Article
Broadening the phenotype of childhood-onset dopa-responsive dystonia.
Archives of neurology - 1 Aug 2006
Chaila Elijah C, McCabe Dominick J H, Delanty Norman, Costello Danny J, Murphy Raymond P
Abstract excerpt
BACKGROUND: Dopa-responsive dystonia (DRD) may cause early-onset dystonia, with extrapyramidal or pyramidal tract dysfunction. OBJECTIVE: To broaden the phenotype of DRD. SETTING: Tertiary referral university hospital. PATIENTS: We describe 4 female siblings with genetically confirmed DRD, 3 of whom presented with "unsteadiness" and 1 with scoliosis. All had dystonia and pyramidal tract signs, 3 had additional...
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