Spinal muscle atrophy in pediatric patients

Czech version

Authors: Z. Krška Kušníriková ^1,2; J. Staněk ¹
Authors‘ workplace: Oddělení dětské neurologie, FN Ostrava ¹; Katedra klinických neurověd, LF OU, Ostrava ²
Published in: Cesk Slov Neurol N 2026; 89(S1): 7-10
doi: https://doi.org/10.48095/cccsnn2026S7

Overview

Spinal muscular atrophy (SMA) is a genetic neurodegenerative disorder caused by deficiency of the SMN protein, leading to progressive motor neuron loss, muscle weakness, and muscle atrophy. It is one of the most common autosomal recessive neuromuscular disorders of childhood. The introduction of disease-modifying therapies over the past decade has dramatically changed the prognosis of patients with SMA, resulting in improved survival, better motor outcomes, and stabilization of disease progression. Newborn screening, early diagnosis, and initiation of treatment during the presymptomatic stage are of crucial importance. In addition to disease-modifying therapy, patient care includes regular assessment of motor function and comprehensive multidisciplinary management.

Keywords:

spinal muscular atrophy – childhood – multidisciplinary care – nusinersen – risdiplam – onasemnogene abeparvovec

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