Blumen S C, Nisipeanu P, Sadeh M, Asherov A, Tomé F M, Korczyn A D
Department of Neurology, Hillel Yaffe Medical Center, Hadera, Israel.
Neuromuscul Disord. 1993 Sep-Nov;3(5-6):575-7. doi: 10.1016/0960-8966(93)90119-5.
Oculopharyngeal muscular dystrophy (OPMD), a late onset autosomal dominant myopathy, is common among the French-Canadians and the Jews from Bukhara (Uzbekistan); most clinical histologic and genetic data published until now, as well as the recently suggested diagnostic criteria, are based on studies among the former. We studied 79 patients with OPMD belonging to the newly described Jewish-Bukhara cluster. The disease began between the ages of 21 and 78 yr (median 53 yr). In 11 patients (15%) it began before the age of 40. Ptosis was the first symptom in 59 patients and dysphagia in the remaining 20. Eight patients (10%) were monosymptomatic (ptosis) after more than 7 yr from the start of the disease; however, other family members had additional signs/symptoms. The patients belong to 29 families; in 26 age-dependent autosomal dominant inheritance could be documented. Among them there is certain evidence for genetic anticipation. This clinical study is the largest published concerning patients other than French-Canadians.
眼咽型肌营养不良症（OPMD）是一种迟发性常染色体显性肌病，在法裔加拿大人和来自布哈拉（乌兹别克斯坦）的犹太人中较为常见；迄今为止发表的大多数临床组织学和遗传学数据，以及最近提出的诊断标准，都是基于对前者的研究。我们研究了79例属于新描述的布哈拉犹太人群体的OPMD患者。发病年龄在21岁至78岁之间（中位年龄53岁）。11例患者（15%）在40岁之前发病。59例患者的首发症状为上睑下垂，其余20例为吞咽困难。8例患者（10%）在疾病开始超过7年后出现单症状（上睑下垂）；然而，其他家庭成员有额外的体征/症状。这些患者属于29个家族；在26个家族中可以记录到年龄依赖性常染色体显性遗传。其中有遗传早现的明确证据。这项临床研究是除法裔加拿大人之外发表的关于该疾病患者的最大规模研究。
