Raising obstetricians’ awareness of spinal muscular atrophy: towards early detection and reproductive planning

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.

Keywords::

• Carrier screening
• genetics
• prenatal diagnosis
• spinal muscular atrophy
• ultrasound

Declaration of Interest: This work was partially supported by GENAME Project, FIS 08-0729 and FIS 11–2606, Spain. We are indebted to Carolyn Newey for her contribution in the final edition and revision of this manuscript, María Amenedo for technical help and to Sara Bernal, Laura Alías, Rebeca Martínez-Hernández and Eva Also for their helpful comments and invaluable collaboration in SMA research.