Clinical characteristics of dopa-responsive dystonia / 临床神经病学杂志

ABSTRACT

Objective To analyze the clinical characteristics of dopa-responsive dystonia (DRD). Methods The clinical characteristics and the causes of misdiagnosis in 15 patients with DRD were reviewed retrospectively.Results 4 male and 11 female patients were investigated in this study. The age at DRD onset was from 3~25 years old,the average age was 11.7 years old.The courses ranged from 2 to 29 years and the average was 12.1 years. The symptoms in female patients often aggravated during gravidity and delivery. Main clinical features included gait irregularity, postural instability and tremor, with marked diurnal fluctuation. The disease may be misdiagnosed as cerebral palsy, idiopathic torsion dystonia, essential tremor, parkinson's disease, neurosis and so on. All the patients in this study improved obviously in 2 weeks after therapy with low dose of Madopar, and recovered in 2~4 years of follow up.Conclusions Clinical diversity and diurnal fluctuation are the characteristics of DRD. Early trial treatment with low dose of Levodopa should be highly recommended for the generalized dystonia in children and untypical adults.