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Toxins Apr 2020Blepharospasm and oromandibular dystonia are focal dystonias characterized by involuntary and often patterned, repetitive muscle contractions. There is a long history of... (Review)
Review
Blepharospasm and oromandibular dystonia are focal dystonias characterized by involuntary and often patterned, repetitive muscle contractions. There is a long history of medical and surgical therapies, with the current first-line therapy, botulinum neurotoxin (BoNT), becoming standard of care in 1989. This comprehensive review utilized MEDLINE and PubMed and provides an overview of the history of these focal dystonias, BoNT, and the use of toxin to treat them. We present the levels of clinical evidence for each toxin for both, focal dystonias and offer guidance for muscle and site selection as well as dosing.
Topics: Blepharospasm; Botulinum Toxins; Dystonic Disorders; Humans; Mandibular Diseases; Muscular Diseases; Neuromuscular Agents
PubMed: 32331272
DOI: 10.3390/toxins12040269 -
Frontiers in Neurology 2021Meige syndrome (MS) is cranial dystonia characterized by the combination of upper and lower cranial involvement and including binocular eyelid spasms (blepharospasm;... (Review)
Review
Meige syndrome (MS) is cranial dystonia characterized by the combination of upper and lower cranial involvement and including binocular eyelid spasms (blepharospasm; BSP) and involuntary movements of the jaw muscles (oromandibular dystonia; OMD). The etiology and pathogenesis of this disorder of the extrapyramidal system are not well-understood. Neurologic and ophthalmic examinations often reveal no abnormalities, making diagnosis difficult and often resulting in misdiagnosis. A small proportion of patients have a family history of the disease, but to date no causative genes have been identified to date and no cure is available, although botulinum toxin A therapy effectively mitigates the symptoms and deep brain stimulation is gaining increasing attention as a viable alternative treatment option. Here we review the history and progress of research on MS, BSP, and OMD, as well as the etiology, pathology, diagnosis, and treatment.
PubMed: 33854473
DOI: 10.3389/fneur.2021.630221 -
Neurologic Clinics May 2020The dystonias are a large and heterogenous group of disorders characterized by excessive muscle contractions leading to abnormal postures and/or repetitive movements.... (Review)
Review
The dystonias are a large and heterogenous group of disorders characterized by excessive muscle contractions leading to abnormal postures and/or repetitive movements. Their clinical manifestations vary widely, and there are many potential causes. Despite the heterogeneity, helpful treatments are available for the vast majority of patients. Symptom-based therapies include oral medications, botulinum toxins, and surgical interventions. For some subtypes of dystonia, specific mechanism-based treatments are available. Advances in understanding the biological basis for many types of dystonia have led to numerous recent clinical trials, so additional treatments are likely to become available in the very near future.
Topics: Dystonia; Humans
PubMed: 32279713
DOI: 10.1016/j.ncl.2020.01.003 -
Scientific Reports Aug 2021To contribute to the understanding of the aetiology and pathogenesis of Meige syndrome, the metabolic networks of patients with Meige syndrome were investigated using...
To contribute to the understanding of the aetiology and pathogenesis of Meige syndrome, the metabolic networks of patients with Meige syndrome were investigated using 18F-fluoro-D-glucose positron emission tomography (18F-FDG-PET) imaging of cerebral glucose metabolism. Fifty right-handed and unmedicated primary Meige syndrome patients enrolled between September 2017 and September 2020 at the Department of Neurosurgery, Peking University People's Hospital, and 50 age- and sex-matched healthy control subjects participated in the study. Metabolic connectivity and graph theory analysis were used to investigate metabolic network differences based on 18F-FDG-PET images. Glucose hypometabolism was detected in the left internal globus pallidus and parietal lobe, right frontal lobe and postcentral gyrus, and bilateral thalamus and cerebellum of patients with Meige syndrome. Clustering coefficients (Cps) (density threshold: 16-28%; P < 0.05) and shortest path lengths (Lps) (density threshold: 10-15%; P < 0.05) were higher in Meige syndrome patients than in healthy controls. Small-worldness was lower in Meige syndrome patients than in healthy controls, and centrality was significantly lower in the right superior occipital gyrus and pallidum and higher in the right thalamus. Hypometabolism in the globus pallidus and thalamus may indicate basal ganglia-thalamocortical motor circuit abnormalities as a pathogenic mechanism of Meige syndrome, providing a possible explanation for the efficacy of deep brain stimulation (DBS) in improving symptoms. Meige syndrome patients had abnormal small-world properties. Centrality changes in the right pallidus and thalamus verified the important roles of these regions in the pathogenesis of Meige syndrome.
Topics: Adult; Aged; Brain; Case-Control Studies; Female; Glucose; Humans; Male; Meige Syndrome; Metabolic Networks and Pathways; Metabolome; Middle Aged; Positron-Emission Tomography; Tomography, X-Ray Computed
PubMed: 34344985
DOI: 10.1038/s41598-021-95333-8 -
Neurological Sciences : Official... Jun 2022Meige syndrome (MS) is cranial dystonia, including bilateral eyelid spasms (blepharospasm; BSP) and involuntary movements of the jaw muscles (oromandibular dystonia;...
OBJECTIVE
Meige syndrome (MS) is cranial dystonia, including bilateral eyelid spasms (blepharospasm; BSP) and involuntary movements of the jaw muscles (oromandibular dystonia; OMD). Up to now, the pathogenic genes of MS and BSP are still unclear.
METHODS
We performed Sanger sequencing of GNAL, TOR1A, TOR2A, THAP1, and REEP4 exons on 78 patients, including 53 BSP and 25 MS and 96 healthy controls.
RESULTS
c.845G > C[R282P] of TOR1A, c.629delC[p.Gly210AlafsTer60] of TOR2A, c.1322A > G[N441S] of GNAL, c.446G > A[R149Q], and c.649C > T[R217C] of REEP4 were identified and predicated as deleterious probably damaging variants. Three potential alterations of splicing variants of TOR1A and TOR2A were identified in patients. The frequencies of TOR1A rs1435566780 and THAP1 rs545930392 were higher in patients than in controls.
CONCLUSIONS
TOR1A rs1435566780 (c.*16G > C(G > A)) and THAP1 rs545930392 (c.192G > A[K64K]) may contribute to the etiology of MS and BSP. Other identified rare mutations predicted as deleterious probably damaging need further confirmation. Larger MS and BSP cohorts and functional studies will need to be performed further to elucidate the association between these genes and the diseases.
Topics: Apoptosis Regulatory Proteins; Blepharospasm; DNA-Binding Proteins; Dystonia; Dystonic Disorders; Genetic Testing; Humans; Meige Syndrome; Membrane Transport Proteins; Molecular Chaperones
PubMed: 35044558
DOI: 10.1007/s10072-022-05900-8 -
Clinical Parkinsonism & Related... 2021Dyspnoea is rarely mentioned in the clinical description of adult-onset isolated dystonia. In this study, we present the clinical features of 13 patients with Meige...
BACKGROUND
Dyspnoea is rarely mentioned in the clinical description of adult-onset isolated dystonia. In this study, we present the clinical features of 13 patients with Meige syndrome (cranio-cervical dystonia) with breathing difficulties.
METHODS
A retrospective case note review was performed of patients presenting with Meige syndrome and shortness of breath, to a neuro-laryngology MDT clinic.
RESULTS
Some patients were severely limited by their breathlessness, but others did not volunteer these symptoms. The majority of patients were referred with the assumption that the larynx was the cause of the problem; however half the patients did not have evidence of laryngeal involvement. Of the patients who had laryngeal involvement, injecting the larynx alone did not always relieve the dyspnoea. The majority of our patients responded to injection of the suprahyoid muscles, including genioglossus, digastric and mylohyoid.
CONCLUSION
We recommend routinely establishing if the patient with Meige syndrome has signs or symptoms of breathlessness, and establishing the level of the problem, as this can be treated successfully.
PubMed: 34541486
DOI: 10.1016/j.prdoa.2021.100106 -
Journal of Neuroimmunology Feb 2024This 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...
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.
Topics: Male; Humans; Aged; Sjogren's Syndrome; Meige Syndrome; Blepharospasm; Treatment Outcome
PubMed: 38134494
DOI: 10.1016/j.jneuroim.2023.578264 -
The Canadian Journal of Neurological... Oct 2023
PubMed: 37830290
DOI: 10.1017/cjn.2023.298 -
Frontiers in Neurology 2023Oscillatory patterns in local field potentials (LFPs) have been recognized as disease-specific physiomarkers, particularly in the context of Parkinson's disease and...
OBJECTIVES
Oscillatory patterns in local field potentials (LFPs) have been recognized as disease-specific physiomarkers, particularly in the context of Parkinson's disease and cervical dystonia. This characteristic oscillatory feature is currently employed in adaptive deep brain stimulation (aDBS). However, for other types of dystonia, especially Meige syndrome, a distinct physiomarker of this nature is yet to be identified.
METHODS
Local field potentials were recorded during microelectrode-guided deep brain stimulation surgery from 28 patients with primary Meige syndrome. Before surgery, the severity of patients' motor syndrome were assessed using the Burke-Fahn-Marsden Dystonia Rating Scale-Motor (BFMDRS-M). An instantaneous oscillation detection method was employed to identify true narrowband oscillations. Subsequently, a linear mixed effects model was utilized to examine the relationship between oscillatory activities (including power amplitude and burst duration) and symptom severity.
RESULTS
The focal peaks of "oscillatory activities" detected were predominantly concentrated in the narrow theta band (4-8 Hz), constituting 81.5% of the total detected oscillations in all recording sites near active DBS contacts in the globus pallidus internus (GPi). The linear mixed effects model revealed a positive correlation between the theta burst duration and the severity of preoperative motor impairment, but no correlation with postoperative motor scores. Additionally, there was no significant lateralization effect observed between the left and right GPi.
CONCLUSION
Our findings suggest that the exaggerated narrowband theta activity (mainly the burst duration) in the GPi is predictive of dystonia symptom severity and may be used as a physiomarker for optimized DBS target during surgery and adaptive DBS for the treatment of Meige syndrome.
PubMed: 38178893
DOI: 10.3389/fneur.2023.1286634