Positive effect of self-exercise following Botulinum toxin injection on the permanence of the recovery among the patients with HFS and BFS: A clinical trial.

BACKGROUND: Botulinum toxin (BoNT) injection serves as the primary modality for addressing hemifacial spasm (HFS) and blepharospasm (BFS), which are prevalent movement disorders affecting the craniofacial region. However, even though the short-term effectiveness of the botulinum injection may reach over 80%, the long-term effectiveness is still a debatable point Herein, we aim to investigate whether facial self-exercise following the BoNT injection can extend the time period of effectiveness. METHODS: In this study, 51 volunteers who received Onabotilinumtoxin A (BoNTA) treatment for the diagnosis of HFS or BFS, were randomized into 2 groups. A detailed instruction about the self-exercise was given by an experienced physician to the subjects in Group 1. Volunteers were asked to repeat the exercise program afterward and continue to each movement for 5 seconds, to repeat each movement 10 times with a 10-second break, every day, 3 times a week for 1 week. hemifacial spasm grating scale (HSGS) and Jankovic scales were used to assess the efficacy of the treatment. RESULTS: Both groups are similar to each other based on demographic features and the severity of the diseases. According to HSGS and Jankovic scales, at the end of the first month, there was no significant difference between the groups. At the end of the third month, the improvement achieved in the first month remained the same in each parameter in Group 1. On the other hand, in Group 2, most of the values returned to the baseline. CONCLUSION: Facial self-exercise following the botulinum toxin application may extend the period of effectiveness of botulinum toxin treatment the subjects with HFS and BFS.

Translation, adaptation, and cross-cultural validation of the CDQ-24 scale in patients with primary blepharospasm under botulinum toxin treatment, pilot test.

BACKGROUND: Benign essential blepharospasm (BEB) is the most common adult-onset focal facial dystonia and its treatment of choice is periodic application of botulinum toxin (BtA). It has a higher incidence in middle and late adulthood, especially in women between 40 and 60 years of age. OBJECTIVE: To carry out the translation and cross-cultural adaptation of the CDQ24 questionnaire in its Spanish version in patients diagnosed with BEB who have been treated with BtA in an ophthalmologic center in Bogotá - Colombia. MATERIALS AND METHODS: Pilot test of validation study and adaptation of a scale assembled in a prospective cohort of the CDQ24 instrument to Spanish in adult patients with primary blepharospasm treated with botulinum toxin in Bogota, Colombia. RESULTS: We obtained a sample of 26 patients to whom the instrument was applied after translation and retranslation of the original document, composed of 19 (73%) women with a median age of 64.5 years; the average time to answer the survey was 4.93 min. The internal consistency of the scale evaluated by Cronbach's Alpha had a total score of 0.78. Criterion validity between the CDQ24 scale and the WHOQOL-BREF quality of life scale was determined by determining correlation between the Emotional Well-Being and Phsychological domains of both scales. CONCLUSIONS: The translation and cross-cultural adaptation of the CDQ-24 scale into Spanish allowed the applicability of the instrument to the Spanish-speaking population during the pilot test, which allows us to continue the relevant studies in the study population.

Longitudinal assessment of blepharospasm severity in patients with long disease duration.

INTRODUCTION: Blepharospasm (BSP) represents one of the most common idiopathic adult-onset dystonia. A few longitudinal observations indicated progression and worsening of BSP severity within 16 years of onset. Information is lacking about the trend of BSP severity in the later stages of the disease. METHODS: The study comprised 15 women and 3 men that underwent a standardized video protocol at two time points: 14 ± 9 years after BSP onset and 11 ± 2 years later. BSP severity was rated by the Blepharospasm Severity Rating Scale (BSRS). Two independent observers reviewed 36 videos in a pseudo-randomized order, yielding satisfactory agreement. RESULTS: Mean total severity score was 7.6 ± 3.9 years at baseline, 6.4 ± 2.5 at the last examination (p = 0.14). The last video examination showed a stable BSRS score in 14/18 patients, while the score of 4 patients decreased by two points or more, due to disappearance (n.3) or reduction (n.1) of prolonged spasms with complete rim closure. Over the long term, the BoNT dosage increased in those who improved, but remained stable in the other patients. On follow-up examination, dystonia spread to the lower face or neck in two new patients. No significant correlations emerged between disease duration and BSP severity. The presence of sensory trick significantly correlated with disease duration but not with BSP severity. DISCUSSION: This study provides novel information on the long-term prognosis in patients with idiopathic BSP, showing that severity of BSP may not worsen in the later stages of the disease.

Effects of onabotulinum toxin type A injections in patients with Meige's syndrome.

BACKGROUND: Meige's syndrome is a type of facial dystonia characterized by the simultaneous occurrence of blepharospasm and oromandibular dystonia. Although botulinum toxin type A (OBTA) injections are the standard treatment, evidence of their effectiveness and safety in this scenario is still lacking. OBJECTIVE: Our research aimed to evaluate the improvement and occurrence of side effects following injections of onabotulinum toxin type A (OBTA) in patients with Meige's syndrome. METHODS: Patients with Meige's syndrome undergoing botulinum toxin injections were enrolled in this study. We assessed dystonia intensity before and 14 days after OBTA injection using the Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) to measure the response of symptoms in the eyes (blepharospasm) and mouth (oromandibular dystonia). Other variables, such as dosage, side effects, and demographic data, were also recorded. RESULTS: The study included 41 participants, with a mean age of 67.7 years and a female-to-male ratio of 3.5:1. The mean BFMDRS score before the injections was 8.89, and after 14 days, it was 2.88. The most reported side effect was ptosis, with a 7.3% incidence. OBTA significantly reduced dystonia severity (p < 0.0001). The clinical response for the blepharospasm component was superior to the oromandibular dystonia component. CONCLUSION: Our results support that OBTA seems to be an effective and safe therapeutic option for treating Meige's syndrome. The effect of OBTA was more pronounced in the treatment of blepharospasm than in oromandibular dystonia.

ANTECEDENTES: A síndrome de Meige (SM) é caracterizada pela ocorrência concomitante de blefarospasmo e distonia oromandibular. Embora a toxina onabotulínica do tipo A (TBA) seja o tratamento de escolha, há uma falta de evidências sobre sua eficácia e segurança nesse cenário. OBJETIVO: O objetivo do nosso estudo foi avaliar os efeitos obtidos com a aplicação de TBA em pacientes com SM. MéTODOS: Pacientes com SM que realizam aplicação de TBA foram convidados a participar desse estudo. Os participantes foram questionados sobre a intensidade da distonia antes e 14 dias após a injeção de TBA, utilizando a Escala de Distonia de Burke-Fahn-Marsden (EDBFM) para mensurar a resposta obtida em cada segmento. Outras variáveis, como dose, ocorrência de efeitos colaterais e dados demográficos, também foram registradas. RESULTADOS: O estudo contou com 41 participantes (idade média de 67,7; razão de 3,5 pacientes do sexo feminino para cada participante do sexo masculino). O escore médio na EDBFM antes das aplicações de TBA era 8,89, e, após 14 dias, 2,88. O efeito colateral mais reportado foi ptose (7.3%). A TBA foi capaz de reduzir a severidade da distonia (p < 0.0001), principalmente do blefarospasmo. CONCLUSãO: Nossos resultados corroboram que a TBA é uma terapêutica eficaz e segura no tratamento da SM. O efeito da TBA é superior no manejo do blefarospasmo em relação à distonia oromandibular.

Objective demonstration of eyelid spasm relief with smartphone and custom software in hemifacial spasm patients.

PURPOSE: To objectively demonstrate eyelid spasms relief in hemifacial spasm (HFS) patients using a smartphone and a custom-made software. METHODS: Nineteen patients with HFS had standardized videos recorded with a smartphone (iPhone 6S, Apple) camera before and 15 days after receiving onabotulinumtoxinA injections. Nineteen age-matched control subjects were also assessed. The Eye Aspect Ratio (EAR) is an algorithm previously described to determine whether the eye is opened or closed. When the eye is closed, EAR tends to be closer to zero. Analogously, if the eye is wide open, values are greater. A custom-made software using the EAR concept was developed and pre- and post-treatment EARs were analyzed to assess HFS patients. RESULTS: Botulinum toxin (BoNT) injections led to a significant increase in the average EAR of the affected side: + 10.4% (p = 0.0175) of HFS patients, compared to baseline. Mean EAR before BoNT applications were significantly lower (16.2%) on the affected side (0.25 ± 0.05) of HFS patients when compared to controls (0.30 ± 0.05, p = 0.004). After BoNT injections, no statistically significant difference was observed for the average EAR between the affected side of HFS patients (0.27 ± 0.04) and controls (p = 0.20). CONCLUSIONS: Use of a smartphone and custom-made software objectively demonstrated eyelid spasm relief in patients with HFS. Additional refinement of this system could permit more accurate assessments of treatment response rates for each patient, making it possible to be used in clinical practice.

Does sex influence the natural history of idiopathic adult-onset dystonia?

BACKGROUND: Several earlier studies showed a female predominance in idiopathic adult-onset dystonia (IAOD) affecting the craniocervical area and a male preponderance in limb dystonia. However, sex-related differences may result from bias inherent to study design. Moreover, information is lacking on whether sex-related differences exist in expressing other dystonia-associated features and dystonia spread. OBJECTIVE: To provide accurate information on the relationship between sex differences, motor phenomenology, dystonia-associated features and the natural history of IAOD. METHODS: Data of 1701 patients with IAOD from the Italian Dystonia Registry were analysed. RESULTS: Women predominated over men in blepharospasm, oromandibular, laryngeal and cervical dystonia; the sex ratio was reversed in task-specific upper limb dystonia; and no clear sex difference emerged in non-task-specific upper limb dystonia and lower limb dystonia. This pattern was present at disease onset and the last examination. Women and men did not significantly differ for several dystonia-associated features and tendency to spread. In women and men, the absolute number of individuals who developed dystonia tended to increase from 20 to 60 years and then declined. However, when we stratified by site of dystonia onset, different patterns of female-to-male ratio over time could be observed in the various forms of dystonia. CONCLUSIONS: Our findings provide novel evidence on sex as a key mediator of IAOD phenotype at disease onset. Age-related sexual dimorphism may result from the varying exposures to specific age-related and sex-related environmental risk factors interacting in a complex manner with biological factors such as hormonal sex factors.

Are Cognitive Symptoms Part of the Phenotypic Spectrum of Idiopathic Adult-Onset Dystonia? Summary of Evidence from Controlled Studies.

BACKGROUND: Cognitive dysfunction has been reported in idiopathic adult-onset dystonia (IAOD), but whether this is a primary or secondary component of the disorder remains uncertain. OBJECTIVE: Here, we aimed to analyze the key domains of abnormal cognitive performance in IAOD and whether this is associated with motor or mood changes. METHODS: Article selection for our critical review was guided by PRISMA guidelines (mesh terms "dystonia" and "cognitive," publication period: 2000-2022). Only peer-reviewed, English-language original case-control studies involving patients with IAOD who were not exposed to dopamine- or acetylcholine-modulating agents and validated cognitive assessments were included. RESULTS: Abstract screening ultimately yielded 22 articles for full-text review and data extraction. A greater proportion of studies (17 of 22, 82%) reported abnormal cognitive performance in IAOD. Most of these studies focused on blepharospasm (BSP) and cervical dystonia (10 and 14, respectively). Most studies reporting cognitive impairment (11 of 17) identified multidomain impairment in cognition. Executive functions were the domain most frequently explored (14 of 22 studies), 79% of which detected worse performance in people with dystonia. Results related to other domains were inconclusive. Cognitive abnormalities were independent of motor symptoms in most studies (7 of 12) that explored this relationship and independent of mood status in all 8 that investigated this. CONCLUSIONS: Within IAOD, cognitive dysfunction (in particular, executive dysfunction) has been documented mainly in BSP and cervical dystonia. More comprehensive testing is warranted to assess abnormalities in other domains and in other forms of IAOD, as well as to evaluate longitudinal progression of cognitive disturbances in this condition.

Spatiotemporal Gait Differences before and after Botulinum Toxin in People with Focal Dystonia: A Pilot Study.

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.

Abnormal supplementary motor areas are associated with idiopathic and acquired blepharospasm.

Blepharospasm is a common form of focal dystonia characterized by excessive and involuntary spasms of the orbicularis oculi. In addition to idiopathic blepharospasm, lesions in various brain regions can also cause acquired blepharospasm. Whether these two types of blepharospasm share a common brain network remains largely unknown. Herein, we performed lesion coactivation network mapping, based on meta-analytic connectivity modeling, to test whether lesions causing blepharospasm could be mapped to a common coactivation brain network. We then tested the abnormality of the network in patients with idiopathic blepharospasm (n = 42) compared with healthy controls (n = 44). We identified 21 cases of lesion-induced blepharospasms through a systematic literature search. Although these lesions were heterogeneous, they were part of a co-activated brain network that mainly included the bilateral supplementary motor areas. Coactivation of these regions defines a single brain network that encompasses or is adjacent to most heterogeneous lesions causing blepharospasm. Moreover, the bilateral supplementary motor area is primarily associated with action execution, visual motion, and imagination, and participates in finger tapping and saccades. They also reported decreased functional connectivity with the left posterior cingulate cortex in patients with idiopathic blepharospasm. These results demonstrate a common convergent abnormality of the supplementary motor area across idiopathic and acquired blepharospasms, providing additional evidence that the supplementary motor area is an important brain region that is pathologically impaired in patients with blepharospasm.

An Exploratory, Randomized, Double-Blind Clinical Trial of Dipraglurant for Blepharospasm.

BACKGROUND: Blepharospasm is treated with botulinum toxin, but obtaining satisfactory results is sometimes challenging. OBJECTIVE: The aim is to conduct an exploratory trial of oral dipraglurant for blepharospasm. METHODS: This study was an exploratory, phase 2a, randomized, double-blind, placebo-controlled trial of 15 participants who were assigned to receive a placebo or dipraglurant (50 or 100 mg) and assessed over 2 days, 1 and 2 hours following dosing. Outcome measures included multiple scales rated by clinicians or participants, digital video, and a wearable sensor. RESULTS: Dipraglurant was well tolerated, with no obvious impact on any of the measurement outcomes. Power analyses suggested fewer subjects would be required for studies using a within-subject versus independent group design, especially for certain measures. Some outcome measures appeared more suitable than others. CONCLUSION: Although dipraglurant appeared well tolerated, it did not produce a trend for clinical benefit. The results provide valuable information for planning further trials in blepharospasm. © 2024 International Parkinson and Movement Disorder Society.

Microlesion Effect Induced by Electrode Implantation in the Posteroventral Globus Pallidus Interna for Severe Dystonic Tics.

Background: Tourette syndrome (TS) is a neurologic condition characterized by motor and phonic tics. Dystonic tics, including blepharospasm, are considered atypical or unusual in severe TS. Case Report: We report a severe case of TS with facial dystonic tics resembling blepharospasm in which the microlesion effect and a sustained therapeutic effect was observed with bilateral globus pallidus interna (GPi) deep brain stimulation (DBS). Discussion: Bilateral GPi DBS can be beneficial for blepharospasm-like tics and severe symptoms of TS. The improvements seen can be explained by the microlesion effect induced by DBS lead placement in the GPi.

Facial phantom model: a low-cost and safe tool for teaching botulinum toxin application in neurology residencies.

BACKGROUND: The application of botulinum toxin (BoNT) in the treatment of blepharospasm and hemifacial spasm (HS) is a well-established practice. However, neurology residency programs often rely on real patients for training, which has limitations in terms of patient availability and skill acquisition. OBJECTIVE: Assess the efficacy of a new facial phantom model for acquiring motor skills in BoNT application. METHODS: An anthropomorphic facial phantom model was developed in collaboration with a medical training simulator start-up. A group of seven neurologists and one ophthalmologist with expertise in BoNT application evaluated the model using an adapted learning object review instrument (LORI). The instrument assessed aspects such as: content quality, alignment of learning objectives, feedback and adaptation, motivation, presentation design, and accessibility. RESULTS: The facial phantom model received high scores in the LORI evaluation, with the highest ratings given to alignment with learning objectives and motivation. The model also scored well in terms of accessibility, content quality, and presentation design. However, feedback and adaptation received a lower score due to the static nature of the model. CONCLUSION: The facial phantom model shows promise as a valuable tool for teaching and developing competence in BoNT application for HS and blepharospasm. The model reduces the reliance on real patients for training, providing a broader and safer learning experience for neurology residents. It also provides a realistic learning experience and offers portability, cost-effectiveness, and ease of manufacturing for use in various medical training scenarios. It is an effective and accessible tool for teaching BoNT application.

ANTECEDENTES: A aplicação de toxina botulínica (TxB) no tratamento do blefaroespasmo e do espasmo hemifacial (EH) é uma prática bem estabelecida. No entanto, os programas de residência em neurologia frequentemente dependem de pacientes reais para treinamento, o que apresenta limitações em termos de disponibilidade de pacientes e aquisição de habilidades. OBJETIVO: Avaliar a eficácia de um novo modelo de manequim facial para aquisição de habilidades motoras na aplicação de TxB. MéTODOS: Foi desenvolvido um modelo antropomórfico de manequim facial em coloboração com uma empresa de simuladores de treinamento médico. Um grupo constituído por sete neurologistas e um oftalmologista com experiência em aplicação de TxB avaliou o modelo utilizando um instrumento adaptado de revisão de objeto de aprendizagem (LORI). O instrumento analisou aspectos como: qualidade do conteúdo, alinhamento dos objetivos de aprendizagem, feedback e adaptação, motivação, concepção da apresentação e acessibilidade. RESULTADOS: O modelo de manequim facial obteve pontuações altas na avaliação do LORI com os maiores escores em alinhamento com os objetivos de aprendizagem e motivação. O modelo também obteve boas pontuações em termos de acessibilidade, qualidade do conteúdo e concepção da apresentação. No entanto, o item feedback e adaptação recebeu uma pontuação média mais baixa, devido à natureza estática. CONCLUSãO: O modelo manequim facial mostra-se promissor como uma EH e blefaroespasmo. O modelo reduz a dependência de pacientes reais para treinamento portátil, de baixo custo e de fácil fabricação para uso em diversos cenários de treinamento, proporcionando uma experiência de aprendizagem mais ampla e segura para residentes de neurologia. Além disso, fornece uma experiência de aprendizagem realista e oferece portabilidade, economia e facilidade de fabricação para uso em vários cenários de treinamento médico. É uma ferramenta eficaz e acessível para o ensino da aplicação de TxB.

New-Onset Focal Task Specific Oromandibular Dystonia in Association with Quran Recitation: A Case Series.

Background: Focal task-specific dystonia is a form of isolated focal dystonia that occurs during the performance of a specific skilled motor task. The occurrence of oromandibular dystonia (OMD) specifically in association with the recitation of Quranic verses have been rarely reported in the literature, in non-native Arabic-speaking patients. This case series describe a rare type of focal task-specific dystonia that occurs exclusively by reciting Quran in native Arabic-speaking patients, which has never been reported, to the best of our knowledge. Methods: In this case series, we identified five patients with new-onset OMD that was exclusively induced by reciting Quran. Cases were evaluated in our Movement Disorders outpatient clinic at Ibn Sina hospital; the main tertiary neurology center in Kuwait, between 2015 and 2023. Results: Five cases (3 males, 2 females) were identified in this study. Mean age of onset of the symptoms was 52.3 ± 4.1 years, while the median duration of the symptoms prior to diagnosis was 3 years. All patients were native Arab-speaking, with no previous history of other types of dystonia. No identifiable risk factors could be obtained including exposure to dopamine blocking agents or antipsychotics, or history of oral or dental surgery. Patients underwent a full clinical, laboratory, and radiological evaluation. All patients had OMD dystonia in varying forms and severity, while two patients had additional spasmodic dysphonia/ blepharospasm on progressive recitation. Most patients had minimal improvement with combination of oral medications and speech therapy. Four patients received botulinum toxin injections with better results. Discussion: The mental and physical stress in attempting to recite the Quranic verses could have contributed to the development of OMD. Moreover, the increased demand on the muscles of the jaw, lips, and tongue during recitation can trigger the dystonic symptoms. Highlights: OMD exclusively during Quran recitation is a rare phenomenon, and expands the spectrum of task-specific focal dystonia described in the literature. It was found to be distressing to the patients and a challenge to treat. Prompt recognition could minimize unnecessary testing and procedures, and facilitate earlier treatment.

Evaluating ChatGPT on Orbital and Oculofacial Disorders: Accuracy and Readability Insights.

PURPOSE: To assess the accuracy and readability of responses generated by the artificial intelligence model, ChatGPT (version 4.0), to questions related to 10 essential domains of orbital and oculofacial disease. METHODS: A set of 100 questions related to the diagnosis, treatment, and interpretation of orbital and oculofacial diseases was posed to ChatGPT 4.0. Responses were evaluated by a panel of 7 experts based on appropriateness and accuracy, with performance scores measured on a 7-item Likert scale. Inter-rater reliability was determined via the intraclass correlation coefficient. RESULTS: The artificial intelligence model demonstrated accurate and consistent performance across all 10 domains of orbital and oculofacial disease, with an average appropriateness score of 5.3/6.0 ("mostly appropriate" to "completely appropriate"). Domains of cavernous sinus fistula, retrobulbar hemorrhage, and blepharospasm had the highest domain scores (average scores of 5.5 to 5.6), while the proptosis domain had the lowest (average score of 5.0/6.0). The intraclass correlation coefficient was 0.64 (95% CI: 0.52 to 0.74), reflecting moderate inter-rater reliability. The responses exhibited a high reading-level complexity, representing the comprehension levels of a college or graduate education. CONCLUSIONS: This study demonstrates the potential of ChatGPT 4.0 to provide accurate information in the field of ophthalmology, specifically orbital and oculofacial disease. However, challenges remain in ensuring accurate and comprehensive responses across all disease domains. Future improvements should focus on refining the model's correctness and eventually expanding the scope to visual data interpretation. Our results highlight the vast potential for artificial intelligence in educational and clinical ophthalmology contexts.

The long-term response to botulinum toxin injections in patients with blepharospasm undergoing upper eyelid surgery.

BACKGROUND: Upper eyelid surgery (UES) is a therapeutical strategy used for those patients affected by blepharospasm (BSP) who either do not respond or experience a gradual decrease in responsiveness to botulinum toxin (BoNT) injections. Nevertheless, most of them need to restart with BoNT despite the intervention. AIM: To evaluate the long-term post-surgical response to BoNT in patients with BSP and to identify predictive factors associated to treatment outcome. METHODS: We collected data of 60 BS patients, divided into two groups - blepharoplasty YES (8) and NO (52), collecting demographic - age, sex - and clinical data -disease duration, duration of the treatment with BoNT. Respective responses to injections - evaluated through the differences of both Jancovic Rating Scale and the Blepharospasm Disability Index pre and post BoNT (delta JRS and delta BSDI) just before their periodic three-month injection and after 1 month from it - were compared. Finally, clinical and demographics variables were included in multivariate regression and correlation analyses to assess their impact on the long-term response to injections. RESULTS: Patients who underwent UES had significantly lower delta at both scales, showing a poorer outcome after BoNT treatment. No variable was found to be associated with the response. DISCUSSION: Our data seem to suggest that surgery does not improve response to BoNT injections on the long run. As such, UES could be considered as an efficacious treatment in BSP just if evaluated soon after its performing. Long-term BSP management seems still difficult to be performed adequately and new therapeutical approaches are still needed.

Sjogren's syndrome meets Meige's syndrome.

This report details a rare case where a patient simultaneously suffered from Sjogren's syndrome (SS) and Meige's syndrome (MS). SS, an autoimmune disorder, and MS, a rare neurological condition characterized by involuntary eyelid closure, presented in a 73-year-old male. The patient had been experiencing dry eye symptoms for the past 5 years, with the onset of eyelid spasms and tetanic eye closure occurring 3 years ago. Traditional treatments, including subthalamic nucleus deep brain stimulation, provided only temporary relief. Diagnostic evaluations, including blood tests and imaging, confirmed SS and MS coexistence. Treatment involved a combination of steroids, immunosuppressants, and immunoglobulin, leading to significant symptom relief. This case suggests a potential association between SS and the development of MS, highlighting the importance of immunomodulatory therapy in managing neurological symptoms. Further research is needed to explore the relationship between these two conditions and to develop more effective treatment strategies.

TOR2A Variants in Blepharospasm.

Background: Genetic factors have been implicated in the pathogenesis of blepharospasm (BSP), a dystonia characterized by excessive blinking and involuntary eyelid closure. Previous research identified a co-segregating deleterious TOR2A variant (GRCh38/hg38, NC_000009.12: g.127733410G>A, NM_001085347.3:c.568C>T, p. Arg190Cys) in three subjects with BSP and three carriers within a multi-generation pedigree. Other TOR2A variants have been reported in patients with dystonia. Methods: Sanger sequencing was used to screen a cohort of 307 subjects with isolated BSP or BSP-plus dystonia affecting additional anatomical segments (BSP+). We also utilized computational tools to uniformly assess the deleteriousness and potential pathogenicity of previously reported TOR2A variants. Results: There were no highly deleterious TOR2A variants in the coding or contiguous splice site regions of TOR2A within our cohort of 307 subjects. Discussion: Highly deleterious variants in TOR2A are rare in patients with BSP/BSP+ phenotypes. Highlights: Over 300 patients with BSP were screened for variants in TOR2A, a TOR1A (DYT1) homologue. No highly deleterious variants were identified in our cohort. The role of TOR2A in BSP and other forms of dystonia remains indeterminant.