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Current Genetic Medicine Reports

, Volume 7, Issue 3, pp 162–167 | Cite as

Spinal Muscular Atrophy (SMA) in the Therapeutic Era

  • Melissa GibbonsEmail author
  • Anne Stratton
  • Julie Parsons
Counseling and Testing (C Reiser and C Walton, Section Editors)
  • 30 Downloads
Part of the following topical collections:
  1. Topical Collection on Counseling and Testing

Abstract

Purpose of Review

Spinal muscular atrophy (SMA) is an autosomal recessive disorder caused by a mutation in the SMN1 gene. It is relatively common worldwide, affecting approximately 1 in 11,000 live births, and about 1 in every 54 individuals is a carrier. The FDA-approved nusinersen (Spinraza) in December 2016 and onasmenogene abeparvovec (Zolgensma) in May 2019 for treatment of SMA after clinical trials showed slowed progression, improved motor function, and improved survival in treated infants and children. This review is aimed at educating medical professionals to facilitate a better understanding of SMA genetics, care recommendations, current and future therapies, and the avenues for early diagnosis.

Recent Findings

With the advent of disease-modifying treatment for SMA, the prognosis and outcomes for patients are changing rapidly. Treatment response is time sensitive, and it is important to diagnose as early as possible and counsel families so prompt decisions regarding treatment can be made. An updated consensus statement on standards of care was published in 2018.

Summary

Understanding the historical phenotypes, genetics and treatment options are critical to provide comprehensive counseling to families, allowing them to make informed decisions. Improved education of providers and advances in screening recommendations and create the opportunity for earlier diagnosis and treatment, further improving the outlook for this disease.

Keywords

Spinal muscular atrophy SMA Gene therapy Genetic counseling 

Notes

Compliance with Ethical Standards

Conflict of Interest

Anne Stratton reports membership on the Medical Advisory Board for Cure SMA (a nonpaid volunteer position) since 2015.

Julie Parsons reports serving as the principle investigator on clinical trials for Biogen, AveXis, Cytokinetics, Scholar Rock, and Genentech Roche, outside of the submitted work.

Melissa Gibbons reports membership on the Advisory Board for Sarepta and honoraria for speaking engagements at AveXis and France Foundation.

Human and Animal Rights and Informed Consent

This article does not contain any studies with human or animal subjects performed by any of the authors.

References

Papers of particular interest, published recently, have been highlighted as: • Of importance

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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2019

Authors and Affiliations

  1. 1.University of Colorado Anschutz Medical Campus/Children’s Hospital ColoradoAuroraUSA

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