46例成人型脊髓性肌萎缩症临床及病理分析

目的 总结成人型脊髓性肌萎缩症（SMA4）的临床与病理学特征。方法 收集46例经肌肉活检证实的SMA4病例进行临床和病理学分析。结果 SMA4平均发病年龄38.7岁，起病与进展隐袭，预后相对良好；肌无力及肌萎缩以四肢近端为主；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 根据临床表现，结合肌肉活检，可为确诊SMA4提供可靠依据。

Clinical and pathological analysis of 46 cases of adult spinal muscular atrophy

Objective To summarize the clinical and muscular pathological features of adult spinal muscular atrophy(SMA4).Methods Forty-six cases of SMA4 were evaluated by clinical,electrophysiological and histological studies.Results SMA4 onset occurred at the mean age of 38.7 years,progressing slowly and having a good prognosis.The disease showed proximal weakness and wasting of the extremities.The CPK levels were elevated slightly in about one-fourth of the cases.The EMG revealed neurogenic changes.Muscle biopsy showed:small groups atrophy mainly;extensive fiber type grouping and more hypertrophic fibers by ATP enzyme staining.Conclusion SMA4 could be diagnosed by the clinical manifestations and muscle biopsy.