Background: The clinical approach to spinal muscular atrophy (SMA) has changed, and the condition is now a treatable neurodegenerative disease, with treated infants and children experiencing gains in motor function and significant increases in survival. Consequently, it is important for primary care physicians to be aware of their role in both detection and community support of people with SMA and their families.
Objective: The aim of this article is to discuss the pertinent features of SMA relevant to the primary physician including presenting features, symptoms and signs, prognosis, treatment options and genetic carrier screening for the condition.
Discussion: SMA is a neuromuscular disorder characterised by progressive proximal muscle weakness. If SMA is suspected, patients should be referred immediately, particularly hypotonic infants and children not obtaining, or falling behind, the motor milestones of their peers. Early recognition and prompt intervention are associated with greater clinical efficacy of genetic disease-modifying therapies. National guidelines recommend carrier screening is offered to all who are considering pregnancy or are in early pregnancy.