Domitrz I, Jedrzejowska M, Lipowska M, Siddique T, Kwieciński H
Klinika Neurologii Akademii Medycznej w Warszawie.
Neurol Neurochir Pol. 2001;35(1 Suppl):107-14.
Kennedy's disease is a rare X-linked spinal and bulbar muscular atrophy (SBMA). A degenerative process of the motor neurons is associated with an increase in the number of CAG repeats encoding a polyglutamine stretch within the androgen receptor. Despite a distinctive clinical phenotype, SBMA can be misdiagnosed, usually due to the lack of clear family history. Accurate diagnosis is important for genetic counseling and because alternative diagnosis of amyotrophic lateral sclerosis usually means much worse prognosis. We report 2 unrelated patients with Kennedy's disease in whom the clinical diagnosis was confirmed by showing the CAG repeat expansion.
肯尼迪病是一种罕见的X连锁脊髓延髓肌萎缩症（SBMA）。运动神经元的退行性变过程与雄激素受体中编码多聚谷氨酰胺延伸的CAG重复序列数量增加有关。尽管有独特的临床表型，但SBMA仍可能被误诊，通常是由于缺乏明确的家族史。准确诊断对于遗传咨询很重要，因为肌萎缩侧索硬化症的其他诊断通常意味着预后更差。我们报告了2例不相关的肯尼迪病患者，通过显示CAG重复序列扩增证实了临床诊断。
