Biomarkers in the management of patients with spinal muscular atrophy
Authors:
P. Halasová; K. Viestová; M. Kolníková
Authors‘ workplace:
Klinika detskej neurológie LFUK a NÚDCH, Bratislava, Slovensko
Published in:
Cesk Slov Neurol N 2026; 89(4): 234-241
Category:
Review Article
doi:
https://doi.org/10.48095/cccsnn2026234
Overview
Spinal muscular atrophy (SMA) is an inherited neuromuscular disorder that occurs in both childhood and adulthood. The approval and availability of new therapies for SMA patients have significantly influenced not only the natural course of the disease but also the overall perspective on progressive congenital neuromuscular disorders. Over the past decade, earlier diagnosis has been enabled through the implementation of SMA in newborn screening programs, the establishment of multidisciplinary teams, and the expanding understanding of the disease’s systemic manifestations. Despite this progress, many questions remain unanswered regarding how to monitor the therapeutic effects of innovative treatment options. Efforts to create an effective system for tracking the impact of new therapies have also highlighted the need to identify ideal biomarkers that could pave the way for personalized medicine. Various groups of biomarkers – including molecular, genetic, electrophysiological, and neuroimaging methods – have thus opened a new and intriguing field of research. In the future, understanding SMA biomarkers could not only facilitate the monitoring of treatment efficacy but also evaluate disease severity, assess disease progression, and stratify patients for various therapies. This review article briefly presents the various types of biomarkers and their potential use in clinical practice.
Keywords:
spinal muscular atrophy – biomarkers – motor neuron disorders
Sources
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Paediatric neurology Neurosurgery NeurologyArticle was published in
Czech and Slovak Neurology and Neurosurgery
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