tissue was measured to evaluate edema-like lesions. The fat-to-water ratio was assessed using threepoint Dixon images to quantify fat infiltration in the entire muscle. Results: The intra-observer variability of MRI indices (similar to 5.2% for the residual muscle tissue volume and 2.5% for the fat-to-water ratio) was lower than that of the dorsiflexor torque measurement (similar to 11.5%). A high correlation (r = 0.91) was found between maximal ankle dorsiflexor strength and residual TA muscle tissue volume in DM1 patients. Increases in the fat-to-water ratio and T2-relaxation-time were associated with a decrease in maximal ankle dorsiflexor strength. Conclusion: MRI appears as a noninvasive method which can be used to follow disease progression and therapeutic efficacy.