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[来自乌兹别克斯坦的一名犹太女性患伴吞咽困难的眼咽型肌营养不良症]

[Oculopharyngeal muscular dystrophy with dysphagia in a Jewess from Uzbekistan].

作者信息

Ben Simon G, Felberg I, Sadeh M, Farfel Z

机构信息

Dept. of Medicine E, Chaim Sheba Medical Center, Tel Hashomer.

出版信息

Harefuah. 1995 Feb 15;128(4):220-1, 263.

PMID:7744330
Abstract

An 82-year-old Jewish woman from Tashkent, Uzbekistan was hospitalized because of dysphagia and weight loss. Physical examination revealed bilateral ptosis. The diagnosis of the rare inherited disease oculopharyngeal muscular dystrophy was confirmed by electron microscopy of biopsied muscle. It has recently been found that the prevalence of the disease among Jews from Uzbekistan is very high. It should therefore be considered when such patients present with dysphagia, so invasive imaging procedures can be avoided.

摘要

一名来自乌兹别克斯坦塔什干的82岁犹太女性因吞咽困难和体重减轻入院。体格检查发现双侧上睑下垂。经活检肌肉的电子显微镜检查确诊为罕见的遗传性疾病眼咽型肌营养不良。最近发现,乌兹别克斯坦犹太人中该病的患病率非常高。因此,当此类患者出现吞咽困难时应考虑到该病,从而避免进行侵入性成像检查。

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