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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.

Original publication

DOI

10.1055/s-0044-1791201

Type

Journal article

Journal

Arquivos de neuro-psiquiatria

Publication Date

10/2024

Volume

82

Pages

1 - 9

Addresses

Hospital de Clínicas de Porto Alegre, Unidade de Neurologia Pediátrica, Departamento de Pediatria, Porto Alegre RS, Brazil.

Keywords

Humans, Muscular Atrophy, Spinal, Neonatal Screening, Infant, Newborn