title: Dopa-responsive dystonia: clinical and family study in Taiwanese.
abstract: We report the clinical features of four female patients with dopa-responsive dystonia (DRD), and the survey of the family members. The patients were 2 sisters and 2 sporadic patients from 3 families. Their age of onset ranged between 5 and 13 years. The clinical manifestation was characterized by limb dystonia which was relieved by L-dopa treatment. Diurnal fluctuation disappeared 15 years later in one patient. There was a wide spectrum of Parkinsonian features and variability of dystonia. Response of L-dopa was still excellent 20 years later. In survey of the family members, there was neither bradykinesia, rigidity, tremor nor dystonia.
authors.affiliation: Department of Neurology, Chang Gung Memorial Hospital and Medical College, Taipei, Taiwan.
authors.forename: R S
authors.initials: RS
authors.lastname: Chen
authors.forename: C C
authors.initials: CC
authors.lastname: Huang
authors.forename: C S
authors.initials: CS
authors.lastname: Lu
mesh_terms: D000328:Adult; D002230:Carbidopa / Q000008:administration & dosage / Q000627:therapeutic use*; D004359:Drug Therapy, Combination; D004421:Dystonia / Q000188:drug therapy* / Q000235:genetics*; D005260:Female; D006801:Humans; D007980:Levodopa / Q000008:administration & dosage / Q000627:therapeutic use*; D010375:Pedigree
chemical_list: D007980:Levodopa; D002230:Carbidopa