Cases of dopa-responsive dystonia (Segawa disease) in Estonia.
The aim of this report is to present the first four cases from three families of dopa-responsive dystonia diagnosed in Estonia. Diagnosis was performed by clinical evaluation and response to levodopa and was confirmed by gene analyses. The prevalence of dopa-responsive dystonia in Estonia was 1.4 per 100,000 (95%CI=0.39-3.65) children less than 18 years of age. In all children with dystonia it is important to think about possible dopa-responsive dystonia as this is treatable condition and improving the quality of life of children.
Talvik
Inga
I
Children's Clinic of Tartu University Hospital, Department of Paediatrics of Tartu University, Tartu, Estonia. inga.talvik@kliinikum.ee
Segawa
Masaya
M
Veri
Kadi
K
Gross-Paju
Katrin
K
Talvik
Tiina
T
D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D004421:Dystonia / Q000175:diagnosis* / Q000188:drug therapy* / Q000453:epidemiology / Q000503:physiopathology; D004957:Estonia / Q000453:epidemiology; D005260:Female; D006801:Humans; D007980:Levodopa / Q000627:therapeutic use*; D008297:Male; D016896:Treatment Outcome
D007980:Levodopa