Table 1
Patient characteristics and pharmacological treatment.
| Pt | Gender/age (yr) | Body distribution | Isolated or combined | Etiology | Pre-operative medical treatment | Post-operative medical treatment |
|---|---|---|---|---|---|---|
| 1 | M/8 | Generalized | Combined (spasticity) | Mitochondrial disorder | Gabapentin 100 mg; intrathecal baclofen 3 ug/hr | Unchanged |
| 2 | M/8 | Generalized | Isolated | Idiopathic | THP 20 mg | No |
| 3 | M/18 | Segmental | Isolated | Idiopathic | THP 24 mg; BTX | THP 24 mg |
| 4 | F/22 | Generalized | Isolated | ACTB mutation | THP 16 mg; tramadol 50 mg | THP 12 mg; clonazepam 1.5 mg; clozapine 18.75; BTX |
| 5 | F/32 | Segmental | Isolated | Idiopathic | Ibuprofen; BTX | No |
| 6 | M/9 | Generalized | Isolated | DYT-THAP1 | THP 21 mg; baclofen 12.5 mg | THP 11 mg |
| 7 | M/22 | Segmental | Isolated | TTPA | Vitamin E | Unchanged |
| 8 | M/47 | Generalized | Combined (spasticity) | Cerebral palsy | Antidepressants | Unchanged |
| 9 | M/53 | Segmental | Isolated | Idiopathic | Clonazepam 0.5 mg; BTX | BTX |
| 10 | F/65 | Segmental | Combined (parkinsonism) | Idiopathic | Pramipexole; L-dopa; Diazepam 5 mg; BTX | Pramipexole; L-Dopa |
| 11 | F/48 | Generalized | Isolated | ACTB mutation | THP 12 mg; clozapine 12.5 mg; oxazepam 10 mg; diclofenac; BTX antidepressant | THP 12 mg; clozapine 12.5 mg; antidepressant |
| 12 | F/63 | Segmental | Isolated | Idiopathic | Clonazepam 2.5 mg | Clonazepam 0.5 mg |
| 13 | M/62 | Segmental | Isolated | Idiopathic | BTX | Clonazepam 1.0 mg; BTX |
| 14 | F/8 | Generalized | Combined (spasticity) | Cerebral palsy | THP 1.5 mg; baclofen 12 mg; gabapentin 600 mg; clonazepam 0.5 mg | Unchanged |
| 15 | F/63 | Segmental | Isolated | Idiopathic | No | No |
[i] ACTB: beta-actin gene; BTX: botulinum toxin injections; THP: trihexiphenidyl; TTPA α-tocopherol transfer protein – vitamin E.
Table 2
Pre- and postoperative COPM scores for all functional priorities and per subcategory.
| COPM-Performance | COPM-Satisfaction | |||||
|---|---|---|---|---|---|---|
| Baseline | 1 year | Improved priorities† | Baseline | 1 year | Improved priorities† | |
| All priorities | 3.0 (1.0–4.0) | 7.0 (5.0–8.0) | 32/45* | 2.0 (1.0–3.5) | 7.0 (4.0–8.5) | 31/45* |
| Sitting and sleep | 3.0 (2.0–4.0) | 7.0 (5.5–8.0) | 8/9 | 2.0 (1.5–3.5) | 7.0 (3.5–9.0) | 5/9 |
| Self-care/ADL | 1.5 (1.0–4.3) | 6.0 (2.5–7.3) | 6/10 | 1.5 (1.0–3.0) | 6.5 (2.5–7.3) | 7/10 |
| Communication | 4.0 (3.0–4.0) | 8.0 (6.0–10.0) | 5/7 | 3.0 (1.0–4.0) | 9.0 (7.0–9.0) | 6/7 |
| Social/leisure | 3.0 (1.0–4.0) | 7.0 (3.0–7.0) | 4/7 | 3.0 (1.0–4.0) | 6.0 (1.0–7.0) | 4/7 |
| Transfer | 2.5 (1.3–4.8) | 6.5 (5.3–7.0) | 9/12 | 2.0 (1.0–3.8) | 6.5 (5.3–8.8) | 9/12 |
[i] ADL activities of daily living; † Change or 2 point or more between baseline and 1-year post-operative score. * p < 0.0001.
Supplementary Table 1
Absolute Burke-Fahn-Marsden Dystonia Rating Scale score pre- and postoperatively (n = 15).
| Pt | Gender/age (yr) | Distribution | Isolated or combined | Mean BFMDRS-M* | |
|---|---|---|---|---|---|
| Pre-DBS | Post-DBS | ||||
| 1 | M/8 | Generalized | Combined | 66 | 70 |
| 2 | M/8 | Generalized | Isolated | 55 | 31 |
| 3 | M/18 | Segmental | Isolated | 47 | 44 |
| 4 | F/22 | Generalized | Isolated | 81 | 33 |
| 5 | F/32 | Segmental | Isolated | 33 | 13 |
| 6 | M/9 | Generalized | Isolated | 71 | 69 |
| 7 | M/22 | Segmental | Isolated | 14 | 5 |
| 8 | M/47 | Generalized | Combined | 49 | 53 |
| 9 | M/53 | Segmental | Isolated | 23 | 14 |
| 10 | F/65 | Segmental | Combined | 16 | 8 |
| 11 | F/48 | Generalized | Isolated | 64 | 45 |
| 12 | F/63 | Segmental | Isolated | 17 | 18 |
| 13 | M/62 | Segmental | Isolated | 20 | 11 |
| 14 | F/8 | Generalized | Combined | 102 | 107 |
| 15 | F/63 | Segmental | Isolated | 9 | 10 |
[i] * Mean BFMDRS-M was calculated from the two scores of the experts.
BFMDRS-M: Burke-Fahn-Marsden Dystonia Rating Scale, Motor subcale; DBS: Deep brain stimulation.