Hereditary progressive dystonia with diurnal fluctuation (Segawa's syndrome)--an unusual case

A young girl with hereditary progressive dystonia with diurnal fluctuation or Segawa's syndrome, completely handicapped and confined to a wheelchair between the age of 5 and 9, revealed an unusually slow response to levodopa. The ability to walk returned only after 12 to 14 months of treatment. Apart from peculiarities of behaviour due to longstanding immobility and ensuing parental overprotection, there were no psychological or mental abnormalities. Other organic diseases were ruled out. A series of regular follow-ups over the course of 7 years was performed. While residual and irregular day-to-day variation of functional capacities almost disappeared after conversion to a preparation with a decarboxylase inhibitor, some mild neurological abnormalities and a slight choreic hyperkinesia persisted with doses providing functional results. The patient today leads an almost normal teenage life and has performed well in school.