Summary of patient clinical features and mutations identifed
| Patient | Distribution of dystonia | Sex | Age at onset (y) | Age (y) | Site of onset | Family history | Benzhexol daily dose | Diurnal variation | Mutation identified |
|---|---|---|---|---|---|---|---|---|---|
| 1 | Generalised | F | 8 | 25 | Foot | Yes | 90 mg | No | None |
| 2 | Generalised | F | 5 | 20 | Foot | No | 20 mg | Yes | Pro23Leu, Lys224Stop |
| 3 | Generalised | M | 5 | 25 | Leg | Yes | 35 mg | No | None |
| 4 | Multifocal | M | 7 | 26 | Leg | No | 120 mg | No | None |
| 5 | Segmental | M | 9 | 19 | Foot | Yes | 30 mg | No | None |
| 6 | Generalised | F | 20 | 38 | Leg | Yes | 60 mg | No | None |
| 7 | Generalised | F | 7 | 20 | Foot | No | 15 mg | No | Asp115Asn |