Video 1.
Segment 1. Sister at Presentation, Age 11. This video demonstrates cervical dystonia and dystonic tremor, no dysmetria on the finger-to-nose test, left arm dystonia while writing, a narrow-based, steady gait, and normal tandem gait. Segment 2. Sister Post Treatment, Age 13.5. Treatment consisted of vitamin E (inconsistently for 10 months) and trihexyphenidyl (for 2.5 years). This video demonstrates intermittent head tremor, cervical dystonia, and no dysmetria on reaching, which was stable from the prior segment. There is subtle gait ataxia with impaired tandem gait.
Video 2.
Segment 1. Brother at Presentation, Age 14.5. This video demonstrates irregular head tremor at rest and dystonia of the neck, upper limb, and trunk that increases during reaching. There is subtle intention tremor on finger-to-nose test. Gait is normal-based and steady, with generalized dystonia, particularly involving the right shoulder, left arm, and both lower limbs. Segment 2. Brother 18 Months after Presentation, Age 16. Eighteen months after presentation, the patient has a broad-based, unsteady gait and dysdiadochokinesia. Generalized dystonia is unchanged. Segment 3. Brother Post Treatment, Age 17. Treatment consisted of vitamin E (for 10 months) and trihexyphenidyl (for 2.5 years). The patient’s dysdiadochokinesia has improved significantly. He has residual upper limb dysmetria on the finger-to-nose test. Gait ataxia and generalized dystonia were unchanged.
Figure 1
Magnetic Resonance Imaging (Brother). Coronal T2-weighted magnetic resonance imaging showing normal cerebellum.
Table 1
Clinical Characteristics and Treatment Response in Patients with AVED and Dystonia
| Study | Age at Onset (years) | Initial Symptoms | Age at Dystonia Onset (years) | Dystonia Distribution | Vitamin E Treatment (target dose/day; total duration) | Clinical Course |
|---|---|---|---|---|---|---|
| Krendel et al.17 | 7 | Gait difficulty, clumsiness, dysarthria | 19 | GDNeckUE LE | 3,600 IU; 5 mo | Stable |
| Stumpf et al.18 | 4 | Unsteady gait, | 30 | Face | 800 mg; 6 mo | Stable |
| Amiel et al.15 | 7 | Ataxia | 16 | FaceUE | 1,000 mg; 5 yr | Improved: social contact, speech |
| Jackson et al.19 | 7 | Head and hand tremor | 22 | GDFace NeckTrunkLE | 1,200 IU; 3 yr | Stable |
| Yokota et al.20 | 30 | ND | ND | ND | ND | Stable |
| Cavalier et al.21 | 3 | ND | ND | ND | ND | ND |
| Schuelke et al.22 | 9 | Clumsiness | 13 | ND | 40 mg/kg; 18 mo | Improved: psychiatric, cognitive, ataxia, dysarthria, sensation, Deep tendon reflex's |
| Angelini et al.5 | 8 | Cervical myoclonus- dystonia | At onset | NeckTrunk | 2,400 mg; 1.75 yr | Improved: ataxia, dystonia, myoclonus |
| Roubertie et al.16 | 8.6 | Gait instability, clumsiness, slurred/scanning speech | 11.75 | GDNeckTrunkUE LE | 2,000 mg; 5 yr | Improved: ataxiaOnset: progressive dystonia |
| Mariotti et al.3 | 8 | ND | ND | ND | 2,400 mg; 5 yr | Improved: ataxia, dystonia |
| Our case: female | 11 | Dystonic head tremor | At onset | NeckUE | 2,400 IU; 10 mo | Onset: ataxia |
| Our case: male | 11 | Dystonic head tremor | At onset | GDNeckTrunkUE LE | 2,400 IU; 10 mo | Improved: dysarthria, dysdiadochokinesia |