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Raising obstetricians' awareness of spinal muscular atrophy: towards early detection and reproductive planning.
J Matern Fetal Neonatal Med ; 25(12): 2555-8, 2012 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-22712688
ABSTRACT
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder that is caused by degeneration of α motor neurons in the spinal cord anterior horns. This degeneration can lead to progressive atrophy of proximal muscles, weakness, respiratory failure and death in severe cases. SMA is the most common neuromuscular disease of childhood and one of the main causes of infant death, with no cure in sight. This review highlights the impact of the disease in families, summarizes genetics and ultrasound advances, discusses how obstetricians can work towards its early detection and explores the options for reproductive planning.
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Texto completo: Disponível Coleções: Bases de dados internacionais Base de dados: MEDLINE Assunto principal: Diagnóstico Pré-Natal / Conscientização / Atrofias Musculares Espinais da Infância / Serviços de Planejamento Familiar / Obstetrícia Aspecto clínico: Diagnóstico Limite: Feminino / Humanos / Recém-Nascido / Gravidez Idioma: Inglês Revista: J Matern Fetal Neonatal Med Assunto da revista: Obstetrícia / Perinatologia Ano de publicação: 2012 Tipo de documento: Artigo País de afiliação: Espanha