Dopa-responsive dystonia or Segawa disease in Ghana: a case report

Abstract

Dystonias are rare in childhood and consist of variably sustained twisting deformation of a limb or parts of a trunk. Dystonias can be considered primary because of a genetic disorder or secondary due to a central nervous system injury like cerebral palsy or medications. The rare dopa-responsive dystonia is often mistaken for cerebral palsy, stroke, localized limb trauma or conversion disorder. The aim of this report is to increase the awareness of a rare but eminently treatable type of dystonia known as dopa–responsive dystonia or Segawa disease. In this report a young girl with dystonia who was severely disabled and could not attend school was misdiagnosed as cerebral palsy for two years. After treatment with low dose L-dopa within 48 hours, a dramatic and sustained response with restoration of foot dystonia and mobility was observed. Recognition of L-dopa dystonia facilitates proper treatment and significant improvement in quality of life