RODRIGO DE HOLANDA MENDONCA

(Fonte: Lattes)
Índice h a partir de 2011
10
Lattes
Projetos de Pesquisa
Unidades Organizacionais
Instituto Central, Hospital das Clínicas, Faculdade de Medicina - Médico
LIM/45 - Laboratório de Fisiopatologia Neurocirúrgica, Hospital das Clínicas, Faculdade de Medicina

Filtros

Limpar filtros

Configurações

search.filters.applied.f.dateIssued: 2024 ×

Resultados de Busca

Agora exibindo 1 - 1 de 1
  • article 0 Citação(ões) na Scopus
    Consensus from the Brazilian Academy of Neurology for the diagnosis, genetic counseling, and use of disease-modifying therapies in 5q spinal muscular atrophy
    (2024) ZANOTELI, Edmar; ARAUJO, Alexandra Prufer de Queiroz Campos; BECKER, Michele Michelin; FORTES, Clarisse Pereira Dias Drumond; FRANCA, Marcondes Cavalcante; MACHADO-COSTA, Marcela Camara; MARQUES JR., Wilson; MATSUI JR., Ciro; MENDONCA, Rodrigo Holanda; NARDES, Flavia; OLIVEIRA, Acary Souza Bulle; PESSOA, Andre Luis Santos; SAUTE, Jonas Alex Morales; SGOBBI, Paulo; LINDEN JR., Helio van der; GURGEL-GIANNETTI, Juliana
    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.