Dystonia, autoimmune disease and cerebral white matter abnormalities in a patient with 18p deletion.

Dr. Giorgio Adriano Paskulin – Clinical Genetics UFCSPA Rua Sarmento Leite 245 / 403 90050-170 Porto Alegre RS Brasil. E-mail: [email protected] Dystonia is a clinically and genetically heterogeneous disorder of movement characterized by involuntary and sustained muscle contractions and rigid postures affecting one or more sites of the body. It can be classified according to the distribution of affected body parts, age of onset and etiology. Up to now, at least 15 different loci (DYT1–DYT15) have been described in this condition. Adult-onset idiopathic torsion dystonia affecting specific parts of the body, such as the eye (blepharospasm), neck (cervical dystonia), and hand (writer’s cramp) has been associated with the DYT7 locus, located in the short arm of chromosome 18. Autoimmune diseases have been considered conditions associated with reactions of the immune system against selfantigens or body systems. They are disorders often associated with severe and chronic morbidity. In spite of recent advances, much of their etiology is still unknown. We describe a rare case of a patient with 18p deletion syndrome presenting focal dystonia, Hashimoto thyroiditis, vitiligo and cerebral white matter abnormalities.