AUTOSOMAL-DOMINANT TORSION DYSTONIA WITH ONSET IN INFANCY

Citation
Sh. Mostofsky et al., AUTOSOMAL-DOMINANT TORSION DYSTONIA WITH ONSET IN INFANCY, Pediatric neurology, 15(3), 1996, pp. 245-248
Citations number
21
Categorie Soggetti
Clinical Neurology",Pediatrics
Journal title
ISSN journal
08878994
Volume
15
Issue
3
Year of publication
1996
Pages
245 - 248
Database
ISI
SICI code
0887-8994(1996)15:3<245:ATDWOI>2.0.ZU;2-N
Abstract
We report a man and his daughter who had onset of dystonia during the first year of life, primarily involving their legs and consisting of b oth sustained postures and rhythmical 2-3 Hz twisting movements. They also had eccentric and irregularly shaped pupils, but no other neurolo gical abnormalities, This disorder differs from all familial dystonia syndromes described in the literature, including classic idiopathic to rsion dystonia, which has a later age of onset, This disorder probably represents a new autosomal dominant dystonia syndrome. (C) 1996 by El sevier Science Inc. All rights reserved.