Overturning the Paradigm of Spinal Muscular Atrophy as just a Motor Neuron Disease

Spinal muscular atrophy (SMA) is typically characterized as a motor neuron disease. Untreated patients with the most severe form, SMA Type 1, die early with infantile-onset progressive skeletal, bulbar, and respiratory muscle weakness. Such patients are now living longer due to new disease-modifying treatments such as gene replacement therapy (onasemnogene abeparvovec) approved by FDA very recently and nusinersen, a central nervous system (CNS)-directed treatment, which became FDA-approved only 3 years ago.

Source: Pediatric Neurology - January 20, 2020 Category: Neurology Authors: Crystal Jing Jing Yeo, Basil T. Darras Tags: Review Article Source Type: research