The changing therapeutic landscape of spinal muscular atrophy

Abstract

Background The clinical approach to spinal muscular atrophy (SMA) has changed, and thecondition is now a treatableneurodegenerative disease, with treatedinfants and children experiencing gains inmotor function and significant increasesin survival. Consequently, it is importantfor primary care physicians to be awareof their role in both detection andcommunity support of people withSMA and their families.ObjectiveThe aim of this article is to discuss thepertinent features of SMA relevant to theprimary physician including presentingfeatures, symptoms and signs, prognosis,treatment options and genetic carrierscreening for the condition.DiscussionSMA is a neuromuscular disordercharacterised by progressive proximalmuscle weakness. If SMA is suspected,patients should be referred immediately,particularly hypotonic infants and childrennot obtaining, or falling behind, the motormilestones of their peers. Early recognitionand prompt intervention are associatedwith greater clinical efficacy of geneticdisease–modifying therapies. Nationalguidelines recommend carrier screeningis offered to all who are consideringpregnancy or are in early pregnancy