Summary of the clinical information on the patients with HPD/DRD

Patient No
Age (y)/Sex36/F26/F23/M18/F23/M45/F58/F16/M
Age at onset (y)871022888
Initial site of dystoniaFeet (L>R)Feet (L>R), neckR foot, neckFeet, neckAll limbsL armR footR foot
Diurnal fluctuation++++++++
Dopa responsiveness (mg/day)+200+50+200+60+45+6001-151 +6001-151 +8001-151
Neurological signs:
 Legs affected more than arms+++++
GTP cyclohydrolase 1 gene mutationsATG→ATCA→C (His144Pro)Intron2, GT→CT
OthersDysarthriaDysarthria, MR1-150 Spontaneous remission
  • 1-150 MR = mental retardation.

  • 1-151 Without decarboxylase inhibitor.