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杜氏肌营养不良症:一项基于人群的30年发病率研究。

Duchenne muscular dystrophy: a 30-year population-based incidence study.

作者信息

Dooley Joseph, Gordon Kevin E, Dodds Linda, MacSween Judith

机构信息

IWK Health Centre, Dalhousie University, Nova Scotia, Canada.

出版信息

Clin Pediatr (Phila). 2010 Feb;49(2):177-9. doi: 10.1177/0009922809347777.

Abstract

Duchenne muscular dystrophy (DMD) is among the most common lethal genetic diseases. It has been proposed that genetic counseling and prenatal diagnosis have begun to lower the incidence. We reviewed the records of all patients with confirmed DMD who were born between 1969 and 2008. Statistics Canada data on annual male births in Nova Scotia were obtained for each year.The overall incidence of 1 per 4700 male births remained stable during the 30-year period of the study. Similarly, the age at diagnosis did not change during that time.

摘要

杜氏肌营养不良症(DMD)是最常见的致命性遗传病之一。有人提出,遗传咨询和产前诊断已开始降低其发病率。我们回顾了1969年至2008年间所有确诊为DMD的患者记录。获取了加拿大统计局每年新斯科舍省男性出生的数据。在该研究的30年期间,每4700例男性出生中1例的总体发病率保持稳定。同样,在此期间诊断年龄也没有变化。

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