Delineation of the Clinical Features and Treatment Response of Oromandibular Dystonia: A Multicenter Summary of 2,057 Cases.

Objective: To better characterize oromandibular dystonia (OMD) to facilitate early diagnosis and test the hypothesis that botulinum toxin treatment alleviates symptoms, regardless of etiology, to provide guidance on treatment strategies. Methods: To better characterize this condition we utilize a three-pronged approach. First, we provide a comprehensive summary of the worlds literature encompassing 1157 cases in 27 separate manuscripts. Next, we describe the clinical features of 727 OMD subjects enrolled by the Dystonia Coalition (DC), an international multicenter database. Finally, we provide details of the treatment approach and response from two expert centers where large numbers of OMD patients are followed. Cases from expert centers were utilized to analyze whether response to botulinum toxin varied by etiology of OMD. Results: In all cohorts, typical age at onset was in the 50s and approximately 70% of cases were female. Although the literature OMD more commonly described as a focal dystonia, analysis of the DC database revealed it more commonly appears as part of a segmental dystonia. Expert center review of 173 cases revealed botulinum toxin injections improved symptom severity by more than 50% in approximately 78% of subjects. Among the patients at expert centers, analysis revealed that treatment response did not vary by etiology. Conclusions: Botulinum toxin injections are an effective treatment for OMD, regardless of etiology. By providing a more comprehensive description of OMD and the therapeutic efficacy of botulinum toxin for this type of dystonia, we hope to improve clinical recognition to aid in timely diagnosis and inform treatment strategies.

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Oromandibular Dystonia: A Clinical Examination of 2,020 Cases

Frontiers in Neurology ◽

10.3389/fneur.2021.700714 ◽

2021 ◽

Vol 12 ◽

Author(s):

Laura M. Scorr ◽

Stewart A. Factor ◽

Sahyli Perez Parra ◽

Rachel Kaye ◽

Randal C. Paniello ◽

...

Keyword(s):

Clinical Features ◽

Age At Onset ◽

Treatment Strategies ◽

Oromandibular Dystonia ◽

Cross Sectional ◽

Psychiatric Disturbances ◽

Segmental Dystonia ◽

Expert Center ◽

Sectional Analysis ◽

Botulinum Toxin Injections

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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Patient Selection Criteria for Deep Brain Stimulation for Dystonia

Deep Brain Stimulation ◽

10.1093/med/9780190647209.003.0035 ◽

2020 ◽

pp. 175-184

Author(s):

Laura S. Surillo Dahdah ◽

Rasheda El-Nazer ◽

Richard B. Dewey ◽

Padraig O’Suilleabhain ◽

Shilpa Chitnis

Keyword(s):

Botulinum Toxin ◽

Patient Selection ◽

Muscle Activation ◽

Age At Onset ◽

Voluntary Action ◽

Body Distribution ◽

Segmental Dystonia ◽

Generalized Dystonia ◽

Patient Selection Criteria ◽

Botulinum Toxin Injections

Dystonia is defined as a movement disorder characterized by sustained or intermittent muscle contractions causing abnormal, often repetitive, movements, postures, or both. Dystonic movements are typically patterned and twisting and may be tremulous. Dystonia is often initiated or worsened by voluntary action and associated with overflow muscle activation. A recent revision now classifies dystonia into two axes: (1) clinical characteristics (age at onset, temporal pattern, body distribution, whether focal, segmental, or generalized; and associated features) and (2) etiology, whether idiopathic/genetic or secondary to other neurological/medical diseases. Pharmacological treatments for dystonia remain generally unsatisfactory and consist of various combinations of levodopa, anticholinergics, muscle-relaxing drugs as well as botulinum toxin injections in focal and segmental dystonia. Overall in outcomes are poor because of limited efficacy and the potential for significant side effects such as sedation and cognitive impairment. A humanitarian-device exemption from the Food and Drug Administration was issued for the treatment of medically refractory symptoms of generalized dystonia with the use of DBS. Bilateral GPi DBS surgery is effective for both generalized and focal dystonia including cervical dystonia and tardive dystonia. DBS may be the best available treatment for disabling symptoms of generalized, cervical, tardive, and other dystonia that have failed to respond to oral drugs and botulinum toxin injections (when applicable) as long as contractures have not developed, because in this situation, DBS will be ineffective. Rigorous patient selection and careful management of comorbidities are essential for favorable outcomes.

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First Report of Geniospasm in a Five-Generation Brazilian Family: Clinical Features, Electromyography Findings and Botulinum Toxin Treatment

Clinical Medical Reviews and Case Reports ◽

10.23937/2378-3656/1410191 ◽

2017 ◽

Vol 4 (10) ◽

Author(s):

Carvalho LB ◽

◽

Rampim DB ◽

Chung TM

Keyword(s):

Botulinum Toxin ◽

Clinical Features ◽

First Report ◽

Botulinum Toxin Treatment

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Botulinum toxin treatment in severe refractory oromandibular dystonia

Toxicon ◽

10.1016/j.toxicon.2018.11.249 ◽

2018 ◽

Vol 156 ◽

pp. S104

Author(s):

Yaprak Seçil

Keyword(s):

Botulinum Toxin ◽

Oromandibular Dystonia ◽

Botulinum Toxin Treatment

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Systematic review of botulinum toxin treatment for oromandibular dystonia

Toxicon ◽

10.1016/j.toxicon.2018.02.006 ◽

2018 ◽

Vol 147 ◽

pp. 96-99 ◽

Cited By ~ 14

Author(s):

Cynthia L. Comella

Keyword(s):

Systematic Review ◽

Botulinum Toxin ◽

Oromandibular Dystonia ◽

Botulinum Toxin Treatment

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1218 Obstructive Sleep Apnea Due To Oromandibular Dystonia And Treated With Botulinum Toxin

SLEEP ◽

10.1093/sleep/zsaa056.1212 ◽

2020 ◽

Vol 43 (Supplement_1) ◽

pp. A465-A466

Author(s):

Caleb Hsieh ◽

Nancy Hsu ◽

Aaron Thomas ◽

Melisa Chang ◽

Armand Ryden ◽

...

Keyword(s):

Obstructive Sleep Apnea ◽

Botulinum Toxin ◽

Sleep Apnea ◽

Upper Airway ◽

Oromandibular Dystonia ◽

Persistent Symptoms ◽

Obstructive Sleep ◽

Respiratory Event ◽

Botulinum Toxin Injections ◽

Masseter Muscles

Abstract Introduction Abnormalities of the upper airway are an underrecognized cause of obstructive sleep apnea (OSA). Oromandibular dystonia (OMD) is characterized by involuntary contractions of the masticatory, facial, pharyngeal or laryngeal muscles usually resulting in pain, dysarthria, dysphagia, or impaired mastication. We present a patient with OMD manifest as episodic OSA and sleep maintenance insomnia treated effectively with botulinum toxin injections of the temporalis and masseter muscles. Report of Case A 51-year-old man was referred for fatigue and insomnia. History was notable for prior facial trauma requiring jaw surgeries with titanium prostheses and chronic OMD requiring periodic botulinum toxin injections of the temporalis and masseter muscles. An initial home sleep test (HST) 43 days after the last botulinum toxin injection showed a respiratory event index of 6.5 events/hour. Given severity of symptoms, positive airway pressure (PAP) was initiated; however, due to poor tolerance and persistent symptoms, he was referred for attended polysomnography (PSG). The PSG was done 13 days after an injection and showed apnea-hypopnea index (AHI) of 0 events/hour. Because the patient continued to endorse episodically severe symptoms that he felt paralleled the severity of OMD and waning of botulinum toxin effect, a repeat PSG was performed at a subjective botulinum toxin effect nadir. This PSG done at 83 days post-injection demonstrated AHI of 84 events/hour. PAP therapy was thus resumed, and the patient’s symptoms improved with increased frequency of botulinum toxin treatments. Conclusion To our knowledge, this is the first report of OSA due to chronic dystonia of the facial muscles. Botulinum toxin has demonstrated benefit in the treatment of OMD with efficacy generally lasting three to six months. While PAP remains the first-line treatment for OSA, in patients with structural or functional abnormalities of the upper airway, it is important to also consider treatment of the underlying anatomical defect.

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