Lee L V, Pascasio F M, Fuentes F D, Viterbo G H
Adv Neurol. 1976;14:137-51.
There is an unusually high frequency of torsion dystonia in Panay. Of the 28 Filipino cases, 23 (82%) are from the island of Panay and 19 of the 23 (82%) are from the province of Capiz. The 28 cases belong to 25 families Six sets of brothers are noted. All are males. Pedigree analysis reveals six families with several members affected. Two families show features suggesting possible sex-linked recessive transmission, a mode of inheritance previously undescribed in the literature. The clinical features of the cases seen in this series differ from previously described cases in the literature in several aspects: (a) sex preponderance--all males; (b) age at onset--older age of onset, mean of 31; (c) hereditary--possible sex-linked recessive transmission; (d) spasmodic eye blinking as first symptom in four patients.
班乃岛扭转性肌张力障碍的发病率异常高。在28例菲律宾病例中,23例(82%)来自班乃岛,其中19例(82%)来自卡皮斯省。这28例病例分属25个家庭,有6对兄弟患病,均为男性。系谱分析显示,有6个家庭中有多名成员患病。有两个家庭呈现出可能为X连锁隐性遗传的特征,这是一种此前文献中未描述过的遗传模式。本系列病例的临床特征在几个方面与文献中先前描述的病例有所不同:(a)性别倾向——均为男性;(b)发病年龄——发病年龄较大,平均为31岁;(c)遗传方式——可能为X连锁隐性遗传;(d)4例患者首发症状为痉挛性眨眼。