Nusinersen in type 0 spinal muscular atrophy: should we treat?

A male infant affected by type 0 SMA with one copy of SMN2 received early treatment with Nusinersen at the age of 13 days. He showed mild motor improvement 2 months after treatment started but despite also showing some minimal respiratory improvement, required tracheostomy at the age of 4 months and...

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Detalles Bibliográficos
Autores principales: Tiberi, Eloisa, Costa, Simonetta, Pane, Marika, Priolo, Francesca, de Sanctis, Roberto, Romeo, Domenico, Tiziano, Francesco D., Conti, Giorgio, Vento, Giovanni, Mercuri, Eugenio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Case Study
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7732235/
https://www.ncbi.nlm.nih.gov/pubmed/33147378
http://dx.doi.org/10.1002/acn3.51126
Descripción
Sumario:A male infant affected by type 0 SMA with one copy of SMN2 received early treatment with Nusinersen at the age of 13 days. He showed mild motor improvement 2 months after treatment started but despite also showing some minimal respiratory improvement, required tracheostomy at the age of 4 months and had increasing cardiac and autonomic dysfunction leading to exitus at 5 months. Our findings, expanding the results available on Nusinersen, confirm its relative efficacy in the most severely affected infants and provide clinical evidence to be used at the time requests for treating severe infants are discussed.

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