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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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RELATED LETTERS

Babinski, Pseudo-Babinski, and Dystonia
Martin W. I. M. Horstink, Charlotte Haaxma, Bastiaan R. Bloem, and Jaak Duysens
Arch Neurol. 2007;64(8):1207-1209.
EXTRACT | FULL TEXT  

Babinski, Pseudo-Babinski, and Dystonia—Reply
Dominick J. H. McCabe, Elijah C. Chaila, Norman Delanty, Danny Costello, and Raymond P. Murphy
Arch Neurol. 2007;64(8):1209.
EXTRACT | FULL TEXT  

THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES

Babinski, Pseudo-Babinski, and Dystonia
Horstink et al.
Arch Neurol 2007;64:1207-1209.
FULL TEXT  

Babinski, Pseudo-Babinski, and Dystonia Reply
McCabe et al.
Arch Neurol 2007;64:1209-1209.
FULL TEXT