Spinal muscular atrophy (SMA) is a disease characterised by motor neuron loss. Disease-modifying therapies have transformed the approach to this progressive neurodegenerative disease into a new treatment paradigm of proactive care. Narrow therapeutic windows for intervention make timely diagnosis imperative to prevent irreversible loss of the motor neuron pool. Newborn screening for SMA offers a framework for achieving early diagnosis, improving equitable care and optimising health outcomes and cost-effectiveness.
Spinal muscular atrophy (SMA) is one of the most common severe inherited disorders of infancy and early childhood, with an incidence of about one in 10,000 births and a carrier frequency of one in 45.1,2 SMA is characterised by muscle weakness from denervation of spinal and bulbar motor neurons.3 In its most common and severe form, SMA type 1, the natural history is characterised by respiratory failure and infant death.