多微小轴空病诊疗新进展

Progress in Diagnosis and Treatment of Multi-minicore Disease

多微小轴空病(MmD)是以非进行性或缓慢进行性肌无力、肌张力低下为临床特点,以骨骼肌纤维内多轴空样改变为病理特征的一种罕见的先天性肌病。MmD的发病与兰尼碱受体(RYR1)基因或硒蛋白N(SEPN1)基因突变有关,不同基因突变引起MmD的骨骼肌病理改变和临床表现不尽相同。MmD的诊断主要依靠肌肉活检和基因检测。目前,康复疗法是治疗MmD的重要手段。

Multi-minicore disease（MmD）is a rare form of myopathy,with the clinical features of non-progressive or slowly progressive muscle weakness,and the pathological characteristic of multiple cores within the muscle fibers.Pathogenesis of MmD is related to RYR1 or SEPN1 gene mutation,which can lead to various skeletal muscle pathological changes and clinical manifestations in MmD.Diagnosis of MmD depends on the muscle biopsy and gene detection.At present,rehabilitation therapy is an important treatment of MmD.