Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P50502 (Hip)
 7,003 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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.
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PMID:Spinal muscular atrophy: manifestations and management. 2266 69