Clinical Characteristics Analysis For Dopa-responsive Dystonia

ObjectiveTo analyze the clinical characteristics of dopa-responsivedystonia(DRD).MethodsThe clinical characteristics of 6 familiar DRD patients and 12sporadic DRD patients were reviewed retrospectively.Results6 male and 12 female patients were investigated in this study. Theonset of DRD ranged from 1 to 28 years old with the average of 14.4years old. The course of disease persisted from 3 to 24 years with theaverage of 10.9 years. The cases in this study had the followingcharacteristics.(1) Females were involved more frequently than males with theratio of 2:1.(2) The onset was in childhood and adolescence.(3) Most patients started with dystonia and others with posture tremor.(4) The initial symptoms were age-related. Dystonia of lowerextremities was the initial symptoms in all 1 to 10 years oldonset patients.(5) The main manifestation included gait disturbance and posturetremor. Resting tremor and action dystonia were not noticed.Most patients were combined dystonia and Parkinsonism.(6) The symptoms and signs presented with marked diurnalfluctuation and got better after sleep in the daytime without anyrelation to the age of onset.(7) Some patients showed asymmetry of symptoms.(8) The incidence of dystonic hypertonus and tendon hyperreflexiawas high. False pathological reflex appeared in some patientsand vanished after therapy with low dose of L-dopa.(9) Brain CT/MRI scan, EEG, and serological test were normal.The K-F cycle was negative.(10) The clinical manifestations of all patients were improvedmarkedly and sustainedly after therapy with low dose ofL-dopa. Motor fluctuations and dyskinesias did not occur inpatients with long-term therapy.(11) No mental or psychological abnormalities and no autonomicnervous symptoms appeared. (12) The disease was easy to be misdiagnosed. The courses fromonset to diagnosis lasted from 1 to 28 years with the average of10.1 years.ConclusionThe clinical manifestations of DRD are various and correlated withage. Most patients present dystonia and/or Parkinsonism. Diumalfluctuation is the characteristics of DRD. L-Dopa shows marked andsustained effects on DRD patients. We recommend the treatment of lowdose of L-Dopa to be tried at least one month for atypical patients inclinical practice.