Table 1. Clinical characteristics of five individuals with VPS16 mutations in the family.
| Pedigree No | Gender | Age onset (y) | Age exam (y) | Sites involved | Dystonia distribution | Site of onset | Fahn- Marsden Rating Scale | ||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Face | Neck | Larynx | Pharynx | Tongue | Jaw | Right arm | Left arm | Right leg | Left leg | Trunk | |||||||
| IV1 | F | 11 | Dead | · | · | · | · | · | · | · | · | · | · | · | G | Neck | – |
| IV6 | F | 12 | 59 | · | · | · | · | · | · | · | · | G | Neck | 36 | |||
| IV10 | M | 13 | 58 | · | · | · | · | · | · | · | · | · | · | · | G | Neck | 74 |
| IV18 | M | 13 | 45 | · | · | · | · | · | · | · | · | · | · | · | G | Neck | 44 |
| V5 | M | 14 | 35 | · | F | Neck | 2 | ||||||||||
Gender: F, female; M, male. Dystonia distribution: G, generalized; F, focal.