Treatment of Spinal muscular atrophy in adults –⁠ experience with innovative therapies in clinical practice

Czech version

Authors: D. Baumgartner
Authors‘ workplace: Neurologická klinika 2. LF UK a FNMH – Motol, Praha
Published in: Cesk Slov Neurol N 2026; 89(S1): 11-13
doi: https://doi.org/10.48095/cccsnn2026S11

Overview

The care of adult patients with spinal muscular atrophy (SMA) has changed substantially over the last decade. The introduction of disease-modifying therapies has shifted the field from exclusively supportive management towards active treatment combined with structured multidisciplinary follow-up. This narrative review aims to summarize disease-modifying treatment options for adults with 5q SMA, experience from Czech clinical practice, and the relevance of real-world evidence. In adult patients, who often have long-standing disease and fixed secondary complications, treatment goals must be realistic. Stabilizing motor and respiratory functions, preserving upper limb function, and maintaining independence represent clinically significant outcomes. In the Czech Republic, care for adult patients with SMA has been successfully systematized through the establishment of criteria for initiating and continuing treatment, reimbursement criteria, and the concentration of care in specialized neuromuscular centers. Compared with other Central European countries, the Czech system is relatively structured. For general neurologists, the key takeaway is that every adult patient with genetically confirmed type 5q SMA should be considered for referral to a neuromuscular center, even in advanced stages of the disease.

Keywords:

spinal muscular atrophy – neuromuscular centres – functional assesment – adult patients – real-world data – nusinersen – risdiplam – disease-modifying therapy

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