Hospital de Clínicas de Porto Alegre, Unidade de Neurologia Pediátrica, Departamento de Pediatria, Porto Alegre RS, Brazil.
Universidade Federal do Rio de Janeiro, Instituto de Puericultura e Pediatria Martagão Gesteira, Departamento de Pediatria, Rio de Janeiro RJ, Brazil.
Arq Neuropsiquiatr. 2024 Oct;82(10):1-9. doi: 10.1055/s-0044-1791201. Epub 2024 Oct 13.
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.
脊髓性肌萎缩症（SMA）是一种遗传性神经肌肉进行性疾病，目前可治疗。疾病修正疗法越早开始，预后越好。已有许多国家开展 SMA 的新生儿筛查，预计在不久的将来开始进行。制定一个组织良好的计划对于患有该病的儿童及其医疗保健费用至关重要。本文旨在指出 SMA 新生儿筛查刻不容缓，并不会增加其治疗费用。
