Spinal presentations in children with spinal muscular atrophy type 1 following gene therapy treatment with onasemnogene abeparvovec - The SMA REACH UK network experience.

Spinal muscular atrophy (SMA) is a neuromuscular disorder of mainly early onset and variable severity. Prior to the introduction of disease modifying therapies (DMTs), children with SMA type 1 typically died before 2 years of age and management was primarily palliative. Onasemnogene abeparvovec (OA), nusinersen, and risdiplam are novel DMTs which ameliorate the effects of the underlying genetic defect at least partially making SMA a treatable condition.

Effect of Lung Volume Recruitment on Pulmonary Function in Progressive Childhood-Onset Neuromuscular Disease: A Systematic Review.

Objectives: The focus of this systematic review was to consider whether lung volume recruitment (LVR) has an effect on pulmonary function test parameters in individuals with progressive childhood-onset neuromuscular diseases. The review was registered on PROSPERO (No. CRD42019119541).