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先天性肌病虽无严格的定义,但可以认为是从新生儿期和婴儿期开始出现肌张力低下和肌力低下等症状的非进行性肌病。即使是同一先天性肌病,在发育各阶段症状的轻重也不同,诊断时应予以注意。下面就有代表性的先天性肌病进行叙述。线粒体肌病线粒体肌病多在婴、幼儿期发病,临床上分为以骨骼肌改变和以神经系统为主的多种症状。除活检做组织化学检查外,测定电子传递酶以证明线粒体酶缺欠。有的病理上肌肉线粒
Although there is no strict definition of congenital myopathy, but can be considered from the neonatal and infancy, low muscle tension and muscle weakness and other symptoms of non-progressive myopathy. Even if the same congenital myopathy, the severity of symptoms in different stages of development is also different, diagnosis should be noted. The following is a representative description of congenital myopathy. Mitochondrial myopathy Mitochondrial myopathy and more in infants, early childhood disease, clinically divided into skeletal muscle changes and to the nervous system-based a variety of symptoms. In addition to biopsy histochemical examination, the determination of electron transfer enzyme to prove mitochondrial enzyme deficiency. Some pathological muscle mitochondria