title: Atypical phenotypes of DYT1 dystonia in three children.
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 7years 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.
  
  
  CONCLUSIONS
  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.
authors: Dr. Behçet Uz Children's Hospital, Pediatric Neurology Department, Turkey. drunsalyilmaz@yahoo.com
authors: Unsal
authors: U
authors: Yilmaz
authors: Deniz
authors: D
authors: Yüksel
authors: F Belgin
authors: FB
authors: Atac
authors: Deniz
authors: D
authors: Yilmaz
authors: Hasibe
authors: H
authors: Verdi
authors: Nesrin
authors: N
authors: Senbil
mesh_terms: D000293:Adolescent; D004422:Dystonia Musculorum Deformans / Q000235:genetics* / Q000503:physiopathology*; D005820:Genetic Testing; D006801:Humans; D008297:Male; D018832:Molecular Chaperones / Q000235:genetics*; D010641:Phenotype; D017384:Sequence Deletion / Q000235:genetics*
chemical_list: D018832:Molecular Chaperones; C108175:TOR1A protein, human