Nusinersen for Spinal Muscular Atrophy Type I with Chronic Respiratory Failure: A Retrospective Study in South Korea.

ABSTRACT:

Purpose

To analyze the efficacy and safety of nusinersen in patients with spinal muscular atrophy (SMA) type I with chronic respiratory failure.

Materials and methods

We retrospectively reviewed seven patients diagnosed with SMA type I and chronic respiratory failure who were on permanent ventilation and treated with nusinersen at Gangnam Severance Hospital between January 2018 and July 2023. Patient demographics and clinical characteristics were recorded, and treatment progress was evaluated according to Hammersmith Infant Neurological Examination (HINE-2) and Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) scores.

Results

Patients initially developed hypotonia at a mean age of 3.7 months. Mean age at start of nusinersen was 7

SUBMITTER: Shin HJ 

PROVIDER: S-EPMC10681826 | biostudies-literature | 2023 Dec

REPOSITORIES: biostudies-literature