Table 1 Clinical data.
Case number | Initial clinical presentation | DYT‐1 status | Evolution of dystonia (functional impairment prior to DBS insertion) | Age at GPi DBS insertion | Preoperative BFMDRS Severity/ Disability | Postoperative BFMDRS (6 months) severity/disability | % Improvement in severity/disability (functional ability) |
---|---|---|---|---|---|---|---|
Case 1 | F, aged 10 | Negative | Bilateral upper limb and | 14 years | 77/21 | 30/20 (34/20 | 61/5. Walked unaided; |
years. | truncal dystonia; unable to | at 18 months) | easier wheelchair | ||||
Handwriting | walk, feed or wash unaided. | use; self‐care skills | |||||
deterioration | Schooling affected | modestly improved | |||||
Case 2 | M, aged 8 | Positive | Limbs, trunk and laryngeal | 15 years | 66/10 | 10/5 (8/3 at | 85/50. Almost normal |
years. | muscles affected; severe | 13 months) | gait (in‐toe, right foot); | ||||
Dystonia right | difficulties with walking, | independent care skills | |||||
foot | feeding and washing. | ||||||
Schooling affected | |||||||
Case 3 | F, aged | Negative | Limbs, trunk, laryngeal | 8 years; | 103/28 | 36/10 (41/17 | 65/64. Walked and |
18 months. | and oromotor muscles | revision | at 36 months, | used wheelchair; | |||
Dystonia left | affected; unable to use | aged 9 years | after battery | independent care skills | |||
foot | wheelchair due to posture. | due to lead | change) | ||||
Crawled to move; unable | displacement | ||||||
to stand or walk. | and | ||||||
Schooling affected | infection | ||||||
Case 4 | M, aged | Negative | Increased frequency of | 10 years | 85/17 | 62/9 (53/11 | 27/47. Paroxysmal |
14 months. | 1–2 min episodes. Wheel‐ | at 12 months) | dystonic episodes | ||||
Paroxysmal | chair bound, unable to walk, | eradicated, walked | |||||
dystonic | feed or wash unaided. | unaided; self‐care | |||||
episodes | Schooling affected | skills improved | |||||
BFMDRS, Burke, Fahn and Marsden Dystonia Rating Scale; DBS, deep brain stimulation; GPi, globus pallidus internus.