Document Detail

Spinal muscular atrophy: manifestations and management.
MedLine Citation:
PMID:  22661569     Owner:  NLM     Status:  In-Data-Review    
Spinal muscular atrophy (SMA) is an autosomal recessive disorder caused by a homozygous deletion in the SMN1 gene and is manifested by loss of the anterior horn cells of the spinal cord. Classifications of the disorder are based on age of onset and the patient's level of function. Scoliosis and hip subluxation or dislocation are two musculoskeletal manifestations associated with SMA. Severity of scoliosis correlates with age at presentation. Bracing has been unsuccessful in halting curve progression and may interfere with respiratory effort. Early onset scoliosis associated with SMA has been successfully treated with growing rod constructs, and posterior spinal fusion can be used in older children. Hip subluxations and dislocations are best treated nonsurgically if the patient reports no pain because a high rate of recurrent dislocation has been reported with surgical intervention.
Addisu Mesfin; Paul D Sponseller; Arabella I Leet
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  The Journal of the American Academy of Orthopaedic Surgeons     Volume:  20     ISSN:  1067-151X     ISO Abbreviation:  J Am Acad Orthop Surg     Publication Date:  2012 Jun 
Date Detail:
Created Date:  2012-06-04     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9417468     Medline TA:  J Am Acad Orthop Surg     Country:  United States    
Other Details:
Languages:  eng     Pagination:  393-401     Citation Subset:  IM    
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