摘要目的面肩肱型肌营养不良症(FSHD)是以脸、肩及下肢肌肉不同程度受累为主要表现的遗传性肌肉疾病。因为分子遗传检测并不总是明确,以及与其他类似的肌肉疾病具有重叠的临床表现,FSHD在临床及基因检测上较为困难。方法本研究对30例FSHD病人行全身肌肉MRI检查,从脂肪浸润、肌肉萎缩和水肿等影像表现来探讨FSHD肌肉受累 Abstract Aims The aim of this study was to determine whether the muscular dystrophy (FSHD) is a hereditary muscular disease characterized by varying degrees of involvement of the muscles of the face, shoulders and lower extremities. Because molecular genetic testing is not always clear and has overlapping clinical manifestations with other similar muscle diseases, FSHD is more difficult to perform clinically and genetically. Methods In this study, 30 patients with FSHD underwent whole body muscle MRI examination to investigate the muscle involvement of FSHD from the imaging findings of fatty infiltration, muscle atrophy and edema