Multidisciplinary care for pediatric patients with spinal muscular atrophy during causal treatment

Czech version

Authors: D. Pazdírek; B. Lauerová; M. Rohlenová; A. Dolanská; M. Gloser; J. Haberlová
Authors‘ workplace: Klinika dětské neurologie 2. LF UK a FNMH – Motol, Praha
Published in: Cesk Slov Neurol N 2026; 89(S1): 19-22
doi: https://doi.org/10.48095/cccsnn2026S19

Overview

The introduction of early diagnosis and causal treatment has fundamentally altered the natural course of spinal muscular atrophy and led to the emergence of a phenotypically heterogeneous group of pediatric patients, ranging from asymptomatic patients to those with severe motor, respiratory, or bulbar impairment. Although causal therapies significantly improve the prognosis, spinal muscular atrophy cannot be considered a curable disease. At the same time, the improved prognosis brings new challenges associated with both persistent and newly emerging complications. The aim of this review article is to summarize the current principles of a multidisciplinary approach to pediatric patients with spinal muscular atrophy in the era of causal therapy. Particular attention is given to rehabilitation and the assessment of motor functions, respiratory care, orthopedic and spinal surgical complications, bone health, swallowing and nutritional disorders, genetic counseling, imaging methods, and psychosocial support. As the phenotype of patients changes, so do care priorities –⁠ shifting from the prevention and treatment of early life-threatening complications to the long-term preservation of motor skills, the prevention of secondary complications, the promotion of independence, and the improvement of overall quality of life. The centralization of patients in specialized neuromuscular centers and coordinated collaboration among various medical specialties are essential prerequisites for ensuring effective long-term care for patients with spinal muscular atrophy.

Keywords:

spinal muscular atrophy – Quality of life – rehabilitation – multidisciplinary care – symptomatic treatment – pediatric neurology – causal treatment – centralized care

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