成年晚发肢带型肌营养不良1例

Diagnosis of adult late onset limb girdle muscular dystrophy:a case report and review of literatures

肢带型肌营养不良是一组以骨盆带肌及肩胛带肌等近端肌肉进行性萎缩和无力为主要表现的遗传性肌病,属于肌营养不良的一种亚型。肌营养不良发病率较低,分型众多,病因复杂,临床表现各异,临床上易误诊和漏诊。本文报告1例以四肢近端无力为主要表现的成年晚发肢带型肌营养不良,该患者病程长,病情进展缓慢,病史复杂,血清肌酸激酶(creatine kinase,CK)正常,经肌电图、经股部中份肌肉MRI及肌肉病理等检查后明确诊断。该病例提示对肌无力患者应进行早期的实验室筛查、肌电图及肌肉MRI检查,必要时通过肌活检及基因检测明确病因,做到早发现、早确诊、早治疗。

Limb girdle muscular dystrophy(LGMD)is a group of hereditary myopathy characterized by progressive atrophy of proximal muscles such as pelvic girdle and shoulder girdle muscles,which is a kind of muscular dystrophy.LGMD has different types,clinical manifestations,complicated etiology and low incidence rate,so it's easy to be misdiagnosed in clinical practice.We report a case of late onset limb girdle muscular dystrophy with a long duration,developed slowly.The diagnosis was confirmed as LGMD by electromyography,muscle MRI of patient's thigh muscles and muscle pathology.This case suggests that early laboratory screening,electromyography and muscle MRI should be carried out for patients with myasthenia.Muscle biopsy and gene testing should be used to determine the cause of the disease when necessary,so as to achieve early detection,early diagnosis and early treatment.