TY - JOUR
T1 - Nusinersen in type 0 spinal muscular atrophy: should we treat?
AU - Tiberi, Eloisa
AU - Costa, Simonetta
AU - Pane, Marika
AU - Priolo, Francesca
AU - De Sanctis, Roberto
AU - Romeo, Domenico Marco
AU - Tiziano, Francesco Danilo
AU - Conti, Giorgio
AU - Vento, Giovanni
AU - Mercuri, Eugenio Maria
PY - 2020
Y1 - 2020
N2 - 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.
AB - 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.
KW - type 0 spinal muscular atrophy
KW - type 0 spinal muscular atrophy
UR - http://hdl.handle.net/10807/164455
U2 - 10.1002/acn3.51126
DO - 10.1002/acn3.51126
M3 - Article
SN - 2328-9503
SP - N/A-N/A
JO - Annals of Clinical and Translational Neurology
JF - Annals of Clinical and Translational Neurology
ER -