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Dopa-responsive dystonia: clinical and family study in Taiwanese.
Clinical Neurology and Neurosurgery 1996 Februrary
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.
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