Familial Adolescent-Onset Scoliosis and Segmental Dystonia

Idiopathic scoliosis is a common disorder characterized by abnormal curvature of the spine with onset typically in adolescence. Adult-onset primary torsion dystonia (AOPTD) is a focal dystonia with onset in early-middle age consisting of abnormal twisting or directional movements and postures; common phenotypes include cervical dystonia, blepharospasm, and focal hand dystonia. Numerous case reports and case–control studies indicate an association between childhood and adolescent-onset scoliosis and the subsequent development of adult-onset focal dystonia, most commonly cervical or segmental dystonia. In this review we examine the literature linking these two disorders and consider the pathophysiology of their association.