L-DOPA in diurnal fluctuating dystonia: two different clinical presentations, one treatment

Abstract

Dopa-responsive dystonia (DRD) is a rare disorder in children and is notable for the fact that it can be effectively treated. The diagnosis of DRD assumes significant importance when there is a notable improvement in the patient's psychomotor and neurological development as a result of early intervention. The present case report aims to share two distinct clinical presentations, both firstly misdiagnosed as cerebral palsy and both had diurnal fluctuating of dystonia. In clinical presentations such as diurnal fluctuation suggestive of DRD, we aimed to emphasize that instead of waiting up to two years for genetic test results, evaluating the response to low-dose L-DOPA may support the patient's daily and vital functions during this period. Moving from treatment to diagnosis may still be a valid approach.

Keywords: Diurnal dystonia; Dopa-responsive dystonia.