Open AccessSuccessful weaning from mechanical ventilation in a patient with SMA type 1 treated with nusinersen
Author(s) -
Lee Jiwon,
Park Se Eun,
Lee Dajeong,
Song Joo Young,
Lee Jeehun
Publication year - 2021
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/acn3.51321
Subject(s) - medicine , sma* , weaning , mechanical ventilation , assisted ventilation , ventilation (architecture) , surgery , pediatrics , anesthesia , mechanical engineering , mathematics , combinatorics , engineering
SMA type 1 is the most severe type, characterized by early onset at <6 months of age, and rapid progression resulting in permanent assisted ventilation before 2 years of life. Supportive care was the only treatment until the approval of nusinersen, an antisense oligonucleotide drug that increases functional SMN protein levels. We present a case of successful weaning from permanent ventilation via tracheostomy with nusinersen in an infant who had been diagnosed with SMA type 1 at the age of one month and had become ventilator‐dependent from the age of 3 months.