CASE HISTORY – December 2006

Dopa-responsive dystonia: literature overview and a case report


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Dopa-responsive dystonia (DRD) or Segawa syndrome is a rare genetic disorder – 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  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.
We 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.