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

Abstract: 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.

Object Details

• Alternative title: Por que se deve iniciar um programa de triagem neonatal para atrofia muscular espinhal 5q?
• Location: Deutsche Nationalbibliothek Frankfurt am Main
• Extent: Online-Ressource
• Language: Englisch

References and Relationships

• Bibliographic citation: Why should a 5q spinal muscular atrophy neonatal screening program be started? ; volume:82 ; number:10 ; year:2024 ; pages:001-009 ; Arquivos de neuro-psiquiatria ; 82, Heft 10 (2024), 001-009

Contributors, Places and Time

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

Further information

• DOI: 10.1055/s-0044-1791201
• URN: urn:nbn:de:101:1-2412261138494.268537055970
• Rights: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
• Last update: 15.08.2025, 7:35 AM CEST