Summary of the clinical information on the patients with HPD/DRD
| Patient No | ||||||||
|---|---|---|---|---|---|---|---|---|
| 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | |
| Age (y)/Sex | 36/F | 26/F | 23/M | 18/F | 23/M | 45/F | 58/F | 16/M |
| Age at onset (y) | 8 | 7 | 10 | 2 | 2 | 8 | 8 | 8 |
| Initial site of dystonia | Feet (L>R) | Feet (L>R), neck | R foot, neck | Feet, neck | All limbs | L arm | R foot | R 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 mutations | ATG→ATC | A→C (His144Pro) | Intron2, GT→CT | − | − | − | − | − |
| Others | Dysarthria | Dysarthria, MR1-150 | Spontaneous remission | |||||
