Consensus from the Brazilian Academy of Neurology for the diagnosis, genetic counseling, and use of disease-modifying therapies in 5q spinal muscular atrophy

Abstract: Spinal 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.

Object Details

• Alternative title: Consenso da Academia Brasileira de Neurologia para diagnóstico, aconselhamento genético e uso de terapias modificadoras na atrofia muscular espinhal 5q
• Location: Deutsche Nationalbibliothek Frankfurt am Main
• Extent: Online-Ressource
• Language: Englisch

References and Relationships

• Bibliographic citation: Consensus from the Brazilian Academy of Neurology for the diagnosis, genetic counseling, and use of disease-modifying therapies in 5q spinal muscular atrophy ; volume:82 ; number:01 ; year:2024 ; pages:001-018 ; Arquivos de neuro-psiquiatria ; 82, Heft 01 (2024), 001-018

Contributors, Places and Time

• Contributor: Zanoteli, Edmar ; Araujo, Alexandra Prufer de Queiróz Campos ; Becker, Michele Michelin ; Fortes, Clarisse Pereira Dias Drumond ; França, Marcondes Cavalcante ; Machado-Costa, Marcela Camara ; Marques, Wilson ; Matsui Jr, Ciro ; Mendonça, Rodrigo Holanda ; Nardes, Flávia ; Oliveira, Acary Souza Bulle ; Pessoa, Andre Luis Santos ; Saute, Jonas Alex Morales ; Sgobbi, Paulo ; Van der Linden, Hélio ; Gurgel-Giannetti, Juliana

Further information

• DOI: 10.1055/s-0044-1779503
• URN: urn:nbn:de:101:1-2404181101597.020616900890
• Rights: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
• Last update: 14.08.2025, 10:55 AM CEST