Table 1 Summary of demographics and clinical features in case series
From: The phenomenology and treatment of idiopathic adult-onset truncal dystonia: a retrospective review
Case # | Sex | Age of onset | Presenting complaint | Family history of dystonia/genetic testing | Spine imaging or history of trauma | Exposure to dopamine depleting/blocking agents | Primary axial movement | Secondary axial movement | Involvement of other body regions | Action vs rest | Provoking positions or actions | Sensory trick | Treatment response |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | M | 64 | Pulling sensation of lower abdominal muscles | No/negative 14 gene dystonia-dyskinesia panel | MRI T/L spine: left L4/L5 herniated disc, exaggerated kyphosis of thoracic spine | No | Flexion | Slight right lateral tilt | No | Action | Standing, walking | Running, dancing, hands in posterior waistband of pants | BAC-small improvement THP (max dose unknown), CARB/LEVO, BTX-no benefit |
2 | M | 44 | Tightness and pulling in left lower back | No/no | MRI C/T/L spine: mild disc herniation and osteophytic changes, no cord pathology | No | Left lateral flexion | None | Downward left shoulder movement | Action | Walking or turning | Running | THP (6 mg/day), BTX-small improvement |
3 | M | 43 | Abdominal contractions | No/no | L4/L5 fusion for degenerative disc disease, 6 months post-op developed involuntary abdominal contractions | No | Flexion | None | Anterior right shoulder movement | Rest, worse with action | Sitting, worsened by standing or walking | None | BTX-50 % benefit CNZ, CARB/LEVO-no benefit THP (9 mg/day)-small benefit OXC, GBP, PGB-transient benefit |
4 | M | 54 | Muscle spasms in chest | No/no | MRI C/T/L spine: mild DJD, no cord pathology | No | Extension | None | No | Rest, worse with action | Supine, reclining, walking | None | BAC, THP (4 mg/day), CNZ, BTX-no benefit |
5 | M | 47 | Abnormal pelvic movements and gluteal clenching while standing | No/no | MRI C/T/L spine: no pathology | No | Flexion | Left lateral tilt | No | Action | Standing | Marching, running | CNZ-modest benefit THP (2 mg/day)-no benefit BAC, BTX-small benefit |
6 | M | 46 | Forward flexion of trunk when walking | No/no | MRI L spine: L4/L5 stenosis and mild-moderate disc herniation/ after symptom onset had L3-L5 laminectomy and L4/L5 disc micro-dissection with improvement in pain but no change in dystonia | No | Flexion | None | No | Action | Walking, running, going up/down stairs | Hands in pockets, holds hands against torso with mild pressure | BTX-70 % improvement THP (10 mg/day), BAC-no benefit |
7 | F | 35 | Pulling of the trunk backwards and to the right | No/no | MRI L spine: DJD at L4/L5 and L5/S1, no cord pathology | No | Extension | Right lateral tilt | No | Rest, worse with action | Writing, worsened by standing or walking | Running, leaning against wall, lying on stomach, voluntary inversion of right leg while walking | DBS-excellent benefit THP (12 mg/day), BAC, CARB/LEVO, LEV, BTX, HYZ-no benefit |