RARE DISEASE
Blepharospasm-oromandibular dystonia syndrome
Blepharospasm-oromandibular dystonia syndrome
Blepharospasm-oromandibular dystonia syndrome
Synonyms: Meige dystonia, Meige syndrome
Synonyms: Meige dystonia, Meige syndrome
Synonyms: Meige dystonia, Meige syndrome
Drug discovery
2
drugs
With orphan designations
Overview
Blepharospasm-oromandibular dystonia syndrome (BOS), also termed Meige syndrome, is an adult-onset focal dystonia characterized by involuntary contractions of orbicularis oculi (blepharospasm) and jaw/tongue muscles (oromandibular dystonia) [1][5][16]. Primarily idiopathic, it arises from basal ganglia dysfunction, with symptoms exacerbated by stress, light, or movement [6][9]. Diagnosis is clinical, and management focuses on symptom control [5][7].
Burden
Causes functional blindness, dysphagia, and speech impairment, severely impacting daily activities [4][6].
Associated with anxiety/depression in 30–60% of patients due to social stigma and chronic disability [6][9].
Requires lifelong multidisciplinary care, with 90% of patients reliant on repeat botulinum toxin injections [5][7].
Therapies
First-line: Botulinum toxin injections (e.g., onabotulinumtoxinA) targeting orbicularis oculi, masseter, and temporalis muscles [5][7][11].
Adjuncts: Anticholinergics (trihexyphenidyl), benzodiazepines (clonazepam), or gabapentinoids [7][19].
Refractory cases: Surgical myectomy or deep brain stimulation of the globus pallidus interna [7][11].
Categories: rare genetic diseases, rare neurological diseases
Research Papers
372 drug discovery papers about Blepharospasm-oromandibular dystonia syndrome, with 1 first-in-class and 2 next-in-class emerging drug candidates forecasted to outperform the average preclinical success rate. Recent publications:
372 drug discovery papers about Blepharospasm-oromandibular dystonia syndrome, with 1 first-in-class and 2 next-in-class emerging drug candidates forecasted to outperform the average preclinical success rate. Recent publications:
2026-08-14 | Use of explainable cluster analysis to identify distinct subtypes of Meige syndrome patients and associated biomarker profiles.
Meige syndrome (MS), a complex form of segmental craniocervical dystonia, currently lacks objective diagnostic biomarkers.This study aims to identify biological biomarkers that can stratify patients with MS and to reveal the complex pathophysiological heterogeneity of this disorder, with particular attention to the peripheral immune-metabolic profiles that may reflect underlying neuroimmune dysfunction. We retrospectively collected clinical and laboratory data from 1,782 patients with MS during their first hospitalization at the MS Center of The Third People's Hospital of Henan Province between 2023 and 2025. A total of 66 clinical and laboratory indicators were included. An interpretable clustering analysis framework was applied to perform a series of pipeline analyses, including imputation, dimensionality reduction, outlier removal, and clustering. Next, feature importance was assessed. A multi-class classification model was then constructed and evaluated using XGBoost. Finally, the Shapley Additive exPlanations(SHAP) algorithm was employed to interpret the contribution of each feature. The preprocessing pipeline effectively imputed missing values (ranging from 0.06% to 14.14%) and removed outliers. Unsupervised clustering analysis revealed three heterogeneous subtypes of MS. A total of 23 important features were selected to construct a multi-class XGBoost classification model. The model demonstrated excellent performance, with a macro-average AUC of 0.9790 and an Obuchowski index of 0.9784. The SHAP analysis further elucidated the unique hematological and biochemical metabolic characteristics of each subtype. This study establishes a novel, data-driven subtyping system for MS based on objective blood and metabolic profiles. The three identified subtypes display distinct immune-metabolic signatures: a hypercoagulable-inflammatory profile, a metabolic-excess profile with impaired vascular protection, and a frailty-associated antioxidant-deficient profile. These peripheral biomarker patterns suggest testable hypotheses regarding neuroimmune mechanisms-including fibrinogen-driven microglial activation, oxidized lipid-mediated blood-brain barrier disruption, and uric acid-dependent antioxidant depletion-that may contribute to the pathophysiology of different MS subtypes. This framework may inform future prospective investigations into precision medicine approaches for MS, though substantial validation is required before clinical translation.
2026-07-28 | A Case of Meige Syndrome in a Pediatric Patient With Schizophrenia.
Long-term treatment with multiple antipsychotic medications for schizophrenia may increase the risk of developing tardive dystonia, including Meige syndrome. Although clozapine has been suggested as a way of improving dystonia symptoms, there is no established consensus regarding its use in pediatric patients with treatment-resistant schizophrenia, and careful consideration is required. A 12-year-old boy with schizophrenia experienced blepharospasm and oromandibular twitching while undergoing treatment with multiple antipsychotic medications. We stopped giving him the same medications that had been used during his previous hospitalizations (risperidone, olanzapine, aripiprazole, lurasidone, and paliperidone, paliperidone palmitate (a long-acting injectable), asenapine, and blonanserin). We then started giving him clozapine, gradually increasing the dose to 125 mg. Following this treatment intervention, the dystonic symptoms resolved completely, and the psychiatric symptoms stabilized.
2026-05-25 | Intervention effects of different brands of botulinum toxin type A on Meige syndrome with anxiety symptoms.
Patients with Meige syndrome are often affected by anxiety symptoms, and drug therapy is the primary treatment option, with botulinum toxin A being the most frequently used medication. This study analyzes the intervention effects of different brands of botulinum toxin A on Meige syndrome with anxiety symptoms. The findings aim to provide a theoretical basis for the rational selection of clinical treatment options. A retrospective analysis was conducted on 148 patients treated between January 2021 and December 2023. Patients were divided into two groups based on the BoNT-A brand received: Chinese botulinum toxin type A (Hengli) group (n = 80) and onabotulinumtoxinA (Botox) group (n = 68). Both groups received local injections at the sites of muscle spasms. The outcomes included the degree of spasm relief, duration of efficacy, scores on the Self-Rating Anxiety Scale (SAS) and Self-Rating Depression Scale (SDS), polysomnography parameters [sleep efficiency (SE), total sleep time (TST), sleep latency (SL), number of wakefulness (AI), rapid eye movement sleep time (REMS)], and adverse reactions. There were no statistically significant differences in the total remission rate and efficacy maintenance time between the two groups (p > 0.05). The differences in the scores of the SAS, SDS, SE, TST, SL, AI, and REMS before and after treatment between the two groups were not statistically significant (p > 0.05). There was no statistically significant difference between the two groups when comparing the incidence of adverse reactions such as incomplete eyelid closure, facial muscle weakness, and drooping of the corners of the mouth during expression muscle activity (p > 0.05). Local injection of botulinum toxin type A is a safe and effective treatment for Meige syndrome with anxiety symptoms, and there is no significant difference in the efficacy, duration of action, and improvements in psychological state and sleep quality between different brands of botulinum toxin type A. Therefore, clinical practice should be based on practical considerations to reasonably select the appropriate brand of botulinum toxin type A for treatment.
2026-05-01 | Subthalamic nucleus deep brain stimulation in Meige syndrome: mapping the optimal stimulation sites and network targets.
The aim of this study was to identify the optimal stimulation sites for subthalamic nucleus (STN) deep brain stimulation (DBS) in treating Meige syndrome using long-term follow-up data from a large sample cohort, evaluate the whole-brain functional connectivity patterns associated with favorable treatment responses, and validate these findings in an independent cohort. The authors retrospectively analyzed long-term outcomes in 65 patients with Meige syndrome who underwent bilateral STN-DBS in two centers. The local stimulation effects within the STN and the distributed functional connectivity associated with motor improvement were investigated using advanced imaging and modeling tools, including the Lead-Group Toolbox, DBS Sweet Spot Mapping Explorers, and DBS Network Mapping Explorers. To ensure the model's reliability and generalizability, both internal validation through multiple cross-validation strategies and external validation using independent cohorts were conducted. STN-DBS yielded significant and sustained motor improvements in both cohorts, with mean Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) movement score reductions of 63% in the training cohort (n = 50) and 56% in the validation cohort (n = 15) (p < 0.001). At the local level, the optimal stimulation sites were consistently located in the dorsolateral sensorimotor subregion of the STN, extending bilaterally toward the associative subregion and centered at MNI coordinates x = ±12, y = -13, z = -6. At the network level, favorable outcomes were primarily associated with positive functional connectivity to the cerebellum and negative connectivity to the somatosensory cortex. Both the sweet spot and connectivity models developed using the training cohort showed significant correlations with clinical outcomes in the independent validation cohort (R = 0.59, p = 0.020; R = 0.74, p = 0.002, respectively) and remained robust across different cross-validation strategies. The optimal therapeutic efficacy of STN-DBS for Meige syndrome depends on precise targeting within the dorsolateral STN and modulation of a distributed functional network involving the cerebellum and sensorimotor cortex. These findings may aid in developing personalized targeting strategies and adaptive programming paradigms, ultimately improving the therapeutic efficacy of DBS in this challenging disorder.
2026-02-09 | Case Report: Effective management of a Meige syndrome patient with subthalamic stimulation-induced dyskinesia through timed stimulation programming of different contacts.
Meige syndrome is a rare adult-onset segmental dystonia characterized by blepharospasms and oromandibular dystonia. Deep brain stimulation (DBS) of the subthalamic nucleus (STN) is an established treatment, but it can lead to stimulation-induced dyskinesia (SID) in some patients. Refractory SID in Meige syndrome after STN-DBS is clinically challenging. We report a case of a Meige syndrome patient who developed refractory SID following STN-DBS and was successfully managed using a novel timed-stimulation programming strategy employing different contacts. A 47-year-old female with a two-year history of Meige syndrome developed refractory SID after the treatment of STN-DBS. Various programming strategies were attempted, including monopolar stimulation, interleaved stimulation, bipolar stimulation et al., but none achieved a balance between symptom control and SID. A novel approach involving timed alternation between ventral contacts (contacts 3 and 7) and dorsal contacts (contacts 4 and 8) was implemented. The stimulation was gradually programmed, the duration of ventral stimulation was increased while decreasing dorsal stimulation. Eventually, the patient achieved significant symptom improvement without SID. The reconstruction of the volume of tissue activated (VTA) revealed that this stimulation strategy likely modulates the neural circuits of pallidothalamic fibers (PTF) to suppress SID. This case demonstrates that this noval timed stimulation programming can effectively manage refractory SID in Meige syndrome patients, offering a viable alternative when conventional methods fail. The findings suggest that PTF stimulation plays a key role in SID suppression, and this strategy warrants further investigation in larger cohorts.
2026-08-14 | Use of explainable cluster analysis to identify distinct subtypes of Meige syndrome patients and associated biomarker profiles.
Meige syndrome (MS), a complex form of segmental craniocervical dystonia, currently lacks objective diagnostic biomarkers.This study aims to identify biological biomarkers that can stratify patients with MS and to reveal the complex pathophysiological heterogeneity of this disorder, with particular attention to the peripheral immune-metabolic profiles that may reflect underlying neuroimmune dysfunction. We retrospectively collected clinical and laboratory data from 1,782 patients with MS during their first hospitalization at the MS Center of The Third People's Hospital of Henan Province between 2023 and 2025. A total of 66 clinical and laboratory indicators were included. An interpretable clustering analysis framework was applied to perform a series of pipeline analyses, including imputation, dimensionality reduction, outlier removal, and clustering. Next, feature importance was assessed. A multi-class classification model was then constructed and evaluated using XGBoost. Finally, the Shapley Additive exPlanations(SHAP) algorithm was employed to interpret the contribution of each feature. The preprocessing pipeline effectively imputed missing values (ranging from 0.06% to 14.14%) and removed outliers. Unsupervised clustering analysis revealed three heterogeneous subtypes of MS. A total of 23 important features were selected to construct a multi-class XGBoost classification model. The model demonstrated excellent performance, with a macro-average AUC of 0.9790 and an Obuchowski index of 0.9784. The SHAP analysis further elucidated the unique hematological and biochemical metabolic characteristics of each subtype. This study establishes a novel, data-driven subtyping system for MS based on objective blood and metabolic profiles. The three identified subtypes display distinct immune-metabolic signatures: a hypercoagulable-inflammatory profile, a metabolic-excess profile with impaired vascular protection, and a frailty-associated antioxidant-deficient profile. These peripheral biomarker patterns suggest testable hypotheses regarding neuroimmune mechanisms-including fibrinogen-driven microglial activation, oxidized lipid-mediated blood-brain barrier disruption, and uric acid-dependent antioxidant depletion-that may contribute to the pathophysiology of different MS subtypes. This framework may inform future prospective investigations into precision medicine approaches for MS, though substantial validation is required before clinical translation.
2026-07-28 | A Case of Meige Syndrome in a Pediatric Patient With Schizophrenia.
Long-term treatment with multiple antipsychotic medications for schizophrenia may increase the risk of developing tardive dystonia, including Meige syndrome. Although clozapine has been suggested as a way of improving dystonia symptoms, there is no established consensus regarding its use in pediatric patients with treatment-resistant schizophrenia, and careful consideration is required. A 12-year-old boy with schizophrenia experienced blepharospasm and oromandibular twitching while undergoing treatment with multiple antipsychotic medications. We stopped giving him the same medications that had been used during his previous hospitalizations (risperidone, olanzapine, aripiprazole, lurasidone, and paliperidone, paliperidone palmitate (a long-acting injectable), asenapine, and blonanserin). We then started giving him clozapine, gradually increasing the dose to 125 mg. Following this treatment intervention, the dystonic symptoms resolved completely, and the psychiatric symptoms stabilized.
2026-05-25 | Intervention effects of different brands of botulinum toxin type A on Meige syndrome with anxiety symptoms.
Patients with Meige syndrome are often affected by anxiety symptoms, and drug therapy is the primary treatment option, with botulinum toxin A being the most frequently used medication. This study analyzes the intervention effects of different brands of botulinum toxin A on Meige syndrome with anxiety symptoms. The findings aim to provide a theoretical basis for the rational selection of clinical treatment options. A retrospective analysis was conducted on 148 patients treated between January 2021 and December 2023. Patients were divided into two groups based on the BoNT-A brand received: Chinese botulinum toxin type A (Hengli) group (n = 80) and onabotulinumtoxinA (Botox) group (n = 68). Both groups received local injections at the sites of muscle spasms. The outcomes included the degree of spasm relief, duration of efficacy, scores on the Self-Rating Anxiety Scale (SAS) and Self-Rating Depression Scale (SDS), polysomnography parameters [sleep efficiency (SE), total sleep time (TST), sleep latency (SL), number of wakefulness (AI), rapid eye movement sleep time (REMS)], and adverse reactions. There were no statistically significant differences in the total remission rate and efficacy maintenance time between the two groups (p > 0.05). The differences in the scores of the SAS, SDS, SE, TST, SL, AI, and REMS before and after treatment between the two groups were not statistically significant (p > 0.05). There was no statistically significant difference between the two groups when comparing the incidence of adverse reactions such as incomplete eyelid closure, facial muscle weakness, and drooping of the corners of the mouth during expression muscle activity (p > 0.05). Local injection of botulinum toxin type A is a safe and effective treatment for Meige syndrome with anxiety symptoms, and there is no significant difference in the efficacy, duration of action, and improvements in psychological state and sleep quality between different brands of botulinum toxin type A. Therefore, clinical practice should be based on practical considerations to reasonably select the appropriate brand of botulinum toxin type A for treatment.
2026-05-01 | Subthalamic nucleus deep brain stimulation in Meige syndrome: mapping the optimal stimulation sites and network targets.
The aim of this study was to identify the optimal stimulation sites for subthalamic nucleus (STN) deep brain stimulation (DBS) in treating Meige syndrome using long-term follow-up data from a large sample cohort, evaluate the whole-brain functional connectivity patterns associated with favorable treatment responses, and validate these findings in an independent cohort. The authors retrospectively analyzed long-term outcomes in 65 patients with Meige syndrome who underwent bilateral STN-DBS in two centers. The local stimulation effects within the STN and the distributed functional connectivity associated with motor improvement were investigated using advanced imaging and modeling tools, including the Lead-Group Toolbox, DBS Sweet Spot Mapping Explorers, and DBS Network Mapping Explorers. To ensure the model's reliability and generalizability, both internal validation through multiple cross-validation strategies and external validation using independent cohorts were conducted. STN-DBS yielded significant and sustained motor improvements in both cohorts, with mean Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) movement score reductions of 63% in the training cohort (n = 50) and 56% in the validation cohort (n = 15) (p < 0.001). At the local level, the optimal stimulation sites were consistently located in the dorsolateral sensorimotor subregion of the STN, extending bilaterally toward the associative subregion and centered at MNI coordinates x = ±12, y = -13, z = -6. At the network level, favorable outcomes were primarily associated with positive functional connectivity to the cerebellum and negative connectivity to the somatosensory cortex. Both the sweet spot and connectivity models developed using the training cohort showed significant correlations with clinical outcomes in the independent validation cohort (R = 0.59, p = 0.020; R = 0.74, p = 0.002, respectively) and remained robust across different cross-validation strategies. The optimal therapeutic efficacy of STN-DBS for Meige syndrome depends on precise targeting within the dorsolateral STN and modulation of a distributed functional network involving the cerebellum and sensorimotor cortex. These findings may aid in developing personalized targeting strategies and adaptive programming paradigms, ultimately improving the therapeutic efficacy of DBS in this challenging disorder.
2026-02-09 | Case Report: Effective management of a Meige syndrome patient with subthalamic stimulation-induced dyskinesia through timed stimulation programming of different contacts.
Meige syndrome is a rare adult-onset segmental dystonia characterized by blepharospasms and oromandibular dystonia. Deep brain stimulation (DBS) of the subthalamic nucleus (STN) is an established treatment, but it can lead to stimulation-induced dyskinesia (SID) in some patients. Refractory SID in Meige syndrome after STN-DBS is clinically challenging. We report a case of a Meige syndrome patient who developed refractory SID following STN-DBS and was successfully managed using a novel timed-stimulation programming strategy employing different contacts. A 47-year-old female with a two-year history of Meige syndrome developed refractory SID after the treatment of STN-DBS. Various programming strategies were attempted, including monopolar stimulation, interleaved stimulation, bipolar stimulation et al., but none achieved a balance between symptom control and SID. A novel approach involving timed alternation between ventral contacts (contacts 3 and 7) and dorsal contacts (contacts 4 and 8) was implemented. The stimulation was gradually programmed, the duration of ventral stimulation was increased while decreasing dorsal stimulation. Eventually, the patient achieved significant symptom improvement without SID. The reconstruction of the volume of tissue activated (VTA) revealed that this stimulation strategy likely modulates the neural circuits of pallidothalamic fibers (PTF) to suppress SID. This case demonstrates that this noval timed stimulation programming can effectively manage refractory SID in Meige syndrome patients, offering a viable alternative when conventional methods fail. The findings suggest that PTF stimulation plays a key role in SID suppression, and this strategy warrants further investigation in larger cohorts.
Access all drug discovery papers and probability of success in trials forecasts:
Access all drug discovery papers and probability of success in trials forecasts:
Drug Discovery Landscape
2 orphan drug designations for Blepharospasm-oromandibular dystonia syndrome.
2 orphan drug designations for Blepharospasm-oromandibular dystonia syndrome.
Drug | Therapy type | Regulator | Orphan designation | Approval | Sponsor |
|---|---|---|---|---|---|
Botulinum toxin type A | proteins | FDA | 1991-12-05 | — | Ipsen Biopharmaceuticals, Inc. |
Botulinum toxin type A | proteins | FDA | 1989-03-23 | — | Porton International, Inc. |
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