Ben Simon G, Felberg I, Sadeh M, Farfel Z
Dept. of Medicine E, Chaim Sheba Medical Center, Tel Hashomer.
Harefuah. 1995 Feb 15;128(4):220-1, 263.
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.
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。
