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Raising obstetricians' awareness of spinal muscular atrophy: towards early detection and reproductive planning.
MedLine Citation:
PMID:  22712688     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
Abstract Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder that is caused by degeneration of alpha 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.
Authors:
Juan Parra; Eduardo Tizzano
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-6-19
Journal Detail:
Title:  The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians     Volume:  -     ISSN:  1476-4954     ISO Abbreviation:  -     Publication Date:  2012 Jun 
Date Detail:
Created Date:  2012-6-20     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101136916     Medline TA:  J Matern Fetal Neonatal Med     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Affiliation:
Department of Obstetrics and Gynecology, Hospital Sant Pau, Barcelona, Spain.
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