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进行性肌营养不良症是一种遗传性进行性肌肉变性疾病,表现为肌肉进行性加重的萎缩和无力,主要由基因缺陷造成。近10几年来,由于分子生物技术及遗传基因、生物化学、组织化学、酶学等研究的迅速发展,对肌营养不良症的遗传基因的诊断敏感特异,且方法简便快速,大体分为:X染色体稳定遗传的良型;常染色体性遗传——一肩一肱型;常染色体稳定性的肢带型三个类型。X染色体稳定遗传的良型发病较高,病情较为严重,常早年致残导致死亡,也是遗传性肌萎缩中最有代表性的疾病。此病在欧美白人的男婴中发病率为1/3000至1/5000,在东欧国家则较低,日本为1/20000,我国的患病率约1/5000,多分布在山东、河南、河北、安徽等地。其中只有2/3的患者是由于上代的X染色体病变造成,即遗传而来,故造成的发病率是万分之一,其它1/3的发病是自身的X染色体产生突变(缺失或移位)而造成,对后代有遗传性。
Progressive muscular dystrophy is a hereditary progressive muscle degeneration that manifests itself in atrophy and weakness of the muscle progressive exacerbation and is mainly caused by genetic defects. In recent 10 years, due to the rapid development of molecular biotechnology and genetic, biochemistry, histochemistry, enzymology and other research, it is sensitive to the diagnosis of muscular dystrophy gene, and the method is simple and quick and can be divided into: X Chromosome stable hereditary good; autosomal hereditary - a shoulder-humeral type; autosomal stability of the limb-type three types. X-chromosome stable genetic higher incidence of benign, more serious condition, often lead to death in the early years of disability, but also the most common genetic atrophy in the disease. The incidence of this disease is 1/3000 to 1/5000 in European and American white male babies and low in Eastern European countries, and 1/20000 in Japan. The prevalence in China is about 1/5000, mostly in Shandong, Henan, Hebei, Anhui and other places. Only two-thirds of these patients are inherited from previous generations of X chromosome disease, resulting in an incidence of one ten-thousandth, and the other one-third are caused by mutations in their own X chromosome (deletions or shifts ) Caused by the heredity of future generations.