Sistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSPZANOTELI, EdmarARAUJO, Alexandra Prufer de Queiroz CamposBECKER, Michele MichelinFORTES, Clarisse Pereira Dias DrumondFRANCA, Marcondes CavalcanteMACHADO-COSTA, Marcela CamaraMARQUES JR., WilsonMATSUI JR., CiroMENDONCA, Rodrigo HolandaNARDES, FlaviaOLIVEIRA, Acary Souza BullePESSOA, Andre Luis SantosSAUTE, Jonas Alex MoralesSGOBBI, PauloLINDEN JR., Helio van derGURGEL-GIANNETTI, Juliana2024-04-052024-04-052024ARQUIVOS DE NEURO-PSIQUIATRIA, v.82, n.1, p.8-18, 20240004-282Xhttps://observatorio.fm.usp.br/handle/OPI/58917Spinal muscular atrophy linked to chromosome 5 (SMA-5q) is an autosomal recessive genetic disease caused by mutations in the SMN1 . SMA-5q is characterized by progressive degeneration of the spinal cord and bulbar motor neurons, causing severe motor and respiratory impairment with reduced survival, especially in its more severe clinical forms. In recent years, highly effective disease-modifying therapies have emerged, either acting by regulating the splicing of exon 7 of the SMN2 gene or adding a copy of the SMN1 gene through gene therapy, providing a drastic change in the natural history of the disease. In this way, developing therapeutic guides and expert consensus becomes essential to direct the use of these therapies in clinical practice. This consensus, prepared by Brazilian experts, aimed to review the main available disease-modifying therapies, critically analyze the results of clinical studies, and provide recommendations for their use in clinical practice for patients with SMA-5q. This consensus also addresses aspects related to diagnosis, genetic counseling, and follow-up of patients under drug treatment. Thus, this consensus provides valuable information regarding the current management of SMA-5q, helping therapeutic decisions in clinical practice and promoting additional gains in outcomes.engopenAccessSpinal Muscular AtrophySurvival of Motor Neuron 1 ProteinOligonucleotidesRisdiplamGenetic TherapyOnasemnogene abeparvoveconasemnogene abeparvovecreplacement therapyadult patientsopen-labelnusinersen treatmentmuscle strengthsham controlsma typetype-1risdiplamarticleCopyright ASSOC ARQUIVOS NEURO- PSIQUIATRIA10.1055/s-0044-1779503NeurosciencesPsychiatry1678-4227