Raising obstetricians' awareness of spinal muscular atrophy: towards early detection and reproductive planning.
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.
Department of Obstetrics and Gynecology, Hospital Sant Pau, and Ciberer U-705(3), Barcelona, Spain.
Juan
J
Parra
Eduardo F
EF
Tizzano
D001364:Awareness / Q000502:physiology; D042241:Early Diagnosis; D005193:Family Planning Services / Q000379:methods* / Q000706:statistics & numerical data; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D007231:Infant, Newborn; D008954:Models, Biological; D009774:Obstetrics; D010820:Physicians; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D014897:Spinal Muscular Atrophies of Childhood / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D000078329:Workforce