Rigid spine syndrome.
A patient is described with distinctive clinical features including childhood onset of non-progressive muscle weakness, limitation of flexion of the neck and spine, scoliosis, and joint contracture. Muscle biopsy and electromyography showed findings suggestive of a myopathic disorder. The combination of these distinctive clinical features is termed the rigid spine syndrome. Only six cases have been reported in the literature to date.
D000293:Adolescent; D003286:Contracture / Q000175:diagnosis; D004576:Electromyography; D006801:Humans; D007592:Joint Diseases / Q000473:pathology; D008297:Male; D009132:Muscles / Q000473:pathology; D009135:Muscular Diseases / Q000175:diagnosis* / Q000473:pathology; D012600:Scoliosis / Q000175:diagnosis; D013122:Spinal Diseases / Q000175:diagnosis*; D013577:Syndrome