Cases of dopa-responsive dystonia (Segawa disease) in Estonia.

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.

• Authors: Inga Talvik, Masaya Segawa, Kadi Veri, Katrin Gross-Paju, Tiina Talvik
• Journal: Brain & development (Brain Dev) Vol. 32 Issue 5 Pg. 428-31 (May 2010) ISSN: 1872-7131 [Electronic] Netherlands
• PMID: 19427147 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright 2009 Elsevier B.V. All rights reserved.

Chemical References

• Levodopa

Topics

• Adolescent
• Child
• Child, Preschool
• Dystonia (diagnosis, drug therapy, epidemiology, physiopathology)
• Estonia (epidemiology)
• Female
• Humans
• Levodopa (therapeutic use)
• Male
• Treatment Outcome