Quantitative muscle MRI and ultrasound for facioscapulohumeral muscular dystrophy: complementary imaging biomarkers

OBJECTIVE: To assess the overlap of and differences between quantitative muscle MRI and ultrasound in characterizing structural changes in leg muscles of facioscapulohumeral muscular dystrophy (FSHD) patients. METHODS: We performed quantitative MRI and quantitative ultrasound of ten leg muscles in 27 FSHD patients and assessed images, both quantitatively and visually, for fatty infiltration, fibrosis and edema. RESULTS: The MRI fat fraction and ultrasound echogenicity z-score correlated strongly (CC 0.865, p < 0.05) and both correlated with clinical severity (MRI CC 0.828, ultrasound CC 0.767, p < 0.001). Ultrasound detected changes in muscle architecture in muscles that looked normal on MRI. MRI was better in detecting late stages of fatty infiltration and was more suitable to assess muscle edema. Correlations between quantitative and semi-quantitative scores were strong for MRI (CC 0.844–0.982, p < 0.05), and varied for ultrasound (CC 0.427–0.809, p = 0.026–p < 0.001). CONCLUSIONS: Quantitative muscle MRI and ultrasound are both promising imaging biomarkers for differentiating between degrees of structural muscle changes. As ultrasound is more sensitive to detect subtle structural changes and MRI is more accurate in end stage muscles and detecting edema, the techniques are complementary. Hence, the choice for a particular technique should be considered in light of the trial design.