HETEROGENEOUS CHARACTERISTICS OF MRI CHANGES OF THIGH MUSCLES IN PATIENTS WITH DYSFERLINOPATHY

作者：Jin, Suqin; Du, Jing; Wang, Zhaoxia; Zhang, Wei; Lv, He; Meng, Lingchao; Xiao, Jiangxi; Yuan, Yun^*

来源：Muscle & Nerve, 2016, 54(6): 1072-1078.

DOI：10.1002/mus.25207

• dysferlinopathy
• DYSF mutations
• edema
• muscle
• fatty infiltration
• magnetic resonance imaging

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.

• 出版日期2016-12
• 单位北京大学