Spinal Muscular Atrophy

Jessica Rose Nance, MD Peripheral Nerve and Motor Neuron Disorders p. 1348-1368 October 2020, Vol.26, No.5 doi: 10.1212/CON.0000000000000918
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PURPOSE OF REVIEW This article provides an overview of the pathophysiology and clinical presentations of spinal muscular atrophy (SMA) and reviews therapeutic developments, including US Food and Drug Administration (FDA)–approved gene-targeted therapies and mainstays of supportive SMA care.

RECENT FINDINGS Over the past decades, an understanding of the role of SMN protein in the development and maintenance of the motor unit and the intricate genetics underlying SMA has led to striking developments in therapeutics with three FDA-approved treatments for SMA, one targeting SMN1 gene replacement (onasemnogene abeparvovec-xioi) and two others enhancing SMN protein production from the SMN2 gene (nusinersen and risdiplam). These therapies are most effective in infants treated at younger ages, and improvement is most striking in babies treated as neonates. Despite improvements in motor function, patients (especially those treated at older ages) continue to experience significant weakness and require continued close monitoring of respiratory and orthopedic symptoms.

SUMMARY Striking therapeutic advancements have changed the clinical course of SMA dramatically, although supportive care continues to play an important role in patient care.

Address correspondence to Dr Jessica Rose Nance, The Johns Hopkins Hospital, David M. Rubenstein Child Health Building, 200 N Wolfe St, Suite 2158; Baltimore, MD 21287, jnance6@jhmi.edu.

RELATIONSHIP DISCLOSURE: Dr Nance receives research/grant support from AveXis, Inc; Biogen; Catabasis Pharmaceuticals, Inc; Catalyst Pharmaceuticals, Inc; Cytokinetics, Inc; Santhera Pharmaceuticals; and Scholar Rock.

UNLABELED USE OF PRODUCTS/INVESTIGATIONAL USE DISCLOSURE: Dr Nance reports no disclosure.

© 2020 American Academy of Neurology.