[Dopa-responsive dystonia (Segawa variant): clinical analysis of 7 cases with delayed diagnosis]

Authors present 6 cases of dopa responsive dystonia (DRD) with delayed diagnosis. DRD was firstly described by Segawa et al. in 1976, but in 90's its genetic linkage to chromosomes 14 and 11 was proven. It resulted in possible effective treatment (substitution with low dosages of levodopa). Nevertheless, the correct diagnosis is difficult. DRD usually starts as a foot dystonia with gait difficulties and subsequent overflow of dystonic movements to other muscles and parts of the body, with parkinsonian features and pyramidal signs in part of cases. Diurnal fluctuations with deterioration in the evening are typical for DRD. Dystonia starting in lower extremities may be misdiagnosed with cerebral palsy, what may have consequences in surgical interventions (as in our two cases). Authors present diagnostic difficulties in 6 cases with diagnosis made after 5 to almost 30 years after onset of symptoms and with several surgical interventions performed in 2 cases. The trial with levodopa is crucial for diagnosis and treatment, because low dosages are effective and there are no typical for juvenile parkinsonism treatment complications as dyskinesias and/or fluctuations. The take home message from literature and presented material should be not age dependent clinical trial with levodopa therapy in all cases of dystonia starting in extremities.