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近端脊髓性肌萎缩症是常见的常染色体隐性遗传病,患儿四肢和躯干肌肉进行性无力和萎缩,常死于呼吸衰竭。疾病的发病时间和临床病程呈广泛的异质性。基因诊断是特异性和非创伤性的诊断方法。现就近端脊髓性肌萎缩症的临床分型和基因诊断进行阐述。
Proximal spinal muscular atrophy is a common autosomal recessive disease in children with limb weakness and torso muscle weakness and atrophy, often died of respiratory failure. The onset of disease and clinical course showed a wide range of heterogeneity. Genetic diagnosis is a specific and non-invasive diagnostic method. Now on the proximal spinal muscular atrophy clinical classification and genetic diagnosis are described.