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Adult‐onset dystonia: Atypical manifestation of Segawa disease
Author(s) -
Regula Jens Ulrich,
Thoden Uwe,
Meinck HansMichael
Publication year - 2007
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.21377
Subject(s) - levodopa , dystonia , disease , trunk , degenerative disease , gtp cyclohydrolase i , neurological disorder , medicine , pediatrics , psychology , central nervous system disease , psychiatry , parkinson's disease , biology , tetrahydrobiopterin , ecology , nitric oxide synthase , nitric oxide
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