Non-progressive central core disease with severe congenital scoliosis: a case report.
An extremely unusual case of central core disease combined with a congenital spine deformity is described. The congenital myopathy was non-progressive, but the scoliotic curve worsened markedly. This case was characterised also by the type of squatting ambulation the child used until the age of 12, when the limb contractures were corrected surgically and with casting, permitting her to walk in an upright position. It was not feasible to perform spinal surgery.
D001706:Biopsy; D002648:Child; D005260:Female; D006801:Humans; D008854:Microscopy, Electron; D009132:Muscles / Q000473:pathology; D009135:Muscular Diseases / Q000151:congenital* / Q000473:pathology; D012600:Scoliosis / Q000151:congenital* / Q000473:pathology