Blepharospasm, Oromandibular Dystonia, and Meige Syndrome: Clinical and Genetic Update.
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ABSTRACT:
SUBMITTER: Ma H
PROVIDER: S-EPMC8039296 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:BackgroundDyspnoea 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.MethodsA retrospective case note review was performed of patients presenting with Meige syndrome and shortness of breath, to a neuro-laryngology MDT clinic.ResultsSome 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.ConclusionWe 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.
| S-EPMC8436071 | biostudies-literature
Project description:Objective: The goal of this study is to better characterize the phenotypic heterogeneity of oromandibular dystonia (OMD) for the purpose of facilitating early diagnosis. Methods: First, we provide a comprehensive summary of the literature encompassing 1,121 cases. Next, we describe the clinical features of 727 OMD subjects enrolled by the Dystonia Coalition (DC), an international multicenter cohort. Finally, we summarize clinical features and treatment outcomes from cross-sectional analysis of 172 OMD subjects from two expert centers. Results: In all cohorts, typical age at onset was in the 50s and 70% of cases were female. The Dystonia Coalition cohort revealed perioral musculature was involved most commonly (85%), followed by jaw (61%) and tongue (17%). OMD more commonly appeared as part of a segmental dystonia (43%), and less commonly focal (39%) or generalized (10%). OMD was found to be associated with impaired quality of life, independent of disease severity. On average, social anxiety (LSA score: 33 ± 28) was more common than depression (BDI II score: 9.7 ± 7.8). In the expert center cohorts, botulinum toxin injections improved symptom severity by more than 50% in ~80% of subjects, regardless of etiology. Conclusions: This comprehensive description of OMD cases has revealed novel insights into the most common OMD phenotypes, pattern of dystonia distribution, associated psychiatric disturbances, and effect on QoL. We hope these findings will improve clinical recognition to aid in timely diagnosis and inform treatment strategies.
| S-EPMC8481678 | biostudies-literature
Project description:BackgroundMovement disorder is common in Wilson's disease (WD), but there is no report on oromandibular dystonia (OMD). We report on frequency, severity, and MRI correlation of OMD in Wilson's disease with neurological manifestations (WDNM) and its response to treatment.MethodsConsecutive WDNM patients were included and their clinical, hematological, serum chemistry, and MRI findings were noted. Neurological severity of WD and OMD were assessed. Burke-Fahn-Marsden (BFM) score for dystonia was noted. Patients were treated with penicillamine, zinc, and multiple antidystonic drugs. Clinical improvement at 3 and 6 months was noted.ResultsOverall, 61 of 67 (91%) WDNM patients had OMD, whose median age was 13.5 years. Median severity of OMD was 2.5 (range, 1-4). Thirteen patients were anarthric and 12 unable to eat. Severity of OMD correlated with drooling (r = 0.29; P = 0.02), BFM score (r = 0.63; P < 0.001), pancytopenia (r = -0.26; P = 0.04), and serum ceruloplasmin (r = 0.33; P = 0.01), but not with location and number of MRI lesions. Compared to baseline, severity of OMD improved at 6 months (P < 0.001), but not at 3 months. None became asymptomatic. Improvement in OMD paralleled with improvement in severity grade of WDNM (r = 0.26; P = 0.04) and with BFM score (r = 0.31; P = 0.02).ConclusionOMD was a common manifestation of WDNM occurring in 91% patients, and OMD improved partially over the study period.
| S-EPMC6178763 | biostudies-literature
Project description: Not available
| S-EPMC6547033 | biostudies-literature
Project description:Rett syndrome (RS) is a severe neurodevelopmental disorder that contributes significantly to severe intellectual disability in females worldwide. It is caused by mutations in MECP2 in the majority of cases, but a proportion of atypical cases may result from mutations in CDKL5, particularly the early onset seizure variant. The relationship between MECP2 and CDKL5, and whether they cause RS through the same or different mechanisms is unknown, but is worthy of investigation. Mutations in MECP2 appear to give a growth disadvantage to both neuronal and lymphoblast cells, often resulting in skewing of X inactivation that may contribute to the large degree of phenotypic variation. MeCP2 was originally thought to be a global transcriptional repressor, but recent evidence suggests that it may have a role in regulating neuronal activity dependent expression of specific genes such as Hairy2a in Xenopus and Bdnf in mouse and rat.
| S-EPMC1735910 | biostudies-other
Project description:IntroductionBlepharospasm is characterized by involuntary eyelid spasms. It can be associated with perioral dystonia (Meige's syndrome or orofacial dystonia). We aimed at studying resting-state functional brain connectivity in these patients and its potential modulation by therapeutic botulinum toxin injections.MethodsWe performed resting-state functional MRI and a region of interest-based analysis of functional connectivity in 13 patients with blepharospasm/Meige's syndrome in comparison to 13 healthy controls. Patients were studied before and 4 weeks after botulinum toxin treatment. Simultaneous facial electromyography was applied to control for involuntary facial movements.ResultsBefore botulinum toxin treatment, patients showed reduced functional connectivity between caudate and primary sensorimotor, somatosensory association and visual cortices as well as between putamen and parietal association cortex. Cerebellar areas displayed decreased functional connectivity to somatosensory and visual association cortices. On the cortical level, connectivity was reduced between the cingulate cortex and the primary sensorimotor/premotor and parietal association cortex, between premotor areas and the primary somatosensory cortices, and between the postcentral gyrus and temporoparietal, secondary somatosensory, cingular, and cerebellar regions. Botulinum toxin treatment modulated functional connectivity, especially between cerebellum and visual cortices.ConclusionsPatients with blepharospasm/Meige's syndrome show altered functional connectivity at rest in widespread brain regions including basal ganglia, cerebellar, primary/secondary sensorimotor, and visual areas. Functionally, this may reflect a predisposition for defective movement inhibition and sensorimotor integration. Botulinum toxin treatment could modulate brain connectivity in blepharospasm by altering visual and sensory input.
| S-EPMC5853618 | biostudies-literature
Project description:Hypoglossia is a rare congenital anomaly resulting in a small rudimentary tongue. It is classified under the oromandibular-limb hypogenesis syndrome and can be found in isolation (Type IA) but is more often associated with other congenital disorders, such as limb defects. Isolated hypoglossia cases are rare, and while feeding disorders are common, in some cases, neonatal airway obstruction is the most problematic. In the present report, we discuss two cases of newborns presenting with hypoglossia without limb deformities or visceral anomalies: one new case and a 10-year update of a previously reported case. These two cases highlight the variability in presenting symptoms and the challenges in diagnosis and management of a rare clinical entity. We focus on the discussion of early diagnosis, multidisciplinary management, and shared decision-making, with emphasis on the current therapeutic strategies available to the clinician and their limitations during the neonatal period. Early surgical multivector mandibular distraction osteogenesis can be proposed with minimal short- and long-term morbidity, pending a consistent follow-up. This clinical entity will require multidisciplinary team care into adult years.
| S-EPMC9153858 | biostudies-literature
Project description:Oromandibular dystonia (OMD) causes involuntary movements of masticatory and lingual muscles impairing eating, speaking, and swallowing. Treatment options are limited. The objective of this study was to determine the safety and efficacy of abobotulinumtoxinA (aboBoNTA) in OMD. A dose-finding study (phase 1) followed by a single session, prospective, single-blind trial (phase 2) was carried out. OMD subjects were evaluated at baseline, 6 and 12 weeks. Muscles injected were tailored to individual symptoms using EMG guidance, but the aboBoNTA dose for each muscle was pre-specified based on phase 1 results. Evaluations were Global Dystonia Rating Scale (GDS), Unified Dystonia Rating Scale (UDRS), Clinical Global Impression (CGI) improvement and severity, and quality of life (OMDQ-25). Adverse events were monitored. The lowest dosage in phase 1 resulted in adverse effects in two of three patients and thus was used in phase 2. In phase 2, adverse effects were observed in 50% of subjects including dysphagia, voice change, and soft palate weakness. Most were mild. Significant improvement was seen in quality of life (OMDQ-25), speech (BFMq21), and change in GDS, UDRS, CGI severity assessed by the unblinded investigator, but not in blinded video ratings. We conclude that aboBoNTA therapy in this study was associated with improved quality of life and was generally well tolerated in OMD, but occurrence of dysphagia dictated the importance of using low genioglossus dosing. Face to face assessment appears to be more sensitive than video assessment for change in OMD severity. Consideration of the disability in OMD places constraints on traditional placebo-control trial design. Development of novel trial designs is warranted.
| S-EPMC5935649 | biostudies-literature
Project description: Not available
| S-EPMC4408548 | biostudies-literature
Project description:The possible genetic variants associated with blepharospasm (BSP) and facial dystonia have been investigated. Although genetic variants associated with BSP have been extensively studied, the contribution of single-nucleotide polymorphisms towards this condition remains poorly understood. In addition, the etiology of BSP remains to be fully elucidated. Therefore, the present study aimed to assess the role of polymorphisms in the torsin 1A (TOR1A), dopamine receptor D (DRD)2 and DRD5 genes in South Korean patients with BSP. Furthermore, the role of genetic variants of these three aforementioned genes was investigated. A prospective case-control study was established, where 56 patients with BSP and 115 healthy controls were recruited at the Department of Ophthalmology of CHA Bundang Medical Center (Seongnam, South Korea) using single nucleotide polymorphisms analysis by real-time PCR. The TOR1A rs1182CC/DRD5 rs6283TC genotype combination was found to be associated with decreased BSP risk [adjusted odds ratio (AOR), 0.288; P=0.013]. DRD5 rs6283 was observed to be associated with the periocular type of BSP in the co-dominant (for the TC genotype; AOR, 0.370; P=0.029) and dominant models (AOR, 0.406; P=0.029). The recessive model of TOR1A rs1801968 (AOR, 0.245; P=0.030), and the recessive (AOR, 0.245; P=0.029) and over-dominant models (AOR, 2.437; P=0.019) of DRD2 rs1800497 were found to be associated with superior responses to botulinum neurotoxin A (BoNT) treatment. By contrast, dominant (AOR, 0.205; P=0.034) and additive (AOR, 0.227; P=0.030) models of DRD5 rs6283 were associated with poor responses to BoNT treatment. To conclude, these results suggested that DRD2 rs1800497 can confer genetic susceptibility to BSP responses to BoNT treatment, whereas the TOR1A rs1182CC/DRD5 rs6283TC genotype combination appeared to contribute to the association with BoNT efficacy in BSP.
| S-EPMC11228564 | biostudies-literature