Dopa responsive dystonia.

Objective To deepen the understanding and attention to dopa-responsive dystonia(DRD)[also hereditary progressive dystonia(HPD)or Segawa disease].Methods The clinical manifestations,labo-ratory findings and treatment in seven patients with DRD from different families diagnosed in this hospital dur-ing the recent 3years were analyzed,and the related literatures were reviewed.Results Seven patients with DRD(1male and6female)whose onset ages were6to29years,averaged(13.43±7.93)years.The mean course before diagnosis was1.5years in four cases;and the others had longer course s(25,47and16years respectively).The clinical symptoms in all of the cases were slow onset with stiffness and weakness of ex-tremities,or associated with tremor,toe flexion and talipes varus,and characterized by alleviation in the morn-ing and aggravation in the afternoon or evening.Somatoscopy showed rigid tension or cogwheel rigidity of the limbs,active tendon reflexes or hyperreflexia in both lower extremities in all cases and pathological reflex oc-curring in four cases.Other examinations including serologic test,cerebrospinal fluid,brain CT and MRI,and neuroelectrophysiological examination were all in normal range.There were significant effect on all patients treated with small dose of madopar.The average dosage was105.17mg /d.The longest treatment with madopar had been lasting for14years and the dosage needed not increasing.Conclu sion DRD is a rare hereditary movement disorder.The diagnosis of the disease is not difficult in patients with typical manifes-tions.There is significant and sustained effect on DRD with small dose of dopa preparations,treatment with artane or amantadine is effective in the early course.The attention should be payed in differentiating DRD from Parkinson's disease.[