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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
  1. Abbreviations: C cervical, T thoracic, L lumbar, DJD degenerative disc disease, FHx family history, BAC baclofen, THP trihexyphenidyl (the maximal daily dose of THP tried in each patient is noted in parentheses), BTX botulinum toxin, CNZ clonazepam, CARB/LEVO carbidopa/levodopa, OXC oxcarbazepine, GBP gabapentin, PGB pregabalin, LEV levetiracetam, HYZ hydroxyzine, DBS deep brain stimulation