A Novel Homozygous Variant in the MCOLN1 Gene Associated With Severe Oromandibular Dystonia and Parkinsonism.

BACKGROUND: Mucolipidosis type IV (MLIV) is a rare, progressive lysosomal storage disorder characterized by severe intellectual disability, delayed motor milestones and ophthalmologic abnormalities. MLIV is an autosomal recessive disease caused by mutations in the MCOLN1 gene, encoding mucolipin-1 which is responsible for maintaining lysosomal function. OBJECTIVES AND METHODS: Here, we report a family of four Iranian siblings with cognitive decline, progressive visual and pyramidal disturbances, and abnormal movements manifested by severe oromandibular dystonia and parkinsonism. MRI scans of the brain demonstrated signal abnormalities in the white matter and thinning of the corpus callosum. RESULTS AND CONCLUSIONS: Whole-exome sequencing identified a novel homozygous variant, c.362C > T:p. Thr121Met in the MCOLN1 gene consistent with a diagnosis of MLIV. The presentation of MLIV may overlap with a variety of other neurological diseases, and genetic analysis is an important strategy to clarify the diagnosis. This is an important point that clinicians should be familiar with. The novel variant c.362C > T:p. Thr121Met herein described may be related to a comparatively older age at onset. Our study also expands the clinical spectrum of MLIV associated with the MCOLN1 variants and introduces a novel likely pathogenic variant for testing in MLIV cases that remain unresolved.

Oromandibular dystonia: from onset to spread a multicenter italian study.

BACKGROUND: Detailed information about the epidemiological and phenomenological differences among the aetiological subtypes of oromandibular dystonia (OMD) is lacking. Moreover, the OMD tendency to spread to other body sites has never been investigated. AIM: To compare the main demographic and clinical features of OMD in different aetiological groups and assess the risk of spread. MATERIALS AND METHODS: We retrospectively analysed data from patients contained in the Italian Dystonia Registry. The risk of spread was assessed by Kaplan Meyer curves and Cox regression analysis. RESULTS: The study included 273 patients (175 women) aged 55.7 years (SD 12.7) at OMD onset. Female predominance was observed. Idiopathic dystonia was diagnosed in 241 patients, acquired dystonia in 22. In 50/273 patients, dystonia started in the oromandibular region (focal OMD onset); in 96/273 patients the onset involved the oromandibular region and a neighbouring body site (segmental/multifocal OMD onset); and in 127/273 patients OMD was a site of spread from another body region. Sensory trick (ST) and positive family history predominated in the idiopathic group. No dystonia spread was detected in the acquired group, whereas spread mostly occurred within the first five years of history in 34% of the focal OMD onset idiopathic patients. Cox regression analysis revealed ST as a significant predictor of spread (HR, 12.1; 95% CI, 2.5 - 18.8; P = 0.002). CONCLUSION: This large study provides novel information about the clinical phenomenology of idiopathic and acquired OMD. We pointed out a possible role of oestrogens in favouring dystonia development. Moreover, we described for the first time the association between ST and dystonia spread, revealing possible common pathophysiological mechanisms. Our findings may be suggested as a referral point for future pathophysiological and therapeutic studies on OMD.

Genetic Update and Treatment for Dystonia.

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.

Outcome of pallidal deep brain stimulation for treating isolated orofacial dystonia.

BACKGROUND: Isolated orofacial dystonia is a rare segmental neurological disorder that affects the eye, mouth, face, and jaws. Current literature on pallidal surgery for orofacial dystonia is limited to case reports and small-scale studies. This study was to investigate clinical outcomes of deep brain stimulation (DBS) of the globus pallidus internus (GPi) in patients with isolated orofacial dystonia. METHODS: Thirty-six patients who underwent GPi DBS at Incheon St. Mary's Hospital, The Catholic University of Korea, between 2014 and 2019 were included in this study. Burke-Fahn-Marsden Dystonia Rating Scale, Unified Dystonia Rating Scale, and Global Dystonia Severity Rating Scale were retrospectively retrieved for analysis before surgery, at 6-month follow-up as short-term outcome, and at follow-up over 1 year (12 months to 69 months) as long-term results. RESULTS: Mean total BFMDRS-M scores at the three time points (baseline, 6 months, and over 1 year follow-up) were 11.6 ± 4.9, 6.1 ± 5.2 (50.3 ± 29.9% improvement, p < 0.05), and 4.3 ± 4.2 (65.0 ± 24.2% improvement, p < 0.05), respectively. In terms of UDRS and GDS, improvement rates were 45.1% (p < 0.001) and 47.7% (p < 0.001) at 6 months, and 63.8% (p < 0.001) and 65.7% (p < 0.001) at over 1 year after surgery, respectively. CONCLUSIONS: Bilateral GPi DBS in isolated orofacial dystonia can be effective if conservative treatment option fails. Its benefit is not only observed in a short term, but also maintained in a long-term follow-up.

Atypical Blepharospasm with Oromandibular Dystonia Associated with Cerebral Amyloid Angiopathy.

A case of atypical blepharospasm with oromandibular dystonia is presented in a patient found to have cerebral amyloid angiopathy on magnetic resonance imaging and a shared mechanism is discussed.

Prevalence and incidence of oromandibular dystonia: an oral and maxillofacial surgery service-based study.

OBJECTIVES: Oromandibular dystonia is a focal dystonia characterized by sustained or intermittent contractions of the masticatory and/or tongue muscles. This epidemiological study aimed to estimate the prevalence and incidence of oromandibular dystonia in Kyoto (population: 1,465,701). MATERIALS AND METHODS: The population sample was citizens of Kyoto who visited our department between 2015 and 2019 and were differentially diagnosed by an oromandibular dystonia specialist having idiopathic (primary) and acquired (secondary) oromandibular dystonia. A total of 144 patients (100 women and 44 men; mean age, 57.5 years) were analyzed for clinical features, and the prevalence (prevalence date, January 1, 2020) and annual incidence were estimated. RESULTS: The male-to-female ratio was 1:2.3 (p<0.001). Age at onset was significantly (p<0.01) earlier in men (47.5 years) than that in women (56.9 years). The crude prevalence of oromandibular dystonia was estimated at 9.8 per 100,000 persons (95% confidence interval: 8.3-11.6) (idiopathic dystonia, 5.7 [4.6-7.1]; tardive dystonia, 3.4 [2.5-4.5]) and incidence at 2.0 (1.3-2.8) per 100,000 person-years (idiopathic dystonia, 1.2 [0.68-1.9], tardive dystonia, 0.68 [0.32-1.3]). The prevalence was 13.0 (10.5-15.8) in women and 6.3 (4.6-8.5) in men. All age groups showed female predominance. The highest prevalence was 23.6 (14.4-36.5) in women aged 60-69 years. CONCLUSIONS: As this is an oral and maxillofacial surgery service-based study, the actual prevalence of oromandibular dystonia may be even higher. CLINICAL RELEVANCE: It was suggested that oromandibular dystonia might be more common than cervical dystonia or blepharospasm.

Temporomandibular disorder-related characteristics and treatment outcomes in Oromandibular Dystonia patients in two different clinical settings: A cross-sectional study.

INTRODUCTION: Clinical presentation of oromandibular dystonia (OMD) is variable that can be further complicated by the presence of temporomandibular disorder (TMD) symptoms. We sought to evaluate variations in the clinical presentation of OMD patients, particularly TMD-related characteristics, in two clinical settings. METHODS: In a cross-sectional study design, a Web-based data collection survey was provided to eligible patients with OMD from movement disorder (MD) and oro-facial pain (OFP) clinics. The survey questionnaire was designed to collect information on demographic characteristics, clinical presentation particularly related to TMD, quality of life and treatment outcomes. Validated questionnaires were used when available such as the TMD Pain Screener, EuroQol 5-Dimensions 5-Levels (EQ-5D-5L), Jaw Functional Limitation Scale and Global Rating of Change Scale. RESULTS: Of 53 eligible patients, 31 responded to the survey for a 58% response rate. Forty-eight per cent of patients in the MD clinic and 60% of patients in the OFP clinic reported jaw pain along with involuntary movements. Of those, 90% from the MD group and 83% from the OFP group screened positive with the TMD Pain Screener at the onset of symptoms based on recall. Positive TMD Pain Screener response was observed in about 40% of patients in both clinics within 30 days of questionnaire response. No statistically significant differences were observed between two groups for any measured variables. CONCLUSION: Patients with OMD have features of TMD, irrespective of the clinical setting in which they seek and receive care. OMD patients from both clinics were similar in terms of clinical presentation, quality of life and treatment outcomes.

Munchausen syndrome: report of a case and implications for dentists.

Munchausen syndrome (MunS), or factitious disorder imposed on self, is an exceedingly rare and immensely difficult syndrome to identify and manage and is considered a diagnosis of exclusion. Few reports exist in the dental literature to date, so the objective of this article is to describe a case of MunS in a 60-year-old woman who sought treatment for bilateral jaw pain and uncontrolled jaw movements. The patient's symptoms started 19 months previously, following placement of a 6-unit metal-ceramic bridge. Her pain started as a mild, intermittent ache that lasted for 30 minutes. However, gradually her symptoms became severe and constant. In addition, she started to experience episodes of uncontrolled jaw contractions that were associated with bilateral episodes of stabbing and shooting pain. Results from her comprehensive clinical assessment and investigations suggested that the patient had masticatory myalgia pain disorder and oromandibular dystonia. She experienced significant relief of symptoms with pharmacologic intervention. However, after an intermittent period of relief, she returned to the clinic with an inconsistent history, irregular clinical examination, and history of erratic behavior. The patient was referred to a psychiatrist, who eventually rendered a diagnosis of MunS. This article will also address considerations for the dental team, including how to identify cases of MunS, relevant courses of action, including appropriate referral, and the consequences of overdiagnosis of MunS.

Botulinum neurotoxin a therapy efficacy and safety for oromandibular dystonia: a meta-analysis.

Oromandibular dystonia (OMD) is a focal dystonia involving the mouth, jaw, and tongue. Botulinum neurotoxin (BoNT) therapy might be one form of treatment in OMD. Systematic pooling of BoNT studies in OMD remains wanting, as the derived data could provide useful information in regard to efficacy and safety issues. This meta-analysis determined the effects of botulinum neurotoxin type A (BoNT/A) on the reduction of dystonic movement and its safety among patients with OMD. A systematic search of the literature that met the following eligibility criteria were done: (1) patients treated with BoNT/A for OMD, (2) studies of high methodological quality and (3) outcome criteria specified as regard to efficacy. Risk of unresolved dystonia was computed before and after BoNT/A intervention. Random effect size (p < 0.05ɑ) and test of heterogeneity (< I2 50%) were computed as meta-analysis tool using REVMAN ver 5.3 program. Safety data, where available, were systematically reviewed. Nine studies involved 387 cases in total of OMD. The pooled risk ratio is 0.607 with a confidence interval of 0.371-0.783, a z value of 3.85, and a p value of 0.0001. Results indicate that risk of dystonic movements is lower by 39.30% in the treatment group than in the control group. A total of 105/387 patients (27.1%) experienced adverse events most commonly dysphagia. Whilst cited literatures have inherent weaknesses, results show that BoNT/A is efficacious in reducing dystonic movements of patients with OMD. Majority of studies employed electromyography (EMG) guidance in muscle targeting. Given the potential adverse event of dysphagia, one may take a cautious stand while delivering injections to target muscles. These findings are congruent with what has been published in regard to efficacy of BoNT/A in focal dystonia.

Oromandibular dystonia screening questionnaire for differential diagnosis.

OBJECTIVES: Oromandibular dystonia, which is characterized by stereotypic, task-specific, or sustained contractions of masticatory and/or lingual muscles, is frequently misdiagnosed as temporomandibular disorders or psychogenic disease. Diagnostic delay in oromandibular dystonia is not acceptable; thus, a screening tool that can distinguish this condition from a temporomandibular disorder may be helpful for medical professionals unfamiliar with involuntary movements or temporomandibular disorders. MATERIALS AND METHODS: A questionnaire that included questions on the clinical features of oromandibular dystonia, such as stereotypy, task-specificity, sensory tricks, and morning benefit, and included questions to rule out temporomandibular disorders (total point range 0-40) was administered to 553 patients suspected to have involuntary movements. RESULTS: Based on a careful examination and the differential diagnosis, the patients were divided into four groups: oromandibular dystonia (n = 385), oral dyskinesia (n = 84), psychogenic (functional) movement disorder (n = 50), and temporomandibular disorders (n = 34). The questionnaire had a high level of internal consistency as measured by the Cronbach's α (0.91), and item-total correlation was significant (p < 0.001). The test-retest reliability on two separate occasions showed a significant correlation (p < 0.001). Mean total scores of the questionnaire significantly differed among oromandibular dystonia (32.0), temporomandibular disorders (10.4; one-way analysis of variance, p < 0.001), oral dyskinesia (21.0; p < 0.001), and psychogenic (functional) movement disorder (13.7; p < 0.001). CONCLUSIONS: Findings of this study suggest that the present questionnaire is a simple diagnostic tool that is useful for tentative differentiation of oromandibular dystonia from temporomandibular disorders. CLINICAL RELEVANCE: This screening tool can be used to distinguish oromandibular dystonia from temporomandibular disorders.

Oromandibular dystonia, mental distress and oro-facial dysfunction-A follow-up 8-10 years after start of treatment with botulinum toxin.

BACKGROUND: Oromandibular dystonia (OMD) with involuntary jaw and tongue movements may be misdiagnosed as temporomandibular disorders (TMD) and because of the complex muscle activity and involvement of several small muscles, OMD is also considered difficult to treat. OBJECTIVES: The aim was to evaluate OMD in patients 8-10 years after start of treatment with botulinum toxin (BoNT) by self-reported and standardised global scales and questionnaires. METHODS: Of 21 previously reported patients with OMD, 14 responded to a mail health questionnaire to describe the disease course and treatment effect as well as the overall impact of OMD by a visual analogue scale (VAS), the Patient Health Questionnaire (PHQ) for depression and anxiety, and the Jaw Functional Limitation Scale (JFLS). The results were analysed with non-parametric statistical analysis (Wilcoxon matched-pairs test and Spearman's rank-order correlations). RESULTS: The OMD was still present in 13 patients. In nine patients, the BoNT treatment had continued as monotherapy or combined with oral medication. VAS for OMD was significantly reduced (P < 0.04) over the years, and most patients felt improvement from the treatment. However, the patients had still some functional limitations, typically regarding jaw mobility and communication, and both JFLS and mental distress (PHQ) were significantly correlated with the OMD VAS (rS 0.77 and 0.74). CONCLUSION: The results showed marked reduction of the experienced OMD with treatment and over time, and also stressed similarities between OMD and TMD. Both dentists and neurologists should be aware of this overlap and reduce misdiagnosis by applying an interdisciplinary approach.

Levofloxacin-Induced Oromandibular Dystonia in a 9-Year-Old Patient.

Extrapyramidal symptoms (EPS) that include akathisia, dystonia, pseudoparkinsonism, and dyskinesia are abnormal movements commonly induced by antipsychotic medications. These symptoms are also associated with specific non-antipsychotic agents. This case report describes a case of a 9-year-old boy on antibiotics treatment that developed EPS. A 9-year-old boy presented to the emergency department of Imam Hossein Children>s Hospital with chief complaints of trismus, difficulty speaking, and tongue protrusion. One week before these presentations, he had been prescribed Tavanex® (levofloxacin) and clindamycin. His symptoms improved after the withdrawal of antibiotics and administering Biperiden, and he was discharged in good condition. On a follow-up visit one week after discharge, no remaining symptoms were present, and he was in good condition. Based on the questions in the Naranjo criteria, levofloxacin receives a score of 7 and is a probable cause of adverse drug reaction (ADR). Clindamycin, with a score of 6, is also a probable cause for this adverse drug reaction, but clinical judgment was in favor of levofloxacin as the culprit. Clinicians should be aware of the potential EPS of levofloxacin at standard doses. Effective management of adverse events is necessary to ensure patient safety and optimal outcomes.

Treatment of oromandibular dystonia with botulinum toxin A improves apnea in a teenager with quadriplegic cerebral palsy: A case report.

This report describes a 15-year-old female with known spastic and dystonic quadriplegic cerebral palsy (CP), Gross Motor Function Classification System IV, and obstructive sleep apnea (OSA). She experienced decreased apneic episodes after receiving onabotulinumtoxin A (BoNT-A) injections for the treatment of oromandibular dystonia (OMD). After her OSA diagnosis, she initially received injections to the bilateral masseter and temporalis muscles with no effect on the frequency of nightly apneic episodes. Subsequently, the bilateral lateral pterygoid muscles were added and she was later noted to have fewer apneic episodes overnight. This case report describes the use of BoNT-A in the muscles of mastication for management of OMD and the ensuing improvement in OSA in a teenager with CP.

Efficacy of the Hegab temporomandibular joint splint in treating patients diagnosed with dystonia with or without systemic involvement: A report of 14 cases.

Dystonia is a neurological motor disorder characterised by involuntary and uncontrollable muscle contractions, tension, twisting, and tremors. The aim of the present study was to analyse the improvement in dystonic contractions in patients with dystonia following the use of a Hegab temporomandibular joint splint (HTS). The Fahn-Marsden Dystonia Movement Scale (DMS) and Disability Scale were used in the current study to evaluate dystonia. An HTS with a thickness ranging from 4 to 6 mm was used to treat the patients enrolled in the study. The final sample comprised 14 patients (10 female and four male) with mean (range) ages of 35.64 (18 to 55) years. Pre-treatment DMS ranged from 6.5 to 57 mean (SD) 18.21 (13.38). At the end of the study, DMS ranged from 0 to 15 mean (SD) 3.14 (3.86). Statistical analysis of the differences between pre-treatment and post-treatment DMS showed a significant decrease in DMS at the end of the treatment period (p = 0.0001). Regarding the disability scale, pre-treatment disability scale ranged from 7 to 18 mean (SD) 9.46 (3.02). At the end of the study, DMS ranged from 0 to 3 mean (SD) 1.46 (1.13). There was a statistically highly significant decrease in the Disability Scale at the end of the treatment period (p value ≤ 0.0001). This study suggests that the HTS can be considered an effective treatment modality for dystonia, as it significantly decreases both the DMS and the Disability scale.

Concurrent glossopharyngeal neuralgia and oromandibular dystonia resolved after microvascular decompression of the trigeminal and glossopharyngeal nerve: A rare presentation.

Background: This type of pain syndrome occurs suddenly and briefly, beginning unilaterally from one side of the face. Modestly stimulating speech can provoke it, affecting the ear, tongue, throat, and jaw angle. Interestingly, it is the sensory distribution of the auricular and the pharyngeal branches of the cranial nerves IX and X. People have not had a confirmed case of glossopharyngeal neuralgia (GPN), along with oromandibular dystonia (OMD). Nevertheless, usually in the medical literature, this case report supplies information about a patient who has concurrent GPN and OMD. Case Description: A 36-year-old male patient presented with a history of sudden onset of increasing electric pains, which were centered in the middle of the forehead to the depth of the throat and accompanied by uncontrolled movements, repetitive tongue protrusions, jaw movements, and recurrent pervasive gagging reflexes. Magnetic resonance imaging showed that a vascular loop of the superior cerebellar and anterior inferior cerebellar artery on the left side had crossed over and compressed those nerves. Decompression surgery in the left glossopharyngeal and trigeminal nerves cured all the symptoms. Conclusion: The simultaneous occurrence of GPN and OMD is rare, complex, and challenging from the clinician's viewpoint in the management of similar but different pathologies. A detailed history was taken, and a radiological investigation was called to devise a management plan in the context of understanding the pathology of both disorders.

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.

Movement disorders of the stomatognathic system: A blind spot between dentistry and medicine.

Movement disorders of the stomatognathic system include oromandibular dystonia (OMD), oral dyskinesia, sleep/awake bruxism, functional (psychogenic) stomatognathic movement disorders (FSMDs), tremors, and hemimasticatory spasm (HMS). Most patients first consult dentists or oral surgeons. The differential diagnoses of these involuntary movements require both neurological and dental knowledge and experience, and some of these movement disorders are likely to be diagnosed as bruxism or temporomandibular disorders (TMDs) by dental professionals. However, excepting movement disorder specialists, neurologists may find it difficult to differentially diagnose these disorders. Patients may visit numerous medical and dental specialties for several years until a diagnosis is made. Therefore, movement disorders of the oral region may represent a blind spot between dentistry and medicine.The present narrative review aimed to describe the clinical characteristics and differential diagnoses of some movement disorders, as well as the problems bridging dentistry and medicine. Movement disorders have the following characteristic clinical features: OMD - task specificity, sensory tricks and the morning benefit; FSMDs - inconsistent and incongruous symptoms, spreading to multiple sites and the lack of sensory tricks; and HMS - the paroxysmal contraction of unilateral jaw-closing muscles, the persistence of symptoms during sleep and the loss of a silent period. A careful differential diagnosis is essential for the adequate and effective treatment of each involuntary movement. Refining the latest definition of bruxism may be necessary to prevent the misdiagnosis of involuntary movements as bruxism.Both dental and medical professionals should take an interest in the movement disorders of the stomatognathic system, and these disorders should be diagnosed and treated by a multidisciplinary team.

Progressive thalamic nuclear atrophy in blepharospasm and blepharospasm-oromandibular dystonia.

The thalamus is considered a key region in the neuromechanisms of blepharospasm. However, previous studies considered it as a single, homogeneous structure, disregarding potentially useful information about distinct thalamic nuclei. Herein, we aimed to examine (i) whether grey matter volume differs across thalamic subregions/nuclei in patients with blepharospasm and blepharospasm-oromandibular dystonia; (ii) causal relationships among abnormal thalamic nuclei; and (iii) whether these abnormal features can be used as neuroimaging biomarkers to distinguish patients with blepharospasm from blepharospasm-oromandibular dystonia and those with dystonia from healthy controls. Structural MRI data were collected from 56 patients with blepharospasm, 20 with blepharospasm-oromandibular dystonia and 58 healthy controls. Differences in thalamic nuclei volumes between groups and their relationships to clinical information were analysed in patients with dystonia. Granger causality analysis was employed to explore the causal effects among abnormal thalamic nuclei. Support vector machines were used to test whether these abnormal features could distinguish patients with different forms of dystonia and those with dystonia from healthy controls. Compared with healthy controls, patients with blepharospasm exhibited reduced grey matter volume in the lateral geniculate and pulvinar inferior nuclei, whereas those with blepharospasm-oromandibular dystonia showed decreased grey matter volume in the ventral anterior and ventral lateral anterior nuclei. Atrophy in the pulvinar inferior nucleus in blepharospasm patients and in the ventral lateral anterior nucleus in blepharospasm-oromandibular dystonia patients was negatively correlated with clinical severity and disease duration, respectively. The proposed machine learning scheme yielded a high accuracy in distinguishing blepharospasm patients from healthy controls (accuracy: 0.89), blepharospasm-oromandibular dystonia patients from healthy controls (accuracy: 0.82) and blepharospasm from blepharospasm-oromandibular dystonia patients (accuracy: 0.94). Most importantly, Granger causality analysis revealed that a progressive driving pathway from pulvinar inferior nuclear atrophy extends to lateral geniculate nuclear atrophy and then to ventral lateral anterior nuclear atrophy with increasing clinical severity in patients with blepharospasm. These findings suggest that the pulvinar inferior nucleus in the thalamus is the focal origin of blepharospasm, extending to pulvinar inferior nuclear atrophy and subsequently extending to the ventral lateral anterior nucleus causing involuntary lower facial and masticatory movements known as blepharospasm-oromandibular dystonia. Moreover, our results also provide potential targets for neuromodulation especially deep brain stimulation in patients with blepharospasm and blepharospasm-oromandibular dystonia.

A Presentation of Meige Syndrome With Associated Upper Motor Neuron Symptoms.

Meige syndrome (MS) is a cranial dystonia that involves blepharospasm and oromandibular dystonia. It can also evolve to include other adjacent muscle groups in the cervical region. It typically presents in middle-aged females, and while the disorder is relatively uncommon, its exact prevalence varies. Diagnosis is typically made with a thorough history and physical and workup to rule out other causes. Treatment options include medical management with gamma-aminobutyric acid (GABA) antagonists, dopamine antagonists, and anticholinergics for short-term management. Long-term treatment options are Botox and deep brain stimulation. This case report presents a 56-year-old female with a complex presentation of MS; the patient's symptoms progressed from isolated blepharospasms to involve orofacial and cervical musculature. A distinctive aspect of this case was the simultaneous presence of upper motor neuron (UMN) signs in the patient alongside acute to subacute compression fractures of the superior endplate of C7 and T3, as revealed by cervical spine imaging. Treatment with clonazepam led to significant symptomatic improvement, highlighting the importance of a multimodal approach in managing MS. This case underscores the need for careful clinical evaluation, collaboration with movement disorder specialists, and ongoing research efforts to enhance understanding and treatment of MS.