CAJ | 학술논문

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。
목적：탐토골격기병리대운동신경원병진단여감별진단적개치。방법수집112례운동신경원병환자적림상、신경전생리급활검골격기병리자료，진행진단여감별진단분석。결과①입선환자균유지체무력、기위축，탄인혹호흡기무력43례，설기위축혹섬전50례，반유기속진전69례，초진반유상운동신경원수손정78례；②기전도정신경원성이상；③림상학진기위축측색경화（ ALS ）90례（초진78례、복진/수방후12례），척수성기위축증（SMA）22례，기중긍니적병7례；④골격기병리균부합신경원기병개변，ALS다견소각화기섬유、핵취집、파섬유；성인형SMA이소원형기섬유재기속내소군분포위특점，기중긍니적병위축소원형기섬유、핵취집다재기속간분포。결론①부표현하운동신경원수루적MND，행골격기활검병리분석유조ALS여SMA적진단여감별진단；②수진、동태관찰체정여병정진전변화가조ALS학진。
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 .