Background: Dystonia is characterized by involuntary intermittent or sustained abnormal movements or postures. Deep brain stimulation (DBS) is an effective treatment, and response has been shown to vary across body regions but literature depicting this pattern is conflicting. Our study analyzes dystonia response to DBS by body distribution using the Burke-Fahn-Marsden Rating Scale motor (BFMRS-M) score and the Global Dystonia Rating Scale (GDRS). Methods: We reviewed standardized videos of patients with isolated non-acquired dystonia obtained at baseline and post-DBS of unilateral or bilateral globus pallidus interna between 2008 and 2020. BFMRS-M and GDRS were scored using blinded assessment by two movement disorders neurologists. Mean baseline and post-DBS scores were compared using a paired t-test. Results: Ten male and 10 female patients were included, with average age at surgery 49 years. Post-DBS total BFMRS-M scores demonstrated improvement (20.5 ± 3.6 vs 11.9 ± 2.6) and there was significant improvement in neck sub-scores (4.9 ± 0.6 vs 2.5 ± 0.4). All patients demonstrated an improved total GDRS score post-DBS (21.6 ± 3.7 vs 11.1 ± 2.1), with significant improvements in GDRS sub-scores of the neck (5.9 ± 0.6 vs 2.6 ± 0.4) and shoulder & proximal arms (4.7 ± 1.1 vs 1.6 ± 0.5). Discussion: Efficacy of DBS varies by distribution of dystonia and should be considered in treatment planning discussions. GDRS is a more sensitive outcome measurement for dystonia compared to BFMRS-M and should be more routinely integrated into studying treatment response. Highlights This study shows that pallidal deep brain stimulation yields differential improvement across dystonia body regions, with greatest benefit in the neck and proximal arms. These results highlight that the Global Dystonia Rating Scale is more sensitive to regional outcomes compared to the commonly utilized Burke-Fahn-Marsden Rating Scale.

The Wharton Lab has collected CSF for over 10 years as a primary endpoint in NIH/NIA funded longitudinal observational studies and clinical trials in cognitively normal individuals with a parental history of Alzheimer’s disease (AD). LPs provide vital data on AD risk and progression and time specific information on efficacy for clinical interventions, yet few investigators include research LPs, for fear of clinical implications, lack of specialized clinicians, and perceived unwillingness of participants to consent to LPs, particularly in minoritized participants Comprehensive data is collected on willingness to take part in LP, safety, and procedure specifics, including side effects. Twenty milliliters of CSF are obtained using fluid drip or aspiration methods. Twenty-four hours post LP, the study team contacts the participant for LP follow up using a standardized questionnaire (potential side effects, severity, and home care initiated). Daily follow-up with the participant occurs until side effects subside Our data in 122 participants enrolled (1R01AG066203-02) indicate that 1) show that research LPs are safe and well tolerated and 2) cognitively normal, middle-aged participants are willing to undergo multiple LPs, regardless of race, ethnicity, and gender. Participants were 51.1% Black or African American and 45.2% Non-Hispanic White, 76.3% female and have an average BMI of 27.8. 9.6% of individuals self-excluded because of LP requirement. Of 139 LPs preformed, 93.9% of LPs were successful. 13.1% of participants reported a headache 24-hours post LP. 78.8% of participants reported no side effects. Headache(n=10) and lower back pain(n=4) were the most common side effects. When side effects occurred post LP, 16.3% initiated home care suggested by the research team, with hydration being the most common(n=6). LPs were most successful with a 22 Whitacre needle, followed by a 22 Quincke needle Data show that research LPs are safe and well tolerated in diverse cohorts, and that individuals are willing to take part in research LPs. Regular LP discussion and education for potential subjects is encouraged. Increased education and discussion of research LPs with the research team provides opportunities to discuss the procedure with the potential participant during the recruitment, consent, and screening processes

Background: Blepharospasm is treated with botulinum toxin, but obtaining satisfactory results is sometimes challenging. Objective: The aim is to conduct an exploratory trial of oral dipraglurant for blepharospasm. Methods: This study was an exploratory, phase 2a, randomized, double-blind, placebo-controlled trial of 15 participants who were assigned to receive a placebo or dipraglurant (50 or 100 mg) and assessed over 2 days, 1 and 2 hours following dosing. Outcome measures included multiple scales rated by clinicians or participants, digital video, and a wearable sensor. Results: Dipraglurant was well tolerated, with no obvious impact on any of the measurement outcomes. Power analyses suggested fewer subjects would be required for studies using a within-subject versus independent group design, especially for certain measures. Some outcome measures appeared more suitable than others. Conclusion: Although dipraglurant appeared well tolerated, it did not produce a trend for clinical benefit. The results provide valuable information for planning further trials in blepharospasm. (c) 2024 International Parkinson and Movement Disorder Society.

Objective: To study the prevalence and clinical features of cervical dystonia in Parkinson's disease (CD-PD). Background: PD features various forms of dystonia, including CD. Yet, the prevalence and clinical features of CD in PD patients are not well-characterized. Methods: We conducted a single site, prospective study where consecutively evaluated PD patients were examined for the presence of CD to ascertain its prevalence. For each case of CD-PD, a standardized questionnaire assessing demographic and clinical features was completed. Statistical analysis was performed to compare CD-PD characteristics to those of a previously published large idiopathic CD cohort. Results: Of 301 consecutive PD patients evaluated, 28 (9.3 %) had CD, far surpassing estimates of CD prevalence in the general population. This CD-PD cohort was predominantly male (71 %) with a mean age of 70.9 +/- 8.1 years. The mean duration of PD was 10.4 +/- 6.7 years. In most cases (n = 19, 68 %), CD developed after the onset of PD. Five patients reported dystonia improvements in response to levodopa, while none reported medication- induced worsening. In contrast to CD-PD, those with ICD (n = 209) were on average younger (59.7 +/- 10.1) and mostly female (74 %, p < 0.001). In addition, CD-PD was overall less severe as measured by the Global Dystonia Rating Scale (GDRS) (p = 0.002) and featured less head tremor and pain. Conclusion: Our findings indicate CD is overrepresented in PD compared to the general population and has clinical features distinct from those of ICD. These results justify larger, more comprehensive studies of CD-PD to better understand its frequency, pathophysiology, clinical characteristics, and associated risk factors.

BACKGROUND:Prior studies have indicated that female individuals outnumber male individuals for certain types of dystonia. Few studies have addressed factors impacting these sex differences or their potential biological mechanisms. OBJECTIVES:To evaluate factors underlying sex differences in the dystonias and explore potential mechanisms for these differences. METHODS:Data from individuals with various types of dystonia were analyzed in relation to sex. Data came from two different sources. One source was the Dystonia Coalition database, which contains predominantly idiopathic adult-onset focal and segmental dystonias. The second source was the MDSGene database, which contains predominantly early-onset monogenic dystonias. RESULTS:The 3222 individuals from the Dystonia Coalition included 71% female participants and 29% male participants for an overall female-to-male ratio (F:M) of 2.4. This ratio varied according to body region affected and whether dystonia was task-specific. The female predominance was age-dependent. Sex did not have a significant impact on co-existing tremor, geste antagoniste, depression or anxiety. In the 1377 individuals from the MDSGene database, female participants outnumbered male participants for some genes (GNAL, GCH1, and ANO3) but not for other genes (THAP1, TH, and TOR1A). CONCLUSIONS:These results are in keeping with prior studies that have indicated female individuals outnumber male individuals for both adult-onset idiopathic and early onset monogenic dystonias. These results extend prior observations by revealing that sex ratios depend on the type of dystonia, age, and underlying genetics.

BackgroundAlthough there are many possible causes for cervical dystonia (CD), a specific etiology cannot be identified in most cases. Prior studies have suggested a relationship between autoimmune disease and some cases of CD, pointing to possible immunological mechanisms.ObjectiveThe goal was to explore the potential role of multiple different immunological mechanisms in CD.MethodsFirst, a broad screening test compared neuronal antibodies in controls and CD. Second, unbiased blood plasma proteomics provided a broad screen for potential biologic differences between controls and CD. Third, a multiplex immunoassay compared 37 markers associated with immunological processes in controls and CD. Fourth, relative immune cell frequencies were investigated in blood samples of controls and CD. Finally, sequencing studies investigated the association of HLA DQB1 and DRB1 alleles in controls versus CD.ResultsScreens for anti-neuronal antibodies did not reveal any obvious abnormalities. Plasma proteomics pointed towards certain abnormalities of immune mechanisms, and the multiplex assay pointed more specifically towards abnormalities in T lymphocytes. Abnormal immune cell frequencies were identified for some CD cases, and these cases clustered together as a potential subgroup. Studies of HLA alleles indicated a possible association between CD and DRB1*15:03, which is reported to mediate the penetrance of autoimmune disorders.ConclusionsAltogether, the association of CD with multiple different blood-based immune measures point to abnormalities in cell-mediated immunity that may play a pathogenic role for a subgroup of individuals with CD.

BackgroundDeep brain stimulation (DBS) for Parkinson's disease (PD) is generally contraindicated in persons with dementia but it is frequently performed in people with mild cognitive impairment or normal cognition, and current clinical guidelines are primarily based on these cohorts. ObjectivesTo determine if moderately cognitive impaired individuals including those with mild dementia could meaningfully benefit from DBS in terms of motor and non-motor outcomes. MethodsIn this retrospective case-control study, we identified a cohort of 40 patients with PD who exhibited moderate (two or more standard deviations below normative scores) cognitive impairment (CI) during presurgical workup and compared their 1-year clinical outcomes to a cohort of 40 matched patients with normal cognition (NC). The surgery targeted subthalamus, pallidus or motor thalamus, in a unilateral, bilateral or staged approach. ResultsAt preoperative baseline, the CI cohort had higher Unified Parkinson's Disease Rating Scale (UPDRS) subscores, but similar levodopa responsiveness compared to the NC cohort. The NC and CI cohorts demonstrated comparable degrees of postoperative improvement in the OFF-medication motor scores, motor fluctuations, and medication reduction. There was no difference in adverse event rates between the two cohorts. Outcomes in the CI cohort did not depend on the target, surgical staging, or impaired cognitive domain. ConclusionsModerately cognitively impaired patients with PD can experience meaningful motor benefit and medication reduction with DBS.

INTRODUCTION:There remains an urgent need to identify preclinical pathophysiological mechanisms of Alzheimer's disease (AD) development in high-risk, racially diverse populations. We explored the relationship between cerebrospinal fluid (CSF) markers of vascular injury and neuroinflammation with AD biomarkers in middle-aged Black/African American (B/AA) and non-Hispanic White (NHW) participants. METHODS:Adults (45-65 years) with a parental history of AD were enrolled (n = 82). CSF and blood biomarkers were collected at baseline and year 2. RESULTS:CSF total tau (t-tau), phosphorylated tau (p-tau), and amyloid beta (Aβ)40 were elevated at year 2 compared to baseline. CSF soluble platelet-derived growth factor receptor β (sPDGFRβ) levels, a marker of pericyte injury, correlated positively with t-tau, p-tau, Aβ40 markers of vascular injury, and cytokines at baseline and year 2. CSF sPDGFRβ and tau were significantly lower in B/AA than NHW. DISCUSSION:Vascular dysfunction and neuroinflammation may precede cognitive decline and disease pathology in the very early preclinical stages of AD, and there are race-related differences in these relationships. HIGHLIGHTS:Cerebrospinal fluid (CSF) Alzheimer's disease (AD) biomarkers changed over 2 years in high-risk middle-aged adults. Markers of vascular dysfunction were associated with the CSF biomarkers amyloid beta and tau. AD biomarkers were lower in Black compared to non-Hispanic White individuals. Markers of vascular dysfunction were lower among Black individuals.

Movement Disorders Clinical PracticeVolume 10, Issue 8 p. 1235-1236 LETTERS: PUBLISHED ARTICLES Reply: Deep Brain Stimulation Outcomes in Parkinson's Disease Patients with Cognitive Impairment: Implications and Considerations Cady K. Block PhD, Cady K. Block PhD orcid.org/0000-0001-7168-6116 Department of Neurology, Emory University School of Medicine, Atlanta, Georgia, USASearch for more papers by this authorMargi Patel MD, Margi Patel MD Department of Neurology, Texas A&M University, Baylor University Medical Center, Dallas, Texas, USASearch for more papers by this authorBenjamin B. Risk PhD, Benjamin B. Risk PhD Department of Biostatistics and Bioinformatics, Emory University Rollins School of Public Health, Atlanta, Georgia, USA Emory Udall Center of Excellence in Parkinson's Disease Research, Emory National Primate Research Center, Atlanta, Georgia, USASearch for more papers by this authorEkaterina Staikova PhD, Ekaterina Staikova PhD Department of Neurology, Emory University School of Medicine, Atlanta, Georgia, USASearch for more papers by this authorDavid Loring PhD, David Loring PhD Department of Neurology, Emory University School of Medicine, Atlanta, Georgia, USASearch for more papers by this authorChristine D. Esper MD, Christine D. Esper MD Department of Neurology, Emory University School of Medicine, Atlanta, Georgia, USASearch for more papers by this authorLaura Scorr MD, Laura Scorr MD orcid.org/0000-0002-4569-6393 Department of Neurology, Emory University School of Medicine, Atlanta, Georgia, USASearch for more papers by this authorLenora Higginbotham MD, Lenora Higginbotham MD Department of Neurology, Emory University School of Medicine, Atlanta, Georgia, USA Emory Udall Center of Excellence in Parkinson's Disease Research, Emory National Primate Research Center, Atlanta, Georgia, USASearch for more papers by this authorPratibha Aia MD, Pratibha Aia MD Department of Neurology, Emory University School of Medicine, Atlanta, Georgia, USASearch for more papers by this authorMahlon R. De Long MD, Mahlon R. De Long MD Department of Neurology, Emory University School of Medicine, Atlanta, Georgia, USASearch for more papers by this authorThomas Wichmann MD, Thomas Wichmann MD Department of Neurology, Emory University School of Medicine, Atlanta, Georgia, USA Emory Udall Center of Excellence in Parkinson's Disease Research, Emory National Primate Research Center, Atlanta, Georgia, USASearch for more papers by this authorStewart A. Factor DO, Stewart A. Factor DO orcid.org/0000-0002-0449-973X Department of Neurology, Emory University School of Medicine, Atlanta, Georgia, USA Emory Udall Center of Excellence in Parkinson's Disease Research, Emory National Primate Research Center, Atlanta, Georgia, USASearch for more papers by this authorNicholas Au Yong MD, PhD, Nicholas Au Yong MD, PhD Department of Neurosurgery, Emory University School of Medicine, Atlanta, Georgia, USASearch for more papers by this authorJon T. Willie MD, PhD, Jon T. Willie MD, PhD Department of Neurosurgery, Neurology, and Psychiatry, Washington University School of Medicine, St Louis, Missouri, USASearch for more papers by this authorNicholas M. Boulis MD, Nicholas M. Boulis MD Department of Neurosurgery, Emory University School of Medicine, Atlanta, Georgia, USASearch for more papers by this authorRobert E. Gross MD, PhD, Robert E. Gross MD, PhD Department of Neurosurgery, Emory University School of Medicine, Atlanta, Georgia, USASearch for more papers by this authorCathrin Buetefisch MD, PhD, Cathrin Buetefisch MD, PhD Department of Neurology, Rehabilitation Medicine, and Radiology, Emory University School of Medicine, Atlanta, Georgia, USASearch for more papers by this authorSvjetlana Miocinovic MD, PhD, Corresponding Author Svjetlana Miocinovic MD, PhD [email protected] Department of Neurology, Emory University School of Medicine, Atlanta, Georgia, USA Emory Udall Center of Excellence in Parkinson's Disease Research, Emory National Primate Research Center, Atlanta, Georgia, USA Correspondence to: Svjetlana Miocinovic, Emory University, Department of Neurology, 12 Executive Park NE, Atlanta, GA, 30329, USA; E-mail: [email protected]Search for more papers by this author Cady K. Block PhD, Cady K. Block PhD orcid.org/0000-0001-7168-6116 Department of Neurology, Emory University School of Medicine, Atlanta, Georgia, USASearch for more papers by this authorMargi Patel MD, Margi Patel MD Department of Neurology, Texas A&M University, Baylor University Medical Center, Dallas, Texas, USASearch for more papers by this authorBenjamin B. Risk PhD, Benjamin B. Risk PhD Department of Biostatistics and Bioinformatics, Emory University Rollins School of Public Health, Atlanta, Georgia, USA Emory Udall Center of Excellence in Parkinson's Disease Research, Emory National Primate Research Center, Atlanta, Georgia, USASearch for more papers by this authorEkaterina Staikova PhD, Ekaterina Staikova PhD Department of Neurology, Emory University School of Medicine, Atlanta, Georgia, USASearch for more papers by this authorDavid Loring PhD, David Loring PhD Department of Neurology, Emory University School of Medicine, Atlanta, Georgia, USASearch for more papers by this authorChristine D. Esper MD, Christine D. Esper MD Department of Neurology, Emory University School of Medicine, Atlanta, Georgia, USASearch for more papers by this authorLaura Scorr MD, Laura Scorr MD orcid.org/0000-0002-4569-6393 Department of Neurology, Emory University School of Medicine, Atlanta, Georgia, USASearch for more papers by this authorLenora Higginbotham MD, Lenora Higginbotham MD Department of Neurology, Emory University School of Medicine, Atlanta, Georgia, USA Emory Udall Center of Excellence in Parkinson's Disease Research, Emory National Primate Research Center, Atlanta, Georgia, USASearch for more papers by this authorPratibha Aia MD, Pratibha Aia MD Department of Neurology, Emory University School of Medicine, Atlanta, Georgia, USASearch for more papers by this authorMahlon R. De Long MD, Mahlon R. De Long MD Department of Neurology, Emory University School of Medicine, Atlanta, Georgia, USASearch for more papers by this authorThomas Wichmann MD, Thomas Wichmann MD Department of Neurology, Emory University School of Medicine, Atlanta, Georgia, USA Emory Udall Center of Excellence in Parkinson's Disease Research, Emory National Primate Research Center, Atlanta, Georgia, USASearch for more papers by this authorStewart A. Factor DO, Stewart A. Factor DO orcid.org/0000-0002-0449-973X Department of Neurology, Emory University School of Medicine, Atlanta, Georgia, USA Emory Udall Center of Excellence in Parkinson's Disease Research, Emory National Primate Research Center, Atlanta, Georgia, USASearch for more papers by this authorNicholas Au Yong MD, PhD, Nicholas Au Yong MD, PhD Department of Neurosurgery, Emory University School of Medicine, Atlanta, Georgia, USASearch for more papers by this authorJon T. Willie MD, PhD, Jon T. Willie MD, PhD Department of Neurosurgery, Neurology, and Psychiatry, Washington University School of Medicine, St Louis, Missouri, USASearch for more papers by this authorNicholas M. Boulis MD, Nicholas M. Boulis MD Department of Neurosurgery, Emory University School of Medicine, Atlanta, Georgia, USASearch for more papers by this authorRobert E. Gross MD, PhD, Robert E. Gross MD, PhD Department of Neurosurgery, Emory University School of Medicine, Atlanta, Georgia, USASearch for more papers by this authorCathrin Buetefisch MD, PhD, Cathrin Buetefisch MD, PhD Department of Neurology, Rehabilitation Medicine, and Radiology, Emory University School of Medicine, Atlanta, Georgia, USASearch for more papers by this authorSvjetlana Miocinovic MD, PhD, Corresponding Author Svjetlana Miocinovic MD, PhD [email protected] Department of Neurology, Emory University School of Medicine, Atlanta, Georgia, USA Emory Udall Center of Excellence in Parkinson's Disease Research, Emory National Primate Research Center, Atlanta, Georgia, USA Correspondence to: Svjetlana Miocinovic, Emory University, Department of Neurology, 12 Executive Park NE, Atlanta, GA, 30329, USA; E-mail: [email protected]Search for more papers by this author First published: 19 June 2023 https://doi.org/10.1002/mdc3.13818Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat No abstract is available for this article. References 1Romagnolo A, Fabbri M, Artusi CA, Zibetti M, Lopiano L, Montanaro E. Deep brain stimulation outcomes in Parkinson's disease patients with cognitive impairment: implications and considerations. Mov Disord Clin Pract 2023; 10: 1233–1234. https://doi.org/10.1002/mdc3.13819. 10.1002/mdc3.13819 Web of Science®Google Scholar 2Merola A, Rizzi L, Artusi CA, et al. Subthalamic deep brain stimulation: clinical and neuropsychological outcomes in mild cognitive impaired parkinsonian patients. J Neurol 2014; 261: 1745–1751. 10.1007/s00415-014-7414-8 PubMedWeb of Science®Google Scholar 3Cammisuli DM, Cammisuli SM, Fusi J, Franzoni F, Pruneti C. Parkinson's disease–mild cognitive impairment (PD-MCI): a useful summary of update knowledge. Front Aging Neurosci 2019; 11: 303. 10.3389/fnagi.2019.00303 CASPubMedWeb of Science®Google Scholar Volume10, Issue8August 2023Pages 1235-1236 ReferencesRelatedInformation

To determine the effect of ventral intermediate thalamic nucleus (VIM) deep brain stimulation (DBS) on gait parameters in patients with essential tremor (ET).

ABSTRACTBackgroundAssessing disease severity can be performed using either clinician‐rated scales (CRS) or patient‐rated outcome (PRO) tools. These two measures frequently demonstrate poor correlations.ObjectivesTo determine if the correlation between a CRS and PRO for motor features of cervical dystonia (CD) improves by accounting for non‐motor features.MethodsSubjects with CD (N = 209) were evaluated using a CRS (Toronto Western Spasmodic Torticollis Rating Scale, TWSTRS) and a PRO (Cervical Dystonia Impact Profile, CDIP‐58).ResultsLinear regression revealed a weak correlation between the two measures, even when considering only the motor subscales of each. The strength of this relationship improved with a regression model that included non‐motor symptoms of pain, depression, and disability.ConclusionsThese results argue that the results of motor assessments in a PRO for CD cannot be fully appreciated without simultaneous assessment of non‐motor co‐morbidities. This conclusion might apply to other disorders, especially those with frequent non‐motor co‐morbidities.

There are many possible etiologies for cervical dystonia (CD), but a cause cannot be identified in most cases. Most recent attention has focused on genetic causes, although a few prior studies have highlighted autoimmune mechanisms instead. Because autoimmune disorders frequently co-exist, the current study evaluated the hypothesis that autoimmune disorders might be more common in CD than neurological controls. The frequency of 32 common autoimmune disorders was evaluated using a systematic survey comparing 300 subjects with CD with 391 neurological controls. The frequency of thyroid disease was significantly higher in CD (20%) compared with controls (6%). Regression analyses that accounted for age and sex revealed an odds ratio of 4.5 (95% CI 2.5-8.1, p < 0.001). All other autoimmune disorders occurred with similar frequencies in CD and controls. Although these studies do not establish a mechanistic link between CD and autoimmune disease, they suggest the need for further attention to a potential relationship, and more specifically with thyroid disease.

Objective: Blepharospasm is a type of dystonia where the diagnosis is often delayed because its varied clinical manifestations are not well recognized. The purpose of this study was to provide a comprehensive picture of its clinical features including presenting features, motor features, and non-motor features.Methods: This was a two-part study. The first part involved a systematic literature review that summarized clinical features for 10,324 cases taken from 41 prior reports. The second part involved a summary of clinical features for 884 cases enrolled in a large multicenter cohort collected by the Dystonia Coalition investigators, along with an analysis of the factors that contribute to the spread of dystonia beyond the periocular region.Results: For cases in the literature and the Dystonia Coalition, blepharospasm emerged in the 50s and was more frequent in women. Many presented with non-specific motor symptoms such as increased blinking (51.9%) or non-motor sensory features such as eye soreness or pain (38.7%), photophobia (35.5%), or dry eyes (10.7%). Non-motor psychiatric features were also common including anxiety disorders (34–40%) and depression (21–24%). Among cases presenting with blepharospasm in the Dystonia Coalition cohort, 61% experienced spread of dystonia to other regions, most commonly the oromandibular region and neck. Features associated with spread included severity of blepharospasm, family history of dystonia, depression, and anxiety.Conclusions: This study provides a comprehensive summary of motor and non-motor features of blepharospasm, along with novel insights into factors that may be responsible for its poor diagnostic recognition and natural history.

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.