成人型脊髓性肌萎缩症临床分析(附46例报告)

目的总结分析成人型脊髓性肌萎缩症(SMA4)的临床特征。方法收集46例经肌肉活检证实的SMA4病例进行临床资料回顾性分析。结果SMA4起病隐袭,进展缓慢,肌无力以四肢近端为主,无锥体束受累。约四分之一患者血清CPK轻度升高;EMG示神经源性损害;肌活检主要为小群性肌萎缩,ATP酶染色见同型肌群化及肌纤维代偿性肥大。结论SMA4是病变影响下运动神经元的一组独立性疾病,并非为肌萎缩侧索硬化的某一发展阶段。预后相对良好。

Clinical analysis of 46 patients with adult spinal muscular atrophy

Objective To sum up the clinical characteristics of 46 patients with adult spinal muscular atrophy (SMA4). Methods Analysis were retrospectively performed by collecting between biopsy samples and clinical data of 46 patients with SMA4. Results SMA4 often begins without obvious clinical symptoms,but with slower progression. The weakness and atrophy were often located in proximally affected lambs,yet pyramidal tract signs was unusually seen. The CPK levels were slightly elevated in 1/4 patients with SMA4. Besides with EMG of nerve-derived impairment ,they were found with pathological characteristic of atrophy in small muscule groups. Extensive fiber type grouping and more hyperatrophy could be seen in the biopsy samples by using ATP enzyme staining. Conclusion SMA4 may not be a subtype of ALS,but is a specific disease which brings about the local impairment of lower motor neurons. On the whole,SMA4 often has a better prognosis.