中风与神经疾病杂志2024，Vol.41Issue(4)：365-368,4.DOI:10.19845/j.cnki.zfysjjbzz.2024.0071
肯尼迪病3例临床特征分析并文献复习
Clinical characteristics of Kennedy's disease:a report of three cases and literature review
摘要
Abstract
Objective To explore the clinical characteristics of Kennedy's disease(KD).Methods We reported three cases of KD confirmed by genetic testing admitted to the Department of Neurology of The First Affiliated Hospital of Henan University of Science and Technology.Based on their clinical manifestations,physical examination results,and auxiliary examination data as well as previous literature,we analyzed and summarized the clinical features of KD.Results The three male KD patients were aged 43-46 years.They mainly manifested with progressive slurred speech,limb weakness,tongue muscle atrophy with tremor,and breast development.Creatine kinase levels were increased and sex hormone levels were abnormal in all the patients.Electromyography showed extensive neurogenic damage with involve-ment of both motor and sensory nerves.Genetic testing detected over 40 CAG repeats in the androgen receptor gene in all the cases.Conclusion KD is a late-onset inherited motor neuron disease,which can involve multiple systems to cause various clinical manifestations.Genetic testing is needed for a definite diagnosis.关键词
肯尼迪病/脊髓延髓肌萎缩症/临床特征Key words
Kennedy's disease/Spinal and bulbar muscular atrophy/Clinical characteristics分类
医药卫生引用本文复制引用
柏亚真,张登科,杜敢琴,富奇志..肯尼迪病3例临床特征分析并文献复习[J].中风与神经疾病杂志,2024,41(4):365-368,4.基金项目
河南省重大科技专项(221100210500) （221100210500）
