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Aim Method Results Interpretation To investigate the natural progression of SGCE‐associated myoclonus dystonia from symptom onset in childhood to early adulthood.Myoclonus and dystonia were monitored using rating scales in two cohorts of participants from Spain and the Netherlands. Individual annualized rates of change were calculated and longitudinal trends were assessed using Bayesian mixed models. Psychiatric features were evaluated cross‐sectionally in the Spanish cohort.Thirty‐eight patients (21 males, 17 females) were evaluated at a mean age (SD) of 10 years (4 years 7 months; range 2–21 years) and 14 years 2 months (4 years 8 months; range 4–25 years). We observed a significant worsening of action myoclonus, global dystonia, and dystonia during writing (mean annual increases of 1.356, 0.226, and 0.518 in the Unified Myoclonus, Burke–Fahn–Marsden, and Writer's Cramp Rating Scales respectively). Accordingly, participants perceived a significant worsening in their speech, writing, and walking abilities. Twenty‐six of 32 participants suffered from anxiety (n = 13), obsessive‐compulsive disorder (n = 9), and attention‐deficit/hyperactivity disorder (n = 8).This study demonstrates that, unlike in the adult population, myoclonus dystonia syndrome in childhood and adolescence follows a progressive course that can be debilitating in the early stages of life. These findings, along with a high prevalence of psychiatric symptoms, highlight the need for early therapeutic interventions to prevent long‐term motor and psychological sequelae. [ABSTRACT FROM AUTHOR]

Oromandibular dystonia (OMD) is a focal dystonia characterized by contractions of the masticatory, lingual, and other muscles of the stomatognathic system. We conducted a systematic review and meta-analysis to elucidate the impact and safety of botulinum toxin in OMD. The eligibility criteria were full-length original articles that provided data evaluating the efficacy and adverse effects of onabotulinumtoxinA injections in patients with OMD. PubMed and Embase were searched for articles published before 31 May 2023. We analyzed cases that showed a favorable response (>0% improvement), moderate or greater response (>50% improvement), and adverse effects. A fixed-model meta-analysis of 26 studies involving 1103 patients revealed that an overall favorable effect of onabotulinumtoxinA injection was observed in 96.2% (95% confidence interval [CI], 95–97.5%, p < 0.00001) of patients, with significant heterogeneity (p < 0.00001, I2 = 85%). A moderate response (>50% improvement) was observed in 88.9% of patients (95% CI, 87–90.8%, p < 0.00001) with significant heterogeneity (p < 0.00001, I2 = 85%). Adverse effects were detected in 17.8% of patients, and the most common event was dysphagia (10.1%). Our systematic review found that onabotulinumtoxinA injection was effective, with a low rate of side effects. Further randomized controlled trials are required to clarify the evidence-based efficacy and adverse effects. [ABSTRACT FROM AUTHOR]

Background: The Powassan virus is a rare neurotropic, tick‐borne arbovirus associated with meningoencephalitis. Despite the virus's known predilection for the basal ganglia, there are no reports detailing the spectrum of movement disorders in children with Powassan meningoencephalitis. Cases: We present 3 cases of pediatric Powassan encephalitis, highlighting the diverse and evolving movement disorders associated with this disease. We observed subcortical myoclonus and progressive generalized dystonia (patient 1), transient dyskinesias and refractory focal dystonia (patient 2), and generalized dystonia evolving into chorea and lingual dyskinesias (patient 3). One patient exhibited multifocal vasculitis on magnetic resonance imaging angiography, a novel finding. Conclusions: Movement disorders were a primary source of the morbidity experienced by pediatric Powassan encephalitis patients throughout their disease course, underscoring the importance of regular monitoring and adaptable treatment strategies in this condition. Larger, prospective studies are necessary to fully delineate the spectrum of associated movement disorders in this rare and severe disease. [ABSTRACT FROM AUTHOR]

• Focal hand dystonia (FHD) usually occurs in the over-learned stage. • To know long-term motor learning characteristics and underlying pathophysiological features possibly predisposing to dystonia. • FHD have motor learning capacity comparable to healthy volunteers and do not show pathophysiological abnormalities. Because focal hand dystonia usually occurs in the over-learned stage, it would be valuable to know long-term motor learning characteristics and underlying pathophysiological features that might predispose to dystonia. We conducted a case-control exploratory study of 15 visits over 12 weeks in the non-affected hand of a 4-finger sequence of 8 key presses in eight patients with FHD compared with eight age- and sex-matched, healthy volunteers (HVs). We studied the behavioral data and the physiological changes of the brain, including motor cortical excitability and cortical oscillations. There was no significant difference in the time to reach 100 % accuracy between FHD and HV during the 80-day follow-up period. There was a statistically significant difference in the accuracy of sequential finger movement tasks between patients with FHD compared with HVs over 12 weeks, but post-hoc analysis with multiple comparion correction did not show difference. There were no significant differences in recruitment curve changes and task-related power changes of alpha and beta bands. Over 12 weeks, FHD have motor learning capacity comparable to HVs and do not show pathophysiological abnormalities. Further studies would be valuable with more patients, more extended periods of practice, and more detailed electrophysiological explorations. [ABSTRACT FROM AUTHOR]

Objective Methods Results Interpretation To examine the efficacy and safety of sodium oxybate versus placebo in a phase IIb randomized double‐blind placebo‐controlled 2‐period cross‐over clinical trial in patients with isolated laryngeal dystonia (LD).The study was conducted from January 2018 to December 2021, pausing during the COVID‐19 pandemic, at Massachusetts Eye and Ear in 106 patients with alcohol‐responsive (EtOH+) and alcohol‐non‐responsive (EtOH−) LD (53 to receive 1.5g of sodium oxybate first, 53 to receive matching placebo first). The primary outcome was a change from baseline in LD symptom severity 40 minutes after drug intake. Safety was based on vital signs, cognitive function, suicidality, daytime sleepiness, and adverse events. Patients, investigators, and outcome assessors were masked to study procedures.Compared to baseline, EtOH+ but not EtOH− patients had a statistically significant improvement in LD symptoms following sodium oxybate versus placebo (EtOH+: 98.75% confidence interval [CI] = 0.6–26.9; p = 0.008; EtOH−: 98.75% CI = −6.2 to 18.7; p = 0.42). Statistically significant minimum drug efficacy in EtOH+ patients was found at ≥16% symptom improvement (OR = 2.09; 98.75% CI = 0.75–5.80; p = 0.036), with an average of 40.81% benefits (98.75% CI = 34.7–48.6). Drug efficacy waned by 300 minutes after intake without a rebound. No changes were found in cognitive function, suicidality, or vital signs. Common adverse events included mild dizziness, nausea, and daytime sleepiness.Sodium oxybate showed clinically meaningful improvement of symptoms in EtOH+ LD patients, with acceptable tolerability. Sodium oxybate offers the first pathophysiologically relevant oral treatment for laryngeal dystonia. ANN NEUROL 2024 [ABSTRACT FROM AUTHOR]

Objective: Tremor is a frequent co-occurring feature in patients with dystonia, especially in focal and segmental dystonia. Clinical studies have shown that tremor is more commonly observed when dystonia spreads to contiguous body regions. However, there is insufficient characterization of tremor physiology in focal and segmental forms of dystonia. We aimed to ascertain the characteristics of tremor presenting in these specific subtypes. Methods: We enrolled dystonia patients with head and arm tremors presenting to our center. We categorized these participants as focal and segmental dystonia following the Movement Disorders Society guidelines. We recorded the frequency, amplitude, rhythmicity, burst duration, and discharge pattern on accelerometer and electromyography recordings. We compared the physiology of tremors in focal vs. segmental dystonia. We determined whether the physiology was affected by clinical features such as demographics, age at onset, dystonia duration, alcohol responsiveness, family history, and botulinum toxin responsiveness. Results: 72 patients, mainly focal cervical dystonia and focal cervical + arm or cranial dystonia (segmental) were enrolled. In the analysis of the head tremor recordings (n = 66; frequency range 3-6.5 Hz), we found that focal vs. segmental dystonia comparisons revealed a significantly lower frequency (mean ± standard deviation; 4.0 ± 0.9 Hz vs. 4.7 ± 1.0 Hz; p = 0.02), lower amplitude (0.004 ± 0.008 g2/Hz vs. 0.006 ± 0.008 g2/Hz; p = 0.03) and longer muscle burst durations (111.1 ± 40.4 ms vs. 91.5 ± 24 ms; p = 0.04). In the analysis of arm tremor recordings (n = 31; frequency range 3.5-7 Hz), we found focal vs. segmental dystonia comparison revealed a lower amplitude (0.04 ± 0.07 g2/Hz vs. 0.06 ± 0.06 g2/Hz; p = 0.045). In the stepwise regression analysis, the age at evaluation (ß - 0.44; p = 0.006) and age at onset (ß - 0.61; p = 0.005) significantly predicted the head tremor frequency whereas the alcohol responsiveness tended to predict the amplitude of the head tremor (ß - 0.5; p = 0.04) and the arm tremor (ß - 0.6; p = 0.02). Conclusion: Our study found that the physiological characteristics of tremor in focal and segmental dystonia are somewhat distinct, suggesting that the spread of dystonia symptoms from one body region to another may have a bearing on the physiology of co-occurring tremor. The frequency of head tremors in younger participants was observed to be higher compared to older participants. The head and arm tremor tended be less severe in patients reporting alcohol responsiveness. [ABSTRACT FROM AUTHOR]

This article discusses the natural history of dystonia in patients with SYNE1 ataxia, a late-onset autosomal recessive cerebellar syndrome. The study focuses on a Brazilian cohort of seven patients who were evaluated over a five-year period. The researchers found that dystonia in SYNE1 ataxia is rare but can manifest as focal hand dystonia or upper extremity dystonia. The article provides detailed clinical and demographic features of the patients and discusses the progression of dystonia symptoms over time. Additionally, the article explores the relationship between the use of trihexyphenidyl and muscle activity in patients with ATX-SYNE1, a form of autosomal recessive cerebellar ataxia. It presents neuroimaging results, neurophysiological findings, blood work, and genetic tests related to the condition. The article suggests that cerebellar abnormalities may contribute to the development of dystonic symptoms in ATX-SYNE1 patients and concludes that dystonia should be considered as part of the multisystemic phenotype of ATX-SYNE1. [Extracted from the article]

Introduction: To establish clinical trial readiness for dystonia, a crucial step is to develop a Patient-Centered Outcome (PCO) measure to capture therapeutic response in focal dystonia such as in cervical dystonia (CD). Botulinum neurotoxin (BoNT) is the gold standard treatment for focal dystonia and yields improvement; yet the therapy may not meet all patient expectations as there is a high rate of discontinuation. A PCO that can measure therapeutic response, including the waxing and waning benefit of BoNT, across multiple domains and is easy to use on a frequent basis in the home environment is critical. Methods: A modified iterative Delphi process based on FDA (Food and Drug Administration) guidelines was used to develop and select items to document patient symptoms and response to treatment. Potential items then were improved using patient focus groups, validated for content with specialist panels, and confirmed items based on a patient survey. Using data from 200 CD patients in the Dystonia Coalition Natural History Database, initial PCO items were identified. Utilizing Random Forests, prospective items were analyzed for their contribution to the overall severity scores on the clinical and patient-centered outcome scales. Items that were repetitive were merged. Iterative meetings with a specialist panel consisting of neurologists, physical therapists, and Patient Advocacy Group (PAG) representatives as well as virtual focus groups of CD patients were held. An online survey was conducted with over 600 CD patients participating. Finally, specialist panel members provided input for a content validity ratio (CVR) with iterations until there was good agreement as to the relevance and clarity of the items. Results: PCO measures tailored for CD were successfully developed. The PCO consists of 16 items covering three domains (motor, disability, and psychosocial) and reflects the input of international specialist panels, more than 800 CD patients, and PAGs (patient advocacy groups) following FDA guidance. The PCO is simple enough to be used in an app-based format compatible with smartphones and tablets. Conclusion: This comprehensive CD PCO measure was developed through the combination of using robust existing patient centered data (from previous Dystonia Coalition Projects); active engagement with PAGs to provide the patient voice; and use of virtual focus groups and online surveys. This PCO will be used in a prospective study to characterize the therapeutic response to BoNT over time. This will provide peak effect size as well as capturing the "yoyo" effect during BoNT treatment; and will prepare for a future trials. [ABSTRACT FROM AUTHOR]

Objective: Blepharospasm (BSP), focal dystonia with the highest risk of spread, lacks clear understanding of early spreading risk factors and objective prognostic indicators. We aimed to identify these risk factors through clinical and electrophysiological assessments, and to establish a predictive model for dystonic spread in BSP. Methods: We prospectively followed BSP patients for 4 years, collecting data on dystonic spread, and conducting electrophysiological evaluations. The blink reflex, masseter inhibitory reflex, and trigeminal somatosensory evoked potential were assessed. Univariable and multivariable Cox proportional hazard regression models were used to assess clinical characteristics associated with BSP dystonic spread. A predictive model was constructed using a nomogram, and performance of the model was evaluated using the area under the receiver operating characteristic curve. Results: A total of 136 enrolled participants (mean age 56.34 years) completed a 4‐year follow‐up. Among them, 62 patients (45.6%) showed spread to other body regions. Multivariable Cox regression analysis showed that a high Hamilton Anxiety Scale score (hazard ratio 1.19, 95% confidence interval 1.13–1.25, p < 0.001), prolonged trigeminal somatosensory evoked potential mandibular branch P1‐N2 peak interval (hazard ratio 1.11, 95% confidence interval 1.02–1.21, p = 0.017), and elevated trigeminal somatosensory evoked potential mandibular branch P1‐N2 peak amplitude (hazard ratio 1.26, 95% confidence interval 1.12–1.41, p < 0.001) were independent risk factors for BSP dystonic spread within 4 years. Combining these factors, the predictive models demonstrated excellent discriminative ability, with the receiver operating characteristic curve score being 0.797, 0.790, 0.847, and 0.820 at 1, 2, 3 and 4 years after enrollment, respectively. Interpretation: We established a predictive model with significant value for anticipating dystonic spread in BSP, offering crucial evidence. These findings contribute essential insights into the early clinical identification of the development and evolution of BSP diseases. ANN NEUROL 2024;96:747–757 [ABSTRACT FROM AUTHOR]

Background/Objectives: Cervical dystonia (CD) is a condition characterized by involuntary activity of cervical muscles, which is often accompanied by various non-motor symptoms. Recent studies indicate impaired saccadic eye movements in CD. Local administration of botulinum toxin type A (BoNT/A), which causes temporary paralysis of the injected muscle, is the first-line treatment of focal dystonia, including CD. To our knowledge, concurrent observation of the effect of BoNT/A on smooth eye movements, voluntary saccades, memory-guided saccades, and antisaccades in CD has not yet been explored. The aim of this study was to assess the effect of BoNT/A on eye movements and non-motor symptoms in patients with CD, which, when altered, could imply a central effect of BoNT/A. Methods: Thirty patients with CD performed smooth pursuit, prosaccadic expression, memory-guided saccades, and antisaccade tasks; eye movements were recorded by an eye tracker. Motor and non-motor symptoms, including depression, anxiety, pain, disability, and cognitive changes prior to and after BoNT/A administration, were also evaluated. Results: The number of correct onward counts (p < 0.001), overall correct memory-guided saccades count (p = 0.005), motor symptoms (p = 0.001), and non-motor symptoms, i.e., anxiety (p = 0.04), depression (p = 0.02), and cognition (p < 0.001) markedly improved after BoNT/A administration. Conclusions: Memory-guided saccades, depression, and anxiety improve after BoNT/A in CD. [ABSTRACT FROM AUTHOR]

Laryngeal dystonia (LD) is an isolated, task‐specific, focal dystonia characterized by intermittent spasms of laryngeal muscles impairing speech production. Although recent studies have demonstrated neural alterations in LD, the consistency of findings across studies is not well‐established, limiting their translational applicability. We conducted a systematic literature search to identify studies reporting stereotactic coordinates of peak structural and functional abnormalities in LD patients compared to healthy controls, followed by a coordinate‐based activation likelihood estimation meta‐analysis. A total of 21 functional and structural neuroimaging studies, including 31 experiments in 521 LD patients and 448 healthy controls, met the study inclusion criteria. The multimodal meta‐analysis of these studies identified abnormalities in the bilateral primary motor cortices, the left inferior parietal lobule and striatum, the right insula, and the supplementary motor area in LD patients compared to healthy controls. The meta‐analytical findings reinforce the current view of dystonia as a neural network disorder and consolidate evidence for future investigations probing these targets with new therapies. [ABSTRACT FROM AUTHOR]

Background: Pain is a common non-motor symptom in patients with cervical dystonia (CD), severely impacting their quality of life. The pathophysiology of CD is incompletely understood but it involves altered processing of proprioceptive and pain signals. Objectives: The purpose of this proof-of-concept study was to determine if vibro-tactile stimulation (VTS)—a non-invasive form of neuromodulation targeting the somatosensory system—can modulate neck pain in people with CD. Methods: In a multi-center study, 44 CD patients received VTS to sternocleidomastoid and/or trapezius muscles for up to 45 min under 9 different stimulation conditions that either targeted a single or a pair of muscles. The primary outcome measure was a perceived pain score (PPS) rated by participants on a 100-point analogue scale. Results: During VTS, 29/44 (66%) of participants experienced a reduction in PPS of at least 10% with 17/44 (39%) reporting a reduction in pain of 50% or higher. After VTS cessation, 57% of participants still reported a 10% or higher reduction in PPS. Effects were significant at the group level and persisted for up to 20 min post-treatment. No distinct optimal stimulation profiles were identified for specific CD phenotypes. Clinical markers of disease severity or duration did not predict the degree of VTS-induced pain reduction. Conclusion: This proof-of-concept study demonstrates the potential of VTS as a new non-invasive therapeutic option for treating neck pain associated with CD. Further research needs to delineate optimal dosage and long-term effects. [ABSTRACT FROM AUTHOR]

Musician's focal dystonia (mFD) is a rare, neurological, task-specific disorder that mainly affects the upper extremity (especially the hands) and generally appears as a painless muscular incoordination that can mark the end of a musician's professional career. The present literature review intends to highlight the current understanding of musician's focal dystonia, its underlying neural mechanisms and the role of prevention and treatment in physiotherapy, psychotherapy and other fields as occupational therapy. The aim of the present literature review was to gain an overview of mFD in the medical, psychological and physical therapy literature and investigate what strategies for diagnosis and rehabilitation are available today. The present article is a literature review, based on the search for full-text publications with the goal of comparing the main strategies for mFD rehabilitation and prevention presented in the literature. This literature review compared many relevant papers and studies available in literature today for mFD epidemiology, neural mechanisms, treatment and prevention, to discuss what we know today and highlight the aspects that can still be enhanced in the future. According to our results, current literature gives a good understanding of mFD epidemiology, but further studies are needed to fully comprehend the neurological aspects and develop more rehabilitation strategies, especially in the psychological field. Our research also highlighted the need for a multidisciplinary approach that considers both physical and psychological aspects. Physical rehabilitation strategies are helpful but, considering the amount of psychological aspects involved in mFD, a holistic approach should be considered and developed in the future. Finally, prevention must have a primary role in mFD treatment, raising awareness around it and, possibly, avoiding its development. • Musician's focal dystonia is a rare, neurological, task-specific disorder. • Focal dystonia occurs in 2%–10% of professional musicians. • Some risk factors can be: genetic predisposition, previous injuries, perfectionism. • Until now, focal dystonia treatments are focused only on the physical aspects. • We hypothesize that prevention is crucial and a multidisciplinary approach is needed. [ABSTRACT FROM AUTHOR]

Botulinum toxin A (BTX-A) is frequently used for spasticity, focal dystonia, hemifacial spasm, hyperhidrosis, strabismus, chronic migraine and cosmetic purposes. Therapeutic use is generally safe. It is important to consider the risk of iatrogenic botulism, especially in high dose approved or with unapproved formulations and indications. Five patients with iatrogenic botulism were described. All patient developed systemic symtomps of Botulism following botulinum toxin injection for various reason. Clinical presentatiton, treatment and outcome were explained in this report. Conclusion: Based on the case series reported, we would like to emphasize the important of adhering to recommended dose of approved formulations approved or unapproved indication of BTX-A. [ABSTRACT FROM AUTHOR]

Background: Retrospective studies suggest that spinal movement disorders, especially tonic spasms, are prevalent in NMOSD. However, there have been no prospective studies evaluating spinal movement disorders in NMOSD, MOGAD, and idiopathic transverse myelitis (ITM). Methods: Patients referred to a tertiary neuroimmunology clinic for spinal cord demyelination (excluding MS) were evaluated. All patients answered a movement disorders survey and underwent a movement disorder-focused exam. Movement disorders were compared among patients with NMOSD with and without AQP4-IgG, MOGAD, and ITM. Patients with and without involuntary movements were also compared to identify predictors of spinal movement disorders. Results: Sixty-three patients were evaluated from 2017 to 2021 (71% females, median age 49 years, range 18–72 years, median disease duration 12 months, range 1–408). Of the total, 49% had ITM, 21% had NMOSD without AQP4-IgG, 19% had NMOSD with AQP4-IgG, and 11% had MOGAD. Movement disorders were present in 73% of the total patients and were most frequent in NMOSD with AQP4-IgG (92%) and least frequent in MOGAD (57%). The most frequent spinal movement disorders were tonic spasms (57%), focal dystonia (25%), spinal tremor (16%), spontaneous clonus (9.5%), secondary restless limb syndrome (9.5%), and spinal myoclonus (8%). Multivariate analysis showed that longitudinally extensive myelitis and AQP4-IgG are independent risk factors for the development of spinal movement disorders, while MOG-IgG and African American race were associated with a lower risk of developing these movement disorders. Conclusions: Spinal movement disorders are highly prevalent in non-MS demyelinating disorders of the spinal cord. Prevalence rates exceed those reported in MS and retrospective NMOSD studies. [ABSTRACT FROM AUTHOR]

Task-specific focal dystonia (TSFD), characterized by the loss of fine motor control and coordination, affects drummers' lower-limb movements. This study explores lower-limb dystonia's impact on drumming performance and underlying muscle activity in a professional rock drummer. The drummer executed an eight-beat pattern on a drum kit. The participant reported the occurrence of symptoms when he felt the abnormality such as the loss of control related to involuntary aspects of movement. We measured the peak amplitude of the bass drumhead vibration, synchronization errors as the time elapsed between the metronome onset and the bass drum onset, and amplitude of electromyographic (EMG) recordings centered on metronome beat. Dystonia symptoms primarily manifested in the initial beat, with fewer symptoms on syncopation of the third beat. Analysis revealed decreased bass-drum peak amplitude and earlier synchronization error during the initial beat. EMG measurements of 10 muscles in the affected right lower limb showed significant changes in the Biceps Femoris (BF), Tibialis Anterior (TA), Extensor Digitorum Longus (EDL), and Extensor Digitorum Brevis (EDB) muscles during symptom onset. We observed (1) earlier overactivation of the TA and EDL muscles during the leg lift-up motion or preparatory phase of pedaling, (2) reduced activation of the EDB muscle, and (3) increased activation of the BF muscle during the final pedaling movement when symptoms occurred. These findings suggest that lower-limb dystonia symptoms are characterized by a reduction in amplitude of the bass drumhead vibration and an increase in synchronization error, potentially due to premature overactivation of the ankle dorsiflexor muscles. [ABSTRACT FROM AUTHOR]

Purpose: Laryngeal dystonia (LD) is a focal dystonia affecting laryngeal musculature with no known etiology or cure. The present study evaluated the sociodemographic and clinical features of patients diagnosed with LD. Materials and Methods: All patients diagnosed with LD at our University Hospital's Ear, Nose, and Throat Department between January 2017 and July 2023 were retrospectively analyzed. The study included 43 patients. Results: Out of the 43 patients, 19 (44%) were male. At the time of diagnosis, the mean age of the patients was 35.1 years (ranging from 17 to 65 years). The mean elapsed time between the first symptom onset and the first diagnosis was 49.2 months (min. 4 months, max. 240 months). Of the participants, 94% had adductor-type LD. None of the patients had a family history of LD. Of the patients, 9 (20%) experienced a life-altering event or trauma just before the onset of symptoms. All patients who consumed alcohol reported symptom relief with alcohol intake. A total of 67.6% of patients stated that their symptoms were triggered by stress. All of our patients received at least one Botulinum toxin injection, with an average of 2.75 dosages per patient. Conclusion: The gender distribution was approximately equitable between males and females. There was a tendency for men to receive a diagnosis earlier than women following the manifestation of symptoms. A significant number of patients associate the emergence of their symptoms with a stressful event or traumatic experience. This study represents the initial investigation into the sociodemographic characteristics of patients within the Turkish population. [ABSTRACT FROM AUTHOR]

Background: Prior studies have indicated that female individuals outnumber male individuals for certain types of dystonia. Few studies have addressed factors impacting these sex differences or their potential biological mechanisms. Objectives: To evaluate factors underlying sex differences in the dystonias and explore potential mechanisms for these differences. Methods: Data from individuals with various types of dystonia were analyzed in relation to sex. Data came from two different sources. One source was the Dystonia Coalition database, which contains predominantly idiopathic adult‐onset focal and segmental dystonias. The second source was the MDSGene database, which contains predominantly early‐onset monogenic dystonias. Results: The 3222 individuals from the Dystonia Coalition included 71% female participants and 29% male participants for an overall female‐to‐male ratio (F:M) of 2.4. This ratio varied according to body region affected and whether dystonia was task‐specific. The female predominance was age‐dependent. Sex did not have a significant impact on co‐existing tremor, geste antagoniste, depression or anxiety. In the 1377 individuals from the MDSGene database, female participants outnumbered male participants for some genes (GNAL, GCH1, and ANO3) but not for other genes (THAP1, TH, and TOR1A). Conclusions: These results are in keeping with prior studies that have indicated female individuals outnumber male individuals for both adult‐onset idiopathic and early onset monogenic dystonias. These results extend prior observations by revealing that sex ratios depend on the type of dystonia, age, and underlying genetics. [ABSTRACT FROM AUTHOR]

Dystonia is a movement disorder in which sustained muscle contractions give rise to abnormal postures or involuntary movements. It is a disabling and disfiguring disorder that affects activities of daily living and gives people a bizarre appearance often associated with psychological morbidity, embarrassment and social avoidance. Intramuscular injection of botulinum toxin (BoNT) is the most effective treatment for motor symptoms in focal dystonia, but little is known about its impact on the psycho-social dimension. The main aim of this study was to evaluate psycho-social changes in patients with focal dystonia after starting BoNT treatment using self-reported scales. The Beck Depression Inventory (BDI-II), the 36-Item Short Form Health Survey (SF-36), the Body Uneasiness Test (BUT), the State-Trait Anxiety Inventory (STAI) and the Visual Analogue Scale (VAS) assessing body self-image, satisfaction with physical aspects, social avoidance, self-reported depression, and self-distress were completed by 11 patients with dystonia and 9 patients with hyperhidrosis as a control group before BoNT (T0). VAS was then performed after four weeks (T1) to assess whether BoNT induced changes in the psychosocial dimension. Our results showed that only depressive symptoms and rumination about body defects improved in patients with dystonia after BoNT treatment, while improvement in self-distress and satisfaction with physical aspects was also found in hyperhidrosis. Individuals with hyperhidrosis experience poorer psychological well-being and suffer from higher levels of distress compared to dystonic patients. This suggests that individuals with this disabling condition are more vulnerable to social impact than dystonic patients. [ABSTRACT FROM AUTHOR]

Cervical dystonia (CD) causes involuntary movements and postures of the head, neck, and shoulders, as well as nonmotor symptoms including pain, mood, and sleep dysfunction, and impacts quality of life. The first-line treatment for CD is botulinum neurotoxin (BoNT) injections. The clinical presentation and diagnosis of CD, as well as where BoNT resides in the treatment landscape, is reviewed first. Next, the mechanism of action and the pharmacological differences in the available preparations of BoNT products are explained. The evidence base for motor and nonmotor efficacy and safety of the available BoNT formulations is reviewed, with attention to duration of benefit as a driver of patient satisfaction. Practical determinants of BoNT efficacy are reviewed including muscle selection, accurate muscle injection, factors related to poor or deteriorating response, and immunogenicity. BoNT represents a significant advancement in the treatment of CD. More accurate diagnosis, muscle selection and targeting, and dosing can improve outcomes with existing BoNT formulations. Further refinement of BoNT potency, duration of action, safety, and immunogenicity will help reduce unmet needs in the magnitude and duration of benefit. Additional validation of DBS and MRI-guided focused ultrasound may expand options for patients with toxin nonresponse. [ABSTRACT FROM AUTHOR]

The article discusses a case study of a 54-year-old man with fragile X-associated tremor/ataxia syndrome (FXTAS) presenting with dystonic tremor as the core clinical feature. The patient's medical history, family history, neurological examination, diagnostic tests, and treatment options are detailed. The study highlights the variability of the FXTAS phenotype and emphasizes the importance of brain imaging in the differential diagnosis of dystonic tremor. The authors suggest that further research is needed to confirm their observations and understand the underlying mechanisms. [Extracted from the article]

The article "The 'Writing on the Wall Maneuver' Reveals the Dystonic Nature of Primary Writing Tremor" discusses the concept of primary writing tremor (PWT) and its classification as either task-induced or positionally sensitive tremor. The authors observed that performing the "writing on the wall maneuver" improved tremor in PWT patients, suggesting a dystonic nature to the condition. The study highlights the need for further research to understand the relationship between PWT, dystonia, and essential tremor. [Extracted from the article]

The article discusses a case study of a 37-year-old male with a VPS-16 gene mutation, leading to limb dystonia and voice tremors. The patient's symptoms included abnormal voice, neck posturing, and writer's cramp, with a family history of dystonia. Genetic testing revealed a pathogenic mutation in the VPS-16 gene, resulting in premature truncation of the protein. Treatment with medication showed some improvement in symptoms. The study expands the understanding of VPS-16 mutations, highlighting the emergence of voice tremors as a symptom in addition to known manifestations of dystonia. [Extracted from the article]

The article discusses the successful treatment of golfer's dystonia, also known as golfer's yips, through ventro-oral thalamotomy. The case study involves a 53-year-old male golfer who experienced left-hand stiffness while putting and swinging, which significantly impacted his golf performance. After undergoing two surgeries, the patient showed significant improvement in motor control and precision during golf play, with his golf score improving from 112 to 80. The study suggests that ventro-oral thalamotomy could be a potential alternative treatment option for focal hand dystonia in golfers. [Extracted from the article]

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Dystonia is a motor disorder that causes involuntary contractions of muscles through repeated movements. Wind and string players are particularly vulnerable to this disease, with orofacial and dominant upper limb involvement. Its origin is multifactorial, with ergonom-ic, psychosocial and organizational risks standing out as occupational risks. The Spanish legislation does not include musician's dystonia in the list of occupational diseases. The determination of contingency is complex in order to establish the principles of causality and temporality required by the Mutual Social Security Collaborators and by the National Institute of Social Security. The process frequently ends up in the Courts of Justice. Scientific evidence and jurisprudential doctrine provide documentary support that facilitates decision-making and opens the door to the future incorporation of musicians' dystonia into the list of occupational diseases in our country. [ABSTRACT FROM AUTHOR]

Objectives: The adult‐onset focal dystonias are characterized by over‐active muscles leading to abnormal movements. For most cases, the etiology and pathogenesis remain unknown. In the current study, unbiased proteomics methods were used to identify potential changes in blood plasma proteins. Methods: A large‐scale unbiased proteomics screen was used to compare proteins (N = 6,345) in blood plasma of normal healthy controls (N = 49) with adult‐onset focal dystonia (N = 143) consisting of specific subpopulations of cervical dystonia (N = 45), laryngeal dystonia (N = 49), and blepharospasm (N = 49). Pathway analyses were conducted to identify relevant biological pathways. Finally, protein changes were used to build a prediction model for dystonia. Results: After correction for multiple comparisons, 15 proteins were associated with adult‐onset focal dystonia. Subgroup analyses revealed some proteins were shared across the dystonia subgroups while others were unique to 1 subgroup. The top biological pathways involved changes in the immune system, metal ion transport, and reactive oxygen species. A 4‐protein model showed high accuracy in discriminating control individuals from dystonia cases [average area under the curve (AUC) = 0.89]. Interpretation: These studies provide novel insights into the etiopathogenesis of dystonia, as well as novel potential biomarkers. ANN NEUROL 2024;96:110–120 [ABSTRACT FROM AUTHOR]

Introduction: Dystonia can present in primary and secondary forms, depending on co-occurring symptoms and syndromic associations. In contrast to primary dystonia, secondary forms of dystonia are often associated with lesions in the putamen or globus pallidus. Such disorders are commonly neurodegenerative or neurometabolic conditions which produce varied neurologic as well as systemic manifestations other than dystonia. Chemo-denervation with botulinum toxin has been successfully used for focal or segmental dystonia. However, studies evaluating the effect of BoNT therapy on patients with secondary dystonia are sparse, given the heterogeneity in etiology and presentation. Methods: We present a series of patients with secondary dystonia who were managed with botulinum toxin therapy. Patients included in this series had a confirmed neurometabolic cause of dystonia. Results: A total of 14 patients, with ages ranging from 17 to 36 years, with disorders including Wilson's disease, pantothenate kinase-associated neurodegeneration (PKAN), Niemann–Pick disease type C (NPC), glutaric aciduria type 1, Sanfilippo syndrome (Mucopolysaccharidosis Type IIIb), and GM2 gangliosidosis (Sandhoff disease) are presented. Most patients experienced a mild to moderate improvement in treated dystonia with benefits ranging from 6 to 12 weeks, with the median length of the benefits lasting approximately eight weeks, without any significant adverse effects. Conclusion: Although the secondary causes of dystonia are complex and diverse, our presented data and the available reports of the use of botulinum toxin support the conclusion that chemo-denervation plays an important role in symptom alleviation. [ABSTRACT FROM AUTHOR]

This article, published in the Journal of Neurology, examines the relationship between dystonia and mitochondrial disease in 900 genetically diagnosed patients. Dystonia is a movement disorder characterized by excessive muscle contractions, and it often occurs alongside other movement disorders or neurological signs. The study analyzes two large groups of patients with dystonia and suspected mitochondrial disease to determine the frequency of mitochondrial gene defects and the prevalence of dystonia as a clinical feature. The study identifies 57 nuclear-encoded mitochondrial disease genes associated with dystonia, with the greatest overlap found in genes related to neurodegeneration with brain iron accumulation. The findings have implications for clinical practice and further research into the causes of dystonia. [Extracted from the article]

L-2-Hydroxyglutaric aciduria (L-2-HGA) is a rare disorder. The patients have psychomotor retardation, ataxia, macrocephaly, and epilepsy usually in childhood. We present a case of L-2-HGA who developed dystonia in the third decade of life. The family reported symptoms of progressive psychomotor regression since childhood. On assessment, the patient had mild impairment of higher mental functions, mild exotropia, and right-hand dystonia. Brain MRI revealed diffuse bilateral symmetrical subcortical white matter hyperintense signals. 2-Hydroxyglutaric acid in urine was elevated and the whole genome sequencing revealed a homogeneous pathogenic variant of the L-2-hydroxyglutarate dehydrogenase (L2HGDH) gene. The prognosis was explained to the caregivers. Patients with mild phenotype L-2-HGA can remain undiagnosed until adulthood. Cases of dystonia even without complaints of epilepsy should be investigated by MRI -brain, urine test and genetic testing to rule out L-2-HGA. [ABSTRACT FROM AUTHOR]

Background: Laryngeal dystonia is a task-specific focal dystonia of laryngeal muscles that impairs speech and voice production. At present, there is no cure for LD. The most common therapeutic option for patients with LD involves Botulinum neurotoxin injections. Objective: Provide empirical evidence that non-invasive vibro-tactile stimulation (VTS) of the skin over the voice box can provide symptom relief to those affected by LD. Methods: Single-group 11-week randomized controlled trial with a crossover between two dosages (20 min of VTS once or 3 times per week) self-administered in-home in two 4-week blocks. Acute effects of VTS on voice and speech were assessed in-lab at weeks 1, 6 and 11. Participants were randomized to receive either 40 Hz or 100 Hz VTS. Main outcome measures: Primary: smoothed cepstral peak prominence (CPPS) of the voice signal to quantify voice and speech abnormalities, and perceived speech effort (PSE) ranked by participants as a measure of voice effort (scale 1-10). Secondary: number of voice breaks during continuous speech, the Consensus Auditory-Perceptual Evaluation of Voice (CAPE-V) inventory as a measure of overall disease severity and the Voice Handicap Index 30-item self report. Results: Thirty-nine people with a confirmed diagnosis of adductor-type LD (mean [SD] age, 60.3 [11.3] years; 18 women and 21 men) completed the study. A single application of VTS improved voice quality (median CPPS increase: 0.41 dB, 95% CI [0.20, 0.61]) and/or reduced voice effort (PSE) by at least 30% in up to 57% of participants across the three study visits. Effects lasted from less than 30 min to several days. There was no effect of dosage and no evidence that the acute therapeutic effects of VTS increased or decreased longitudinally over the 11-week study period. Both 100 and 40 Hz VTS induced measurable improvements in voice quality and speech effort. VTS induced an additional benefit to those receiving Botulinum toxin. Participants, not receiving Botulinum treatment also responded to VTS. Conclusion: This study provides the first systematic empirical evidence that the prolonged use of laryngeal VTS can induce repeatable acute improvements in voice quality and reductions of voice effort in LD. Clinical trial registration: ClinicalTrials.gov ID: NCT03746509. [ABSTRACT FROM AUTHOR]

Children with developmental and epileptic encephalopathies often present with co‐occurring dyskinesias. Pathogenic variants in ARX cause a pleomorphic syndrome that includes infantile epilepsy with a variety of movement disorders ranging from focal hand dystonia to generalized dystonia with frequent status dystonicus. In this report, we present three patients with severe movement disorders as part of ARX‐associated epilepsy‐dyskinesia syndrome, including a patient with a novel pathogenic missense variant (p.R371G). These cases illustrate diagnostic and management challenges of ARX‐related disorder and shed light on broader challenges concerning epilepsy‐dyskinesia syndromes. [ABSTRACT FROM AUTHOR]

Background: Musician's Dystonia (MD) is a task specific, focal dystonia which usually occurs only at the instrument. The pathophysiology is not fully understood, but several risk factors like over‐practice and genetic predisposition are known. Interestingly, 80% of those affected are men, which stands in contrast to the gender distribution in other focal dystonias, such as cervical dystonia. Objectives: Our aim was to evaluate the difference in women and men with regard to risk factors leading to MD. Methods: We investigated known risk factors for MD in a large cohort of 364 MD patients by retrospectively collecting data on practice behavior and family history. Results: In line with previous studies, we found a ratio of ~4:1 men to women. Age at onset of MD was significantly lower in women; however, subsequent analysis revealed that it was a positive family history (FH+) and not gender that was associated with a lower age at onset. Furthermore, we found that those with negative family history had accumulated more practice time until onset of MD. Conclusions: These results imply that the earlier age at onset in women did not depend on gender but was due to the higher proportion of a positive family history. In contrast, men were less likely to have a positive family history, suggesting that genetic factors may not be the primary reason for the higher prevalence of MD in men. Instead, differences in practice behaviors between men and women may contribute to this gender disparity. [ABSTRACT FROM AUTHOR]

Objective: To provide a comprehensive overview of rehabilitation treatment strategies for focal hand dystonia (FHD) in musicians, examining their evolution and effectiveness. Data Sources: A systematic search of five databases, PubMed, PEDro, Cochrane Library, Trip, and Google Scholar, to identify relevant articles on FHD rehabilitation. The last search was performed on 20 December 2023. Methods: Inclusion criteria were applied to 190 initially identified articles, resulting in 17 articles for review. Exclusions were made for duplicates, irrelevant titles, abstracts, and non-rehabilitation interventions. Results: Ten different rehabilitation approaches were identified over 20 years. While no definitive intervention protocol exists, a multimodal approach is commonly recommended. Conclusions: This scoping review underscores the diversity of rehabilitation strategies for FHD. It suggests the potential of multimodal approaches, emphasizing the need for further large-scale clinical efficacy studies. [ABSTRACT FROM AUTHOR]

OBJECTIVE: To determine the effect of inhibitory repetitive transcranial magnetic stimulation (rTMS) delivered to the left inferior parietal lobule (IPL) on the severity of task-specific focal hand dystonia. METHODS: In this randomized, sham-controlled, double-blind crossover study, participants received single sessions of low-frequency (1 Hz) inhibitory rTMS (1200 pulses) and sham stimulation to the left IPL. At baseline and after each session, we assessed the Writer's Cramp Rating Scale (WCRS), kinematic analysis using an electrogoniometer, a torsiometer, and the patient-reported improvement on a Likert scale. RESULTS: We recruited 16 right-handed patients with task-specific focal hand dystonia [age: 33.3 ± 11.7 years, 13 male). The mean WCRS score at baseline was 5.8 ± 3.4 in group A (where first 1 Hz rTMS and then sham was applied) and 13.4 ± 5.2 in group B (where first sham and then 1 Hz rTMS were applied). An inhibitory rTMS protocol applied to the left IPL resulted in a statistically significant improvement in the WCRS total score [WCRS difference real minus sham mean (SD): −1 (1.3), (95% confidence interval (CI): −2, −1), p = 0.002] and writing movement score [WMS mean difference (SD): −1 (1.4), CI: (−2, 0), p = 0.005], irrespective of the sequence in which they received the intervention. Secondary outcomes were similar between the groups. CONCLUSION: In patients with task-specific focal hand dystonia, a single session of rTMS to the left IPL resulted in a modest reduction of focal hand dystonia severity. The results serve as a proof-of-concept for future studies to assess the clinical effects of multiple sessions of left IPL inhibition to modulate the abnormally hyperexcitable premotor–parietal–putaminal circuitry in task-specific focal hand dystonia. [ABSTRACT FROM AUTHOR]

Chewing dystonia, a variant of focal task-specific dystonia, is a rarely reported condition that causes remarkable decrement in quality-of-life, social embarrassment, and associated mental stress. In this article, we present two case studies that extend previous observations, which indicate a putative association between khat (Catha edulis) consumption and chewing dystonia. While pharmacological treatments such as botulinum toxin injections may be an option, a substantial proportion of affected individuals do not achieve optimal outcomes. If preventable, a medical condition ought to be prevented. The observations presented in the two case studies discussed indicate that khat consumption may be a modifiable risk factor for chewing dystonia.

The article discusses a case study of a 32-year-old White man with a rare genetic disorder involving the SLC6A1 gene, leading to combined dystonia and neurodevelopmental issues. The patient experienced epilepsy, movement disorders, and behavioral problems, with symptoms starting in childhood. Genetic testing revealed a de novo missense variant in the SLC6A1 gene, suggesting a causative role in the patient's condition. The study highlights the importance of genetic testing in diagnosing rare disorders and the potential for personalized treatment approaches based on genetic findings. [Extracted from the article]

This article discusses the widening of the phenotype of Fragile-X tremor ataxia syndrome (FXTAS) in females, specifically focusing on two patients who experienced spasmodic dysphonia (SD). FXTAS is a neurodegenerative disorder caused by a premutation in the FMR1 gene. While FXTAS is more common in males, females can also be affected, and their symptoms can vary widely. The article suggests that FXTAS should be considered in females who present with vocal tremors or SD, as these symptoms may occur before the development of tremor or ataxia. [Extracted from the article]

This article discusses musician's dystonia and proposes novel treatment strategies. The authors emphasize the importance of early and precise diagnosis and advocate for a comprehensive approach to treatment that considers the neurobiological and psychosocial aspects of the condition. They suggest interventions targeting the sensorimotor system, as well as interventions addressing memory consolidation, identity integration, and emotion regulation. The article also highlights the potential benefits of personalized physiotherapy and psychotherapy. The text discusses a therapeutic approach called EMDR+ R that incorporates music and bilateral sound stimulation to address task-specific focal dystonia in musicians. It also discusses the use of personalized neuromodulation techniques to alleviate sensorimotor integration deficits. The proposed multidimensional therapeutic strategy includes personalized psychotherapy, sensory-motor retuning, and neuromodulation, with the option for remote treatment. The text acknowledges the need for further research and clinical trials to evaluate the effectiveness of these approaches. This document is a list of references for various scientific articles related to the treatment and understanding of focal hand dystonia in musicians. The articles cover topics such as the effectiveness of behavioral treatment, the role of somatosensory cortical organization, the impact of stress on motor performance, and the use of neuromodulation techniques. [Extracted from the article]

Introduction: Dystonia is a movement disorder characterized by sustained or intermittent muscle contractions. Cervical dystonia (CD) is the most common focal dystonia. There are several instruments assessing the symptoms of CD. However, different scales assess different features which may lead to poor patient evaluation. Aim: The aim of the study was to evaluate the degree of overlap of most often used CD rating scales identified by the literature review. Methods: A thorough search of the Medline database was conducted in September 2021. Then the frequency of each scale was calculated, and 7 most common scales were included in the content overlap analysis using Jaccard index (0 – no overlap, 1 – full overlap). Results: Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS), Tsui score, Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS), Cervical Dystonia Impact Profile 58 (CDIP-58), Craniocervical Dystonia Questionnaire 24 (CDQ-24), Cervical Dystonia Severity Rating Scale (CDSS), Cervical Dystonia Severity Rating Scale (DDS) and The Dystonia Non-Motor Symptoms Questionnaire (DNMSQuest) were the most common scales. 91 CD symptoms were distinguished from 134 items used in the scales. The mean overlap among all scales was 0.17. 52 (62%) symptoms were examined by more than one scale. The CIDP-58 captured the highest number of symptoms (63.0%), while the CDSS captured the lowest number (8.0%). None of the symptoms were examined by seven instruments. Conclusions: There was a very weak overlap among scales. High inconsistency between the scales may lead to highly different dystonia severity assessment in clinical practice. Thus, the instruments should be combined. [ABSTRACT FROM AUTHOR]

A neurological condition called dystonia results in abnormal, uncontrollable postures or movements because of sporadic or continuous muscular spasms. Several varieties of dystonia can impact people of all ages, leading to severe impairment and a decreased standard of living. The discovery of genes causing variations of single or mixed dystonia has improved our understanding of the disease's etiology. Genetic dystonias are linked to several genes, including pathogenic variations of VPS16, TOR1A, THAP1, GNAL, and ANO3. Diagnosis of dystonia is primarily based on clinical symptoms, which can be challenging due to overlapping symptoms with other neurological conditions, such as Parkinson's disease. This review aims to summarize recent advances in the genetic origins and management of focal dystonia. [ABSTRACT FROM AUTHOR]

• We used simultaneous EEG and fNIRS to examine task-specific changes during finger-tapping and handwriting tasks in dystonia. • Patients with dystonia show altered connectivity between the supplementary motor area and left sensorimotor cortex during writing. • Differences in cortical blood flow and EEG spectral power between controls and patients with dystonia are task dependent. The aim of this study was to explore differences in brain activity and connectivity using simultaneous electroencephalography and near-infrared spectroscopy in patients with focal dystonia during handwriting and finger-tapping tasks. Patients with idiopathic right upper limb focal dystonia and controls were assessed by simultaneous near-infrared spectroscopy and electroencephalography during the writing and finger-tapping tasks in terms of the mu-alpha, mu-beta, beta and low gamma power and effective connectivity, as well as relative changes in oxyhemoglobin (oxy-Hb) and deoxyhemoglobin using a channel-wise approach with a mixed-effect model. Patients exhibited higher oxy-Hb levels in the right and left motor cortex and supplementary motor area during writing, but lower oxy-Hb levels in the left sensorimotor and bilateral somatosensory area during finger-tapping compared to controls. During writing, patients showed increased low gamma power in the bilateral sensorimotor cortex and less mu-beta and beta attenuation compared to controls. Additionally, patients had reduced connectivity between the supplementary motor area and the left sensorimotor cortex during writing. No differences were observed in terms of effective connectivity in either task. Finally, patients failed to attenuate the mu-alpha, mu-beta, and beta rhythms during the finger-tapping task. Cortical blood flow and EEG spectral power differ between controls and dystonia patients, depending on the task. Writing increased blood flow and altered connectivity in dystonia patients, and it also decreased slow-band attenuation. Finger-tapping decreased blood flow and slow-band attenuation. Simultaneous fNIRS and EEG may show relevant information regarding brain dynamics in movement disorders patients in unconstrained environments. [ABSTRACT FROM AUTHOR]

Background: The impact of focal dystonia on gait has attracted little attention and remains elusive. Considering the importance of both visual and head control in gait, blepharospasm and cervical dystonia should affect gait. Improvement of cervical/eyelid control following botulinum toxin (BTX) injections would translate into gait changes. Objectives: To assess gait differences in people with focal dystonia before and after BTX treatment. Methods: Ten patients with blepharospasm, 10 patients with cervical dystonia, and 20 healthy age‐ and gender‐matched controls were included. Gait was assessed before and 1‐month after BTX injections using Biodex Gait Trainer™ 3. Gait velocity, cadence, step length, step asymmetry, and variability of step length were compared between patients and controls, and between the two time‐points using non‐parametric statistics. Results: At baseline, compared to controls, cervical dystonia patients showed reduced gait velocity, step length, and cadence. After BTX injections, while gait velocity and step length were significantly increased and step length variability reduced, gait parameters still differed between patients and controls. In blepharospasm patients, baseline gait velocity and step length were significantly smaller than in controls. After BTX injections, these gait parameters were significantly increased and variability decreased, so that patients no longer differed from controls. Conclusion: Gait differences exist between patients with focal dystonia not directly affecting the lower limbs and healthy controls. These gait abnormalities were improved differently by BTX treatment according to the type of dystonia. These disparities suggest different pathophysiological mechanisms and support the need for changes in rehabilitation routines in cervical dystonia. [ABSTRACT FROM AUTHOR]

Recently, calcitonin gene‐related peptide (CGRP) monoclonal antibodies (mAbs) have become available as a prophylactic treatment for migraine and have shown high efficacy and safety in clinical practice. CGRP mAbs have been reported to be effective not only for migraine but also for other comorbidities, such as psychiatric complications in patients with migraine. However, there are no reports examining the effect of CGRP mAbs on dystonia. We treated a patient with comorbid migraine and focal task‐specific dystonia (writer's cramp) with a CGRP mAb (erenumab) because of an increase in monthly migraine days despite the addition of migraine prophylaxis. In this patient, erenumab treatment for 3 months led to improvements in symptoms of both focal dystonia and migraine, suggesting a role for CGRP in the pathophysiology of both conditions. [ABSTRACT FROM AUTHOR]

Blepharospasm is a focal dystonia characterized by involuntary tetanic contractions of the orbicularis oculi muscle, which can lead to functional blindness and loss of independent living ability in severe cases. It usually occurs in adults, with a higher incidence rate in women than in men. The etiology and pathogenesis of this disease have not been elucidated to date, but it is traditionally believed to be related to the basal ganglia. Studies have also shown that this is related to the decreased activity of inhibitory neurons in the cerebral cortex caused by environmental factors and genetic predisposition. Increasingly, studies have focused on the imbalance in the regulation of neurotransmitters, including dopamine, serotonin, and acetylcholine, in blepharospasm. The onset of the disease is insidious, and the misdiagnosis rate is high based on history and clinicalmanifestations. This article reviews the etiology, epidemiological features, and pathogenesis of blepharospasm, to improve understanding of the disease by neurologists and ophthalmologists. [ABSTRACT FROM AUTHOR]