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

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

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, e...

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Bibliographic Details
Main Authors: Edmar Zanoteli, Alexandra Prufer de Queiróz Campos Araujo, Michele Michelin Becker, Clarisse Pereira Dias Drumond Fortes, Marcondes Cavalcante França, Marcela Camara Machado-Costa, Wilson Marques, Ciro Matsui Jr, Rodrigo Holanda Mendonça, Flávia Nardes, Acary Souza Bulle Oliveira, Andre Luis Santos Pessoa, Jonas Alex Morales Saute, Paulo Sgobbi, Hélio Van der Linden, Juliana Gurgel-Giannetti
Format: Article
Language:English
Published: Academia Brasileira de Neurologia (ABNEURO) 2024-01-01
Series:Arquivos de Neuro-Psiquiatria
Subjects:
Spinal Muscular Atrophy
Survival of Motor Neuron 1 Protein
Oligonucleotides
Risdiplam
Genetic Therapy
Onasemnogene abeparvovec
Atrofia Muscular Espinhal
Proteína 1 de Sobrevivência do Neurônio Motor
Oligonucleotídeos
Terapia Genética
Online Access:http://www.thieme-connect.de/DOI/DOI?10.1055/s-0044-1779503

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http://www.thieme-connect.de/DOI/DOI?10.1055/s-0044-1779503

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