肯尼迪病的研究进展

The Research Advances of Kennedy Disease

肯尼迪病是由于X染色体上雄激素受体基因的CAG重复序列增多所致。主要临床表现为以缓慢进展的肌无力和肢体、延髓部及面部肌肉萎缩。本文主要对肯尼迪病的致病基因、发病机制、临床特征、辅助检查、诊断及治疗进展进行回顾及展望。

Kennedy disease, as spinal and bulbar muscular atrophy （SBMA）, is caused by a CAG-repeat expansion in the first exon of the androgen receptor （AR） gene on the X-chromosome. The main clinical features of the disease are slowly progressive muscle weakness, atrophy of bulbar, facial and limb muscles. Advances in the etiology, pathogenesis, clinical manifestation, auxiliary examination, diagnosis and therapy are reviewed.