摘要
目的探讨肯尼迪病的临床特点。方法对3例肯尼迪病患者的临床资料进行回顾性分析。结果 3例患者均为中年男性。缓慢起病,表现为四肢近端和延髓肌无力、肌束颤,进行性加重;乳腺增生2例。血肌酸激酶均升高,睾酮水平升高2例。3例EMG均呈广泛神经源性损害,感觉神经传导异常2例。2例患者检测雄激素受体(AR)基因第1外显子的CAG重复数,分别为57、47。结论肯尼迪病的临床特点为男性患者出现全身肌无力和雄激素不敏感综合征,EMG呈运动神经元损害的表现。AR基因第1外显子的CAG重复数显著增多。
Objective To explore the clinical features of Kennedy disease .Methods The clinical data of 3 patients with Kennedy disease was respectively analyzed .Results All three patients were middle-aged male and had a chronic onset .Patients were mainly presented with the muscle weakness and fasciculation in the proximal limb and bulbar , and the symptoms grow progressively .Two patients were hyperplasia of mammary glands , 3 patients had high levels of serum creatine kinase , and 2 patients＆#39;serum testosterone level was increased .EMG detected a widespread neuronal damage in all three cases , and the sensory conductions were abnormal in 2 patients.Repeat numbers of CAG in exon 1 of androgen receptor gene of 2 patients were tested, and they were 57, 47 respectively.Conclusions The clinical features of Kennedy disease are muscle weakness and androgen insensitivity syndrome in male patient and EMG presented with motor neuron damaged .Repeat number of CAG in exon 1 of androgen receptor gene is increased.
出处
《临床神经病学杂志》
CAS
北大核心
2014年第3期179-181,共3页
Journal of Clinical Neurology
关键词
肯尼迪病
雄激素受体
临床特点
基因检测
Kennedy disease
androgen receptor
clinical features
gene detection
