论文部分内容阅读
Becker型肌营养不良〈BMD〉发病较Duchenne型肌营养不良〈DMD〉晚且进展较慢,但在遗传方式上以及病肌的分布上与DMD相似。后者常有心肌受累,而BMD中至今尚缺乏心脏损害的报道。作者报告了伴有严重心肌病的一个家系。例1:男,16岁。9岁时出现小腿痉挛,10岁时发现其腓肠肌肥大,并有弓形足。体查发现近端肌肉无力,前臂和腓肠肌显著假性肥大,弓形足,踝反射减弱,无心脏扩大及杂音。血清肌酸激酶显著升高(5181 mIu)。肌电图示前臂肌肉短时程低波幅的肌电活动。胸片示心脏正常。心电图发现V_1、V_2导联R波增高,Ⅱ、Ⅲ、AVF导联中出现q波。心
Becker muscular dystrophy (BMD) develops later and progresses more slowly than Duchenne muscular dystrophy (DMD), but is genetically similar to DMD in diseased muscle distribution. The latter often involves myocardial involvement, and heart failure has not been reported in BMD so far. The authors report a pedigree with severe cardiomyopathy. Example 1: Male, 16 years old. Hemospasm occurs at the age of 9 years, and gastrocnemius hypertrophy is found at 10 years of age with a bow-shaped foot. Physical examination found that the proximal muscle weakness, forearm and gastrocnemius significant pseudo-hypertrophy, bow-shaped foot, weakened ankle reflex, no heart enlargement and noise. Serum creatine kinase was significantly elevated (5181 mIu). EMG shows short-term, low-amplitude EMG of forearm muscles. Chest radiograph shows normal heart. ECG found V_1, V_2 lead R wave increased, Ⅱ, Ⅲ, AVF leads appear q wave. heart