国际医药卫生导报2013，Vol.19Issue(13)：1989-1992,4.DOI:10.3760/cma.j.issn.1007-1245.2013.13.038
肯尼迪病的临床分析及分子遗传学诊断
The clinical and molecular genetic studies of Kennedy's disease
杨继党 1粱兵1
作者信息
- 1. 510260 广州医学院第二附属医院神经内科
- 折叠
摘要
Abstract
Objective To discuss the clinical features and diagnosis of Kennedy disease.Methods three patients were clinically diagnosed as having Kennedy disease on the basis of their clinical features including slowing progression of disease,symptoms,nervous system signs,electromyography and nerve conduction velocity results and family history.Their CAG number from the repetitive CAG sequence in the first exon of androgen receptor gene was determined suing PCR.Results Patients were mainly presented with the lower motor neuron damage in the proximal limb and bulbar,including muscle atrophy,weakness and tremors of limbs.Additional symptoms were tongue muscle atrophy and dysarthria.Some patients had increased endocrine symptoms and significantly high levels of serum creatine kinase.EMG detected a widespread neuronal damage and decreased amplitude of SCV in all cases.There was a loss of myelinated fiber in nerve biosy.The CAG repeat number in AR gene was from 48 to 58,respectively.Conclusions There are relatively unique clinical,neuropathysiological and neuropathological characteristics of KD,and its definite diagnosis should be made by genetic analysis.关键词
肯尼迪病/基因诊断/雄激素受体基因Key words
Kennedy's/Gene analysis/Androgen receptor gene引用本文复制引用
杨继党,粱兵..肯尼迪病的临床分析及分子遗传学诊断[J].国际医药卫生导报,2013,19(13):1989-1992,4.
