Novel challenges in spinal muscular atrophy

• Verfasst von: Saffari, Afshin [VerfasserIn]
• Verfasst von: Kölker, Stefan [VerfasserIn]
• Verfasst von: Hoffmann, Georg Friedrich [VerfasserIn]
• Verfasst von: Weiler, Markus [VerfasserIn]
• Verfasst von: Ziegler, Andreas [VerfasserIn]
• Titel: Novel challenges in spinal muscular atrophy
• Titelzusatz: How to screen and whom to treat?
• Verf.angabe: Afshin Saffari, Stefan Kölker, Georg F. Hoffmann, Markus Weiler & Andreas Ziegler
• Jahr: 2019
• Jahr des Originals: 2018
• Umfang: 9 S.
• Fussnoten: First published: 13 November 2018 ; Gesehen am 14.05.2019
• Titel Quelle: Enthalten in: Annals of Clinical and Translational Neurology
• Ort Quelle: Chichester [u.a.] : Wiley, 2013
• Jahr Quelle: 2019
• Band/Heft Quelle: 6(2019), 1, Seite 197-205
• ISSN Quelle: 2328-9503
• DOI: doi:10.1002/acn3.689
• Datenträger: Online-Ressource
• Sprache: eng
• K10plus-PPN: 1665350067

Abstract

In recent years, disease-modifying and life-prolonging therapies for spinal muscular atrophy (SMA) have been developed. However, patients are currently diagnosed with significant delay and therapies are often administered in advanced stages of motor neuron degeneration, showing limited effects. Methods to identify children in presymptomatic stages are currently evaluated in newborn screening programs. Yet, not all children develop symptoms shortly after birth raising the question whom to treat and when to initiate therapy. Finally, monitoring disease progression becomes essential to individualize management. Here, we review the literature on screening approaches, strategies to predict disease severity, and biomarkers to monitor therapy.