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Novel challenges in spinal muscular atrophy - How to screen and whom to treat?

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.

SUBMITTER: Saffari A

PROVIDER: S-EPMC6331314 | biostudies-literature | 2019 Jan

REPOSITORIES: biostudies-literature

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Novel challenges in spinal muscular atrophy - How to screen and whom to treat?

Saffari Afshin A Kölker Stefan S Hoffmann Georg F GF Weiler Markus M Ziegler Andreas A

Annals of clinical and translational neurology 20181113 1

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 a ...[more]

PMID: 30656198

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