Novel challenges in spinal muscular atrophy: How to screen and whom to treat?
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. Meth...
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| Main Authors: | , , , , |
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| Format: | Article (Journal) |
| Language: | English |
| Published: |
2019
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| In: |
Annals of Clinical and Translational Neurology
Year: 2018, Volume: 6, Issue: 1, Pages: 197-205 |
| ISSN: | 2328-9503 |
| DOI: | 10.1002/acn3.689 |
| Online Access: | Verlag, Volltext: https://doi.org/10.1002/acn3.689 Verlag, Volltext: https://onlinelibrary.wiley.com/doi/abs/10.1002/acn3.689 
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| Author Notes: | Afshin Saffari, Stefan Kölker, Georg F. Hoffmann, Markus Weiler & Andreas Ziegler |
| Summary: | 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. |
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| Item Description: | First published: 13 November 2018 Gesehen am 14.05.2019 |
| Physical Description: | Online Resource |
| ISSN: | 2328-9503 |
| DOI: | 10.1002/acn3.689 |