脊髓延髓肌萎缩症临床及电生理特点分析

目的分析5例脊髓延髓肌萎缩症患者的临床特征,以便临床医生对该病的认识。方法收集基因确诊的5例脊髓延髓肌萎缩症患者的临床资料,分析其临床特点及血清性激素、各生化指标水平、脑脊液及肌电图特点。结果脊髓延髓肌萎缩症患者青年发病,病情进展缓慢。神经系统表现为以肢体近端和延髓部受累为主的瘫痪。舌肌受累较早,运动功能损害较轻。血清睾酮(969.3±234.9ng/dl)、雌二醇(57.1±5.3pg/ml)水平增高,男性乳腺发育出现在病史较长的患者。三核苷酸(CAG)重复序列数目43～51(平均47.2±3.6pg/ml)。患者的肌酸激酶(CK,481.8±264.8 IU/L)均增高,脑脊液检查均正常。肌电图为广泛神经源性损害。结论脊髓延髓肌萎缩症患者的早期症状不典型,易误诊,临床特征为青年起病,缓慢加重,以肢体近端无力为主的瘫痪。

The clinical and electrophysiological features of patients with spinal and bulbar muscular atrophy

Objective To analyze the clinical features of 5 Chinese patients with spinal and bulbar muscular atrophy （SBMA）, a sex-linked inheritance disorder. Methods We collected the clinical data of 5 SBMA patients whose diagnosis were confirmed by gene examination to analyze their clinical features, as well as their serum levels of sex hormones, CSF, biochemical indicators and electromyogram. Results Patients with spinal and hulbar and muscular atrophy tend to have an adult onset, exhibiting a slow progression of lower motor neuronal weakness and atrophy involving limbs and bulbar zones. There was mild motor functional lesion. Part of the invalids presented signs of androgen insensitivity such as gynecomastia, the level of testosterone were increased. CAG were 43-51 （ mean 47.2 ±3.6）. The degrees of creatine kinase（481.8 ± 264.8 IU/L） were increased mildly. CSF were normal. Eleetromyogram had generally ehangbs derived from lower motor neuron. Conclusions Basically, the clinical features of Chinese SBMA patients presents adult onset, slow progression of lower motor neuronal weakness and atrophy involving limbs and hulbar zones.