Nusinersen treatment in a type 3 spinal muscular atrophy patient during early pregnancy

• Autor(es): Schön, Miguel ; Domingues, Sara ; Carvalho, Mamede ; Oliveira Santos, Miguel
• Data: 2023
• Identificador Persistente: http://hdl.handle.net/10451/57351
• Origem: Repositório da Universidade de Lisboa
• Tipo de Documento: Artigo científico
• Idioma: Inglês
• Contribuidor(es): Repositório Científico de Acesso Aberto da ULisboa

Descrição

Spinal muscular atrophy (SMA) is an autosomal recessive motor neuron disorder usually caused by biallelic mutations in the SMN1 gene on chromosome 5q13.2, which leads to a progressive degeneration of lower motor neurons nuclei in the spinal cord and brainstem. It is characterized by a progressive atrophy and proximal muscle weakness, with a variable degree of bulbar and/or respiratory muscle involvement, depending on the phenotype severity.