Duchenne肌营养不良的临床表现及诊断治疗进展

Duchenne肌营养不良（Duchenne muscular dystrophy, DMD）是由编码抗肌萎缩蛋白（Dystrophy）基因突变所致的X 连锁隐性遗传病，主要表现为进行性对称性骨骼肌无力和萎缩，儿童DMD起病隐匿，临床表现多样，存在运动症状和非运动性症状，容易误诊为其他疾病。在过去的20年中，针对DMD发病机制的基因治疗取得了巨大的进展，其中外显子跳跃、无义突变通读、腺相关病毒介导的基因替代以及CRISPR 基因编辑技术等新型方法是目前治疗研究的热点，正在成为治疗 DMD 的最佳手段。

Department of Neurology,the Second Hospital of Hebei Medical University,Shijiazhuang 050017, China

Duchenne muscular dystrophy (DMD) is an X linked recessive disorder caused by dystrophin gene mutations. It is characterized by progressive symmetrical skeletal muscle weakness and atrophy, and easy to be misdiagnosed on account of hidden onset in children and various clinical manifestations, including motor and non motor symptoms. Progress in the development of DMD gene therapy has been well made over the past 20 years. Numerous of researches are focused on exon skipping, nonsense readthrough, adeno associated virus mediated micro/mini dystrophin gene delivery and gene editing using the CRISPR/Cas9 system. These innovative therapies are becoming the best means to treat DMD.