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首页> 外文期刊>International Journal of Neonatal Screening >A Roadmap to Newborn Screening for Duchenne Muscular Dystrophy
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A Roadmap to Newborn Screening for Duchenne Muscular Dystrophy

机译：新生儿筛查杜氏肌营养不良症的路线图

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Duchenne muscular dystrophy (DMD) is the most common childhood form of muscular dystrophy, with an estimated frequency of 1:5000 live births. The impact of the disease presents as early as infancy with significant developmental delays, and ultimately loss of ambulation and respiratory insufficiency. Glucocorticoids are the only pharmacological agents known to alter the natural progression of the disease by prolonging ambulation, reducing scoliosis, and assisted ventilation. Introduction of therapy at an early age may halt the muscle pathology in DMD. In anticipation of the potentially disease-modifying products that are reaching regulatory review, Parent Project Muscular Dystrophy (PPMD) formally initiated a national Duchenne Newborn Screening (DNBS) effort in December 2014 to build public health infrastructure for newborn screening (NBS) for Duchenne in the United States. The effort includes a formalized national Duchenne Newborn Screening Steering Committee, six related Working Groups, a Duchenne Screening Test Development Project led by PerkinElmer, a program with the American College of Medical Genetic and Genomics?￠???? Newborn Screening Translation Research Network (NBSTRN), and collaborations with other Duchenne partners and federal agencies involved in NBS. We herein review the organization and effort of the U.S. DNBS program to develop the evidence supporting the implementation of NBS for DMD.
机译：Duchenne肌营养不良症（DMD）是最常见的童年型肌营养不良症，估计有1：5000例活产。该病的影响最早出现在婴儿期，发育迟缓，最终导致活动功能下降和呼吸功能不全。糖皮质激素是已知的唯一药物，可通过延长下床活动，减少脊柱侧弯和辅助通气来改变疾病的自然进程。早期引入治疗可能会终止DMD的肌肉病理。由于预期将有可能改善疾病的产品即将接受监管审查，因此，父项目性肌肉营养不良症（PPMD）于2014年12月正式启动了全国杜兴新生儿筛查（DNBS）计划，以为杜兴州的新生儿筛查建立公共卫生基础设施（NBS）。美国。这项工作包括正式的全国杜兴新生儿筛查指导委员会，六个相关的工作组，由珀金埃尔默（PerkinElmer）领导的杜兴筛查试验开发项目，美国医学遗传与基因组学学院的计划。新生儿筛查翻译研究网络（NBSTRN），以及与Duchenne其他合作伙伴和参与NBS的联邦机构的合作。我们在这里回顾了美国DNBS计划的组织和工作，以开发支持DBS实施NBS的证据。

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