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

Eloisa Tiberi, Simonetta Costa, Marika Pane, Francesca Priolo, Roberto De Sanctis, Domenico Marco Romeo, Francesco Danilo Tiziano, Giorgio Conti, Giovanni Vento, Eugenio Maria Mercuri*

*Autore corrispondente per questo lavoro

Risultato della ricerca: Contributo in rivistaArticolo in rivista

Abstract

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.
Lingua originaleEnglish
pagine (da-a)N/A-N/A
RivistaAnnals of Clinical and Translational Neurology
DOI
Stato di pubblicazionePubblicato - 2020

Keywords

  • type 0 spinal muscular atrophy

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