Image-based Quantification of Postural Deviations on Patients with Cervical Dystonia: A Machine Learning Approach Using Synthetic Training Data
Authors: Roland Stenger, Sebastian Löns, Nele Brügge, Feline Hamami, Alexander Münchau, Theresa Paulus, Anne Weissbach, Tatiana Usnich, Max Borsche, Martje G. Pauly, Lara M. Lange, Markus A. Hobert, Rebecca Herzog, Ana Luísa de Almeida Marcelino, Tina Mainka, Friederike Schumann, Lukas L. Goede, Johanna Reimer, Julienne Haas, Jos Becktepe, Alexander Baumann, Robin Wolke, Chi Wang Ip, Thorsten Odorfer, Daniel Zeller, Lisa Harder-Rauschenberger, John-Ih Lee, Philipp Albrecht, Tristan Kölsche, Joachim K. Krauss, Johanna M. Nagel, Joachim Runge, Johanna Doll-Lee, Simone Zittel, Kai Grimm, Pawel Tacik, André Lee, Tobias Bäumer, Sebastian Fudickar
Organizations: Institute of Medical Informatics, University of Lübeck, Lübeck, Germany · Lübeck Centre for Rare Diseases, University Medical Center Schleswig-Holstein, Lübeck, Germany · Institute of Systems Motor Science, University of Lübeck, CBBM, Lübeck, Germany · German Research Center for Artificial Intelligence, AI in Medical Image and Signal Processing, Lübeck, Germany · Department of Neurology, University Medical Center Schleswig-Holstein, Campus Lübeck, Lübeck, Germany · Institute of Neurogenetics, University of Lübeck, Lübeck, Germany · Department of Neurology, University Medical Center Schleswig-Holstein, Campus Kiel, Kiel, Germany · Department of Neurology with Experimental Neurology, Movement Disorders and Neuromodulation Unit, Charité-Universitätsmedizin Berlin, Corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Berlin, Germany · Department of Neurology, Park-Klinik Weißensee, Berlin, Germany · Department of Neurology, University Hospital Würzburg, Würzburg, Germany · Department of Neurology, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine-University Düsseldorf, Düsseldorf, Germany · Department of Neurology, Maria Hilf Clinics, Mönchengladbach, Germany · Department of Neurosurgery, Hannover Medical School, Hannover, Germany · Department of Neurology, Hannover Medical School, Hannover, Germany · Department of Neurology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany · Department of Parkinson’s disease, Sleep and Movement Disorders, University Hospital Bonn, Bonn, Germany · Institute of Music Physiology and Musicians’ Medicine, University of Music, Drama and Media Hannover, Germany · Department of Neurology, TUM Klinikum Rechts der Isar, Munich, Germany · Section for Clinical Research IT (SKFIT), Institute of Medical Biometry and Statistics (IMBS), University of Lübeck, Lübeck, Germany
Cervical dystonia (CD) is the most common form of dystonia, yet current assessment relies on subjective clinical rating scales, such as the Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS), which requires expertise, is subjective and faces low inter-rater reliability some items of the score. To address the lack of established objective tools for monitoring disease severity and treatment response, this study validates an automated image-based head pose and shift estimation system for patients with CD. We developed an assessment tool that combines a pretrained head-pose estimation algorithm for rotational symptoms with a deep learning model trained exclusively on ~16,000 synthetic avatar images to evaluate rare translational symptoms, specifically lateral shift. This synthetic data approach overcomes the scarcity of clinical training examples. The system's performance was validated in a multicenter study by comparing its predicted scores against the consensus ratings of 20 clinical experts using a dataset of 100 real patient images and 100 labeled synthetic avatars. The automated system demonstrated strong agreement with expert clinical ratings for rotational symptoms, achieving high correlations for torticollis (r=0.91), laterocollis (r=0.81), and anteroretrocollis (r=0.78). For lateral shift, the tool achieved a moderate correlation (r=0.55) with clinical ratings and demonstrated higher accuracy than human raters in controlled benchmark tests on avatars. By leveraging synthetic training data to bridge the clinical data gap, this model successfully generalizes to real-world patients, providing a validated, objective tool for CD postural assessment that can enable standardized clinical decision-making and trial evaluation.
Figures & tables
Figure 1: Computational pipeline for TWSTRS item estimation. TWSTRS=Toronto Western Spasmodic Torticollis Rating Scale.
Figure 2: Synthetic avatar dataset and clinical examples of cervical dystonia. (A) Examples of synthetic avatar images used for model training. The dataset includes frontal renderings with varying camera perspectives, lighting, backgrounds, clothing, and morphologies across a range of symptom severities. (B) Front and side views of two individuals with cervical dystonia. Left: Characterized by mild torticollis (0.5), laterocollis (0.5), and a prominent lateral shift (0.7). Right: A complex syndrome featuring torticollis (2.5), laterocollis (0.9), and minimal retrocollis (0.5). Reported values represent the average of 10 independent clinical ratings using static items of the Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS).
TWSTRS item
Avatars ( α [CI])
Real images ( α [CI])
CI Overlap
Torticollis
0.67 [0.58-0.74]
0.64 [0.53-0.72]
Yes
Laterocollis
0.47 [0.37-0.56]
0.48 [0.39-0.56]
Yes
Anterocollis/ Retrocollis
0.81 [0.73-0.86]
0.56 [0.46-0.64]
No (avatars better)
Lateral shift
0.27 [0.19-0.35]
0.31 [0.20-0.40]
Yes
Table 1: Inter-rater reliability (Krippendorff’s α ) of human ratings with 95% bootstrap confidence intervals for synthetic avatar and real patient images.
Figure 3: Performance and clinical correlation of the TWSTRS algorithm. (A) Comparison of algorithm performance (true positive rate and accuracy) against human raters on the avatar benchmark with known ground-truth head deviations. (B) Correlation between TWSTRS estimations and mean clinical ratings on real-world clinical images across five items: torticollis, laterocollis, anterocollis/retrocollis, and lateral shift. Each dot represents a single patient image. TWSTRS = Toronto Western Spasmodic Torticollis Rating Scale.
Figure 4: Predictions of our proposed algorithm on each frame of a video, recorded by the Move2Screen app as an illustrative example use case of the algorithm. The tasks (green areas) are chosen to make symptoms accessible, like the maximal possible rotation, or the task to let the head move into the most comfortable position.
Figure 5: The annotation platform; A synthesized avatar demonstrating compound head and neck movements along the three principal axes of rotation: yaw (horizontal turning), pitch (vertical nodding), and roll (side-to-side tilting). (B) The Col-Cap evaluation interface, which uses interactive sliders to separately rate upper and lower cervical motion in each rotational plane. (C) Clinical scoring using the TWSTRS motor subscale, with categorical ratings for cervical postures including torticollis, laterocollis, anterocollis, retrocollis, shoulder elevation, and sagittal displacement. In this study, only TWSTRS estimations were used.
Score
Torticollis
Laterocollis
Anterocollis/Retrocollis
0
Absent (0°–4°)
Absent (0°–4°)
Absent (0°–4°)
1
Slight (5°–22°)
Mild (5°–15°)
Mild (5°–15°)
2
Mild (23°–45°)
Moderate (16°–35°)
Moderate (16°–35°)
3
Moderate (46°–67°)
Severe ( > 35°)
Severe ( > 35°)*
4
Severe (68°–90°)
-
-
Table 2: TWSTRS scores from angle ranges
Transformation
Key parameter
Probability
Horizontal Flip
-
p=0.5
Random stretch and compress
scale range = [0.7, 1.2]
p=0.4
Random cutout
min fraction = 0.1, max fraction = 0.4
p=0.2
Random rotation
degree range: [ −10∘ , +10∘ ]
p=0.3
Random resized crop
scale range = [0.6, 1.0], size = 240 × 240
p=0.6
Table 3: Data augmentation during training time.
Component
Setting
Backbone
EfficientNet - B0, 1×224×224 input
Regression head
Fully-connected (FC) → lateral shift
Loss function
Correlation aware loss: 0.7×MSE-loss+0.3×Concordance Corr. Coef. on training set; L1-norm on validation set
Institute for Neuro- and Bioinformatics, University of Lübeck, Germany · University Medical Center Schleswig-Holstein, Lübeck, Germany · IMAGE Information Systems Europe GmbH, Rostock, Germany +1