Patient (sex) | Age at onset | Site of onset | Age at generalisation | ΔGAG | Family history | Clinical features in affected relatives | ||
Limb onset generalised dystonia without spread to cervicocranial muscles | 1 (F) | 7 y 6 mth | L foot | 9 y 3 mth | + | Yes | Mother: mild generalised dystonia | |
2 (F) | 6 y 6 mth | R hand | 9 y 4 mth | + | Yes | PGF: writer's cramp, 2 unaffected | ||
3 (M) | 7 y | R hand | 7 y 7 mth | + | Yes | Father: spasmodic torticollis, 3 unaffected | ||
4 (M) | 15 y | Arm | ? | + | Yes | 4 generalised, 2 writer's cramp, 5 unaffected | ||
5 (M) | 12 y | R hand | 17 y | + | Yes | Mother: generalised dystonia | ||
6 (F) | 9 y | Arm | 30 y | + | Yes | Cousin: multifocal dystonia | ||
7 (M) | 7 y | L hand | 11 y 8 mth | + | Yes | Father: blepharospasm | ||
8 (F) | 9 y 8 mth | R hand | 11 y 8 mth | + | Yes | Brother: focal dystonia; MGF: writer's cramp, 1 unaffected | ||
9 (M) | 9 y | R hand | 10 y 6 mth | + | No | |||
10 (F) | 11 y 6 mth | L foot | 12 y 7 mth | + | No | |||
11 (M) | 7 y 1 mth | R foot | 9 y | + | No | |||
12 (M) | 7 y 9 mth | L foot | 10 y | + | No | |||
Limb onset generalised dystonia with spread to cervicocranial muscles | 13 (M) | 7 y 11 mth | R hand | 10 y 4 mth | + | Yes | Father: writer's cramp | |
14 (F) | 6 y | L foot | 8 y | + | No | |||
151-150 (M) | 1 y 1 mth | R hand | 1 y 6 mth | − | No | |||
161-150 (F) | 18 mth | L foot | 3 y 6 mth | − | No | |||
171-150 (F) | 2 y | L hand | 5 y | − | No | |||
181-150 (F) | 2 y 7 mth | Arm | 2 y 9 mth | − | No | |||
191-150 (F) | 3 y | R foot | 3 y 6 mth | − | No | |||
201-150 (F) | 3 y 6 mth | L foot | 8 y | − | No | |||
211-150 (F) | 5 y | R hand | 5 y 6 mth | − | No | |||
221-150 (F) | 8 y | L hand | 14 y | − | No | |||
231-150 (F) | 13 y | R hand | 14 y 6 mth | − | No | |||
241-150 (M) | 10 y | L foot | 15 y | − | No | |||
25 (F) | 4 y | Foot | 10 y | − | No | |||
26 (M) | 9 y | Leg | − | No | ||||
27 (M) | 12 y 6 mth | Arm | 14 y | − | No | |||
28 (F) | 12 y 6 mth | Arm | 20 y | − | No | |||
29 (F) | 3 y 4 mth | Leg | 13 y | − | No | |||
Generalised dystonia with other affected sites | 301-150 (F) | 2 y | Trunk, face | 2 y 6 mth | − | No | ||
311-150 (M) | 13 y | Neck, trunk | 18 y | − | No | |||
321-150 (M) | 22 y | Neck, trunk | 22 y | − | No | |||
331-150 (F) | 17 y | Dysarthria | ? | − | No | |||
Focal dystonia (writer's cramp) | 341-150 (M) | 2 y 6 mth | R hand | − (aged 11 y) | − | Yes | Sister: transient dystonia at 3 years | |
351-150(M) | 7 y | R hand | − (aged 9 y) | − | No |
PGF: paternal grandfather, MGF: maternal grandfather,
↵1-150 patients analysed for additional mutations by transcript analysis, ?: unknown.