TABLE 1.
Individual (sex/age, y) | Age of Onset. y | Follow-Up, y | Site of Onset | Cervical Dystonia | Cranial Dystonia | Upper Limb Dystonia | Tremor | Myoclonus |
---|---|---|---|---|---|---|---|---|
Family 1 | ||||||||
I-1 (F/deceased) | 27 | — | Cervical | Torticollis | Laryngeal dysphonia, adductor dysphonia | — | Head, mild bilateral postural arms | |
II-1 (M/age 67) | 40 | 27 | Cervical | Torticollis to the right | Blepharospasm, adductor dysphonia | — | Head, mild bilateral postural asymmetric arms | |
II-4 (M/69) | 30 | 39 | Laryngeal | Torticollis | Blepharospasm, adductor dysphonia, oromandibular | Mild | Head; mild on the left arm | |
II-7 (W/deceased) | 30 | 27 | Cervical | Torticollis | Adductor dysphonia | — | Head, bilateral postural asymmetric arms | |
III-7 (W/36) | 19 | 17 | Cervical | Torticollis | Adductor dysphonia | Mild | Head | |
Family 2 | ||||||||
III-1 (M/65) | 3-4 | 61 | Cervical | Torticollis | Laryngeal, oromandibular, blepharospasm | — | Head, mild bilateral postural asymmetric arms | |
IV-1 (F/39) | 4-5 | 30 | Laryngeal | Torticollis | Laryngeal, oromandibular, blepharospasm | Mild fingers bilateral | Finger tremor and asymmetric arm tremor | Torticollis and retrocollic myoclonic jerks |
IV-2 (M/37) | 30 | 7 | Right arm | - | - | Mild fingers only on the right | Mild postural tremor, more on the right arm | |
Family 3 | ||||||||
II-1 (F/31) | 6 | 25 | Cervical | Torticollis | Laryngeal | Mild | Mild, postural and action, asymmetric arms; head | |
III-1 (M/9) | 6 | 3 | Left arm | No | No | - | Moderate, mainly on action, asymmetric arms | Proximal and distal myoclonic jerks (arms) |
F, female; M, male.