Broadening the phenotype of childhood-onset dopa-responsive dystonia.
BACKGROUND
Dopa-responsive dystonia (DRD) may cause early-onset dystonia, with extrapyramidal or pyramidal tract dysfunction.


OBJECTIVE
To broaden the phenotype of DRD.


METHODS
Tertiary referral university hospital.


METHODS
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.


METHODS
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.


CONCLUSIONS
Cerebellar signs may be observed in patients with DRD and may improve in response to levodopa.
Chaila
Elijah C
EC
Department of Neurology, The Adelaide and Meath Hospital/National Children's Hospital, Tallaght, Dublin 24, Ireland.
McCabe
Dominick J H
DJ
Delanty
Norman
N
Costello
Danny J
DJ
Murphy
Raymond P
RP
D020821:Dystonic Disorders / Q000188:drug therapy* / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D006801:Humans; D007980:Levodopa / Q000627:therapeutic use*; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D013997:Time Factors
D007980:Levodopa