为什么要启动 5q 脊髓性肌萎缩症新生儿筛查计划？

IF 1 4区医学 Q4 NEUROSCIENCES

Arquivos de neuro-psiquiatria Pub Date : 2024-10-01 Epub Date: 2024-10-13 DOI:10.1055/s-0044-1791201

Michele Michelin Becker, Flávia Nardes, Tamara Dangouloff, Laurent Servais, Alexandra Prufer de Queiroz Campos Araujo, Juliana Gurgel-Giannetti

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引用次数: 0

摘要

脊髓性肌萎缩症（SMA）是一种遗传性神经肌肉进行性疾病，目前是可以治疗的。越早开始改变病情的治疗，预后就越好。新生儿 SMA 筛查已在许多国家开展，并计划在不久的将来开始。要想为先天性 SMA 患儿带来良好的治疗效果，并降低医疗成本，制定一项组织完善的计划至关重要。我们在此提交一篇综述论文，希望指出 SMA 新生儿筛查刻不容缓，而且不会增加医疗费用。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Why should a 5q spinal muscular atrophy neonatal screening program be started?

Spinal muscular atrophy (SMA) is a genetic neuromuscular progressive disorder that is currently treatable. The sooner the disease-modifying therapies are started, the better the prognosis. Newborn screening for SMA, which is already performed in many countries, has been scheduled to begin in the near future. The development of a well-organized program is paramount to achieve favorable outcomes for the child who is born with the disease and for the costs involved in health care. We herein present a review paper hoping to point out that SMA neonatal screening is urgent and will not increase the cost of its care.

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来源期刊

Arquivos de neuro-psiquiatria 医学-精神病学

CiteScore

2.10

自引率

7.10%

发文量

262

审稿时长

4-8 weeks

期刊介绍： Arquivos de Neuro-Psiquiatria is the official journal of the Brazilian Academy of Neurology. The mission of the journal is to provide neurologists, specialists and researchers in Neurology and related fields with open access to original articles (clinical and translational research), editorials, reviews, historical papers, neuroimages and letters about published manuscripts. It also publishes the consensus and guidelines on Neurology, as well as educational and scientific material from the different scientific departments of the Brazilian Academy of Neurology. The ultimate goals of the journal are to contribute to advance knowledge in the areas of Neurology and Neuroscience, and to provide valuable material for training and continuing education for neurologists and other health professionals working in the area. These goals might contribute to improving care for patients with neurological diseases. We aim to be the best Neuroscience journal in Latin America within the peer review system.