ArticleRevista de neurologia2026
Consensus for the Diagnosis and Treatment of Patients With Spinal Muscular Atrophy (SMA) in Latin America.
Article in Revista de neurologia, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
background5q spinal muscular atrophy (5q SMA) is an autosomal recessive neuromuscular disorder caused by mutations in the survival motor neuron 1 gene (
methodsA regional expert panel conducted a formal consensus process (2025-2026) through iterative questionnaires and structured discussions. Agreement was defined as ≥70% concordance. Additionally, a regional survey assessed access to diagnostic and therapeutic resources.
resultsForty professionals from 15 countries participated. While 90% reported access to genetic testing (MLPA), only 35% indicated availability within the public healthcare system; private access and pharmaceutical industry support were also reported as pathways to testing. No participating country reported nationwide implementation of newborn screening for SMA; 22.5% of respondents reported pilot programs or future implementation proposals. Access to at least one DMT was reported by 92.5% of respondents; however, delays between diagnosis and treatment initiation were frequent and remain an important challenge across the region. Consensus recommendations were established for diagnosis, functionally stratified multidisciplinary care, and response assessment based on motor and non-motor domains using validated tools and individualized follow-up.
conclusionsThis consensus provides a practical and adaptable framework to optimize SMA care in LATAM, supporting longitudinal, patient-centered clinical decision-making.
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