Spinal Muscular Atrophy.

OBJECTIVE

This article reviews the history, epidemiology, genetics, clinical presentation, multidisciplinary management, and established and emerging therapies for patients with spinal muscular atrophy.

LATEST DEVELOPMENTS: Advances in effective disease-modifying therapies and the successful expansion of newborn screening have dramatically altered the natural history of and management approach to spinal muscular atrophy. Reports of prenatal therapy have been published, and earlier therapeutic windows and biomarker research are being explored. Cognitive delays are increasingly recognized in a subset of patients with spinal muscular atrophy.

ESSENTIAL POINTS: The recent availability of treatment options and earlier diagnosis through newborn screening have altered the natural history of spinal muscular atrophy. However, there remains no cure. Despite earlier treatment, the time of vulnerability starts early, particularly for those with two or fewer copies of the SMN2 "back-up" gene, and some children still demonstrate profound motor delays.