Adult-onset dystonia: atypical manifestation of Segawa disease.
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.
Regula
Jens Ulrich
JU
Neurologische Universitätsklinik Heidelberg, Im Neuenheimer Feld 400, D-69120 Heidelberg, Germany. jens_regula@med.uni-heidelberg.de
Thoden
Uwe
U
Meinck
Hans-Michael
HM
D000328:Adult; D015259:Dopamine Agents / Q000627:therapeutic use; D004421:Dystonia / Q000188:drug therapy / Q000473:pathology / Q000503:physiopathology*; D004576:Electromyography; D005260:Female; D006801:Humans; D007980:Levodopa / Q000627:therapeutic use; D008279:Magnetic Resonance Imaging / Q000379:methods
D015259:Dopamine Agents; D007980:Levodopa