Table e-1.Clinical characteristics of manifesting carriers of the DYT1 and DYT6 dystonia mutations

Subject number / Mutation / Sex / Age, y / Disease duration, y / Distribution / Localization / BFM scale / Medications / Daily THX dose
1 / DYT1 / F / 24 / 11 / Focal / Right arm / 1 / THX / 25.5 mg
2 / DYT1 / M / 24 / 6 / Segmental / Bibrachial / Missing data / BTX, BCF, Clonazepam / n/a
3 / DYT1 / M / 40 / 31 / Generalized / Arms, legs, trunk / 33 / THX, BCF, Zonisamide / 80 mg
4 / DYT1 / M / 41 / 32 / Generalized / Neck, arms, legs, trunk / 53 / THX / 75 mg
5 / DYT1 / F / 43 / 36 / Generalized / Voice, arms, legs / 17 / Levodopa, Zonisamide, THX / 52.5 mg
6 / DYT1 / F / 57 / 50 / Generalized / Face, right arm, right leg / 23 / Topiramate / n/a
7 / DYT1 / F / 57 / 45 / Multifocal / Neck, right arm, legs / 6.5 / Levodopa / n/a
8 / DYT1 / M / 64 / 54 / Generalized / Face, Neck, Arms, Legs, Trunk / 35 / THX / 8 mg
9 / DYT1 / M / 65 / 57 / Multifocal / Arms, legs / 19 / none / n/a
10 / DYT6 / F / 18 / 3 / Focal / Neck / 5 / THX / 30 mg
11 / DYT6 / F / 19 / 11 / Generalized / Voice, neck, arms, left leg, trunk / 23 / THX / 30 mg
12 / DYT6 / M / 19 / 6 / Generalized / Face, neck, right arm, legs / 10.5 / BTX, THX / 2.5 mg
13 / DYT6 / M / 19 / 3 / Focal / Voice / 2 / none / n/a
14 / DYT6 / F / 41 / 16 / Segmental / Bibrachial / 5 / none / n/a
15 / DYT6 / M / 45 / 10 / Segmental / Bibrachial / 6 / none / n/a
16 / DYT6 / F / 45 / 36 / Generalized / Face, trunk, arms, legs / 51 / Metaxalone, Pregabalin, Metoprolol / n/a
17 / DYT6 / F / 47 / 28 / Focal / Face, neck / 6 / THX / 30 mg

BFM scale = Burke-Fahn-Marsden Dystonia Rating scale; THX = trihexyphenidyl; BCF = baclofen; BTX = botulinum toxin injections