Task-Specific Oromandibular Dystonia in a Telemarketer.
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ABSTRACT:
SUBMITTER: Kim S
PROVIDER: S-EPMC6547033 | biostudies-literature | 2019 May
REPOSITORIES: biostudies-literature
Publications
Task-Specific Oromandibular Dystonia in a Telemarketer.
Journal of movement disorders 20190405 2
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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:Background: Oromandibular dystonia manifests with sustained or task-specific contractions of the masticatory, tongue, and/or other muscles in the stomatognathic system. Since its symptoms can vary, it has been difficult to objectively measure disease severity and post-treatment changes. Objective: To develop and validate a comprehensive measurement tool for oromandibular dystonia. Methods: An examiner-rated scale included three subscales for severity, disability, and pain, modified specifically for oromandibular dystonia from the Toronto Western Spasmodic Torticollis Rating Scale-2. To evaluate the severity of each subtype of oromandibular dystonia, four of the six items were selected according to the subtype (jaw closing dystonia, tongue dystonia, jaw opening dystonia, jaw deviation [protrusion] dystonia, and lip dystonia). A patient-administered questionnaire based on clinical features and other relevant aspects associated with oromandibular dystonia was developed, which included five subscales: general, eating, speech, cosmetic, and social/family life. The questionnaire, examiner-rated scale, and four subscales (sleep, annoyance, mood, and psychosocial functioning) of the Cervical Dystonia Impact Profile-58 were combined to construct the oromandibular dystonia rating scale (OMDRS). The reliability and validity of the scale were assessed using clinimetric testing. Results: Six hundred and eighteen patients with oromandibular dystonia (394 women and 224 men; mean age, 51.7 years) were evaluated by the OMDRS. The overall OMDRS showed high-level internal consistency measured by Cronbach's alpha (0.95) with a logical factor structure. Cronbach's alpha for the subscales was satisfactory to excellent, ranging from 0.72 to 0.94. All items revealed acceptable inter-rater reliability (kappa > 0.4, interclass correlation coefficient > 0.6). Repeated ratings of videotapes revealed acceptable intra-rater reliability for all items (kappa > 0.76, interclass correlation coefficient > 0.86). Test-retest reliability showed a significant (p < 0.001) correlation efficiency. The OMDRS showed significant (p < 0.001) convergent and discriminant validity and significant (p < 0.001) sensitivity to changes after botulinum toxin therapy. Conclusion: The OMDRS can be useful for the comprehensive evaluation of disease severity, disability, psychosocial functioning, and impact on the quality of life as well as therapeutic changes in patients with oromandibular dystonia.
| S-EPMC7669987 | 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.
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| S-EPMC9536916 | 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.
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Project description: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.
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| S-EPMC6183243 | biostudies-literature
Project description:Background: Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disease. Because of variable clinical manifestations, NIID was often misdiagnosed. According to published case reports, the common clinical manifestations of NIID include dementia, muscle weakness, autonomic impairment, sensory disturbance, rigidity, ataxia convulsions, etc. However, no cases of oromandibular dystonia were mentioned. Case Presentation: We describe a case of a 58-year-old woman presenting with mouth involuntary chewing initially. She started to show hand tremors, ataxia, and walking instability until 2 years later. Diffusion-weighted imaging showed high intensity signal along the corticomedullary junction. Fluid-attenuated inversion recovery imaging showed white matter hyperintensity. Electromyography (EMG) indicated peripheral nerve degeneration. Neuropsychological testing showed memory loss. Finally, skin biopsy and GGC repeat expansions in the NOTCH2NLC (Notch 2 N-terminal like C) gene confirmed the diagnosis of NIID. Conclusion: This case demonstrated that oromandibular dystonia could be the first symptom of NIID. This case report provides new characteristics of NIID and broadens its clinical spectrum.
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Project description: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.
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