Cribado neonatal en atrofia muscular espinal: un desafío para cambiar la historia natural

Contenido principal del artículo

Javier Antonio Muntadas Rausei

Resumen

Introducción: la atrofia muscular espinal (AME) es la primera causa de origen genético de muerte en la infancia. En los últimos 20 años han sido excepcionales los avances en el conocimiento de su base genética, de su historia natural y se han desarrollado estándares de cuidado y nuevas terapias. Este veloz aumento del conocimiento ha llevado al desarrollo de terapias eficaces para esta devastadora enfermedad, pero el tiempo son


neuronas, y esa frase nos lleva a pensar la importancia del diagnóstico precoz y, por qué no, del diagnóstico presintomático mediante pesquisa neonatal.


Métodos: revisión de la bibliografía disponible, a través de búsqueda en PubMed y Google para trabajos no indexados o publicaciones de organismos de Salud.


Resultados: varios estudios clínicos han mostrado la mayor eficacia del tratamiento en pacientes presintomáticos, por lo que lograrlo en estos pacientes llevaría a cambiar radicalmente la historia de esta enfermedad.


Conclusión: es importante analizar y promover el desarrollo de pilotos para pesquisa neonatal en vistas a lograr experiencia para, a partir de ello, pensar en la posibilidad de incorporarlo a programas nacionales.

Detalles del artículo

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1.
Muntadas Rausei JA. Cribado neonatal en atrofia muscular espinal: un desafío para cambiar la historia natural. Rev. Hosp. Ital. B.Aires [Internet]. 30 de junio de 2021 [citado 29 de marzo de 2024];41(2):p. 71-8. Disponible en: //ojs.hospitalitaliano.org.ar/index.php/revistahi/article/view/89
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