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Published on: September 12, 2020
Cases of dopa-responsive dystonia (Segawa disease) in Estonia
Inga Talvik1, Masaya Segawa, Kadi Veri
1Children's Clinic of Tartu University Hospital, Department of Paediatrics of Tartu University, Tartu, Estonia. inga.talvik@kliinikum.ee
Abstract:
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.
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