Raising obstetricians' awareness of spinal muscular atrophy: towards early detection and reproductive planning
Por:
Parra, J, Tizzano, EF
Publicada:
1 dic 2012
Resumen:
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder that is caused by degeneration of a 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.
Filiaciones:
Parra, J:
Hosp Santa Creu & Sant Pau, Dept Obstet & Gynecol, Barcelona, Spain
Tizzano, EF:
Hosp Santa Creu & Sant Pau, Dept Genet, Barcelona, Spain
Ciberer U 705 3, Barcelona, Spain
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