Parkinson's disease (PD) affects physical activity, and physical activity reduces the burden of PD. Although shown in studies using inertial measurement units (IMU), it remains unclear at which position physical activity change can best be detected in this population. Within the FAIRPARK-II trial, a subgroup of 25 newly diagnosed persons with PD (pwPD) not taking disease-specific medication yet documented their physical activity and, in parallel, wore IMUs on the most affected ankle, wrist and the lower back for two weeks. Participant-reported physical activity was transformed into Metabolic Equivalents of Tasks (METs) in 15-minute intervals using The Compendium of Physical Activities; Euclidean Norm Minus One (ENMO) values were calculated and averaged over the same intervals for the IMU data. Data of at least 3 days with at least four simultaneous 15-minute epochs of both valid IMU and diary data within the time window (9.00 to 18.00) per participant was included, resulting in a total of 8,494 15-minute epochs used for this analysis. Root mean square error (RMSE) values were calculated between scaled normalized IMU-derived ENMO and normalized MET values for each of the nine IMU-MET combinations (three IMU positions × three MET intensity levels). The wrist and lower back IMU showed comparable RMSE values across all MET intensity levels, with both IMU positions showing lower RMSE values than the ankle position. Tremor affected RMSE negatively, whereby the lower back position may be slightly favorable for the assessment of physical activity in those with tremor. This prospective longitudinal dataset from a very rare cohort provides novel insights into the assessment of physical activity during the earliest clinically evident phase of Parkinson's disease without disease-specific medication, which may inform future clinical trials and observational studies.

Most patients with a rare movement disorder (MD) do not receive a molecular diagnosis, and the underlying genetic variants and mediating genes remain elusive. Here, we evaluate the diagnostic accuracy of conventional and next-generation sequencing-based genetic testing strategies in a cohort of 2,811 individuals with ataxia, spastic paraplegia and dystonia. Exome sequencing establishes genetic diagnoses in 19.3% of cases, and specificity of phenotypic features and age at testing are positive predictors. Genome analysis 'beyond the exome' increases the diagnostic yield by 7.5%, mostly due to the improved detection of structural variants and repeat expansions. Unsolved cases are included in the Solve-RD cohort and subjected to gene-burden analysis, providing evidence for loss-of-function variants in X-chromosomal CD99L2 causing spastic ataxia. Cellular studies show that the transmembrane protein CD99L2 occurs mainly in a ubiquitinated form and serves as an activating interactor of the calcium-dependent protease CAPN1. Ablation of cytoplasmic or extracellular domains of CD99L2 leads to its intracellular mislocalization and abrogation of its interplay with CAPN1. Transcriptome analysis in CD99L2 patient-derived fibroblasts reveals synaptic function-specific disturbances. Impaired CAPN1 activation and dysregulation of downstream neuronal pathways constitute the likely molecular cause for neurodegeneration.

Parkinson’s disease (PD) is the fastest growing neurological disorder worldwide and, together with other movement disorders, belongs to a group of chronic neurological conditions associated with a substantial burden for affected individuals, caregivers, and healthcare systems. Despite significant advances in symptomatic treatment, disease-modifying therapies remain unavailable, shifting increasing attention toward prevention as a key therapeutic strategy. In this narrative we primarily focus on PD, as the epidemiologically most challenging condition and the one for which the most comprehensive evidence base for preventive strategies has been established. Preventive approaches relevant to other movement disorders are briefly discussed to highlight other promising targets requiring further investigations. In recent years major progress has been achieved in the identification of modifiable factors relevant for primary prevention of PD. Well-supported factors include physical activity, adherence to a Mediterranean diet, and caffeine or tea consumption as protective factors, as well as pesticide exposure as a relevant risk factor. Advances in early and prodromal diagnosis of PD have opened new perspectives for secondary prevention. Earlier identification of individuals at risk may enable timely interventions aimed at attenuating early disease progression. However, despite this progress, the systematic implementation of early therapeutic interventions in the prodromal phase remains limited. Evidence is sparse and largely indirect, mainly inferred from later disease onset associated with physical activity and dietary patterns. Similarly, although early diagnosis and treatment of cognitive impairment are clearly recommended by clinical guidelines, they remain insufficiently integrated into routine clinical care. Finally, tertiary prevention strategies are supported by a broad evidence base. Multidisciplinary rehabilitative care models have demonstrated clear benefits in preventing complications, maintaining daily functioning and quality of life. While such rehabilitative approaches are widely implemented, the strong evidence supporting moderate- to high-intensity physical exercise remains insufficiently translated into routine practice. Looking ahead, a key goal for the coming decades is the development of personalized prevention strategies, including beyond other insights into gene-environment interactions and the integration of multi-omics data to tailor interventions to individual risk profiles. Such approaches hold promise to maximize preventive efficacy and reduce the overall burden of PD and related movement disorders.

BACKGROUND:No disorder-specific patient-reported outcome measure (PROM) has yet been validated for functional movement disorders (FMDs), leaving a critical gap in clinical care and research. OBJECTIVE:To validate the FMD questionnaire (FMDQ) in a prospectively recruited sample through a multicentre study. METHODS:Confirmatory factorial analysis (CFA) tested the assumed structure of the questionnaire with factors reflecting severity of motor symptoms, impairment of everyday activities, impact of non-motor symptoms and impairment of social functioning. Internal consistency and floor/ceiling effects were examined. The 36-item short form health survey (SF-36), patient health questionnaire-15 (PHQ-15), the fatigue assessment scale (FAS) and a clinician-rated scale corresponding to motor symptom items of the FMDQ (FMDQ-CR) were used to test criterion and construct validity. The minimally clinically important difference (MCID) was assessed through distribution-based and anchor-based methods in a convenience sample of patients with follow-up assessments. RESULTS:Complete datasets from 157 patients were analysed; follow-up assessments were available from 30 patients. CFA confirmed that a four-factor model provides a better fit to the data compared with a more restrictive one-factor model. Internal consistency was appropriate for all factors/subscales. No floor or ceiling effects were detected. Criterion and content validity were supported by significant correlations with respective SF-36 subscores, PHQ-15, FAS and FMDQ-CR. Anchor-based MCID was estimated at 8 to 20 points, with the central value aligning with the distribution-based MCID of 12 points (8% of the total score range). CONCLUSIONS:The FMDQ is a psychometrically robust PROM, making it a useful tool for clinical practice and treatment trials.

METHODS:This non-interventional pilot study enrolled 20 CD-patients. Pridinol mesylate was prescribed additionally to the standard botulinum toxin (BoNT)-treatment at the initial visit (V1). Follow-up visits were performed after 4 (V2) and after 12 weeks (V3). Motor and non-motor symptoms were assessed using the Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS), the Dystonia Non-Motor Symptoms Questionnaire (DNMSQuest), the Beck Depression Inventory (BDI-II), and the EQ-5D-5L Quality of Life assessment. RESULTS:The TWSTRS part I motor score and BDI-II significantly improved from V1 to V3. The TWSTRS part III (pain) showed some effect between V1 and V2 and remained unchanged until V3. There was a significant negative correlation between the visual analog scale of the EQ-5D-5L and TWSTRS and a trend towards a positive correlation between TWSTRS part III and BDI-II. DISCUSSION:Our findings suggest, that pridinol mesylate has some additional clinical effect on motor symptoms and pain when added to BoNT-treatment.

Studies on motor imagery (MI) in writer's cramp (WC) dystonia are limited but may offer insights into impaired motor planning without the influence of dystonic co-contraction. This study used functional magnetic resonance imaging (fMRI) to compare executed writing and drawing of circles with kinaesthetic motor imagery in 18 WC patients and 18 healthy controls. Kinematic analysis confirmed the abnormal signature of WC by demonstrating a decreased frequency and an increased number of inversions during writing in WC patients. fMRI showed decreased BOLD activation during MI, with similar regions activated as in motor execution. Between-group differences during drawing demonstrated reduced activity in the bilateral precentral areas, left supplementary motor area, and right frontal medial area in WC patients. Imagined drawing revealed diminished activation in the left sensorimotor cortex, left superior frontal area, and right cerebellum (Vermis 4/5, Vermis 6, and Cerebellum 6) in WC patients. Writing and imagined writing led to abnormal activation in the superior occipital area and cuneus in WC patients. Direct comparison of writing and drawing in execution and MI conditions displayed a writing-specific deficit in the cuneus and occipital areas. We conclude that MI in WC dystonia offers a valuable opportunity to observe neural activity in similar regions as during motor execution. The observed writing-specific activation deficits in the occipital lobe may reflect dysfunction in the integration of printed/written features or a correlate of disrupted somatosensory processing.

OBJECTIVE:The objective was to evaluate the effects of deep brain stimulation (DBS) in an international cohort of patients with VPS16-related dystonia. METHODS:This observational study collected preoperative and postoperative demographic, clinical, stimulation, genetic, neuroimaging, and neurophysiological data of medically refractory DYT-VPS16 patients with implanted DBS in 10 international centers. Motor symptoms and disability outcomes were assessed using the Burke-Fahn-Marsden Dystonia Rating Scale Motor (BFMDRS-M) and Disability (BFMDRS-D) scales. A cut-off threshold for considering response to DBS was set at 25% of BFMDRS-M improvement at the last follow-up (FU) compared to baseline. RESULTS:The cohort consisted of 26 participants (17 men, 65.4%). Age at dystonia onset and surgery was 17.8 ± 10.9 and 35.3 ± 14.8 years, respectively. At the last FU, 102.5 ± 57.3 months (range, 2-216), the mean BFMDRS-M improvement was 41.6 ± 37.3% (26/26 patients) and 34.8 ± 42.6% for the BFMDRS-D (23/26 patients). Most patients (19/26, 73%) were considered responders. Higher motor improvement was associated with stimulation of the ventroposterior portion of the internal globus pallidus. A significant inverse relationship was observed between improvement in BFMDRS-M at last FU, and the presence of spasticity (p = 0.027) and fixed skeletal deformities (p = 0.001) before surgery. Non-responders had a younger age at disease onset and at implantation, shorter disease duration at DBS surgery, and higher baseline BFMDRS scores. INTERPRETATION:DBS was an effective treatment for three-quarters of patients with pathogenic VPS16 variants in our cohort. Mean motor improvement was most pronounced at the 1-year FU, but persisted at the last FU despite disease progression. ANN NEUROL 2025;98:711-725.

OBJECTIVE:Dystonia is one of the most prevalent movement disorders, characterized by significant clinical and etiological heterogeneity. Despite considerable heritability (~25%), the etiology in most patients remains elusive. Moreover, understanding correlations between clinical manifestations and genetic variants has become increasingly complex. METHODS:Exome sequencing was conducted on 1924 genetically unsolved, mainly late-onset isolated dystonia patients, recruited primarily from two dystonia registries (DysTract and the Dystonia Coalition). Rare variants in genes previously linked to dystonia (n = 406) were examined, confirmed via Sanger sequencing, and analyzed for segregation when possible. RESULTS:We identified 137 distinct likely pathogenic/pathogenic variants (according to ACMG criteria) across 51 genes in 163/1924 patients, including 153/1895 index patients (diagnostic yield 8.1%). The strongest predictors of a genetic diagnosis were generalized dystonia (28.6% yield) and age at onset (20.4% yield in patients with onset < 30 years). Notably, 56.2% of these variants were novel, with recurrent variants in EIF2AK2, VPS16, KCNMA1, and SLC2A1. Additionally, 321 index patients (16.9%) harbored variants of uncertain significance in 102 genes. The most frequently implicated genes included VPS16, THAP1, GCH1, SGCE, GNAL, and KMT2B. Presumably pathogenic variants in less well-established dystonia genes were also found, including KCNMA1, KIF1A, and ZMYND11. At least six variants (in ADCY5, GNB1, IR2BPL, KCNN2, KMT2B, and VPS16) occurred de novo, supporting pathogenicity. INTERPRETATION:This study provides valuable insights into the genetic landscape of dystonia, underscores the utility of exome sequencing for diagnosis, substantiates several candidate genes, and expands the phenotypic spectrum of some genes to include prominent, sometimes isolated dystonia.

Genetic studies of Parkinson's disease (PD) have focused on single nucleotide variants (SNVs), with limited attention to copy number variants (CNVs). This study investigates CNVs in PD using candidate PD-related genes and genome-wide approaches. We identified CNVs from the ProtectMove project genotyping data of 2364 PD patients and 2909 controls using PennCNV. We validated 119 of 137 detected CNVs in PD-related genes (87%) using MLPA/qPCR, including 104 in PRKN, six in PARK7, four in SNCA, and others in LRRK2, RAB32, and VPS35. CNVs were present in 2.4% of patients and 1.5% of controls. Notably, 0.9% of patients carried potentially disease-causing CNVs compared to 0.1% in controls. CNVs were enriched in patients (OR = 1.67, p = 0.03) due to PRKN CNVs, particularly in early-onset cases. These results highlight the importance of CNVs in PD, particularly in PRKN, and suggest that rare CNVs in LRRK2 and RAB32 may contribute to disease risk and diagnostic potential.

INTRODUCTION:The Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS) and the Collum-Caput (Col-Cap) concept are tools for clinically assessing cervical dystonia severity. However, the accuracy of human ratings using these scales has not been systematically evaluated due to the lack of objective reference measurements. This study aims to assess and compare the accuracy of human TWSTRS and Col-Cap ratings to evaluate their robustness for clinical and research applications. METHODS:One hundred pictures of 26 avatars mimicking cervical dystonia were created using the Rocketbox Avatar library. Forty-one movement disorder specialists rated the head and neck positioning of the avatars using either TWSTRS or Col-Cap. Movements were defined around two rotational levels (head, neck) in three rotational axes (pitch, yaw, roll). RESULTS:Ratings of angular deviations showed a mean absolute error of 5.8° (SD = 7.0). Rating accuracy was primarily influenced by the magnitude of angular deviation, with larger angles leading to greater estimation errors. Direct comparison of the rating scales revealed a higher accuracy through Col-Cap ratings (71 % vs. 63 % for TWSTRS). Years of clinical experience did not significantly affect rating accuracy. CONCLUSIONS:Both rating systems (TWSTRS and Col-Cap) show moderate accuracy in assessing head and neck positioning from computer-generated avatars, with Col-Cap showing slightly higher overall accuracy but struggling with precise differentiation between head and neck movements. These findings underscore the limitations of current clinical rating scales and highlight the need for more objective, reliable tools to effectively assess cervical dystonia.

BACKGROUND:Dystonia and Parkinson's disease (PD) exhibit clinical and genetic overlap, but the relevance of dystonia gene variants in PD remains unclear. OBJECTIVE:The aim was to assess the frequency of dystonia-linked pathogenic variants in PD. METHODS:We screened sequencing data from 15,684 individuals (8272 PD, 3200 atypical parkinsonism, and 4212 unaffected) from the Global Parkinson's Genetics Program (GP2) and Accelerating Medicines Partnership-Parkinson's Disease (AMP-PD) for variants in genes linked to isolated dystonia, dystonia-parkinsonism, and myoclonus-dystonia. RESULTS:Pathogenic variants were identified only in PD patients. Forty-five PD individuals (0.54%) carried 26 distinct (likely) pathogenic variants in nine dystonia-linked genes, most frequently in GCH1, followed by VPS16. CONCLUSION:Though rare, pathogenic variants in dystonia-linked genes are present in clinically and pathologically diagnosed PD. Our results reinforce GCH1 as a PD-relevant gene with clinical implications, whereas variants identified in other genes are rare and of uncertain relation to the PD phenotype. © 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

Background: The clinical presentation of Functional Movement Disorders (FMD) is highly variable, encompassing gait disturbances and a wide range of hyper- and hypokinetic movement abnormalities. The neurobiological correlates distinguishing different phenotypes, particularly functional gait disorders, remain poorly understood. Objective: To investigate whether functional gait disorders are associated with specific patterns of resting-state functional connectivity that distinguish them from other FMD phenotypes. Methods: Thirty-eight FMD patients (9 with isolated gait disorders, 9 with combined gait and other motor symptoms, 20 with non-gait motor symptoms) and 20 healthy controls underwent resting-state functional MRI. Using seed-based connectivity analysis with eight bilateral regions of interest of the general, non FMD-specific motor network, we examined functional connectivity patterns across groups. Results: Seed-based functional connectivity analysis revealed decreased connectivity between the left caudate nucleus and the left temporoparietal junction across gait disorder groups compared to both non-gait disorders and healthy controls. Patients with gait disorders showed decreased interhemispheric connectivity between primary sensorimotor areas compared to non-gait disorder patients, but partially increased connectivity compared to healthy controls. Both isolated and combined gait disorder groups demonstrated characteristic alterations in premotor-sensorimotor connectivity patterns, with distinct profiles between these subgroups. Conclusion: Our findings suggest distinct neurobiological signatures in functional gait disorders compared to other functional movement phenotypes. These findings might reflect specific pathophysiological mechanisms underlying functional gait disorders, particularly involving sensory feedback integration and motor control. These results provide new insights into the neurobiological basis of different FMD phenotypes and may contribute to the development of targeted therapeutic approaches.

Patients with Parkinson's Disease or a tremor syndrome may present with additional functional movement disorders. The differential diagnosis is particularly difficult. In some cases, functional symptoms occur either before the manifestation of the organic disease or can emerge as an additional symptom after Parkinson's disease or tremor became apparent. In patients with Parkinson's disease the prevalence for additional functional symptoms is 7 %. In the case that patients with Parkinson's diseases have one side that is more severely affected, additional functional motor symptoms such as functional rest tremor also occur on that same, predominantly affected side. Functional gait disorders occur frequently. Clinically, patients appear notably slow in automatized, daily tasks. Their speech is more whispering than hypophonic, bradykinesia during finger tapping manifest without a decrement. The Dopamintransporterszintigraphy (123) I FP-CIT SPECT; DaTSCANTM) may be helpful to differentiate between functional Parkinsonism and Parkinson's disease. Functional tremor in patients with an organic tremor syndrome is diagnosed with the same distraction techniques as in solely functional tremor. This includes cognitive, motor, and suggestive distraction maneuvers. In some cases, additional neurophysiological investigations such as accelerometry are useful for the differential diagnosis. It is most important to identify patients with additional functional symptoms in non-functional movement disorders, because the therapeutic approach differs and a multi professional team is required to initiate effective treatment strategies.

Zusammenfassung Patienten mit einer Parkinson-Erkrankung oder einem Tremor können zusätzliche funktionelle Symptome aufweisen. Diese können sowohl vor oder aber auch erst nach Manifestation der eigentlichen nichtfunktionellen Erkrankung auftreten. Dies erschwert die Differenzialdiagnose erheblich. Bei der Parkinson-Krankheit liegt die Prävalenz einer zusätzlichen funktionellen Bewegungsstörung bei 7 %. Bei Tremorsyndromen ist diese nicht systematisch untersucht. Beim funktionellen Parkinsonismus findet man am häufigsten motorische Beschwerden wie beispielsweise einen zusätzlichen Tremor gefolgt von Gangstörungen. Klassische klinische Zeichen sind eine auffallende, ablenkbare und variable Langsamkeit bei automatisierten, alltäglichen Aufgaben, eine flüsternde Sprache, eine Bradykinese im Finger-Tapping ohne Dekrement, ein variabler Tremor oder ein auffälliges Schnaufen, Grimassieren oder Atemanhalten beim Gehen. Eine Dopamintransporterszintigraphie (123)I-FP-CIT-SPECT; DaTSCAN™ kann in der Differenzialdiagnose eines funktionellen Parkinsonismus sehr hilfreich sein. Die Diagnose eines funktionellen Tremors bei einer bestehenden Tremorerkrankung erfolgt auf demselben Wege wie bei einem ausschließlich funktionellen Tremor. Dazu zählen die motorischen, kognitiven und suggestiven Ablenkungsmanöver ebenso wie etablierte neurophysiologische Messmethoden mithilfe der Akzelerometrie. Das Erkennen funktioneller Symptome im Rahmen anderer Bewegungsstörungen ist von großer Bedeutung, um frühzeitig entsprechende Therapiemöglichkeiten auszuschöpfen. Neben der Erläuterung der Diagnose ist eine anschließende multidisziplinäre Behandlung, die Physio‑, Ergo- und Sprachtherapie sowie psychotherapeutische Interventionen, insbesondere kognitive Verhaltenstherapie, umfasst, notwendig.

Background:Despite considerableheritability, previous smaller genome-wide associationstudies (GWASs) have not identified any robustgenetic risk factors for isolated dystonia.Objective:The objective of this study was to perform alarge-scale GWAS in a well-characterized, multicenter sample of >6000 individuals to identify genetic risk fac-tors for isolated dystonia. Methods:Array-based GWASs were performed onautosomes for 4303 dystonia participants and 2362healthy control subjects of European ancestry with sub-group analysis based on age at onset, affected bodyregions, and a newly developed clinical score. Another736 individuals were used for validation. Results:This GWAS identified no common genome-wide significant loci that could be replicated despitesufficient power to detect meaningful effects. Poweranalyses imply that the effects of individual variantsare likely very small. Conclusions:Moderatesingle-nucleotidepolymor-phism-based heritability indicates that common variantsdo not contribute to isolated dystonia in this cohort.Sequence-basedGWASs(eg,bywhole-genome sequencing) might help to better understand the geneticbasis. (c) 2024 The Author(s).Movement Disorderspubli-shed by Wiley Periodicals LLC on behalf of InternationalParkinson and Movement Disorder Society.

Background:Information on specialist physiotherapeutic treatment for functional movement disorders is scarce. Previous studies focussed on functional gait disorders and availability of descriptions of the practical application especially for other body regions is very limited. Cases:We present two illustrative cases, demonstrating the key elements of physiotherapy for the treatment of functional movement disorders beyond gait difficulties. The individual applicability of the specific core elements of physiotherapy, adapted to the individual needs of each patient, are described. We also explain, how different sensory stimuli can be used to shift attention away from symptoms and thus reduce them. Moreover, we discuss how patients' agency can be encouraged and how this results in therapy key moments, contributing to a sustained improvement of symptoms. Conclusion:Thus, our case series are intended to guide clinicians and therapists alike, to promote disease-specific physiotherapy for this common and treatable neuropsychiatric disorder.

BackgroundPathogenic variants in several genes have been linked to genetic forms of isolated or combined dystonia. The phenotypic and genetic spectrum and the frequency of pathogenic variants in these genes have not yet been fully elucidated, neither in patients with dystonia nor with other, sometimes co-occurring movement disorders such as Parkinson's disease (PD).ObjectivesTo screen >2000 patients with dystonia or PD for rare variants in known dystonia-causing genes.MethodsWe screened 1207 dystonia patients from Germany (DysTract consortium), Spain, and South Korea, and 1036 PD patients from Germany for pathogenic variants using a next-generation sequencing gene panel. The impact on DNA methylation of KMT2B variants was evaluated by analyzing the gene's characteristic episignature.ResultsWe identified 171 carriers (109 with dystonia [9.0%]; 62 with PD [6.0%]) of 131 rare variants (minor allele frequency <0.005). A total of 52 patients (48 dystonia [4.0%]; four PD [0.4%, all with GCH1 variants]) carried 33 different (likely) pathogenic variants, of which 17 were not previously reported. Pathogenic biallelic variants in PRKRA were not found. Episignature analysis of 48 KMT2B variants revealed that only two of these should be considered (likely) pathogenic.ConclusionThis study confirms pathogenic variants in GCH1, GNAL, KMT2B, SGCE, THAP1, and TOR1A as relevant causes in dystonia and expands the mutational spectrum. Of note, likely pathogenic variants only in GCH1 were also found among PD patients. For DYT-KMT2B, the recently described episignature served as a reliable readout to determine the functional effect of newly identified variants. (c) 2024 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

Background: Cervical dystonia (CD) is the most common form of focal dystonia in adults. Studies show that physiotherapy (PT) in combination with BoNT has an effect on pain in cervical dystonia. We intended to test this hypothesis in a real-world setting to answer the question of whether pain is a good target symptom for prescribing PT. We also aimed to assess which form of PT is most appropriate for the treatment of pain. Methods: Study design: cross-sectional survey-based study of 91 patients with a confirmed diagnosis of cervical dystonia. The survey consisted of a questionnaire on type, frequency and content of physiotherapy, an assessment of quality of life with the Craniocervical Dystonia Questionnaire 24 (CDQ 24) and subjective pain scores. Results: 53.8% of patients received physiotherapy, mostly a mixture of exercises to either correct the abnormal posture or to reduce the muscle tone. Additional therapies included stress-reducing exercises (14.3%), psychotherapy (9.9%) and EMG biofeedback (2.2%). Patients who received PT showed a non-significant tendency towards higher pain scores. The severity of dystonia-associated pain was significantly associated with the patients’ quality of life (F (1,54) = 22.9, adjusted R2 = 0.286, p < 0.001). Discussion: Pain is a frequent problem in patients with CD and severely affects quality of life. Physiotherapy could therefore be a valuable treatment option for patients with CD and pain. Highlights Our uncontrolled study illustrates the high frequency of physiotherapy in addition to BoNT treatment in a real-life cohort of patients with cervical dystonia. We were able to show that PT reduces patients’ perceived pain in a patient reported outcome measure. This highlights the importance of PT in reducing CD-related pain, which considerably impairs quality of life.