目的：探讨骨骼肌病理对运动神经元病诊断与鉴别诊断的价值。方法收集112例运动神经元病患者的临床、神经电生理及活检骨骼肌病理资料，进行诊断与鉴别诊断分析。结果①入选患者均有肢体无力、肌萎缩，吞咽或呼吸肌无力43例，舌肌萎缩或纤颤50例，伴有肌束震颤69例，初诊伴有上运动神经元受损征78例；②肌电图呈神经源性异常；③临床确诊肌萎缩侧索硬化（ ALS ）90例（初诊78例、复诊/随访后12例），脊髓性肌萎缩症（SMA）22例，其中肯尼迪病7例；④骨骼肌病理均符合神经源肌病改变，ALS多见小角化肌纤维、核聚集、靶纤维；成人型SMA以小圆形肌纤维在肌束内小群分布为特点，其中肯尼迪病萎缩小圆形肌纤维、核聚集多在肌束间分布。结论①仅表现下运动神经元受累的MND，行骨骼肌活检病理分析有助ALS与SMA的诊断与鉴别诊断；②随诊、动态观察体征与病情进展变化可助ALS确诊。%Objective Study the significance of skeletal muscle biopsy in the diagnosis of motor neuron disease.Methods Collected the clinical data of 112 cases diagnosed with motor neuron diseases , and investigated the features of clinical manifestations , laboratory examination , electrophysiology and pathology of skeletal muscle biopsy.Results ①All cases are characterized by muscle weakness and muscle atrophy .43 cases presented with dysphagia or respiratory failure;50 cases presented with tongue muscle atrophy and fibrillation; Fasciculations were observed in 69 patients; 78 cases presented with pyramidal tract signs at onset .②All cases are characterized by neurogenic abnormalities based on electromyography .③90 cases were diagnosed as clinical definite ALS .44 cases were diagnosed as spinal muscular atrophy , including 7 cases of Kennedy disease .④The skeletal muscle pathology of all the 112 MND cases showed neurogenic skeletal myopathy change .The main pathology of ALS includes small angular fibers, nuclear aggregation and target fibers .That of adult type SMA includes muscle fiber group atrophy and atrophic muscle fiber rounding in muscle bundle , while rounding atrophic muscle fibers and nuclear aggregation of Kennedy disease were observed between muscle bundles .Conclusion ①The skeletal muscle biopsy is useful for diagnosis and differential diagnosis of ALS and SMA .②The follow-up, dynamic observation of signs and the progression are useful for diagnose of ALS .
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