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        <title>Dystonia | New and Recent Articles</title>
        <link>https://www.frontierspartnerships.org/journals/dystonia</link>
        <description>RSS Feed for Dystonia | New and Recent Articles</description>
        <language>en-us</language>
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        <pubDate>2026-04-21T19:55:59.958+00:00</pubDate>
        <ttl>60</ttl>
        <item>
        <guid isPermaLink="true">https://www.frontierspartnerships.org/articles/10.3389/dyst.2026.15695</guid>
        <link>https://www.frontierspartnerships.org/articles/10.3389/dyst.2026.15695</link>
        <title><![CDATA[Vibro-tactile stimulation as a non-invasive neuromodulation method to treat motor symptoms in focal dystonia: a systematic review]]></title>
        <pubdate>2026-04-17T00:00:00Z</pubdate>
        <category>Review</category>
        <author>Jürgen Konczak</author><author>Cagla Özkul</author><author>Scott Rooney</author><author>Shima Amini</author>
        <description><![CDATA[BackgroundSuperficial vibrotactile stimulation (VTS) is a non-invasive form of neuromodulation targeting tactile and proprioceptive mechanoreceptors known to influence reflexive and voluntary motor behavior and conscious proprioception.ObjectivesSystematically review empirical evidence on the behavioral, biomechanical and neurophysiological effects of VTS in focal dystonia and evaluate its suitability and potential as a clinical intervention in patients with focal dystonia.MethodsPUBMED, MEDLINE, CINAHL, and Cochrane Library databases were searched up to September 6, 2025. Included were studies that investigated underlying neurophysiological mechanisms of VTS and the behavioral effects in patients with dystonia. A total of 24 eligible studies were reviewed.ResultsThe review of empirical data indicated that VTS of dystonic regions is typically fast acting and can lead to symptoms reduction within minutes. Results show than VTS can 1) induce head righting and reduce pain in cervical dystonia, 2) improve voice quality and reduce speech effort in laryngeal dystonia, 3) normalize muscle activation in upper limb and cervical dystonia. Based on objective behavioral and biomechanical measures as well as subjective effect ratings by patients, between 57% and 85% of participants responded to VTS by reducing the frequency and magnitude of symptoms. Temporal post-treatment VTS effects varied widely, with short applications (4 s −15 min) decaying within minutes and longer applications (20–45 min) showing effects for hours or days. Major observable electrophysiological responses to VTS included 1) a reduction in EMG activity of vibrated muscle and its synergists, and increased activity of antagonistic muscles, 2) reduction of excessive neuronal synchronization over somatosensory-motor cortex, 3) and altered motor-evoked potentials of vibrated muscles, their synergists and antagonists.ConclusionThe reviewed empirical evidence indicates that VTS can reduce unwanted muscle spasms in various forms of focal dystonia. At present, there is no knowledge of optimal daily or weekly dosage. Initial evidence indicates that at-home application of VTS over months is feasible, but there is only inconclusive evidence about the long-term effects of VTS on FD symptoms and what differentiates responders from non-responders to VTS.]]></description>
      </item><item>
        <guid isPermaLink="true">https://www.frontierspartnerships.org/articles/10.3389/dyst.2026.15771</guid>
        <link>https://www.frontierspartnerships.org/articles/10.3389/dyst.2026.15771</link>
        <title><![CDATA[A grounded theory of illness representation among musicians with embouchure dystonia/syndrome]]></title>
        <pubdate>2026-04-01T00:00:00Z</pubdate>
        <category>Original Research</category>
        <author>Maxwell Zywica</author><author>Gabriel Radford</author><author>Rachel Carmen Ceasar</author><author>Bronwen J. Ackermann</author><author>Xenos L. Mason</author>
        <description><![CDATA[Musician’s Task-Specific Focal Dystonia (MD) is a neurological disorder that disrupts highly trained performance-specific motor programs. Among brass and wind players, the embouchure subtype (Embouchure Dystonia, ED) affects the orofacial musculature, often with career-ending consequences. Little is known about how illness representations influence therapeutic decision-making in this group. To address this gap, we conducted a constructivist grounded theory study using in-depth, semi-structured interviews with 14 brass and woodwind musicians experiencing embouchure-related dysfunction (here referred to as Embouchure Syndrome, ES) to explore cognitive, emotional, and cultural components of illness representation through the lens of Leventhal’s Common-Sense Model. Participants described conflicting explanations of symptoms, embodied struggles with tension and control, destabilized identities, and systemic and social barriers to care. Taken together, these accounts formed a theoretical construction wherein musicians oscillate between competing causal models, frame their symptoms along a mind-body continuum, and seek to manage cycles of tension and relaxation within an environment of redefinition of self and with variable opportunities for disclosure and treatment. We suggest that musicians’ conception of symptoms influences receptivity to both biomedical and rehabilitative strategies. These findings highlight the need for communication strategies that align with patient illness representation and understanding, for interdisciplinary care models, and for diagnostic framing that accounts for the lived experience of ES and other forms of Musician’s Dystonia.]]></description>
      </item><item>
        <guid isPermaLink="true">https://www.frontierspartnerships.org/articles/10.3389/dyst.2026.15530</guid>
        <link>https://www.frontierspartnerships.org/articles/10.3389/dyst.2026.15530</link>
        <title><![CDATA[Assessing vocal changes through spectral analyses of vocalizations in a cerebellar-specific dystonia mouse model]]></title>
        <pubdate>2026-03-27T00:00:00Z</pubdate>
        <category>Original Research</category>
        <author>Austin L. Fitzgerald</author><author>Jonathan A. Coello</author><author>Alyssa M. Lyon</author><author>Breanne L. Dao</author><author>Meike E. van der Heijden</author>
        <description><![CDATA[Vocal impairments are a debilitating but understudied feature of several dystonias, including generalized and early-onset genetic forms. Despite growing recognition that cerebellar dysfunction contributes to dystonic pathophysiology, the circuit mechanisms underlying vocal-motor abnormalities remain poorly understood, and effective treatments remain limited, in part due to the lack of a preclinical model that captures specific vocal features. Our experiment evaluates ultrasonic vocalizations (USVs) in Ptf1aCre/+;Vglut2fl/fl mice, a cerebellum-specific generalized dystonia model, to assess cerebellar contributions to phonation and explore translational relevance for vocal features. At postnatal day 9, dystonic mice demonstrated statistically significant reductions in total USV count, relative count of complex calls, and key spectral parameters—especially frequency modulation and power—mirroring general phonatory abnormalities seen in dystonia. Cluster analyses further revealed impaired vocal burst initiation, suggesting disrupted cerebellar coordination of temporal vocal-motor output. These findings support the model’s construct and face validity for studying cerebellar mechanisms of vocal impairment. By identifying quantifiable acoustic disruptions, our study establishes a foundational platform for future circuit-targeted investigations of vocal-motor dysfunction in dystonia.]]></description>
      </item><item>
        <guid isPermaLink="true">https://www.frontierspartnerships.org/articles/10.3389/dyst.2026.14631</guid>
        <link>https://www.frontierspartnerships.org/articles/10.3389/dyst.2026.14631</link>
        <title><![CDATA[Validation of a torsinA cerebellar knockdown model of DYT1 dystonia]]></title>
        <pubdate>2026-02-10T00:00:00Z</pubdate>
        <category>Brief Research Report</category>
        <author>Yuning Liu</author><author>Hong Xing</author><author>Fumiaki Yokoi</author><author>Ariel Luz Walker</author><author>Duo Chen</author><author>Edgardo Rodriguez-Lebron</author><author>Yuqing Li</author>
        <description><![CDATA[Dystonia is a movement disorder characterized by sustained or intermittent muscle contractions causing abnormal, often repetitive, movements, postures, or both. DYT1 dystonia is an early-onset dystonia caused by DYT1/TOR1A gene mutations with reduced penetrance. It is believed that dystonia is produced by abnormal brain networks, but details remain unknown. Recent studies have shown that acute cerebellar knockdown of torsinA using small hairpin RNAs (shRNAs) can induce overt dystonia in adult mice. However, shRNAs have off-target effects that may alter the expression of unintended genes. To avoid this issue, we generated an alternate acute torsinA knockdown model using cre-loxP technology by injecting AAV-cre into the cerebellum of the Dyt1loxP/loxP mouse. These knockdown mice exhibited overt dystonia and displayed a spinning behavior, characterized by bidirectional circling or spinning during tail suspension. The overt dystonia and spin behavior were not observed in control mice injected with the AAV-GFP virus. Additionally, the knockdown mice showed decreased spontaneous firing and reduced intrinsic excitability of Purkinje cells. These findings confirmed that the acute cerebellar knockdown of torsinA can produce overt dystonia and further support the cerebellum’s role in the pathogenesis of DYT1 dystonia. However, the emergence of a spinning phenotype raises questions about the validity of the acute knockdown models as accurate representations of human dystonia.]]></description>
      </item><item>
        <guid isPermaLink="true">https://www.frontierspartnerships.org/articles/10.3389/dyst.2025.15446</guid>
        <link>https://www.frontierspartnerships.org/articles/10.3389/dyst.2025.15446</link>
        <title><![CDATA[Brain network pathophysiology in dystonia]]></title>
        <pubdate>2026-01-30T00:00:00Z</pubdate>
        <category>Review</category>
        <author>David A. Peterson</author><author>Myungjoo Kim</author><author>Robert Chen</author><author>David Eidelberg</author><author>Cecile Gallea</author><author>Andreas G. Horn</author><author>Stephane Lehericy</author><author>Anthony R. McIntosh</author><author>Joel S. Perlmutter</author><author>Anna Sadnicka</author><author>Terrence D. Sanger</author><author>Emiliano Santarnecchi</author><author>Philip A. Starr</author><author>Jan K. Teller</author><author>Mark Hallett</author><author>Kristina Simonyan</author>
        <description><![CDATA[Dystonia is increasingly recognized as a disorder of brain networks. This review integrates multimodal evidence from human studies to characterize the network-level pathophysiology of dystonia. Structural MRI studies using voxel-based morphometry and diffusion imaging reveal alterations in gray matter volume and white matter connectivity across the sensorimotor cortex, basal ganglia, cerebellum, and thalamus. Functional imaging modalities, including PET, fMRI, EEG, MEG, and fNIRS, demonstrate aberrant activity and connectivity in cortico-striato-pallido-thalamocortical and cerebello-thalamocortical loops. Invasive electrophysiological recordings from deep brain stimulation (DBS) provide high-resolution insights into abnormal oscillatory activity and effective connectivity within these circuits. Non-invasive brain stimulation (NIBS) techniques such as TMS, TES, and TUS provide a means of actively interrogating those networks through transient perturbation. They also provide an avenue for personalized neuromodulation. Computational models, including The Virtual Brain platform, enable integration of multimodal data to simulate dynamic network behavior. Across focal, generalized, and genetic forms of dystonia, shared patterns of network dysfunction are observed, though phenotypic and genotypic subtypes exhibit distinct topographies and circuit-level alterations. These findings underscore the importance of network dysfunction underlying dystonia. This network perspective informs the development of more targeted and individualized diagnostic and therapeutic approaches, including circuit-guided neuromodulation and closed-loop brain stimulation. Advancing multimodal and integrative methodologies will be essential to unraveling the complex dynamics underlying dystonia and translating mechanistic insights into precision interventions.]]></description>
      </item><item>
        <guid isPermaLink="true">https://www.frontierspartnerships.org/articles/10.3389/dyst.2025.15368</guid>
        <link>https://www.frontierspartnerships.org/articles/10.3389/dyst.2025.15368</link>
        <title><![CDATA[Oral medication treatment patterns in blepharospasm and Meige syndrome: a multi-institutional TriNetX study]]></title>
        <pubdate>2025-11-21T00:00:00Z</pubdate>
        <category>Original Research</category>
        <author>Rachel J. Heo</author><author>Nitai Mukhopadhyay</author><author>Caileigh Dintino</author><author>Ahmed Negida</author><author>Matthew J. Barrett</author><author>Brian D. Berman</author>
        <description><![CDATA[BackgroundBlepharospasm (BSP) and Meige Syndrome (MeS) are focal dystonias frequently associated with disability and reduced quality of life. While botulinum neurotoxin is the standard of care treatment for these conditions, they only partially and transiently relieve symptoms and can be painful. A variety of off-label oral medications may be tried to mitigate motor symptoms in BSP and MeS, but current treatment patterns have not been assessed. We explored real-world oral medication prescription patterns in individuals with BSP and MeS and identified predictors that influence prescriptions.MethodsWe used TriNetX, a database of deidentified medical data from healthcare organizations around the world, to conduct a retrospective cohort study of oral medication prescription patterns of BSP and MeS. Patient demographics, diagnoses, and medication history were extracted. Medications of interest were grouped into nine classes and analyzed for prescription prevalence, documented prescription interval (first to last record), and prescription of multiple classes of medication. Prescription data and patterns for all medications were analyzed, and multivariate logistic regression models were used to assess the odds of oral medical treatments based on demographic factors.ResultsA total of 20,485 cases of BSP and 6,854 cases of MeS were identified across a 20-year index period. We found 46.7% of patients were treated with at least one class of medication, and that benzodiazepines were the most prescribed class followed by muscle relaxers and gabapentinoids. Lower odds of receiving any oral medication prescriptions were associated with being male, Asian, and in the Southern U.S. while higher odds were associated with being Black. Of those prescribed medications, 35.0% of patients were only prescribed a medication from one class while another 38.3% were prescribed medications from three or more classes.ConclusionIn a large database cohort, almost half of BSP and MeS patients were prescribed an oral medication that can lessen dystonia severity and the prescription patterns varied across sex, race, and region. In those patients prescribed an oral medication, more than a third are being prescribed medications from three or more different classes suggesting current oral medication treatment options for BSP and MeS may be inadequate.]]></description>
      </item><item>
        <guid isPermaLink="true">https://www.frontierspartnerships.org/articles/10.3389/dyst.2025.15390</guid>
        <link>https://www.frontierspartnerships.org/articles/10.3389/dyst.2025.15390</link>
        <title><![CDATA[Behaviorally coupled oscillations reveal distinct timing roles of basal ganglia and cerebellothalamic circuits in dystonia]]></title>
        <pubdate>2025-11-13T00:00:00Z</pubdate>
        <category>Original Research</category>
        <author>S. Alireza Seyyed Mousavi</author><author>Sina Javadzadeh</author><author>Mehrnaz Asadi</author><author>Richard B. Ivry</author><author>Terence D. Sanger</author>
        <description><![CDATA[As part of a deep brain stimulation (DBS) procedure, direct electrophysiological recordings from thalamic and basal ganglia circuits were obtained from a pediatric participant with secondary dystonia to examine the neural mechanisms of motor timing. The participant performed a two-phase repetitive timing task that began with synchronization to a series of externally presented auditory cues, followed by a continuation phase in which the participant maintained the movement rhythm without external guidance. Simultaneous recordings from stereoelectroencephalography (sEEG) leads implanted in the globus pallidus internus (GPi), subthalamic nucleus (STN), ventral oralis (Vo), centromedian nucleus (CM), and thalamic nuclei receiving projections from the cerebellum (ventral intermediate nucleus (VIM) and centrolateral nucleus (CL)) revealed behaviorally relevant neural dynamics. Local field potentials (LFPs) from recorded nuclei exhibited strong, time-locked responses during the synchronization phase, with reduced amplitudes during the continuation phase. Time-frequency analysis showed consistent power increases around the corresponding mean of the inter-response intervals (IRIs) in both behavioral output and neural signals, suggesting frequency-specific entrainment across circuits. These findings suggest of cerebellar-thalamic and basal ganglia contributions to temporal coordination.]]></description>
      </item><item>
        <guid isPermaLink="true">https://www.frontierspartnerships.org/articles/10.3389/dyst.2025.15271</guid>
        <link>https://www.frontierspartnerships.org/articles/10.3389/dyst.2025.15271</link>
        <title><![CDATA[Is thalamic deep brain stimulation the right target to improve laryngeal dystonia symptoms?]]></title>
        <pubdate>2025-09-30T00:00:00Z</pubdate>
        <category>Opinion</category>
        <author>Lena C. O’Flynn</author><author>Michael T. Barbe</author><author>Shiro Horisawa</author><author>Julie M. Barkmeier-Kraemer</author><author>Andrew Blitzer</author><author>Jeremy D. W. Greenlee</author><author>Farid Hamzei-Sichani</author><author>Paolo Moretti</author><author>Srikantan S. Nagarajan</author><author>Nutan Sharma</author><author>Shervin Rahimpour</author><author>Jan Rusz</author><author>Elina Tripoliti</author><author>Giovanni Battistella</author><author>Kristina Simonyan</author>
        <description></description>
      </item><item>
        <guid isPermaLink="true">https://www.frontierspartnerships.org/articles/10.3389/dyst.2025.14533</guid>
        <link>https://www.frontierspartnerships.org/articles/10.3389/dyst.2025.14533</link>
        <title><![CDATA[Motor priming induces changes in resting state dynamics in cerebellum of writer’s cramp dystonia: insights for clinical therapies]]></title>
        <pubdate>2025-09-10T00:00:00Z</pubdate>
        <category>Original Research</category>
        <author>Patrick J. Mulcahey</author><author>Michael Fei</author><author>James T. Voyvodic</author><author>Michael W. Lutz</author><author>Noreen Bukhari-Parlakturk</author>
        <description><![CDATA[BackgroundWriter’s cramp (WC) is an adult-onset focal dystonia that impairs hand and arm movements during writing tasks. Previous studies have identified abnormal resting state connectivity between the basal ganglia and cerebellum in WC. However, the role of brain state in modulating these dynamics remains poorly understood, limiting advances in clinical therapies.ObjectiveThis study investigated how a motor priming paradigm affects resting state dynamics in functional networks implicated in WC dystonia.MethodsFourteen WC participants and 20 HV underwent functional MRI (fMRI) during two resting brain states: naïve rest and rest following a motor priming paradigm (non-naïve rest). Group Independent Component Analysis was applied to isolate independent spatial components called functional networks (FNs) known to play a role in dystonia including the cerebellar, basal ganglia, sensorimotor, and superior parietal networks. The default mode network served as a control. To compare resting state brain dynamics between WC and HV, amplitude of low frequency fluctuations (ALFF) were extracted for each FN and resting state. Frequency- and state-dependent differences in ALFF were statistically assessed using general linear modeling.ResultsAt 0.02 Hz, ALFF differences in the cerebellar network were influenced by both group identity and rest condition, with WC exhibiting decreased values during non-naïve rest, opposite to the pattern observed in HV. In contrast, at 0.10 Hz, WC showed increased ALFF values in the superior parietal network compared with HV, and this difference was independent of the motor priming paradigm.ConclusionBrain state significantly influences resting state dynamics in WC dystonia, with the cerebellar and superior parietal networks exhibiting distinct state- and frequency-dependent engagement. These findings highlight the importance of integrating motor priming paradigms with neuromodulation therapies to selectively engage key brain networks implicated in WC dystonia and potentially improve therapeutic outcomes.]]></description>
      </item><item>
        <guid isPermaLink="true">https://www.frontierspartnerships.org/articles/10.3389/dyst.2025.14695</guid>
        <link>https://www.frontierspartnerships.org/articles/10.3389/dyst.2025.14695</link>
        <title><![CDATA[Neurorehabilitation in dystonia care: key questions of who benefits, what modalities, and when to intervene]]></title>
        <pubdate>2025-08-22T00:00:00Z</pubdate>
        <category>Review</category>
        <author>Hikaru Kamo</author><author>Koichi Nagaki</author><author>Alison R. Kraus</author><author>Lisa Warren</author><author>Aparna Wagle Shukla</author>
        <description><![CDATA[Dystonia causes involuntary, patterned movements and posturing, often leading to disability, pain, and reduced quality-of-life. Despite standard treatments such as botulinum toxin (BoNT) injections, oral medications, and deep brain stimulation therapy, many patients continue to experience persistent symptoms. There is growing evidence supporting the use of rehabilitation-based therapies in the management of certain forms of dystonia. This review summarizes the current body of evidence, which primarily focuses on cervical dystonia (CD) and task-specific dystonia (TSD). The greatest therapeutic potential appears to lie in using these interventions as adjuncts to BoNT therapy. In CD, physical therapy has shown effectiveness when aimed at reducing overactivity in the affected neck muscles through techniques such as stretching, massage, and biofeedback. Concurrently, strengthening the opposing muscle groups helps promote improved posture, reduce pain, and enhance range of motion. In TSD, many studies applied splinting of unaffected body parts (sensory-motor retuning) to encourage adaptive retraining of affected body parts (principles of constraint-induced movement therapy), or alternatively restricting movements of affected body parts to promote sensory reorganization. Although there is high risk of bias, neuroplasticity-based strategies like motor and sensorimotor training appear to be promising for TSD. Use of kinesiotaping, vibrotactile stimulation, TENS, and orthotics can help modify movement patterns, while biofeedback can reinforce and sustain motor control improvements. Emerging evidence for functional dystonia supports the role of multimodal approach, combining PT with cognitive behavioral therapy or mind-body strategies. The focus is movement retraining to shift attention away from abnormal movements and restore confidence in normal movement to improve outcomes. Regardless of dystonia type, individualized therapy plans are essential. Home-based exercises play a critical role in maintaining the gains achieved during supervised sessions, supporting ongoing progress, and preventing regression.]]></description>
      </item><item>
        <guid isPermaLink="true">https://www.frontierspartnerships.org/articles/10.3389/dyst.2025.15034</guid>
        <link>https://www.frontierspartnerships.org/articles/10.3389/dyst.2025.15034</link>
        <title><![CDATA[Behavioral signature of trihexyphenidyl in the TOR1A (DYT1) knockin mouse model of dystonia]]></title>
        <pubdate>2025-08-15T00:00:00Z</pubdate>
        <category>Original Research</category>
        <author>Ahmad Abdal Qader</author><author>Yuping Donsante</author><author>Jeffrey E. Markowitz</author><author>H. A. Jinnah</author><author>Chethan Pandarinath</author><author>Ellen J. Hess</author>
        <description><![CDATA[Dystonia is a neurological disorder characterized by involuntary repetitive movements and abnormal postures. Animal models have played a pivotal role in studying the pathophysiology of dystonia. However, many genetic models, e.g., the Tor1a+/ΔE (DYT1) mouse, lack an overt motor phenotype, despite significant underlying neuronal abnormalities within the striatum and other motor control regions. Because the striatum is implicated in action sequencing, it is possible that the behavioral defect arises as a disruption in the frequency and temporal ordering of behaviors, rather than execution, which cannot be captured using traditional behavioral assays, thus limiting drug discovery efforts. To address this challenge, we used MoSeq, an unsupervised behavioral segmentation framework, to compare the continuous free behavior of control Tor1a+/+ mice and knockin Tor1a+/ΔE mutant mice in response to the anti-dystonia drug trihexyphenidyl. Although minimal baseline differences in behavioral organization were detected, both genotypes exhibited robust and consistent shifts in behavioral space structure after treatment with trihexyphenidyl. Further, we demonstrate differences in the behavioral space structure of male vs. female mice after trihexyphenidyl challenge. The distinct behavioral signatures evoked by trihexyphenidyl and biological sex, a known risk factor for dystonia, suggest that the analysis of the temporal structure of continuous free behavior provides a sensitive and novel approach to the discovery of therapeutics for the treatment of dystonia.]]></description>
      </item><item>
        <guid isPermaLink="true">https://www.frontierspartnerships.org/articles/10.3389/dyst.2025.14547</guid>
        <link>https://www.frontierspartnerships.org/articles/10.3389/dyst.2025.14547</link>
        <title><![CDATA[A narrative review: clinical trials in therapeutic interventions for dystonia (2020 - 2025)]]></title>
        <pubdate>2025-08-13T00:00:00Z</pubdate>
        <category>Review</category>
        <author>Ann Ly</author><author>Afreen Mushtaheed</author><author>Monica E. Soliman</author><author>Barbara Karp</author><author>Hyun Joo Cho</author>
        <description><![CDATA[Dystonia is a disabling movement disorder affecting millions of people. Approach to managing this disorder in clinical practice include oral and intrathecal medication therapy, botulinum toxin injections, deep brain stimulation, rehabilitative regimens, or a combination of these. This paper is a comprehensive narrative journal review of the most recent clinical trials that were published or completed in the past 5 years or are ongoing (January 2020 to January 2025). The focus of this review it to discuss various treatment modalities and their respective outcome measure. The clinical trials described in this paper and their recent advancements are laying the foundation for future treatment trials.]]></description>
      </item><item>
        <guid isPermaLink="true">https://www.frontierspartnerships.org/articles/10.3389/dyst.2025.14485</guid>
        <link>https://www.frontierspartnerships.org/articles/10.3389/dyst.2025.14485</link>
        <title><![CDATA[Challenges in deep brain stimulation for DYT-11: a single center troubleshooting experience]]></title>
        <pubdate>2025-07-14T00:00:00Z</pubdate>
        <category>Brief Research Report</category>
        <author>Matthew Aaron Remz</author><author>Vedant Garg</author><author>Kara A. Johnson</author><author>Ka Loong Kelvin Au</author><author>Abbas Babajani-Feremi</author><author>Venkat Srikar Lavu</author><author>Coralie de Hemptinne</author><author>Joshua K. Wong</author>
        <description><![CDATA[IntroductionDYT-11 is a form of myoclonus dystonia (MD) characterized by involuntary muscle jerks and abnormal postures attributable to a variant in the epsilon sarcoglycan (SGCE) gene. Treatment with pallidal deep brain stimulation (GPi-DBS) is effective, but prior studies have highlighted brisk and facile responses to stimulation. While medically refractory cases are common, the literature lacks cases refractory to initial surgical therapy and there are no reports of advanced programming or DBS revision surgery. Our series aims to provide insight into the advanced management of these patients.MethodsPatients treated for genetically confirmed DYT-11 with DBS were identified. Retrospective chart review was performed.ResultsWe report two cases of DYT-11 sub-optimally responsive to DBS that were successfully treated with DBS revision surgery. Lead revision and subsequent programming provided a significant improvement in symptoms. We also report a case of a patient with DYT-11 who was successfully treated with DBS but required advanced programming to achieve best benefit.DiscussionWe present three cases of DYT-11 that required advanced care to achieve successful treatment with DBS. These approaches have not previously been published in DYT-11 and highlight heterogeneity of response in this disorder. Further studies are needed to investigate optimal strategies for DBS troubleshooting in DYT-11 such as characterizing electrophysiology and brain connectomics.]]></description>
      </item><item>
        <guid isPermaLink="true">https://www.frontierspartnerships.org/articles/10.3389/dyst.2025.14652</guid>
        <link>https://www.frontierspartnerships.org/articles/10.3389/dyst.2025.14652</link>
        <title><![CDATA[Pain localization and response to botulinum toxin in cervical dystonia]]></title>
        <pubdate>2025-07-10T00:00:00Z</pubdate>
        <category>Original Research</category>
        <author>Alexander S. Wang</author><author>Hanieh Agharazi</author><author>Aetan Parmar</author><author>Camilla W. Kilbane</author><author>Lauren Cameron</author><author>Aasef G. Shaikh</author><author>Steven A. Gunzler</author>
        <description><![CDATA[IntroductionPain is a common symptom of cervical dystonia (CD). The mainstay of treatment of CD is botulinum toxin, which is known to have benefits in relieving pain. We aimed to characterize the locations of pain in patients with CD, and to assess what factors may predict pain reduction following botulinum toxin injection.MethodsWe conducted a single-center observational study of CD patients who reported pain and who received botulinum toxin treatment. On the day of their toxin injection (in the untreated state), they filled out a survey evaluating primary and secondary sites of pain as indicated on a diagram, as well as Pain Numeric Rating Scale assessing average pain over the past 24 h. Two weeks later, they filled out a follow-up survey (in the treated state) to evaluate whether location and pain intensity changed.Results55 people with CD participated in the study, and 40 of them completed both surveys. Most patients reported pain localization over the posterior musculature, especially in the areas overlying superior trapezius and levator scapulae. 21 of 40 (52.5%) patients reported improvement of pain intensity by ≥ 30% in the primary site of pain. The mean improvement in pain intensity was 30.4% (SD = 32.4%), with a mean improvement on Numeric Rating Scale of 2.13 (SD = 2.02). 68% of patients received injections into or close to their primary site of pain. Using univariate linear regression, there was no clear effect of age, sex, muscles injected, or TWSTRS motor subscale on the degree of pain improvement. The locations of pain remained relatively stable in the post-treatment state.ConclusionWe confirmed that botulinum toxin is effective for treatment of pain related to CD. We also gained insight into the typical locations of pain in CD by generating a heat map, showing pain most often in the regions of upper trapezius, levator scapulae, and splenius cervicus and capitis. Although there was not a significant correlation between the site of botulinum toxin injection and pain improvement, larger studies are needed to better determine optimal treatment strategies.]]></description>
      </item><item>
        <guid isPermaLink="true">https://www.frontierspartnerships.org/articles/10.3389/dyst.2025.14545</guid>
        <link>https://www.frontierspartnerships.org/articles/10.3389/dyst.2025.14545</link>
        <title><![CDATA[Treating non-motor symptoms in dystonia: a systematic review]]></title>
        <pubdate>2025-06-30T00:00:00Z</pubdate>
        <category>Review</category>
        <author>Dana Sugar</author><author>Sarah Pirio Richardson</author>
        <description><![CDATA[IntroductionDystonia is characterized by dysfunctional movements and postures and current treatments aim to reduce unwanted muscle activity. Dystonia also encompasses non-motor symptoms which are becoming increasingly recognized as important contributors to quality of life. Less attention has been paid to treating these non-motor symptoms. This systematic review was undertaken to describe what is known regarding non-motor symptom treatment in dystonia.MethodsA systematic review was undertaken of the published literature from 2019 to 2025. Studies on dystonia that included description of non-motor symptoms and changes after treatment were included.Results408 records were identified for review with 89 meeting inclusion and exclusion criteria for full review. 22 reports and 10 additional studies from review of references were included in the review. Treatments were stratified by type of treatment (e.g., surgical, non-invasive neurostimulation, and botulinum toxin injection) as well as by type of dystonia (e.g., generalized vs. focal vs. segmental). Response of non-motor symptoms to surgical treatment were mixed. Ablative therapy showed some improvements in non-motor symptoms but with the inherent risks of ablative procedures. Botulinum toxin consistently improved mood and pain across multiple dystonia populations.ConclusionThis review summarizes the current state of treatment effects of non-motor symptoms in dystonia. In most cases, the treatments were primarily aimed at motor symptoms but changes were sometimes seen in non-motor symptoms as well. Better detection and treatment of non-motor symptoms in dystonia are needed to wholly treat patients with dystonia.]]></description>
      </item><item>
        <guid isPermaLink="true">https://www.frontierspartnerships.org/articles/10.3389/dyst.2025.14692</guid>
        <link>https://www.frontierspartnerships.org/articles/10.3389/dyst.2025.14692</link>
        <title><![CDATA[The role of the cerebellum in dystonia]]></title>
        <pubdate>2025-06-27T00:00:00Z</pubdate>
        <category>Review</category>
        <author>Alexander S. Wang</author><author>Ibrahim M. Alkhodair</author><author>Camilla W. Kilbane</author>
        <description><![CDATA[Dystonia is a neurologic disorder characterized by abnormal muscle contractions and postures, which is vastly heterogeneous in its etiologies and clinical manifestations. The role of the basal ganglia in the pathogenesis of dystonia is well known, however, there has been a recent surge of evidence implicating the malfunction of a wide network, including a prominent role of the cerebellum. In this review article, we explore the role of the cerebellum in generating dystonia through multiple lines of basic science and clinical evidence. Neurophysiological, radiological, and pathological findings in various dystonia syndromes implicate an important role of the cerebellum. Dystonia additionally accompanies many known ataxic cerebellar disorders such as spinocerebellar ataxia. Genetic and pharmacologic mouse models of dystonia have demonstrated various degrees of cerebellar pathophysiology. There is emerging evidence supporting cerebellar neuromodulation in the treatment of dystonia. Lastly, we describe cerebellar, cortical, and subcortical motor connections which provide a connectomic basis where the cerebellum may play either a primary or ancillary role in generating dystonia.]]></description>
      </item><item>
        <guid isPermaLink="true">https://www.frontierspartnerships.org/articles/10.3389/dyst.2025.14344</guid>
        <link>https://www.frontierspartnerships.org/articles/10.3389/dyst.2025.14344</link>
        <title><![CDATA[Functional connectivity of brain areas related to social cognition and anxiety in cervical dystonia]]></title>
        <pubdate>2025-06-02T00:00:00Z</pubdate>
        <category>Brief Research Report</category>
        <author>Veronica Guadagni</author><author>Ford Burles</author><author>Brandy L. Callahan</author><author>Giuseppe Iaria</author><author>Davide Martino</author>
        <description><![CDATA[IntroductionRecent studies highlighted the importance of non-motor symptoms, including emotional processing dysfunction, in individuals with cervical dystonia (CD). The resting state functional connectivity of areas involved in emotional processing, and the modulatory role of social anxiety on this connectivity, remain unexplored in CD. We hypothesized that CD patients would have altered functional connectivity between limbic areas involved in emotional processing as compared to healthy subjects and examined how variations in social anxiety affect connectivity.Methods14 CD patients and 26 age- and sex-matched healthy controls completed a series of questionnaires and underwent functional magnetic resonance imaging (fMRI). Resting state functional connectivity was investigated between seeds (amygdala and insula) and whole brain ROIs, and in conventional functional networks. The modulatory role of social anxiety was investigated.ResultsCD patients showed reduced intra-regional connectivity in the insula, reduced connectivity between the right insula, left parietal operculum and left central opercular cortex. CD patients also showed clear reductions in connectivity in the salience, dorsal attention and sensorimotor resting state networks, as well as modest inter-network connections between language and fronto-parietal networks. In CD patients, higher anxiety scores and performance on affect naming tasks were associated with lower connectivity between right and left insula and between right insula and left central opercular cortex.ConclusionThis study demonstrates that the previously observed deficits in emotional processing in CD patients may be underpinned by reduction in resting state functional connectivity in limbic areas and salience network with anxiety and social perception as a modulating factor.]]></description>
      </item><item>
        <guid isPermaLink="true">https://www.frontierspartnerships.org/articles/10.3389/dyst.2025.14589</guid>
        <link>https://www.frontierspartnerships.org/articles/10.3389/dyst.2025.14589</link>
        <title><![CDATA[Editorial: Dystonia and tremor]]></title>
        <pubdate>2025-05-21T00:00:00Z</pubdate>
        <category>Special Issue Editorial</category>
        <author>Pattamon Panyakaew</author><author>Aparna Wagle Shukla</author>
        <description></description>
      </item><item>
        <guid isPermaLink="true">https://www.frontierspartnerships.org/articles/10.3389/dyst.2025.13923</guid>
        <link>https://www.frontierspartnerships.org/articles/10.3389/dyst.2025.13923</link>
        <title><![CDATA[Efficacy and safety of valbenazine in the treatment of cervical dystonia: a pilot study]]></title>
        <pubdate>2025-05-19T00:00:00Z</pubdate>
        <category>Original Research</category>
        <author>Salma Aziz</author><author>Erin Pellot</author><author>Laxman Bahroo</author><author>Abhishek Wajpe</author><author>Martin T. Taylor</author>
        <description><![CDATA[BackgroundVesicular monoamine transporter-2 inhibitors have provided on-label success in the treatment of tardive dyskinesia (TD) and Huntington’s disease chorea (HDC). A similar pathophysiological pathway for cervical dystonia suggests valbenazine (VBZ) could be beneficial in this condition.ObjectiveTo determine the efficacy of VBZ in reducing symptoms of pain and posturing and improving quality of life in subjects with cervical dystonia.MethodsThis was an open-label, prospective study of subjects with a clinical diagnosis of cervical dystonia currently being treated with botulinum neurotoxin (BoNT) for >6 months. Valbenazine was titrated to 80 mg per day with no change in BoNT dosage or muscle location. Evaluations were performed 4 weeks prior to the subject’s scheduled BoNT treatment date BoNTmax/-VBZ (time 1) compared to 4 weeks prior to the subject’s next BoNT treatment date BoNTmax/+VBZ (time 4). TheBoNT injection treatment date BoNTmin/VBZ dispensing (time 2) and the next BoNT injection treatment date BoNTmin/+VBZ (time 5) were compared. Efficacy was assessed using the Toronto Western Spasmodic Torticollis Rating Scale (TWSTR), Neck Pain Disability Index (NPDI). Visual analog scale (VAS, 0–10) for pain/pulling/jerking, Pittsburgh Sleep Quality Index (PSQI), Clinical Global Impression of Change (CGIC) and Patient Global Impression of Change (PGIC) Scales.ResultsFourteen subjects were enrolled and followed for a total of 16 weeks. TWSTRS Total Score was significantly improved at time 4 compared to time 1 (p = 0.02), as well as VAS 0–10 scores for 24 Hour (p = 0.001), Past Week Pull (p = 0.0001), and Past Week Jerk (p = 0.04). TWSTRS Total Score was significantly improved at time 5 compared to time 2 (p = 0.02) as well as 24 Hour Pull (p = 0.01), 24 Hour Jerk (p = 0.04), Past Week Pull (p = 0.002), and Past Week Jerk (p = 0.02). Subjective improvement was reported at times 3, 4 and 5 on CGIC and PGIC Scales. No significant improvements were seen in the PSQI and NPDI. The medication was tolerated well with fatigue as the most common adverse effect.ConclusionThis exploratory study demonstrates a potential benefit in the addition of VBZ for the treatment of cervical dystonia associated with severe pain and posturing.]]></description>
      </item><item>
        <guid isPermaLink="true">https://www.frontierspartnerships.org/articles/10.3389/dyst.2025.14415</guid>
        <link>https://www.frontierspartnerships.org/articles/10.3389/dyst.2025.14415</link>
        <title><![CDATA[Sex-specific alterations of Purkinje cell firing in Sgce knockout mice and correlations with myoclonus]]></title>
        <pubdate>2025-03-18T00:00:00Z</pubdate>
        <category>Brief Research Report</category>
        <author>Hong Xing</author><author>Pallavi Girdhar</author><author>Fumiaki Yokoi</author><author>Yuqing Li</author>
        <description><![CDATA[Myoclonus is a hyperkinetic movement disorder characterized by sudden, brief, involuntary jerks of single or multiple muscles. Dystonia is a movement disorder characterized by sustained or intermittent muscle contractions causing abnormal, often repetitive, movements, postures, or both. Myoclonus-dystonia (M-D) or DYT11 dystonia is an early-onset genetic disorder characterized by subcortical myoclonus and less pronounced dystonia. DYT11 dystonia is the primary genetic M-D caused by loss of function mutations in SGCE, which codes for ε-sarcoglycan. Sgce knockout (KO) mice model DYT11 dystonia and exhibit myoclonus, motor deficits, and psychiatric-like behaviors. Neuroimaging studies show abnormal cerebellar activity in DYT11 dystonia patients. Acute small hairpin RNA (shRNA) knockdown of Sgce mRNA in the adult cerebellum leads to motor deficits, myoclonic-like jerky movements, and altered Purkinje cell firing. Whether Sgce KO mice show similar abnormal Purkinje cell firing as the acute shRNA knockdown mice is unknown. We used acute cerebellar slice recording in Sgce KO mice to address this issue. The Purkinje cells from Sgce KO mice showed spontaneous and intrinsic excitability changes compared to the wild-type (WT) mice. Intrinsic membrane properties were not altered. The female Sgce KO mice had more profound alterations in Purkinje cell firing than males, which may correspond to the early onset of the symptoms in female human patients and more pronounced myoclonus in female KO mice. Our results suggest that the abnormal Purkinje cell firing in the Sgce KO mice contributes to the manifestation of the myoclonus and other motor symptoms in DYT11 dystonia patients.]]></description>
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