慢性脊髓性肌萎缩症的临床和肌活检

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。

Clinical and Muscle Biopsy Studies of 2 4 Patients With Chronic Spinal Muscular Atrophy

A report was made focussing on the clinicopathological findings with muscle biopsy in 24 cases of chronic spinal muscular atrophy, of which proximal SMA, distal SMA, scapulo-peroneal .SMA,and facioscapulohmeral SMA were 20,1,1, 2 cases respectively. The main manifestations consisted of musle weakness,muscular atrophy with various degree fasciculations,but without evidence of long tract or peripheral nerve involvement.The locations of affected muscles are different for various types, There was a CPK level elevation in 3 cases. The denervating changes were demonstrated in EMG in all patients but two. The light microscope disclosed a picture of neurogenic atrophy, and the electron microscope revealed a reduction of myofibrils, thickening and wavy appearence of z-lines and dilation of mitochondria and carcoplasmic reticulum.