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Neurology：遗传性颏震颤

2018-09-06 zyx整理 神经科病例撷英拾粹

颏震颤遗传运动障碍
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22岁男性，近6月来表现为不自主低幅度和高频率的垂直性颏（下巴）震颤（视频1-2），每天持续长达数小时。这一现象最早在患者婴儿期被注意到，在情绪悲伤时出现。患者兄弟，父亲和姑妈都有类似的发作性颏运动。

22岁男性，近6月来表现为不自主低幅度和高频率的垂直性颏（下巴）震颤（视频1-2），每天持续长达数小时。这一现象最早在患者婴儿期被注意到，在情绪悲伤时出现。患者兄弟，父亲和姑妈都有类似的发作性颏运动。

遗传性颏震颤（hereditary chin trembling）或颏痉挛（geniospasm），是一种非常罕见的常染色体显性遗传运动障碍，具有遗传异质性。症状在出生或儿童期即出现，在成年早期最为突出，且常随着年龄的增长而改善。 这一潜在的高度选择性颏受累的病理生理学机制仍不清楚。下巴注射肉毒毒素是最有效的治疗方法。





（A：不自主的低幅度高频率垂直性颏震颤；患者的言语不受累，余神经系统查体正常；B：颏肌表面肌电图提示9Hz的震颤频率）

原始出处：Abbas A1, Mytheen NS2. Teaching Video NeuroImages: Hereditary chin trembling. Neurology. 2018 Aug 21;91(8):e792. 

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    2019-02-01 般若傻瓜

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    2018-12-30 xue8602

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    2019-03-21 yinhl1978

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    2018-09-08 kalseyzl

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