【摘要】 目的 探讨Duchenne型肌营养不良症(DMD)受累肌肉的选择性及各项实验室检查的诊断价值。方法 回顾分析了临床确诊DMD31例。结果 在上述31例中,表现为缓慢起病,进行性加重的肌肉萎缩与无力,近端肌群重于远端肌群,下肢重于上肢,伸肌重于屈肌。各项血清肌酶检查有不同程度增高,且肌酸激酶(CK)均有增高(100％)。肌电图及肌肉活检均为肌原性损害(100％)。5例行24小时尿内肌酸含量测定,有4例增高。3例行脑脊液检查2例见蛋白含量增高,且蛋白电泳有前白蛋白增高,γ球蛋白下降。结论 肌无力有明显选择性。血清酶学、肌电图及肌肉活检检查是诊断DMD重要的辅助检查,CK在血清酶学检查中最有价值。更多还原

【Abstract】 Objective To study affected muscle selectivity and main laboratorial examination value of duchenne muscular dystrophy(DMD). Methods 31 clinically definite DMD cases were retrospectively studied . Results In these 31 cases, they were characterized by slowly progressive muscle wasting and weakness. Upper extremity muscles were stronger than lower extremity muscles, proximal muscle groups were weaker than distal muscle groups and extensor muscles were weaker than flexor muscles. The serum creatine kinase values had a raise. Electromyography and muscle biopsy showed myogenic abnormality (100%). Conclusions The distribution of muscle wasting and weakness had distinctive selectivity. Serum creatine kinase、electromyography and muscle biopsy play an important role in diagnosis DMD.更多还原