The phenomenology and treatment of idiopathic adult-onset truncal dystonia: a retrospective review
© The Author(s). 2016
Received: 17 August 2016
Accepted: 6 October 2016
Published: 24 October 2016
Focal dystonia is the most common type of adult-onset dystonia; however, it infrequently affects truncal musculature. Although commonly attributed to secondary etiologies such as a neurodegenerative illness or tardive syndromes, the entity of idiopathic adult-onset truncal dystonia has only been previously described in a few case reports and small case series. Here we characterize seven cases of adult-onset primary truncal dystonia and present them within the scope of the existing literature.
Retrospective chart review of medical records and patient videos of seven adult patients with idiopathic truncal dystonia evaluated by the senior movement disorder neurologists in an urban outpatient clinic.
The mean age of onset of idiopathic truncal dystonia was 47.6 years old and the majority of patients were male. Truncal flexion was the most common direction of dystonic movement and the dystonia was most frequently induced by action and could be improved by use of a sensory trick. The majority of patients were refractory to 3 or more oral treatments and only two patients exhibited significant functional improvement with botulinum toxin injections. One patient enjoyed significant benefit with bilateral internal globus pallidus deep brain stimulation.
Although a relatively rare presentation, patients with idiopathic adult-onset truncal dystonia can be identified by a common phenomenology. Diagnosis of this highly disabling condition is important because these patients are frequently refractory to multiple oral treatments and may benefit from early treatment with botulinum toxin or deep brain stimulation.
KeywordsTruncal Axial Dystonia Adult
Focal dystonia is the most common type of adult-onset dystonia, and dystonia may affect the face, voice, hand or leg. Aside from the neck, dystonia rarely affects axial musculature unless associated with exposure to a dopamine receptor blocker or as a feature of a neurodegenerative illness. Truncal dystonia is characterized by involuntary contractions and postures of the paraspinal, abdominal or chest muscles. Idiopathic truncal dystonia of adult onset has only been previously described in a few case reports and small case series.
Here we report seven cases of adult-onset dystonia involving primarily the axial musculature. We also compare the current case series to previous reports of idiopathic adult-onset truncal dystonia and review the challenges of designing effective treatments for this condition.
We conducted a retrospective review of medical records and patient videos of patients with the diagnosis of idiopathic truncal dystonia, evaluated by senior movement disorder physicians in the outpatient clinic of an urban academic center between 1/2009 and 1/2016. Patients were included if symptom onset occurred over 18 years of age and they exhibited primary dystonia of the trunk or axial muscles. Cases of secondary dystonia or tardive syndromes were excluded. The study was approved by the Institutional Review Board of the Mount Sinai School of Medicine. Written informed consent for videotaping and use of videos in research and publication was obtained prior to video recording.
Summary of demographics and clinical features in case series
Age of onset
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
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
Slight right lateral tilt
Running, dancing, hands in posterior waistband of pants
THP (max dose unknown), CARB/LEVO, BTX-no benefit
Tightness and pulling in left lower back
MRI C/T/L spine: mild disc herniation and osteophytic changes, no cord pathology
Left lateral flexion
Downward left shoulder movement
Walking or turning
THP (6 mg/day), BTX-small improvement
L4/L5 fusion for degenerative disc disease, 6 months post-op developed involuntary abdominal contractions
Anterior right shoulder movement
Rest, worse with action
Sitting, worsened by standing or walking
BTX-50 % benefit
CNZ, CARB/LEVO-no benefit
THP (9 mg/day)-small benefit
OXC, GBP, PGB-transient benefit
Muscle spasms in chest
MRI C/T/L spine: mild DJD, no cord pathology
Rest, worse with action
Supine, reclining, walking
BAC, THP (4 mg/day),
CNZ, BTX-no benefit
Abnormal pelvic movements and gluteal clenching while standing
MRI C/T/L spine: no pathology
Left lateral tilt
THP (2 mg/day)-no benefit
BAC, BTX-small benefit
Forward flexion of trunk when walking
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
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
Pulling of the trunk backwards and to the right
MRI L spine: DJD at L4/L5 and L5/S1, no cord pathology
Right lateral tilt
Rest, worse with action
Writing, worsened by standing or walking
Running, leaning against wall, lying on stomach, voluntary inversion of right leg while walking
THP (12 mg/day), BAC, CARB/LEVO, LEV, BTX, HYZ-no benefit
Compilation video of patients with truncal dystonia. Brief representative samples demonstrating the characteristic dystonic truncal movements exhibited by each patient in this case series are shown. The first patient exhibits primarily truncal flexion with subtle lateral tilt to the right; the second clip demonstrates left lateral flexion and the third patient experiences truncal flexion exacerbated by walking. The fourth clip shows truncal extension in contrast to the fifth patient who exhibits truncal flexion with mild left lateral tilt. The sixth clip demonstrates truncal flexion while the last case expresses primarily truncal extension with right lateral tilt. Of note, per the patient’s report, the abnormal postures of the right hand and leg seen in case 7 are voluntary mechanisms she employed to compensate for her axial dystonia.
Most patients proved refractory to multiple oral medications. In fact, five patients (71.4 %) were tried on three or more oral treatments (see Table 1) with minimal to no benefit. All seven patients were treated with trihexyphenidyl; however only two patients exhibited mild improvement in their dystonia while the other five had no benefit. Poor tolerability to low dose trihexyphenidyl limited dose escalation in three of the patients who showed no benefit (see Table 1 for maximum dose of trihexyphenidyl used in each patient). Similar findings were observed in the five patients treated with baclofen, with a mild benefit seen in 40 % and no benefit in the other 60 %. Botulinum toxin injections were attempted in all seven patients, with two patients (28.5 %) who exhibited at least 50 % functional improvement after injections. In both patients who exhibited significant functional improvement after injections, each received a total of 700U of onabotuliumtoxinA divided between multiple sites in the bilateral rectus abdominis muscles with continuing benefit for at least 1 year. All patients who showed functional benefit after botulinum toxin injections exhibited flexion as the primary direction of axial movement while no improvement was seen in the two patients with the extensor phenotype. One patient (Table 1, case 5) had deep brain stimulation (DBS) to the bilateral internal globus pallidus (GPi) with significant functional improvement sustained for at least 3 months (at the time of writing this paper).
Comparison of prior published reports of idiopathic truncal dystonia
No. of cases
Mean age of onset
Predominant truncal movement-flexion (%)
Predominant truncal movement-extension (%)
Predominant truncal movement-lateral (%)
Precipitated or worsened by action
Bhatia et al. 
In the majority
Zittel et al. 
Sobstyl et al. 
Shaikh et al. 
Voos et al. 
Current case series
Similar to our case series, most prior reports found that patients with adult onset truncal dystonia were refractory to multiple oral medications [1–5]. While two patients in our case series benefited from botulinum toxin injections, few prior studies report response to botulinum toxin in idiopathic truncal dystonia. One patient with flexion dystonia of the trunk did enjoy transient relief of the dystonia of his upper thoracic region with type A botulinum toxin injections, however he ultimately developed resistance and injections were no longer effective . Although pain relief was reported in some patients, other publications report no benefit with botulinum toxin [1, 2, 5]. Interestingly, in our case series, only patients with truncal flexion showed improvement after botulinum toxin injections while no benefit was seen in patients with truncal extension.
Bilateral GPi DBS has been previously shown to improve axial symptoms in patients with primary generalized dystonia  in addition to patients with truncal dystonia occurring as a result of secondary etiologies [7–10]. However, there are only a few case reports of the use of DBS in the treatment of primary truncal dystonia. Shaikh et al report a series of 4 patients with adult-onset axial dystonia who were treated with bilateral GPi DBS. All patients exhibited a substantial functional improvement in truncal dystonia with percent improvement in the Burke-Fahn-Marsden dystonia rating scale (BFMDRS) ranging from 72.4 to 100 % . Another case of predominately adult-onset axial dystonia, although also with later spread to the neck and shoulders, demonstrated complete improvement in axial symptoms after 12 months of treatment with bilateral GPi stimulation. A similar patient with adult onset truncal dystonia exhibited a substantial improvement in axial dystonia with unilateral GPi stimulation (BFMDRS motor score decreased from 33 to 6 after 6 months) . Our patient who was treated with bilateral GPi DBS stimulation showed a similar excellent response to GPi stimulation after 3 months.
Limitations of our case series include the fact that genetic testing was not completed on most patients. Additionally, while all patients denied prior exposure to neuroleptics, it is possible that a tardive case may have been inadvertently included. Given that this was a retrospective chart review, the treatments tried in each patient were not standardized, complicating direct comparisons. Similarly, botulinum toxin injections were not standardized, and different injectors employed different techniques, injected different muscle groups, and used different doses. We also do not have long-term data available on some patients, including the long-term response to DBS. Nevertheless, we believe that our patients add to the growing recognition of this syndrome.
Identification of this highly disabling condition is important, as most patients are refractory to the typical oral treatments for dystonia. Early treatment with botulinum toxin or DBS might be considered to reduce the degree of functional impairment.
Burke-Fahn-Marsden dystonia rating scale
Deep brain stimulation
Internal globus pallidus
This study has no sponsors or funding support.
Availability of data and material
The dataset supporting the conclusions in this article is available in an Excel spreadsheet at the Icahn School of Medicine at Mount Sinai, department of neurology.
DJE contributed to data collection and analysis, video editing, creation of figures, and manuscript preparation and revision. SJF contributed to the study design, evaluated and identified appropriate cases, supervised the collection of study data and data analysis, and manuscript preparation and revision. Both authors read and approved the final manuscript.
The authors declare that they have no competing interests.
Consent for publication
All patients in this study signed consent for videotaping and the use of videos for research and scientific publication.
Ethics approval and consent to participate
This study was approved by the Institutional Review Board of the Mount Sinai School of Medicine (HS#: 16-00136).
Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
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