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文章报道24例慢性脊髓性肌萎缩症,其中婴儿型、少年型、成年型慢性近端型分别为5例、2例及13例,面肩肱型2例,远端型和肩腓型各1例。本病主要临床表现为肌无力、肌萎缩和不同程度的肌束震颤,锥体束和周围神经一般不受累。各型肌萎缩的部位不同。3例患者伴有CPK浓度增高。除2例肌电图正常外,其余表现为失神经性改变。光镜提示神经原性萎缩。电镜下见肌原纤维数量减少,Z线变粗或波浪状以及线粒体和内质网肿胀。
The article reports 24 cases of chronic spinal muscular atrophy, of which infantile, juvenile, adult chronic proximal type were 5 cases, 2 cases and 13 cases, 2 cases of face and shoulder humerus, distal and shoulder type 1 case. The main clinical manifestations of this disease are weakness, muscle atrophy and varying degrees of fasciculation, pyramidal tract and peripheral nerves are generally not involved. Different types of muscle atrophy of the site. Three patients had elevated CPK levels. In addition to 2 cases of normal EMG, the remaining performance for the loss of neurological changes. Light microscopy prompted neurogenic atrophy. Electron microscope, see the number of myofibrillar, Z line thicker or wavy and mitochondria and endoplasmic reticulum swelling.