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[西班牙西部一个家族中的遗传性下巴震颤]

[Hereditary quivering of the chin in a West Spanish family].

作者信息

Becker H

出版信息

Arch Psychiatr Nervenkr (1970). 1982;231(6):509-18. doi: 10.1007/BF00343994.

Abstract

An unusual hereditary tremor which affects only the m. mentalis is reported. In four generations of a West Spanish family 20 members exhibited the symptom. It presents a quick rhythmic contractions of the m. mentalis with a frequency of 6-11/s. The amplitude varies greatly. The trembling of the chin appears at intervals from birth and may last seconds or minutes with shorter or longer asymptomatic periods. Stress or excitement can cause or intensify the symptoms. The quivering of the chin found in this West Spanish family does not differ from that described in 11 other families reported in the literature. They are all clinically identical with each other, and in the 12 families the symptom follows an autosomal dominant mode of inheritance. The penetrance is slightly reduced, and both sexes are equally affected. It is not serious, but for the patients it is a rather tedious anomaly which is hardly ever reported to a physician.

摘要

据报道,有一种罕见的遗传性震颤仅累及颏肌。在一个西班牙西部家庭的四代人中,有20名成员出现了该症状。其表现为颏肌快速有节律的收缩,频率为6 - 11次/秒。幅度变化很大。下巴颤抖自出生起就间歇性出现,可能持续数秒或数分钟,无症状期长短不一。压力或兴奋会导致或加重症状。在这个西班牙西部家庭中发现的下巴颤抖与文献中报道的其他11个家庭所描述的并无不同。它们在临床上彼此相同,在这12个家庭中,该症状遵循常染色体显性遗传模式。外显率略有降低,男女受影响程度相同。这并不严重,但对患者来说却是一种相当烦人的异常情况,很少会告知医生。

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