Why should a 5q spinal muscular atrophy neonatal screening program be started?
| Autor: | Michele Michelin Becker, Flávia Nardes, Tamara Dangouloff, Laurent Servais, Alexandra Prufer de Queiroz Campos Araujo, Juliana Gurgel-Giannetti |
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| Jazyk: | angličtina |
| Rok vydání: | 2024 |
| Předmět: | |
| Zdroj: | Arquivos de Neuro-Psiquiatria, Vol 82, Iss 10, Pp 001-009 (2024) |
| Druh dokumentu: | article |
| ISSN: | 0004-282X 1678-4227 0044-1791 00441791 |
| DOI: | 10.1055/s-0044-1791201 |
| Popis: | 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. |
| Databáze: | Directory of Open Access Journals |
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