Blepharospasm-oromandibular Dystonia Research Articles

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.

The efficacy and safety of nerve loop blocking in the treatment of blepharospasm in Meige syndrome

Objective: To evaluate the efficacy and safety of nerve loop blocking in the treatment of blepharospasm caused by Meige syndrome. Methods: It was a retrospective case series study. Patients with Meige syndrome characterized by blepharospasm or blepharospasm-oromandibular dystonia who underwent nerve loop blocking in the Ophthalmology Department of Henan No. 3 Provincial People's Hospital from April 2018 to January 2020 were included. Before and after surgery, blepharospasm was graded, and the Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) was used to score the symptoms of ocular and oral dystonia. The improvement rate of ocular spasm was calculated after surgery according to the scores. The postoperative complications were observed. The Wilcoxon rank test was used to compare the BFMDRS movement subscale scores before and after surgery. The independent sample Mann-Whitney U test was used to compare the improvement rates of eye spasm between male and female patients and between patients with and without combined oromandibular dystonia. Results: Among the 199 patients included, 64 (32.2%) were males, and 135 (67.8%) were females, aged 58 (51, 64) years (22-79 years). The postoperative follow-up period was 24 (21, 28) months. Preoperatively, blepharospasm was graded as grade 3 in 12 patients (6.0%) and grade 4 in 187 patients (94.0%), while the postoperative blepharospasm grades were grade 0 in 100 patients (50.3%), grade 1 in 64 patients (32.2%), grade 2 in 31 patients (15.6%), and grade 3 in 4 patients (2.0%). There was statistically significant difference in the BFMDRS scores of ocular dystonia before and after surgery [8.0 (8.0, 8.0) vs. 0.0 (0.0, 1.0); Z=-12.41, P<0.001]. The improvement rate of blepharospasm in all patients was 100% (87.5%, 100%), ranging from 43.8% to 100%, with no statistically significant difference between patients of different genders and between patients with and without combined oral dystonia (both P>0.05). Statistically significant difference existed in the scores of oral dystonia before and after surgery [2.0 (0.5, 4.5) vs. 1.0 (0.5, 2.0); Z=-4.38, P<0.001], with 25 of 65 patients (38.5%) having their oral symptoms improved. Postoperative complications included eyelid valgus (7.5%, 15/199), frontal numbness (100%, 199/199) and tearing (89.9%, 179/199). Conclusion: Nerve loop blocking is a relatively safe and effective method in the treatment of blepharospasm symptoms of Meige syndrome.

Mental health and quality of life in patients with craniofacial movement disorders: A cross-sectional study

BackgroundFacial appearance and expressions influence social interaction. Hemifacial spasm (HFS), blepharospasm (BPS), and blepharospasm-oromandibular dystonia (BOD) are common forms of craniofacial movement disorders. Few studies have focused on the mental burden and quality of life (QoL) in patients with craniofacial movement disorders. Therefore, this study investigated mental health and QoL in these patients.MethodsThis cross-sectional study included 90 patients with craniofacial movement disorders (HFS, BPS, and BOD; 30 patients per group) and 30 healthy individuals without craniofacial movement disorders (control group) recruited from October 2019 to November 2020. All participants underwent QoL and mental health evaluations for depression, anxiety, and stigma using the 36-item Short Form Health Survey (SF-36), Hamilton Anxiety Rating Scale (HAMA), Hamilton Rating Scale for Depression-24 (HAMD-24) and a questionnaire related to stigma.ResultsDepression was diagnosed in 37 (41.11%) patients, whereas 30 patients (33.33%) had anxiety. HAMA scores were significantly higher in the BPS and BOD groups than in the control group. Nineteen patients (21.11%) experienced stigma and SF-36 scores were lower in various dimensions in the movement disorders groups compared to healthy controls. The role-physical and social function scores were significantly lower in the movement disorders groups than in the control group all p < 0.05. The vitality scores of the BPS group and mental health scores of the BPS and BOD groups were significantly lower than those of the control group. Correlation analysis showed that the eight dimensions of SF-36 correlated with education level, disease duration, HAMD score, and HAMA score (all p < 0.05). Regression analysis demonstrated that the HAMD score correlated with general health, vitality, social function, role-emotional, and mental health (all p < 0.05). The HAMA score correlated with body pain after adjusting for education level and disease duration.ConclusionThis study highlights the significant frequency of mental symptoms, including depression, anxiety, and stigma, which lower QoL in patients with craniofacial movement disorders.

Diffusion tensor imaging in blepharospasm and blepharospasm-oromandibular dystonia.

Patterns of white matter (WM) abnormalities and correlation with clinical features in patients with blepharospasm (BSP) and patients with blepharospasm-oromandibular dystonia (BOM) remain unknown. Using voxel-based analysis, diffusion behaviors of WM including fractional anisotropy (FA), mean diffusivity (MD) and eigenvalues were compared between 20 BSP patients vs. 11 healthy controls (HCs) and 11 patients with BOM vs. 11 HCs. Correlation analyses were performed to assess possible association between diffusion behaviors of significantly different areas and clinical measures. Compared with HCs, BSP patients showed significant FA reductions in the left anterior lobe of cerebellum. Significant increases of MD and radial diffusivity (RD) were detected in right lentiform nucleus and thalamus. Significantly decreased FA in the right precuneus of parietal lobe, increased MD in the right lentiform nucleus and insula, and increased axial diffusivity in the right insula were observed in BOM patients. The FA values in the WM of left cerebellum negatively correlated with disease severity in BSP patients measured by JRS (r=-0.655, p=0.002). The FA values in the right parietal WM negatively correlated with disease duration in BOM patients (r=-0.745, p=0.008). Both BSP and BOM are related to microstructural abnormalities of WM in the basal ganglia. WM changes outside the basal ganglia may present trait features that are specific for individual dystonia phenotype. The correlation between FA abnormalities and symptom severity suggests that DTI parameters might be of clinical value in assessing and following disability in BSP patients.

Age at onset as a factor in determining the phenotype of primary torsion dystonia

The genetic basis of most forms of primary torsion dystonia (PTD) is unknown; multiplex families are uncommon due to low penetrance. Intrafamilial, age-related, phenotypic heterogeneity was noted in 14 PTD families. The authors hypothesized that the clinical presentation of PTD was modulated by the age at onset of the dystonia, irrespective of the genotype. This hypothesis was addressed in a study of 14 PTD families and a meta-analysis of 83 published series of PTD. In 12 families with adult-onset PTD, the index cases presented with cervical dystonia (CD); of the 22 affected relatives, 17 had CD, 2 had writer's cramp, 1 had blepharospasm, and 2 had spasmodic dysphonia. In the two other PTD families, the probands and all 10 symptomatic relatives had limb-onset dystonia at <20 years of age. There were differences between the median ages at onset of the different phenotypes (p = 0.0037). Analysis of 83 published series including 5,057 patients indicated significant differences in the mean age at onset of five phenotypes of PTD (mean age at onset; 95% CI): DYT1 dystonia (11.3 years; 10.3 to 12.2), writer's cramp (38.4; 36.9 to 39.9), CD (40.8; 40.3 to 41.3), spasmodic dysphonia (43.0; 42.2 to 43.9), and blepharospasm-oromandibular dystonia (55.7; 55.1 to 56.4). Phenotypic variation in PTD presentation is due to the effect of age at onset modulating the expression of a genetic disorder with a caudal-to-rostral change in the site of onset.

Bilateral pallidal stimulation for blepharospasm–oromandibular dystonia (Meige syndrome)

Deep brain stimulation (DBS) of the globus pallidus internus (GPi) is performed for treatment of medically intractable dystonia, including primary generalized dystonia, myoclonic dystonia, and cervical dystonia.1-3⇓⇓ There is little experience, however, with other focal dystonias. We present long-term follow-up of chronic pallidal DBS in blepharospasm–oromandibular dystonia (Meige syndrome). A 60-year-old woman with medically refractory Meige syndrome had an unremarkable medical history with no exposure to neuroleptic drugs. At age 55, she noted mild spasms of her tongue. She then developed blepharospasm and involuntary contractions of her lower facial muscles. Dystonia improved after local injections of botulinum toxin (BTX) A, which were repeated over 3 years. Then, a gradual loss of efficacy was noted. Medical treatment did not yield satisfactory improvement or was limited by side effects. When seen in our office she presented with blepharospasm–oromandibular dystonia, involuntary movements of her tongue, and difficulty swallowing. She complained about pain of her temporo-mandibular joints. Medication included trihexyphenidyl, tiapride, tetrazepam, zopiclon, and zolpidem. Her sleep quality was poor, …

Idiopathic blepharospasm-oromandibular dystonia syndrome (Meige's syndrome) presenting as chronic temporomandibular joint dislocation

A case of idiopathic blepharospasm-oromandibular dystonia (Meige's syndrome) is reported, presenting as chronic bilateral dislocation of the temporomandibular joints. The nature of the syndrome is discussed, together with the difficulties in diagnosis and management.

Generalized and focal dystonic syndromes: possible therapy with salmon calcitonin.

We report that repeated administration of salmon calcitonin (20-40 micrograms daily for 30 days) improves dystonic symptoms in patients affected by idiopathic torsion dystonia, blepharospasm-oromandibular dystonia syndrome or writer's cramp syndrome. These results support the suggestion that calcitonin may act at central level influencing the extrapyramidal motor system.

Focal cranial dystonia.

In the neurologic literature there has been a growing recognition of a syndrome of focal cranial dystonias referred to variously as blepharospasm-oromandibular dystonia, Brueghel's syndrome, or Meige's syndrome. Typically, this syndrome presents as an isolated and idiopathic dystonia of facial or oromandibular muscles occasionally prompting a referral to a speech pathologist. Our findings in a group of 10 patients with this diagnosis are presented, and the negligible effect of an intensive program of speech management for one subject is described.

Meige??s syndrome during long-term dopaminergic therapy in Parkinson??s disease

The blepharospasm-oromandibular dystonia syndrome was first described by Meige in 1910. 1 He described patients afflicted with preponderantly symmetric dystonic spasms of the facial muscles who also might have dystonic movements involving other midline muscle groups. After the original description of this bizarre and oftentimes disabling movement disorder, little was mentioned in the medical literature until 1972, when reports of isolated oromandibular dystonia 2 and oromandibular dystonia with blepharospasm appeared. 3 Since that time there has been increasing attention paid to this syndrome, including a suggestion that it be termed Brueghel's syndrome, after the Dutch painter who created portraits that captured the distinctive dystonic facial postures seen in this syndrome. 4 Marsden has described the largest series of these patients and has noted that the syndrome is adult onset (usually in the sixth decade), with the initial symptom being either blepharospasm or oromandibular dystonia alone or, most frequently, a combination

The Neuropharmacology of Tardive Dyskinesia, Spontaneous Dyskinesia, and Other Dystonias

Most classifications of movement disorders emphasize their differential diagnosis and epidemiology according to clinical history and neurological examination. This review of movement disorders is organized according to the hypothesis of basal ganglia neurotransmitter imbalance in order to emphasize current research based on the pharmacology of these disorders. Specifically, dopamine (DA) excess and acetylcholine (ACh) deficiency may characterize part of the pathology of several hyperkinetic movement disorders including tardive dyskinesia, Huntington disease, Gilles de la Tourette syndrome, l-dopa dyskinesias, tardive Tourette syndrome, and toxic Tourette syndrome. The mirror image of this paradigm, namely DA deficiency and ACh excess, may characterize several rigid-dystonic movement disorders including Parkinson disease, drug-induced dystonias, and dystonia musculorum deformans. Finally, the unique combination of DA excess with ACh excess may characterize idiopathic orofacial dyskinesia (also known as Meige dystonia, Brueghel syndrome, and blepharospasm-oromandibular dystonia). Evidence supporting this formulation of movement disorders is reviewed, the limitations of this hypothesis are discussed, and new data from our own studies are presented.

Meige's syndrome: Clinical, pharmacological and radiological observations

The clinical, pharmacological, and neuroradiological observations in six patients with spontaneous blepharospasm-oromandibular dystonia (Meige's) syndrome are recorded. This group consisted of five males and one female, mean age at onset being 50.3 years. The duration of symptoms ranged from three months to 12 years, three patients having had symptoms for over four years. The dyskinesia was arrhythmic and asymmetrical in the orbicularis oculi and masseter muscles electrophysiologically. Pharmacological studies evinced no consistent response to parenteral physostigmine, no response to oral levodopa and no significant improvement in the dyskinesia following oral haloperidol. Lumbar air encephalogram was done in five patients, and showed frontal cortical atrophy without ventricular dilation in three. It is concluded that Meige's syndrome is a distinct nosological entity, and that physostigmine test is unlikely to be helpful in the differential diagnosis from neuroleptic-induced tardive dyskinesia. Neurotransmitter imbalance in the basal ganglia in this disorder remains to be established, and at present there is no satisfactory drug treatment for this progressively disabling movement disorder.

Blepharospasm-oromandibular dystonia syndrome (Brueghel's syndrome). A variant of adult-onset torsion dystonia?

Thirty-nine patients with the idiopathic blepharospasm-oromandibular dystonia syndrome are described. All presented in adult life, usually in the sixth decade; women were more commonly affected than men. Thirteen had blepharospasm alone, nine had oromandibular dystonia alone, and 17 had both. Torticollis or dystonic writer's camp preceded the syndrome in two patients. Eight other patients developed toritocollis, dystonic posturing of the arms, or involvement of respiratory muscles. No cause or hereditary basis for the illness were discovered. The evidence to indicate that this syndrome is due to an abnormality of extrapyramidal function, and that it is another example of adult-onset focal dystonia akin to spasmodic torticollis and dystonic writer's cramp, is discussed.