Open AccessNusinersen in type 0 spinal muscular atrophy: should we treat?
Author(s) -
Tiberi Eloisa,
Costa Simonetta,
Pane Marika,
Priolo Francesca,
Sanctis Roberto,
Romeo Domenico,
Tiziano Francesco D.,
Conti Giorgio,
Vento Giovanni,
Mercuri Eugenio
Publication year - 2020
Publication title -
annals of clinical and translational neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.824
H-Index - 42
ISSN - 2328-9503
DOI - 10.1002/acn3.51126
Subject(s) - medicine , spinal muscular atrophy , atrophy , physical medicine and rehabilitation , bioinformatics , pathology , disease , biology
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.