To investigate ocular surface dysfunction in patients with benign essential blepharospasm (BEB) by evaluating lid wiper epitheliopathy (LWE) and ocular surface parameters and to compare these findings with those of normal and dry eye controls. Additionally, we aimed to assess the impact of botulinum toxin (BTX-A) injection on ocular surface parameters and LWE. This study included BEB patients and age- and sex-matched healthy and dry-eye controls. LWE grading and ocular surface parameters were assessed, including OSDI score, Schirmer's I test, tear break-up time (TBUT), corneal staining, eyelid margin abnormalities, and meibomian gland function. Patients with BEB received BTX-A injections, and measurements were repeated 1, 3, and 6months post-treatment. Compared to control groups, the BEB group exhibited significantly increased OSDI scores, corneal surface staining, eyelid margin abnormalities, meibomian expression, meibography scores, meibomian gland loss, and LWE grades of the upper and lower eyelid (p < 0.05) while TBUT and Schirmer's I test values were significantly decreased (p < 0.05). Significant positive correlations were observed between the severity and frequency of BEB and ocular surface dysfunction, including LWE (p < 0.05). LWE severity was significantly correlated with age, female gender, and ocular surface parameters (p < 0.05). BTX-A injection significantly improved ocular surface parameters for 6months, but LWE reduction was insignificant at 6months (p < 0.05). LWE was identified as a significant contributor to conjunctivocorneal damage in BEB. Furthermore, BTX-A injection effectively treats ocular surface dysfunction, including LWE.

BackgroundThe pathophysiology of primary blepharospasm (BSP) remains incompletely understood. This study aimed to characterize whole-brain functional network topology in treatment-naive BSP patients.MethodsThirty-nine treatment-naive BSP patients and 39 matched healthy controls (HCs) underwent resting-state fMRI. Graph theoretical analysis was applied to assess global and nodal network metrics. Network-Based Statistics (NBS) identified subnetworks with altered functional connectivity (FC). Correlations between network metrics and clinical variables [Jankovic Rating Scale (JRS), illness duration] were explored.ResultsCompared to HCs, BSP patients exhibited significantly lower local efficiency [p = 0.0002, false discovery rate (FDR) corrected], while global efficiency, characteristic path length, clustering coefficient, normalized clustering coefficient, normalized characteristic path length, or small-worldness were preserved (all p > 0.05, FDR corrected). Nodal analysis revealed decreased efficiency/degree in the bilateral thalamus and left supplementary motor area, and increased efficiency/degree in the bilateral precentral gyri, right postcentral gyrus, and left insula (all p < 0.05, FDR corrected). NBS identified subnetworks with altered FC across sensorimotor, limbic-subcortical, frontoparietal, and default mode networks, featuring both hyper- and hypo-connectivity (p < 0.05, NBS-corrected). Notably, left thalamic efficiency negatively correlated with illness duration (r = −0.481, p = 0.0019), and right precentral gyrus efficiency positively correlated with JRS total score (r = 0.395, p = 0.0129).ConclusionBSP is characterized by complex functional network disruptions, including impaired local information processing, altered nodal importance in key motor and relay hubs, and widespread connectivity changes. These findings reinforce BSP as a network disorder. These network alterations may serve as objective markers for disease progression and could guide the development of targeted neuromodulation therapies.

Photophobia and somatosensory disorders in patients with benign essential blepharospasm (BEB) are caused by the accumulation of light input to the brain, resulting in persistent eye-opening difficulties. Consecutive patients with photophobia and photosensitivity due to BEB were recruited. The patients were asked to participate in a trial using high-density glasses, with only 1.5% visible light transmittance, produced by Tokai Optical Co. Ltd. (HD glass®) (Aichi, Japan). Patients were instructed to wear glasses 2-3 times per day for 20 min or more in a dimly lit room every day for at least two months. Patients answered a questionnaire on the effects of wearing glasses whilst wearing them (during), approximately 30 min after removing the glasses (after), and two months after the self-trial (two-month). A total of 61 patients (52 women and 9 men) aged 21-81 (51.5±17.4) years were recruited. Early morning effects were identified in 39 patients (64.0%), and a present or previous history of migraine was reported in 29 patients (47.5%). More than half of the patients eventually reported improvement. The improvement rate was significantly higher at all three time points (during, after, and two months) in the group with early morning effects than in the group without early morning effects. Migraines, which are often associated with photophobia, may be a risk factor for BEB. This trial, using high-density glasses to inhibit light input to the brain, proved beneficial, particularly in patients with BEB and early morning effects, increasing their quality of life after two months. However, controlled trials are needed to validate these findings.

Meige syndrome, a cranio-cervical dystonia with a unique clinical phenotype.

Blepharospasm (BSP) is characterized by excessive orbicularis oculi muscle activity leading to abnormal blinking and involuntary eyelid closure. Botulinum neurotoxin (BoNT) injections are the main treatment for BSP, but they only partially and transiently relieve symptoms, leading to a waxing and waning therapeutic response. A patient-centered outcome (PCO) tool that measures BSP symptoms in a simple and efficient way could inform the development of better treatments. Using a stepwise modified Delphi approach, potential PCO items were first identified using the Dystonia Coalition Database with data from over 200 individuals with BSP who had provided responses to existing clinical assessment scales. These items were then analyzed for contribution to overall severity using a Random Forests approach, and redundant items were merged and revised in a series of iterative meetings with a specialist panel along with input from patient advocacy group representatives and focus groups. An online survey was conducted with 330 individuals with BSP to validate and verify the items’ relevance. Finally, the specialist panel provided content validity ratio, which was repeated until it showed good agreement for relevance and clarity of all items. In the end, an easy-to-use PCO tool designed for smartphones and tablets containing 17 items covering three symptom domains (motor, disability, and psychosocial/quality of life) was created. This novel PCO tool for BSP may be used to characterize the cyclical response that an individual patient experiences from BoNT treatments and provide a vital tool for future investigations of longer-acting BoNT preparations or adjunctive therapies.

ABSTRACT Purpose The purpose of this study is to evaluate the association between the blepharospasm disability index (BSDI) and botulinum neurotoxin (BTX) dosage for patients affected by either benign essential blepharospasm or hemifacial spasm. Methods Cross-sectional cohort study evaluating adult patients diagnosed with benign essential blepharospasm or hemifacial spasm who completed a BSDI evaluation prior to receiving same-day therapeutic BTX injections. Primary outcome measures included BSDI score and number of BTX units. Simple and multivariable linear regression analyses were utilized to assess the relationship between BSDI score and BTX dosage. Results For patients with benign essential blepharospasm, BTX dosage was significantly and positively correlated to BSDI score (R2=0.16, β=1.15, p=0.007). This relationship remained robust when controlling for age, sex, disease duration, interval since previous BTX injection, and injecting provider (β=1.11, p=0.010). No significant correlation was identified between BSDI score and BTX dosage for patients affected by hemifacial spasm (R2=0.05, β=0.39, p=0.379). Conclusions This study demonstrates that BTX dosage is significantly and positively correlated to BSDI score for patients affected by benign essential blepharospasm, but not for those affected by hemifacial spasm. Incorporating BSDI score may support more individualized and efficient clinical management of benign essential blepharospasm.

ABSTRACT One of the central problems in the philosophy of action is to spell out the distinction between action and what merely happens, for example, a wink versus an eye twitch. This essay proposes a theory of action offering an account of this distinction. The central claim of the theory is that action is movement that is controlled by the mover, where movement is understood capaciously and control is characterized by a trio of conditions consisting of an aim condition, a modal condition, and an explanatory condition. Importantly, being controlled is shown to be a determinable property of movements, and its determination dimensions are isolated. Paired with the claim that action is movement that is controlled by the mover, this account of control as a determinable illuminates the diversity within the category of action.

Hemifacial spasm (HFS) and blepharospasm (BS) are movement disorders involving the facial muscles. HFS is linked to facial nerve, nucleus irritation and BS to basal ganglia dysfunction causing hyperexcitability of brainstem interneurons. Cervical vestibular-evoked myogenic potential (cVEMP) responses demonstrate the saccullocollic reflex. This study aimed to evaluate saccullocollic pathways using the cVEMP test in HFS and BS patients with abnormal brainstem activity. Our study was conducted between July 2022 and December 2023 at Movement Disorders Outpatient Clinic of Neurology Department, including 54 HFS and 32 BS patients and 50 healthy volunteers. Peak p13 and n23 latencies, peak-to-peak p13-n23 amplitudes, and amplitude asymmetry ratios (AAR) of the responses recorded from the sternocleidomastoid muscle ipsilateral to the stimulated ear was recorded and the results gathered from the patients were compared with the results of the healthy controls. Results of the affected and unaffected sides of the HFS patients were also compared. There was no significant difference regarding age between patient and control groups. The female gender was higher in the BS group. No statistically significant differences were observed in terms of right and left p13 and n23 latencies and p13-n23 amplitude parameters in comparison of the patient groups and healthy controls. Comparison of the affected and unaffected sides of the HFS patients did not reveal a significant difference. This study found no evidence of saccullocollic involvement in HFS and BS patients using the cVEMP test. It is important as a guiding study for future research.

Hemifacial spasm (HFS) and blepharospasm (BSP) are two neurological disorders characterized by involuntary contractions in the eye and face area. These two diagnostic groups' neurocognitive and social cognition performances are not adequately understood regarding behavioral neurology. This study compared HFS and BSP groups with healthy controls (HCs) regarding neurocognition and social cognition performances. Twenty people from each group with equal distribution in terms of age, education level, and gender were included in the study. All participants were administered neuropsychological tests measuring attention, memory, working memory, visual-spatial skills, and theory of mind skills. The analyses determined that the neurocognition scores of the HFS and BSP groups were lower than those of the HCs, but there was no significant difference between them. A significant difference was found between the HFS and BSP groups regarding social cognition scores. Consistent with the literature, both clinical groups showed differences in the control group's neurocognitive and social-cognitive test performances. Unexpectedly, it was found that individuals with HFS and BSP, who progress through different pathophysiological mechanisms, exhibited similar neurocognitive scores, but their social cognition scores diverged. This finding suggests that the two disorders exhibit overlapping impairments in some neural circuits while differing in others. Future studies should focus on social cognition skills to better understand the etiology of these two disorders and distinguish the clinically confounding conditions.

Brain functional reorganization in primary blepharospasm (BSP) remains incompletely understood. This study aimed to add to the increasing knowledge by examining abnormalities in local spontaneous neural activity in this disorder. Resting-state functional magnetic resonance imaging data were acquired from 32 medication-naïve patients with BSP and 32 age- and sex-matched healthy controls in this study. The imaging data were analyzed using the amplitude of low frequency fluctuation (ALFF) to measure spontaneous neural activity. Partial correlation analyses between the altered ALFF values and clinical variables (illness duration and Jankovic Rating Scale score) in patients with BSP were further conducted. Compared to healthy controls, medication-naïve patients with BSP exhibited significantly increased ALFF in the bilateral putamen and left premotor cortex and decreased ALFF in the bilateral thalamus (p < 0.05, threshold-free cluster enhancement with family-wise error correction for multiple comparisons). Furthermore, ALFF values in the left putamen in the patient group were positively correlated with illness duration (r = 0.53, p = 0.002). Our findings reveal aberrant spontaneous neural activity within key regions of the motor control network in medication-naïve BSP patients. These ALFF alterations, especially the progressive changes observed in the putamen, provide novel insights into BSP neuropathophysiology and highlight the value of studying untreated cohorts to understand the disorder's intrinsic characteristics.

The most common spread of blepharospasm (BSP) is to the oromandibular region, labeled as blepharospasm-oromandibular dystonia (BOM). We aimed to identify shared and different functional changes in BSP and BOM, trying to unveil the pathogenesis of these disorders and the mechanism of dystonic spread. This single center study recruited 16 BSP patients, 16 BOM patients and 20 healthy controls (HC). Clinical information and resting-state fMRI images were collected. Dynamic amplitude of low-frequency fluctuations (dALFF) was calculated using the sliding window method. Intergroup differences in static ALFF (sALFF) and dALFF were examined. Using dALFF results, seed-based static and dynamic functional connectivity (FC) were constructed to compare connectivity changes in BSP and BOM networks. Correlations between dynamic parameters and disease severity scores were analyzed using Spearman partial correlation. Compared with HC, BSP and BOM presented increased dALFF in the bilateral basal ganglia, bilateral supplementary motor area, right precentral gyrus, and bilateral cingulate gyrus. BOM further demonstrated decreased sALFF in the left cerebellum. Compared with HC, BOM patients had decreased sFC in the network involving the sensorimotor cortex, supplementary motor area, basal ganglia, cerebellum, and brainstem. In addition, decreased dFC strength was found between the right pallidum and cerebellum. Comparing with BSP patients, BOM patients showed decreased sFC and dFC strength in a similar but limited pattern. Clinical scores of BSP severity were significantly correlated with dALFF in some of these important regions. Our results demonstrated common brain regions with impaired functional activity in BSP and BOM patients. Further, BOM is featured with widespread connectivity reduction in the sensorimotor cortico-basal ganglia-brainstem-cerebellar network deriving from these key regions. These findings could help investigate mechanisms of dystonia spread and potentially facilitate disease-modifying therapies.

Introduction: Epilepsy is a manageable neurological disorder, but about one-third of cases are classified as drug-resistant epilepsy (DRE). DRE in pediatrics is more complex and may lead to cognitive function impairment, while surgery can offer seizure control in cases of focal DRE. Case: A 10-year-old male presented with a four-year history of recurrent seizures, thought to be caused by a left temporal cerebral cyst diagnosed five years earlier. During episodes, he experienced body stiffness, bilateral eye twitching, and drooling, with intact consciousness. After SARS-CoV-2 exposure, seizures became more frequent despite antiepileptic treatment, leading to partial resection of the left temporal lobe nine months later. Two years post epileptic surgery, he has become drug-responsive and achieved seizure control with symptomatic relief through medication. Discussion: Epilepsy is common in children, and DRE should be considered in cases of intractable epilepsy. Various factors can cause DRE, and in this patient, SARS-CoV-2 is thought to aggravate seizures by binding to ACE2 receptors in the central nervous system. This neural interaction may trigger reactive astrogliosis and neuroinflammation, disrupting the balance between glutamate and GABA levels. However, epilepsy surgery has been effective in improving the quality of life. Conclusion: Epilepsy surgery, either resective or non-resective surgery, is still rarely performed in Indonesia, while the management of DRE may require surgery. Although complete seizure freedom is not guaranteed, surgery can often convert DRE into a drug-responsive condition.

The development of idiopathic adult-onset dystonia (IAOD) in different body parts is associated with specific demographic and clinical characteristics, as well as with specific risk factors. To investigate whether specific occupations are associated with specific forms of IAOD at onset, namely blepharospasm (BSP), cervical dystonia (CD), and task-specific upper limb dystonia (TS-ULD). Data from 905 IAOD patients enrolled in the Italian Dystonia Registry were analysed. Each patient was assigned to the corresponding occupational category by specialists in occupational medicine according to the classification of the Italian National Institute of Statistics. Logistic regression models (adjusted for sex, year of birth, Italian geographical areas, and age at dystonia onset) were computed to assess the association between occupation and specific dystonia at onset, using patients who developed focal dystonia in other body parts as controls. Compared to other occupations, trades workers exhibited an increased risk for BSP at onset (OR = 2.6, 95% CI 1.6-4.2), cleaners for CD (OR = 3.4, 95% CI 1.2-9.9), and musicians for TS-ULD (OR = 36.3, 95% CI 11.3-117.1). The longer the duration of employment before the onset of dystonia, the greater the risk of dystonia. We provided novel information indicating that exposure to specific occupations may trigger specific forms of IAOD, namely BSP, CD, and TS-ULD. The associations highlighted by this study may reflect a common pathophysiological mechanism relying on the frequent performance of repetitive movements in a specific body part.

Apraxia of eyelid opening and the variable motor phenomenology of blepharospasm.

Background/Objectives: Blepharospasm (BSP) is a focal dystonia characterized by involuntary, bilateral spasms of the orbicularis oculi muscle. While botulinum toxin (BoNT) is the standard treatment, cognitive tasks such as reading and writing may exert transient modulatory effects on spontaneous blinking and dystonic spasms. This study investigates the potential of cognitive training, including reading and writing tasks, as a complementary therapeutic approach to BoNT in BSP patients. Methods: A total of 16 BSP patients were randomly assigned to two groups: Group A (n = 6) received cognitive training alongside BoNT, while Group B (n = 10) received only BoNT. Cognitive training included structured reading and writing exercises over three months. Blink rate (BR) and dystonic spasms were assessed at baseline (T0), one month (T1), and three months (T2) post-treatment. Results: Both groups exhibited a significant reduction in BR at T1 (p = 0.001), but Group A exhibited a greater improvement in BR (45.4%) compared to that of Group B (12.6%, p = 0.04). Reading and writing tasks were the most effective in reducing BR and dystonic spasms (p < 0.001). No significant correlation was found between the clinical and demographic features (p > 0.05). Conclusions: Cognitive training significantly enhances the therapeutic effects of BoNT on BR in BSP patients, suggesting its potential as a non-invasive complementary intervention. These preliminary findings warrant further investigation using larger cohorts and employing neurophysiological assessments.

Blepharospasm is a common focal cranial dystonia characterized by involuntary contractions of the orbicularis oculi muscle, resulting in spasmodic closure of the eyelids. The symptoms of blepharospasm are closely related to Nimesha , which is described as Vartmagata Roga by Acharya Sushruta. The present case report highlights the Ayurvedic treatment strategies for the management of blepharospasm. A 36-year-old female presented with blepharospasm, characterized by involuntary bilateral contractions of the eye and facial muscles, and sought Ayurvedic management. She had been experiencing symptoms such as excessive blinking, eyelid twitching, and pain in the facial and jaw muscles for the past 6 months. The treatment plan comprised internal medications like Dashamoola Ksheera Kashaya, Dhanvantaram Kashaya, Kalyanaka Ghrita , and Erandabhrista Haritaki Churna . In addition, external therapies such as facial Abhyanga (massage) with Ksheerabala Taila , Ksheeradhooma (medicated milk vapor), and Shiro Pichu (medicated oil-soaked cotton pad on the scalp) with Ksheerabala Taila were administered. Later, a Mriduvirechana (therapeutic mild purgation) with Nimbaamrutadi Eranda Taila was conducted. The treatment concluded with Shirodhara (medicated oil drip on the forehead) and Netra Picchu (medicated eye pads). After 26 days of treatment, the patient experienced significant relief from pain, with a decrease in the Visual Analog Scale score from 5 to 0. The Jankovic Rating Scale (JRS) for blepharospasm showed a reduction in severity from 4 to 2 and frequency from 3 to 1. The Blepharospasm Disability Index Score (BSDI) showed a significant improvement, decreasing from 10 to 2. This case suggests that Ayurvedic therapies can effectively reduce blepharospasm symptoms and improve the quality of life for patients.

Juvenile Myoclonic Epilepsy (JME) is one of the most common idiopathic generalized epilepsies, typically emerging during adolescence. Despite its characteristic clinical and EEG features, diagnosis may sometimes be delayed. The aim of this study is to determine the frequency of juvenile myoclonic epilepsy (JME) among generalized epilepsies in children and the issues that should not be overlooked in its clinical course. This retrospective cross-sectional study was conducted between 2017 and 2019 at Necmettin Erbakan University Meram Faculty of Medicine, Department of Pediatric Neurology, Electroencephalography (EEG) Unit. A total of 300 patients with generalized epilepsy were studied. A total of 3600 EEG recordings were evaluated in detail by the same pediatric neurologist. JME was detected in 8% of the patients; 80% of the patients were female, 20% were male, median age was 15 years (6-17 years), 44% of the patients had a family history of seizures, and 68% had parental consanguinity. Late diagnosis was observed in 4% of JME patients. The most common myoclonic seizures in both groups consisted of eyelid twitching, continuous hand tremor, and accidental dropping of an object in the hand. The mean time from first seizure to correct diagnosis was 2 years (1-6 years). This study demonstrates that in patients with undiagnosed generalized epilepsy in childhood, seizure characteristics should be assessed through a thorough review of their medical history and careful monitoring during clinical follow-up to accurately determine the true incidence of JME.

This study aimed to evaluate the effectiveness of minimally invasive partial orbicularis myectomy in treating benign essential blepharospasm while assessing the utility of the Jankovic Rating Scale and Blepharospasm Disability Index as comprehensive outcome measures. A retrospective study was conducted on 18 patients (36 eyes) with benign essential blepharospasm who underwent partial orbicularis myectomy between 2018 and 2022. All patients had previously shown inadequate response to botulinum toxin injections. Jankovic Rating Scale and Blepharospasm Disability Index scores were assessed preoperatively and at 1, 3, 6, and 12 months postoperatively to capture both symptom severity and functional impact. Statistical analysis was performed using the Wilcoxon signed-rank test. The median preoperative Jankovic Rating Scale score of 7.5 decreased to 3 one year postoperatively, reflecting a 50% improvement in symptom severity. Concurrently, the median Blepharospasm Disability Index score reduced from 20 to 9.5, indicating a 47.22% enhancement in functional capacity at 1 year. Both reductions were statistically significant ( p < 0.001) and sustained throughout the 1-year follow-up period. No significant complications were reported. Minimally invasive partial orbicularis myectomy demonstrates significant and sustained improvement in both symptom severity and functional disability in patients with benign essential blepharospasm refractory to botulinum toxin treatment. The combined application of Jankovic Rating Scale and Blepharospasm Disability Index proves to be an effective approach in evaluating surgical outcomes, offering valuable insights into both the clinical efficacy of partial orbicularis myectomy and its impact on patients' daily functioning.

Blepharospasm (BSP) is a common focal movement disorder linked to the basal ganglia and plasma catecholamines (CAs). This study aimed to analyze clinical characteristics of BSP patients and explore the relationship with plasma CAs. Clinical characteristics, clinician-rated scales, and plasma CAs were recorded, including dopamine (DA), 3-methoxytyramine (3-MT), and the 3-MT/DA ratio. Plasma CA levels were measured using liquid chromatography-tandem mass spectrometry. Clinical features, plasma CAs, and metabolite contents were compared between groups. Spearman’s correlation analysis examined the relationship between plasma CA levels, metabolites, and severity of BSP symptoms. We found that dry eye was an independent risk factor for BSP. Coffee consumption history was an independent protective factor against BSP. Compared to healthy controls, patients had increased DA and decreased 3-MT and 3-MT/DA levels. Anxiety severity negatively correlated with 3-MT and 3-MT/DA levels. The decreased 3-MT/DA ratio is more likely to be a potential biomarker of BSP. These findings highlight the importance of abnormal DA metabolism in BSP pathophysiology and suggest that anxiety symptoms may contribute to BSP pathogenesis by affecting CAs, providing new perspectives for future diagnosis, treatment, and prognostic evaluation of BSP.

Purpose To assess the retinal and choroidal microvascular changes in patients with benign essential blepharospasm (BEB) and to investigate the factors that may be effective on microvascularity. Methods This study included patients with BEB and healthy controls. All participants underwent a comprehensive examination followed by optical coherence tomography angiography (OCTA). Macular vascular perfusion density (VPD), foveal avascular zone (FAZ), and subfoveal choroidal thickness (CT) were measured. The clinical findings of the BEB group and the administration of botulinum toxin A (BTx-A) prior to OCTA imaging were recorded retrospectively from the medical records. Results A total of 16 patients with BEB and 20 healthy controls were included in this study. VPD values in all quadrants of the superficial and deep macular capillary plexus were significantly different in the BEB group compared to the control group (each p-value <0.05). In the choriocapillaris layer, VPD was significantly higher in the superior, nasal, and temporal quadrants compared to the control group (each p-value <0.05). The BEB group exhibited significantly smaller superficial and deep FAZ values compared to the control group, consistent with the observed increase in vascular density (each p-value <0.05). CT was thinner in the BEB group, although not statistically significant (p = 0.138). No correlation was found between the total dose of BTx-A administered to the BEB group and OCTA parameters (each p-value >0.05) Conclusion Benign essential blepharospasm may be associated with increased retinal vascular density in the superficial and deep capillary plexus and decreased FAZ area.