Table 1. Demographics and medical treatment in the two MDS patients.
Sex (M/F) | Age at surgery (years) | Age at onset (yeas) | DYT1 | DYT11 | Predominant complaints on admission | Myoclonus distribution | Dystonia distribution | Alcohol sensitivity | DBS | Previous medical treatment | Follow up (months) | |
---|---|---|---|---|---|---|---|---|---|---|---|---|
P1 | M | 30 | 12 | c.904_906delGAG, p.Glu303del(exon5) | c.1294 A > C, p.Ser432Arg (exon10) | myoclonus | neck, trunk, UL, LL | voice, neck, trunk, UL, LL | + | Vim, GPi* | trihexyphenidyl, selegiline, clonazepam | 54 |
P2 | M | 17 | 11 | c.904_906delGAG, p.Glu303del(exon5) | c.1294 A > C, p.Ser432Arg (exon10) | hand dystonia | UL, LL | voice, UL, LL | Not test | Vim | clonazepam | 6 |
MDS: myoclonus dystonia syndrome, M/F: Male/Female, DYT1: Torsin A gene mutation, DYT11: SGCE gene mutation, +: positive, −: negative, GPi: globus pallidus internus, Vim: ventral intermediate thalamic nucleus, UL: upper limb, LL: lower limb. *Initial bilateral Vim DBS was performed and subsequent bilateral GPi DBS was offered at 43 months after initial surgery.