Dopa-responsive dystonia (DRD) or Segawa syndrome is a rare genetic disorder \u2013 progressive dystonia with diurnal fluctuations. The incidence of the disease is not very well studied. In the United Kingdom and in Japan it has been estimated as 0.5 : 1 000 000, but several authors believe that it is an underdiagnosed condition and frequently misdiagnosed as cerebral palsy. We describe a 11-year-old girl with a history of 2 years of progressive gait disturbance. The history showed diurnal fluctuation in the beginning and progressive course during the last 6 months. Her left toe was in an\u00a0 equinovarus posture, she had difficulties with walking and needed to stop and stretch the leg very often. Twenty-four hours after starting low dose dopamine a dramatic improvement was noted in her gait. On followup after one month there was barely detectable gait disturbance.
\nWe encourage trying to use L-dopa in all patients with dystonia owing to the possibility of DRD and the consequent quick and remarkable improvement of symptoms.<\/p>\n","protected":false},"excerpt":{"rendered":"
Dopa-responsive dystonia (DRD) or Segawa syndrome is a rare genetic disorder \u2013 progressive dystonia with diurnal fluctuations. The incidence of the disease is not very well studied. In the United Kingdom and in Japan it has been estimated as 0.5 : 1 000 000, but several authors believe that it is an underdiagnosed condition and …<\/p>\n","protected":false},"author":4,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[2],"tags":[1539],"class_list":["post-6027","post","type-post","status-publish","format-standard","hentry","category-articles","tag-case-history","authors-anneli-kolk-en","authors-inga-talvik-en","authors-kadi-veri-en","authors-katrin-gross-paju-en","authors-tiina-talvik-en"],"acf":[],"_links":{"self":[{"href":"https:\/\/eestiarst.ee\/en\/wp-json\/wp\/v2\/posts\/6027","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/eestiarst.ee\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/eestiarst.ee\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/eestiarst.ee\/en\/wp-json\/wp\/v2\/users\/4"}],"replies":[{"embeddable":true,"href":"https:\/\/eestiarst.ee\/en\/wp-json\/wp\/v2\/comments?post=6027"}],"version-history":[{"count":1,"href":"https:\/\/eestiarst.ee\/en\/wp-json\/wp\/v2\/posts\/6027\/revisions"}],"predecessor-version":[{"id":6028,"href":"https:\/\/eestiarst.ee\/en\/wp-json\/wp\/v2\/posts\/6027\/revisions\/6028"}],"wp:attachment":[{"href":"https:\/\/eestiarst.ee\/en\/wp-json\/wp\/v2\/media?parent=6027"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/eestiarst.ee\/en\/wp-json\/wp\/v2\/categories?post=6027"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/eestiarst.ee\/en\/wp-json\/wp\/v2\/tags?post=6027"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}