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目的探讨儿童型脊肌萎缩症(CSMA)的临床特点。方法回顾性分析11例CSMA患者的临床资料。结果本组患者平均发病年龄为(6.1±5.5)岁,均为慢性起病,主要临床表现为四肢无力、变细及行走不稳;血清肌酶水平5例轻度升高;肌电图检查结果显示8例为神经源性损害,3例未见异常;肌肉病理学检查显示11例患者均出现肌纤维大小不等,10例出现程度不等的肌纤维类型群组化,8例核内移纤维,7例小角化纤维和6例靶纤维。结论 CSMA临床特征为儿童期出现的四肢无力和肌萎缩,肌肉神经电生理学及病理学特征是神经源性损害。
Objective To investigate the clinical features of children with spinal muscular atrophy (CSMA). Methods The clinical data of 11 CSMA patients were retrospectively analyzed. Results The mean age at onset of this group was (6.1 ± 5.5) years old, both of which were chronic onset. The main clinical manifestations were weakness, thinning and walking instability of limbs; slight increase of serum muscle enzyme level in 5 cases; EMG test results 8 cases showed neurogenic damage, and 3 cases showed no abnormality. Muscle pathology examination showed that all 11 cases showed muscle fiber sizes ranging from 10 cases to groups with different degrees of muscle fiber type, 8 cases of nuclear transfer of fiber, 7 cases of keratin fibers and 6 cases of target fibers. Conclusion The clinical features of CSMA are limb weakness and muscle atrophy in childhood. The electrophysiological and pathological features of muscle nerves are neurogenic lesions.