Spinal muscular atrophy: Manifestations and management

Addisu Mesfin, Paul D. Sponseller, Arabella I. Leet

Research output: Contribution to journalReview article

Abstract

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.

Original languageEnglish (US)
Pages (from-to)393-401
Number of pages9
JournalJournal of the American Academy of Orthopaedic Surgeons
Volume20
Issue number6
DOIs
StatePublished - Jun 1 2012

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ASJC Scopus subject areas

  • Surgery
  • Orthopedics and Sports Medicine

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