Objective To explore the elinical features of spinal and bulbar muscular atrophy(SBMA). Method The clinical data of 8 SBMA patients diagnosed by gene were analyzed retrospectively. Result All of the patients in ihis group were young middle-aped men. The initial symploin was weakness of lower limbs in 3 cases, myasthenia of limbs m 1 cast, harymastia in 2 cases, upper limbs postural tremor in 2 cases,. The main manifestations were progressive lower limbs and muscular atrophy. There was relatively serious in lower limbs, and the disease progresses slowly. All the patients have fascie, and upper limbs postural tremor was in 3 cases, tongue muscles atrophy and tremor in 5 cases, barymastia in 4 cases, and sexual function decrement in 2 cases. The serum creatine kinase was increased in all the patients, lipid abnormality in 5 cases, and sex hormones abnormality in 7 cases. Electromyogram (EMG) showed a wide range of neurogenic damage. The number of (CAG)n repeat in androgen receptors ( AR) gene was above 40. Conclusions SBMA shows a slowly progressing lower motor neuron paralysis and atrophy in spinal and bulbar muscles. The definite diagnosis of SBMA disease should he made by delecting the number of (CAG)n repeat of androgen receptor gene.%目的 探讨脊髓延髓肌肉萎缩症(SBMA)的临床特点.方法 对8例基因确诊的SBMA患者的临床资料进行回顾性分析.结果 本组患者均为中青年男性.首发症状为双下胺无力3例,四肢无力1例,乳房增大2例,双上肢姿位性震颤2例.主要临床表现为进行性肢体无力、肌肉萎缩,下肢重,病情进展缓慢.患者均出现束颤,出现双上肢姿位性震颤3例,舌肌萎缩和震颤5例,乳房增大4例,性功能减退2例.血清肌酸激酶均增高,血脂异常5例,性激素水平异常7例.肌电图均呈广泛神经源性损害.雄激素受体(AR)基因CAG重复序列数均＞40次.结论 SBMA主要表现为缓慢进展的脊髓和延髓下运动神经元性瘫痪,确诊有赖于AR基因CAC重复序列的检测.
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