摘要：
Dystrophinopathy is a group of inherited diseases caused by the defect of dystrophin protein with X-linked recessive inheritance.The disease is clinically characterized by progressive severe muscles weakness and atrophy of proximal limb muscles and belt muscle,gastrocnemius pseudohypertrophy.The patient lose the ability of daily exercise,and ultimately succumb to restrictive lung disease or cardiac death.According to the clinical manifestations and the defect degree of dystrophin protein,dystrophinopathy is divided into:Duchenne muscular dystrophy (DMD),Becker muscular dystrophy,X-linked dilated cardiomyopathy,and female carrier of DMD.Patients can present with multi-system involvement at different stages of the disease,which require multidisciplinary management to alleviate symptoms,prolong life and improve quality of life.Glucocorticoids can significantly extend the independent activity of children by 2-5 years.Due to the high incidence,poor quality of life in the early stage and high disability and lethality in the late stage,it is important to strengthen the understanding of neurologists about this disease and conduct early diagnosis,full management and genetic counseling.%抗肌萎缩蛋白病(dystrophinopathy)是由迪谢内肌营养不良(Duchenne muscular dystrophy,DMD)基因变异导致的dystrophin蛋白缺陷引起的遗传骨骼肌疾病,呈X连锁隐性遗传,主要临床表现为进行性加重四肢近端肌及腰带肌无力、萎缩,腓肠肌肥大,严重影响日常运动能力,病程晚期累及呼吸肌、心肌致患者死亡.根据临床表现和dystrophin蛋白缺陷程度,抗肌萎缩蛋白病分为:DMD、贝克型肌营养不良、X连锁扩张型心肌病、女性DMD变异携带者.患者在病程不同时期可出现多系统受累,糖皮质激素可显著延长患儿独立活动时间2～5年,抗肌萎缩蛋白病需要多学科综合管理,以减轻患者症状、延长生命、改善生活质量为目标.在遗传性骨骼肌疾病中,抗肌萎缩蛋白病发病率高,早期影响患者的生活质量,晚期病情严重可致残、致死.因此,提高神经内科医生对本病的认识,做到早期诊断、全程管理、遗传咨询至关重要.
