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.