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

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dc.contributorSistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSP
dc.contributor.authorZANOTELI, Edmar
dc.contributor.authorARAUJO, Alexandra Prufer de Queiroz Campos
dc.contributor.authorBECKER, Michele Michelin
dc.contributor.authorFORTES, Clarisse Pereira Dias Drumond
dc.contributor.authorFRANCA, Marcondes Cavalcante
dc.contributor.authorMACHADO-COSTA, Marcela Camara
dc.contributor.authorMARQUES JR., Wilson
dc.contributor.authorMATSUI JR., Ciro
dc.contributor.authorMENDONCA, Rodrigo Holanda
dc.contributor.authorNARDES, Flavia
dc.contributor.authorOLIVEIRA, Acary Souza Bulle
dc.contributor.authorPESSOA, Andre Luis Santos
dc.contributor.authorSAUTE, Jonas Alex Morales
dc.contributor.authorSGOBBI, Paulo
dc.contributor.authorLINDEN JR., Helio van der
dc.contributor.authorGURGEL-GIANNETTI, Juliana
dc.date.accessioned2024-04-05T19:32:40Z
dc.date.available2024-04-05T19:32:40Z
dc.date.issued2024
dc.description.abstractSpinal 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.eng
dc.description.indexMEDLINE
dc.description.indexPubMed
dc.description.indexScopus
dc.description.indexDimensions
dc.description.indexWoS
dc.description.sponsorshipABN (Academia Brasileira deNeurologia)
dc.identifier.citationARQUIVOS DE NEURO-PSIQUIATRIA, v.82, n.1, p.8-18, 2024
dc.identifier.doi10.1055/s-0044-1779503
dc.identifier.eissn1678-4227
dc.identifier.issn0004-282X
dc.identifier.urihttps://observatorio.fm.usp.br/handle/OPI/58917
dc.language.isoeng
dc.publisherASSOC ARQUIVOS NEURO- PSIQUIATRIAeng
dc.relation.ispartofArquivos de Neuro-Psiquiatria
dc.rightsopenAccesseng
dc.rights.holderCopyright ASSOC ARQUIVOS NEURO- PSIQUIATRIAeng
dc.subjectSpinal Muscular Atrophyeng
dc.subjectSurvival of Motor Neuron 1 Proteineng
dc.subjectOligonucleotideseng
dc.subjectRisdiplameng
dc.subjectGenetic Therapyeng
dc.subjectOnasemnogene abeparvoveceng
dc.subject.otheronasemnogene abeparvoveceng
dc.subject.otherreplacement therapyeng
dc.subject.otheradult patientseng
dc.subject.otheropen-labeleng
dc.subject.othernusinersen treatmenteng
dc.subject.othermuscle strengtheng
dc.subject.othersham controleng
dc.subject.othersma typeeng
dc.subject.othertype-1eng
dc.subject.otherrisdiplameng
dc.subject.wosNeuroscienceseng
dc.subject.wosPsychiatryeng
dc.titleConsensus from the Brazilian Academy of Neurology for the diagnosis, genetic counseling, and use of disease-modifying therapies in 5q spinal muscular atrophyeng
dc.typearticleeng
dc.type.categoryoriginal articleeng
dc.type.versionpublishedVersioneng
dspace.entity.typePublication
hcfmusp.author.externalARAUJO, Alexandra Prufer de Queiroz Campos:Univ Fed Rio de Janeiro, Fac Med, Dept Pediat, Rio de Janeiro, RJ, Brazil
hcfmusp.author.externalBECKER, Michele Michelin:Hosp Clin Porto Alegre, Unidade Neurol Infantil, Dept Pediat, Porto Alegre, RS, Brazil
hcfmusp.author.externalFORTES, Clarisse Pereira Dias Drumond:Univ Fed Rio de Janeiro, Inst Puericultura & Pediat Martagao Gesteira, Rio De Janeiro, RJ, Brazil
hcfmusp.author.externalFRANCA, Marcondes Cavalcante:Univ Estadual Campinas, Fac Ciencias Med, Dept Neurol, Campinas, SP, Brazil
hcfmusp.author.externalMACHADO-COSTA, Marcela Camara:Escola Bahiana Med & Saude Publ, Salvador, BA, Brazil
hcfmusp.author.externalMARQUES JR., Wilson:Univ Sao Paulo, Fac Med Ribeirao Preto, Dept Neurociencias & Ciencias Comportamento, Ribeirao Preto, SP, Brazil
hcfmusp.author.externalNARDES, Flavia:Univ Fed Rio de Janeiro, Inst Puericultura & Pediat Martagao Gesteira, Rio De Janeiro, RJ, Brazil
hcfmusp.author.externalOLIVEIRA, Acary Souza Bulle:Univ Fed Sao Paulo, Dept Neurol & Neurocirurgia, Sao Paulo, SP, Brazil
hcfmusp.author.externalPESSOA, Andre Luis Santos:Univ Estadual Ceara, Hosp Infantil Albert Sabin, Fortaleza, Ceara, Brazil
hcfmusp.author.externalSAUTE, Jonas Alex Morales:Univ Fed Rio Grande do Sul, Hosp Clin Porto Alegre, Serv Genet Med & Neurol, Fac Med, Porto Alegre, RS, Brazil
hcfmusp.author.externalSGOBBI, Paulo:Univ Fed Sao Paulo, Dept Neurol & Neurocirurgia, Sao Paulo, SP, Brazil
hcfmusp.author.externalLINDEN JR., Helio van der:Ctr Reabilitacao Dr Henrique Santillo, Serv Neurol Infantil & Neurofisiol, Goiania, Go, Brazil
hcfmusp.author.externalGURGEL-GIANNETTI, Juliana:Univ Fed Minas Gerais, Fac Med, Dept Pediat, Belo Horizonte, MG, Brazil
hcfmusp.citation.scopus0
hcfmusp.contributor.author-fmusphcEDMAR ZANOTELI
hcfmusp.contributor.author-fmusphcCIRO MATSUI JUNIOR
hcfmusp.contributor.author-fmusphcRODRIGO DE HOLANDA MENDONCA
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hcfmusp.description.endpage18
hcfmusp.description.issue1
hcfmusp.description.volume82
hcfmusp.origemWOS
hcfmusp.origem.dimensionspub.1168588568
hcfmusp.origem.pubmed38316428
hcfmusp.origem.scopus2-s2.0-85184423565
hcfmusp.origem.wosWOS:001157971100004
hcfmusp.publisher.citySAO PAULO SPeng
hcfmusp.publisher.countryBRAZILeng
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