Introduction: The aim of this study was to evaluate the pattern of thigh muscle MRI changes in a large cohort of patients with dysferlinopathy.
Methods: MRI of the thigh was performed in 60 patients. We correlated the scale of muscle involvement on MRI with the modified Gardner-Medwin and Walton (GM-W) scale and disease duration. We also analyzed the relationship between muscle changes and genetic mutations.
Results: Fatty infiltration and edema were observed in 95.50% and 86.67% of patients, respectively. The hamstring muscles had the highest frequency and mean score of fatty infiltration, although a posterior-dominant pattern was found in only 56%. Edema most commonly and severely affected the quadriceps and adductor magnus muscles. Fatty infiltration score correlated positively with disease duration and GM-W scale.
Conclusions: The pattern of fatty infiltration was heterogeneous in dysferlinopathy patients. Muscle edema was common. Fatty infiltration can be used to assess disease progression. Muscle Nerve 54: 1072-1079, 2016.
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