Buying time for infants with spinal muscular atrophy

Loss-of-function mutation of the survival motor neuron 1 (SMN1) gene on chromosome 5q causes hereditary proximal spinal muscular atrophy, a neuromuscular disorder characterised by severe infantile or childhood-onset muscle weakness. Despite the disorder being rare, with an incidence of around 1 per 10000 livebirths, spinal muscular atrophy is one of the most common hereditary causes of severe disability. 5 years ago, infantile-onset spinal...