摘要
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。
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.
出处
《江苏医药》
CAS
CSCD
北大核心
2002年第11期804-806,F002,共4页
Jiangsu Medical Journal
