Atypical phenotypes of DYT1 dystonia in three children

• Published in: Brain & development (Tokyo. 1979) Vol. 35; no. 4; pp. 356 - 359
• Main Authors: Yilmaz, Unsal, Yüksel, Deniz, Atac, F.Belgin, Yilmaz, Deniz, Verdi, Hasibe, Senbil, Nesrin
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier B.V 01.04.2013
• Subjects: Adolescent; Childhood; Dystonia Musculorum Deformans - genetics; Dystonia Musculorum Deformans - physiopathology; DYT1 dystonia; Early onset; Genetic Testing; Humans; Male; Molecular Chaperones - genetics; Neurology; Phenotype; Sequence Deletion - genetics; DYT1 dystonia; Childhood; Early onset
• ISSN: 0387-7604; 1872-7131
• DOI: 10.1016/j.braindev.2012.06.001

Abstract DYT-1 dystonia is the most common primary dystonia seen in childhood. It is an autosomal dominantly inherited disorder caused by deletion of a GAG triplet in exon 5 of the DYT1 gene. It characteristically starts in a distal limb during late childhood, subsequently spreads to involve other body regions sparing oromandibular muscles. However, clinical presentation can vary remarkably with respect to age, site of onset and progression. In this study we present three early-onset DYT-1 dystonia patients who are atypical according to age of onset and localization. Dystonia has started at 2, 3 and 7 years of age and generalized to involve other limbs in all patients and also oromandibular muscles in one patient. None of them have benefited from medical treatments including L-dopa. All had normal brain MRI scan, a history of normal birth without significant perinatal asphyxia, infection or trauma and all are neurodevelopmentally otherwise normal. Conclusion: In children with dystonia; if brain imaging is unremarkable and when there is no history of CNS disorders such as perinatal asphyxia, infections, drug exposure or trauma; genetic analysis for GAG deletion of DYT-1 gene may be performed even if dystonia starts at a very young age or it spreads to involve oromandibular muscles.