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Broadening the Phenotype of Childhood-Onset Dopa-Responsive Dystonia
Elijah C. Chaila, MRCPI;
Dominick J. H. McCabe, PhD, MRCPI;
Norman Delanty, FRCPI;
Danny J. Costello, MRCPI;
Raymond P. Murphy, FRCPI
Arch Neurol. 2006;63:1185-1188.
Background Dopa-responsive dystonia (DRD) may cause early-onset dystonia, with extrapyramidal or pyramidal tract dysfunction.
Objective To broaden the phenotype of DRD.
Setting Tertiary referral university hospital.
Patients We describe 4 female siblings with genetically confirmed DRD, 3 of whom presented with "unsteadiness" and 1 with scoliosis. All had dystonia and pyramidal tract signs, 3 had additional extrapyramidal features (resting tremor, bradykinesia, or rigidity), and at least 2 had definite signs of cerebellar dysfunction.
Main Outcome Measures The subjective response to treatment with 62.5 mg of a combination product of levodopa and carbidopa 3 times daily was assessed at both 6- and 12-month follow-up visits with the 7-item Patient's Global Impression of Change Scale as very much improved, much improved, a little improved, no different, a little worse, much worse, or very much worse.
Results All patients showed a good response to levodopa therapy 41 to 49 years after symptom onset.
Conclusion Cerebellar signs may be observed in patients with DRD and may improve in response to levodopa.
Author Affiliations: Departments of Neurology, The Adelaide and Meath Hospital, incorporating the National Children's Hospital, Trinity College Dublin (Drs Chaila, McCabe, Costello, and Murphy), and Beaumont Hospital (Dr Delanty), Dublin, Ireland; and University Department of Clinical Neurosciences, Royal Free and University College Medical School, Royal Free Hospital, London, England (Dr McCabe).
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