Expression of X-linked bulbospinal muscular atrophy (Kennedy disease) in two homozygous women
Expression of X-linked bulbospinal muscular atrophy (Kennedy disease) in two homozygous women
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DOI：
10.1212/wnl.59.5.770
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发表时间：
2002-09-10
期刊：
影响因子：
9.9
通讯作者：
Spriggs, EL
中科院分区：
文献类型：
--
作者：
Schmidt, BJ;Greenberg, CR;Spriggs, EL
作者描述了雄激素受体CAG扩增纯合性的新发生，导致两姐妹篇（34岁和42岁）患肯尼迪病。症状仅限于偶尔的肌肉痉挛和抽搐。除了两名女性的轻度手震颤和哥哥姐姐的罕见口周肌束震颤外，体格检查均正常。电诊断研究是正常的，除了在哥哥的胸锁乳突肌轻度运动轴突损失的证据。
The authors describe the novel occurrence of homozygosity for the CAG expansion in the androgen receptor gone causing Kennedy disease in two sisters (ages 34 and 42). Symptoms were limited to occasional muscle cramps and twitches. Physical examinations were normal apart from mild hand tremor in both women and rare perioral fasciculations in the older sibling. Electrodiagnostic studies were normal except for evidence of mild motor axonal loss in the sternocleidomastoid muscle of the older sibling.