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性连锁肌张力障碍帕金森病(XDP,DYT3,“Lubag”)的独特现象学。

The unique phenomenology of sex-linked dystonia parkinsonism (XDP, DYT3, "Lubag").

机构信息

Child Neuroscience Center, Philippine Children's Medical Center, Quezon City, Philippines.

出版信息

Int J Neurosci. 2011;121 Suppl 1:3-11. doi: 10.3109/00207454.2010.526728. Epub 2010 Nov 3.

Abstract

Sex-linked dystonia parkinsonism (XDP, DYT3, "Lubag") is an adult-onset, progressive, debilitating movement disorder first described in Filipino males from Panay Islands in 1975. XDP manifests predominantly as torsion dystonia, later combined with or sometimes replaced with parkinsonism. Within the Island of Panay, the prevalence rate is highest in the province of Capiz, where 1:4000 men suffer from the disorder. There is a high degree of penetrance and generalization. While women often serve as carriers, XDP is not limited to men. An updated XDP Philippine registry (as of January 2010) has identified 505 cases, with 500 males and 5 females. While some report that females may carry a milder form of the disorder, in our experience, both sexes generally follow a similar progressive clinical course.

摘要

性连锁型肌张力障碍帕金森病(XDP,DYT3,“Lubag”)是一种成年起病、进行性、使人衰弱的运动障碍病,于 1975 年首次在菲律宾帕奈岛的男性中描述。XDP 主要表现为扭转痉挛,后来与帕金森病合并,或有时取代帕金森病。在帕奈岛,患病率最高的是卡皮兹省,每 4000 名男性中就有 1 人患有这种疾病。这种疾病有很高的外显率和普遍性。虽然女性通常是携带者,但 XDP 并不限于男性。截至 2010 年 1 月,菲律宾 XDP 登记处的最新数据(截至 2010 年 1 月)显示有 505 例病例,其中 500 例为男性,5 例为女性。虽然有些报告称女性可能携带较轻的疾病形式,但根据我们的经验,男女两性通常遵循类似的进行性临床病程。

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