Clinical findings in affected individuals from M-D families 1–10
| Family | FH | Pedigree number | Age of onset (years) | Sex | Myoclonic symptoms | Dystonic symptoms | Unusual features | Response to alcohol | Genetic findings |
|---|---|---|---|---|---|---|---|---|---|
| Index patients are in bold. | |||||||||
| FH, family history; NA, not available. | |||||||||
| 1 | + | III.1 | 4 | F | Left arm, head, and to a minor degree of right arm | Laterocollis, foot dystonia | None | Not tested | 966delT (SGCE) |
| III.2 | 9 | F | Head and upper extremities (L>R) | Laterocollis | None | Not tested | 966delT (SGCE) | ||
| II.3 | 10 | F | Mild to moderate; right arm | None | None | Not tested | No DNA available | ||
| II.4 | 9 | F | Right leg; mild action myoclonus of both arms | Right foot dystonia | Prominent leg involvement | Not tested | No DNA available | ||
| II.5 | 13 | F | Head during stress | None | None | Not tested | No DNA available | ||
| I.1 | ∼15 | M | Head; action myoclonus of both arms | Scoliosis (axial dystonia) | None | Not tested | No DNA available | ||
| 2 | + | III.2 | 14 | F | Both hands; prominent myoclonus of both legs | Right foot dystonia | Prominent leg involvement | Positive | No DNA available |
| III.5 | 7 | F | Both hands | None | None | Positive | 179 A>G (SGCE) | ||
| II.1 | 12 | F | Mild; both arms | Right laterocollis; dystonia of the right hand (particularly the thumb) | None | Positive | 179 A>G (SGCE) | ||
| II.3 | ∼10 | M | Both arms; action myoclonus of both legs | Right laterocollis with bilateral hand dystonia | None | Positive | No DNA available | ||
| II.5 | 15 | M | Mild; left hand (right hand amputated) | None | None | Positive | 179 A>G (SGCE) | ||
| 3 | + | II.1 | 3 | M | Head and hands | Laterocollis, dystonic movements of abdominal muscles | None | Negative | No mutation detected |
| I.2 | 22 | M | Head and arms | None | None | Positive | No mutation detected | ||
| I.3 | 11 | F | Rare; head; jerky postural hand tremor | None | None | Not tested | No DNA available | ||
| I.5 | 14 | F | None | Laterocollis, followed by writer’s cramp | None | Not tested | No DNA available | ||
| 4 | + | III.2 | 13 | F | Frequent; irregular; proximal; upper limbs, with deterioration on action | Both arms and right foot | None | Positive | No mutation detected |
| I.2 | 22 | F | Generalised | Discreet dystonic posturing of upper extremities | None | Not tested | No mutation detected | ||
| I.5 | NA | F | Hands | Unknown | Unknown | Not tested | No DNA available | ||
| 5 | + | III.2 | 7 | F | None | Writer’s cramp and intermittent lateral deviation of head while walking | None | Positive | No mutation detected |
| II.1 | 7 | F | Proximal; upper extremities with action-provoked deterioration | Laterocollis, axial rotational dystonia | None | Positive | No mutation detected | ||
| II.4 | 11 | M | Postural and action myoclonus of both arms | Axial and right arm dystonia | None | Not tested | No DNA available | ||
| I.2 | 24 | F | Head (when turning to the right) | Laterocollis | None | Not tested | No mutation detected | ||
| 6 | + | III.1 | 12 | M | Head, trunk, and proximal muscles of both arms (R>L) | Left laterocollis with torsion of the trunk to the right and mild dystonia of right leg | None | Positive | No mutation detected |
| I.1 | ∼10 | F | Head; laryngeal myoclonus | None | None | Positive | No DNA available | ||
| 7 | + | II.2 | 20 | F | Head and both arms (L>R) | Left torticollis and dystonia of left hand | None | Positive | No mutation detected |
| II.3 | 7 | F | Head and both arms | None | None | Positive | No DNA available | ||
| 8 | – | 19 | M | Both arms | Torticollis, dystonia of both arms | None | Negative | No mutation detected | |
| 9 | – | 5 | F | Head, both arms (R>L), laryngeal myoclonus, with infrequent action myoclonus of legs | Writer’s cramp of right hand | None | Positive | No mutation detected | |
| 10 | – | 9 | M | Mild in head and prominent, predominantly proximal in both arms (R>L) | Writer’s cramp (initial symptom), mild dystonia of left hand | None | Positive | No mutation detected | |