杜氏肌营养不良携带者的诊断与早期干预

Diagnosis and early intervention in Duchenne muscular dystrophy carriers.

杜氏肌营养不良(Duchenne muscular dystrophy,DMD)是儿童最常见的遗传性肌肉病,患儿常在成年后死于心肺并发症,目前尚无有效治疗手段,准确的患者和携带者基因检测和产前筛查,是根本上降低发病率的关键所在。

Duchenne muscular dystrophy is the most common hereditary muscular disease,and most patient died fromheart and pulmonary failure around 20 years old. As there is no curable treatment for this disease so far,the effectiveway to reduce the morbidity is accurate gene diagnosis in both patients and carriers.