成人型脊髓性肌萎缩症的骨骼肌病理与肌萎缩的关系

背景:脊髓性肌萎缩症是运动神经元疾病中病变仅影响下运动神经元的一组疾病。成人型少见,目前对其研究较少。目的:总结成人型脊髓性肌萎缩症骨骼肌病理学特征。设计:以诊断为依据的回顾性研究。地点和对象:收集1998-02/2002-02在解放军第八一医院南京医学院第二附属医院和南京军区总医院经肌肉活检确诊的、有完整临床资料的门诊和住院患者共46例。方法:结合临床特征及病理学改变进行分析。主要观察指标:病史、家族史、完整体格检查、相关血液及血生化、肌电图和肌肉活检。结果:临床表现为进行性对称性肢体近端肌萎缩,肌无力,实验室检查血肌酸磷酸肌酶12例中轻度升高,肌电图检查2例正常,3例呈轻度肌源性损害,余37例呈神经元性损害,肌活检主要为小群性肌萎缩,腺苷三磷酸酶染色见同型肌群化及肌纤维代偿性肥大。结论:肌活检对成人型脊髓性肌萎缩症具有诊断和鉴别诊断意义。适当、持久的康复锻炼可能对维持患者的运动功能有帮助。

Relationship between the pathology of skeletal muscle and muscular atrophy in adult spinal muscular atrophy

BACKGROUND: Spinal muscular atrophy is a group of diseases in motor neuronal diseases that only affect lower motor neurons, of which adult type is very rare and thereby only few researches available at present.OBJECTIVE: To summarize the pathological features of skeletal muscle in adult spinal muscular atrophy.DESIGN: A retrospective study based on diagnosis.SETTING and PARTICIPANTS: Totally 46 cases from outpatient and inpatient departments during February 1998 to February 2002 of the 81 Hospital of Chinese PLA with confirmed muscular biopsy and complete clinical data were collected.INTERVENTIONS: Combined analysis with clinical features and pathological changes.MAIN OUTCOME MEASURES: Case history, family history, complete physical examination, relative blood and blood biochemistry, electromyogram (EMG) and muscle biopsy.RESULTS: The clinical manifestations were progressive identical proximal muscular atrophy and myasthenia. Laboratorial test revealed 12 cases had mild increase in creatine phosphokinase(CPK). EMG exam indicated 2 normai cases, 3 mild muscle-derived damaging cases and 37 nerve-derived damaging cases. Muscle biopsy mainly showed small groups of muscular atrophy. ATP staining revealed isotype muscle grouping and muscle fibre compensative hypertrophy.CONCLUSION: Muscle biopsy has significances in diagnosis and differentiation of adult spinal muscular atrophy. Proper and permanent rehabilitation are helpful in maintaining the motor function of the patients.