肌酸磷酸激酶增高的脊髓性肌萎缩症10例临床与肌电图分析(英文)

Clinical and electromyographical study on 10 cases of spinal muscular atrophy associated by elevated plasma creatine kinase

目的:总结血清肌酸磷酸激酶(creatinekinase,CK)增高的脊髓性肌萎缩(spinalmuscularatrophy,SMA)临床与肌电图的关系及临床意义。方法:收集10例CK增高的SMA病例,进行临床及肌电图分析,其中6例作了肌肉活检。结果:CK增高可见于脊髓性肌萎缩各型,升高的程度各有不同。肌电图检查除2例为混和性损害外,余均为神经源性损害。肌肉病理检查除1例为肌性改变外,余均为神经源性肌萎缩。结论:CK增高不能作为SMA与进行性肌营养不良的鉴别诊断指标,必须结合肌电图与肌肉活检。在诊断SMA时,当肌活检为肌性损害,反复多次的肌电图的结果更可靠;当肌电图结果不明确时,肌活检结果为确定诊断的最可靠依据。

AIM:To study the relationship between electromyography(EMG) diagnoses and clinical presentations in spinal muscular atrophy(SMA) associated with elevated plasma creatine kinase(CK). METHODS:Clinical evaluation and EMG were performed on 10 patients with SMA associated with elevated CK.Muscle biopsy was taken from 6 of the 10 cases. RESULTS:Elevated CK at different level was detected in various type of SMA. EMG showed that 8 cases were neurogenic SMA,and 2 cases were mixed injury.Histomorphological examination demonstrated 1 case of myogenic atrophy and 5 cases of neurogenic atrophy. CONCLUSION:Elevated CK cannot be used as the diagnostic marker for differentiating SMA from progressive muscular dystrophy.Diagnosis should be made after examinations of CK,EMG and muscle biopsy.Repeated EMG results are more reliable for a diagnosis of myogenic atrophy.Biopsy results can provide reliable evidences for diagnosis when EMG is not typical.