title: Broadening the phenotype of childhood-onset dopa-responsive dystonia.
abstract: 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.
authors.affiliation: Department of Neurology, The Adelaide and Meath Hospital/National Children's Hospital, Tallaght, Dublin 24, Ireland.
authors.forename: Elijah C
authors.initials: EC
authors.lastname: Chaila
authors.forename: Dominick J H
authors.initials: DJ
authors.lastname: McCabe
authors.forename: Norman
authors.initials: N
authors.lastname: Delanty
authors.forename: Danny J
authors.initials: DJ
authors.lastname: Costello
authors.forename: Raymond P
authors.initials: RP
authors.lastname: Murphy
mesh_terms: 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
chemical_list: D007980:Levodopa