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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’s disease is due to an increase in CAG repeats of the androgen receptor gene on the X chromosome. The main clinical manifestations of slow progress in muscle weakness and limbs, medullary and facial muscle atrophy. This article mainly reviews the pathogenic genes, pathogenesis, clinical features, auxiliary examination, diagnosis and treatment progress of Kennedy disease.