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Adult-onset dystonia: Atypical manifestation of Segawa disease

✍ Scribed by Jens Ulrich Regula; Uwe Thoden; Hans-Michael Meinck

Publisher: John Wiley and Sons
Year: 2007
Tongue: English
Weight: 95 KB
Volume: 22
Category: Article
ISSN: 0885-3185
DOI: 10.1002/mds.21377

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✦ Synopsis

Abstract

A 33‐year‐old woman developed exercise‐induced limb and trunk dystonia with marked diurnal fluctuations. Treatment with levodopa improved her symptoms considerably but incompletely. Molecular genetic analysis revealed a mutation in GTP cyclohydrolase 1 (GCH1). This report illustrates the variability of Segawa disease and underlines the importance of a levodopa test in patients with uncommon dystonic symptoms. © 2007 Movement Disorder Society

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