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Unexpected but successful non-instrumental vaginal delivery in a spinal muscular atrophy type II pregnant patient
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Orientador(es)
Resumo(s)
Spinal muscular atrophy (SMA) is an autosomal recessive motor neuron disorder caused by homozygous deletion or mutation in 5q11.2-q13.3, affecting the SMN1 gene. It is characterized by progressive lower motor neuron loss in the brainstem and spinal cord, resulting in muscle weakness and atrophy. SMA is classified into four distinct clinical phenotypes, from the most severe phenotype (type I) to milder clinical forms (type IV), based on onset age and the highest level of motor milestones. Therefore, many SMA female patients reach fertile age and consider pregnancy. To date, there have been few reports on pregnancy in women with SMA type II, and all of them were instrumental or caesareans deliveries.
Descrição
Copyright © 2021, Fondazione Società Italiana di Neurologia
Palavras-chave
Contexto Educativo
Citação
Neurol Sci. 2021 Jun 5.
Editora
Springer Nature