【摘要】 肯尼迪病是一种罕见的、X连锁隐性遗传的神经肌肉病，以进行性肌无力为主要症状，目前全球已经注册和进行了多项临床试验针对肯尼迪病的治疗。文中总结了肯尼迪病的神经系统和全身临床特征，讨论肯尼迪病的发病机制，其基因基础是编码谷氨酰胺的雄激素受体基因中三核苷酸重复序列异常扩增，降低突变型雄激素受体的聚集被认为能改善肯尼迪病患者的运动功能。此外，文中对肯尼迪病药物治疗进展进行综述，醋酸亮丙瑞林在日本获批上市治疗肯尼迪病。目前的临床试验也发现了一些有潜力的药物。更多还原

【Abstract】 Kennedy’s disease, also known as spinal and bulbar muscular atrophy, is a rare, X-linked hereditary neuromuscular disorder characterized by progressive muscular weakness. At present, many clinical trials have been registered and carried out globally for the treatment of Kennedy’s disease. This paper summarized the neurological and systemic clinical features of Kennedy’s disease and discussed the pathogenesis of Kennedy’s disease. The genetic basis for Kennedy’s disease was identified as the abnormal amplification of trinucleotide repeat in the androgen receptor gene encoding glutamine. It is believed that reducing the accumulation of mutant androgen receptor can improve the motor function of Kennedy’s disease. The current drug treatment situation was reviewed. Leuprolide acetate has been approved for marketing in Japan to treat Kennedy’s disease, and current clinical trials have also found some potential drugs.更多还原