Abstract
Background: The dystonias are phenotypically and etiologically heterogenous disorders. Many proposals and a consensus recommendation have been provided for the diagnosis and classification of the dystonias, but these recommendations serve only as general guidelines. Current diagnosis and classification may still depend on clinical judgment causing different opinions. Objective: To delineate clinical features used by movement disorder specialists in the diagnosis and classification of isolated focal cervical dystonia, and to develop recommendations for a more consistent approach to classification according to anatomical regions involved. Methods: Cross-sectional data for subjects diagnosed with isolated dystonia were acquired from the Dystonia Coalition, an international, multicenter collaborative research network. Data from many movement disorder specialists were evaluated to determine how diagnoses of cervical dystonia related to their recorded examinations. Cases were included if they were given a diagnosis of focal cervical dystonia. Cases were also included if they had dystonia of the neck on exam, but were given an alternative diagnosis such as segmental dystonia. Results: Among 2916 subjects with isolated dystonia, 1258 were diagnosed with focal cervical dystonia. Among these 1258 cases, 28.3% had dystonia outside of the neck region. Regions involved outside of the neck included the shoulder, larynx, and sometimes other regions. Analysis of the results pointed to several factors that may influence specialists' use of current diagnostic guidelines for making a diagnosis of isolated focal cervical dystonia including varied interpretations of involvement of nearby regions (shoulder, larynx, platysma), severity of dystonia across different regions, and occurrence of tremor in different regions. Conclusions: Although focal cervical dystonia is the most common type of dystonia, a high percentage of subjects given this diagnosis had dystonia outside of the neck region. This observation points to the need for more specific guidelines for defining this common disorder. Such guidelines are proposed here.
Original language | English (US) |
---|---|
Pages (from-to) | 183-190 |
Number of pages | 8 |
Journal | Movement Disorders Clinical Practice |
Volume | 9 |
Issue number | 2 |
DOIs | |
State | Published - Feb 2022 |
ASJC Scopus subject areas
- Neurology
- Clinical Neurology
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In: Movement Disorders Clinical Practice, Vol. 9, No. 2, 02.2022, p. 183-190.
Research output: Contribution to journal › Article › peer-review
}
TY - JOUR
T1 - Current Guidelines for Classifying and Diagnosing Cervical Dystonia
T2 - Empirical Evidence and Recommendations
AU - for the Dystonia Coalition Investigators
AU - Kilic-Berkmen, Gamze
AU - Pirio Richardson, Sarah
AU - Perlmutter, Joel S.
AU - Hallett, Mark
AU - Klein, Christine
AU - Wagle-Shukla, Aparna
AU - Malaty, Irene A.
AU - Reich, Stephen G.
AU - Berman, Brian D.
AU - Feuerstein, Jeanne
AU - Vidailhet, Marie
AU - Roze, Emmanuel
AU - Jankovic, Joseph
AU - Mahajan, Abhimanyu
AU - Espay, Alberto J.
AU - Barbano, Richard L.
AU - LeDoux, Mark S.
AU - Pantelyat, Alexander
AU - Frank, Samuel
AU - Stover, Natividad
AU - Berardelli, Alfredo
AU - Leegwater-Kim, Julie
AU - Defazio, Giovanni
AU - Norris, Scott A.
AU - Jinnah, Hyder A.
N1 - Funding Information: AB has no additional disclosures to report. AJE has received grant support from the NIH and the Michael J Fox Foundation; personal compensation as a consultant/scientific advisory board member for Abbvie, Neuroderm, Neurocrine, Amneal, Acadia, Acorda, Kyowa Kirin, Sunovion, Lundbeck, and USWorldMeds; honoraria from Acadia, Sunovion, Amneal, USWorldMeds; and publishing royalties from Lippincott Williams & Wilkins, Cambridge University Press, and Springer. AM has received funding from the Dystonia Medical Research Foundation, Sunflower Parkinson's disease foundation and Parkinson's Foundation for work outside the submitted work. He reports no conflicts of interest. AP has been supported by the National Institutes of Health. He has served as a consultant for US WorldMeds and MedRhythms, Inc. AWS reports grants from the NIH and has received grant support from Benign Essential Blepharospasm Research foundation, Dystonia coalition, Dystonia Medical Research foundation, National Organization for Rare Disorders and grant support from NIH (KL2 and K23 NS092957-01A1). BDB, in the last 24 months, has received research grant support from the Dystonia Coalition (receives the majority of its support through NIH grant NS065701 from the Office of Rare Diseases Research in the National Center for Advancing Translational Science and National Institute of Neurological Disorders and Stroke), Parkinson's Foundation, and the VCU School of Medicine. Funding Information: AB has no additional disclosures to report. AJE has received grant support from the NIH and the Michael J Fox Foundation; personal compensation as a consultant/scientific advisory board member for Abbvie, Neuroderm, Neurocrine, Amneal, Acadia, Acorda, Kyowa Kirin, Sunovion, Lundbeck, and USWorldMeds; honoraria from Acadia, Sunovion, Amneal, USWorldMeds; and publishing royalties from Lippincott Williams & Wilkins, Cambridge University Press, and Springer. AM has received funding from the Dystonia Medical Research Foundation, Sunflower Parkinson's disease foundation and Parkinson's Foundation for work outside the submitted work. He reports no conflicts of interest. AP has been supported by the National Institutes of Health. He has served as a consultant for US WorldMeds and MedRhythms, Inc. AWS reports grants from the NIH and has received grant support from Benign Essential Blepharospasm Research foundation, Dystonia coalition, Dystonia Medical Research foundation, National Organization for Rare Disorders and grant support from NIH (KL2 and K23 NS092957‐01A1). BDB, in the last 24 months, has received research grant support from the Dystonia Coalition (receives the majority of its support through NIH grant NS065701 from the Office of Rare Diseases Research in the National Center for Advancing Translational Science and National Institute of Neurological Disorders and Stroke), Parkinson's Foundation, and the VCU School of Medicine. He is on the medical advisory board of the Benign Essential Blepharospasm Research Foundation and the National Spasmodic Torticollis Association. CK serves as a consultant to Centogene for genetic testing reports in the fields of movement disorders and dementia, excluding Parkinson's disease, and is part of the Scientific Advisory Board of Retromer Therapeutics. ER received research support from Merz‐Pharma, Orkyn, Elivie, Ipsen, Allergan, Everpharma, Fondation Desmarest, AMADYS, Fonds de Dotation Brou de Laurière, Société Française de Médecine Esthétique, ADCY5.org, Agence Nationale de la Recherche. GD has no additional disclosures to report. GKB has no additional disclosures to report. HAJ has active or recent grant support from the US government (National Institutes of Health), private philanthropic organizations (Cure Dystonia Now), and industry (Revance Therapeutics, Inc.). Dr. Jinnah has also served on advisory boards or as a consultant for Addex, Allergan, CoA Therapeutics, Cavion Therapeutics, EnePharmaceuticals, Ipsen, Retrophin, Revance, and Takaha Pharmaceuticals. He has received honoraria or stipends for lectures or administrative work from the International Parkinson's Disease and Movement Disorders Society. Dr. Jinnah serves on the Scientific Advisory Boards for several private foundations including the Benign Essential Blepharospasm Research Foundation, Cure Dystonia Now, the Dystonia Medical Research Foundation, the Tourette Association of America, and Tyler's Hope for a Cure. He also is principle investigator for the Dystonia Coalition, which has received the majority of its support through the NIH (grants NS116025, NS065701 from the National Institutes of Neurological Disorders and Stroke and TR001456 from the Office of Rare Diseases Research at the National Center for Advancing Translational Sciences). The Dystonia Coalition has received additional material or administrative support from industry sponsors (Allergan Inc. and Merz Pharmaceuticals) as well as private foundations (The Benign Essential Blepharospasm Foundation, Cure Dystonia Now, The Dystonia Medical Research Foundation, and The National Spasmodic Dysphonia Association). IAM has participated in research funded by the Parkinson Foundation, Tourette Association, Dystonia Coalition, AbbVie, Boston Scientific, Eli Lilly, Neuroderm, Prilenia, Revance, Teva but has no owner interest in any pharmaceutical company. She has received travel compensation or honoraria from the Tourette Association of America, Parkinson Foundation, Medscape, and Cleveland Clinic, and royalties from Robert Rose publishers. JF has no additional disclosures to report. JJ has received research or training grants from AbbVie Inc; Acadia Pharmaceuticals; Cerevel Therapeutics; CHDI Foundation; Dystonia Coalition; Emalex Biosciences, Inc; F. Hoffmann‐La Roche Ltd; Huntington Study Group; Medtronic Neuromodulation; Merz Pharmaceuticals; Michael J Fox Foundation for Parkinson Research; National Institutes of Health; Neuraly, Inc.; Neurocrine Biosciences; Parkinson's Foundation; Parkinson Study Group; Prilenia Therapeutics; Revance Therapeutics, Inc; Teva Pharmaceutical Industries Ltd. Dr. Jankovic has served as a consultant for Aeon BioPharma; Allergan, Inc; Revance Therapeutics; Teva Pharmaceutical Industries Ltd. Dr. Jankovic has received royalties from Cambridge; Elsevier; Medlink: Neurology; Lippincott Williams and Wilkins; UpToDate; Wiley‐Blackwell. JLK has no additional disclosures to report. JSP was supported by NIH (NINDS/NIA) NS075321, the American Parkinson Disease Association (APDA), the Greater St. Louis Chapter of the APDA, the Barnes Jewish Hospital Foundation (Elliot Stein Family Fund), the Oertli Fund, the Murphy Fund and the Paula and Rodger Riney Fund. MH is an inventor of patents held by NIH for an immunotoxin for the treatment of focal movement disorders and the H‐coil for magnetic stimulation; in relation to the latter, he has received license fee payments from the NIH (from Brainsway). He is on the Medical Advisory Boards of CALA Health and Brainsway (both unpaid positions). He is on the Editorial Board of approximately 15 journals and receives royalties and/or honoraria from publishing from Cambridge University Press, Oxford University Press, Springer, Wiley, Wolters Kluwer, and Elsevier. He has research grants from Medtronic, Inc. for a study of DBS for dystonia and CALA Health for studies of a device to suppress tremor. MH is supported by the NINDS Intramural Program. MSL has been supported by the Dystonia Medical Research Foundation, Benign Essential Blepharospasm Research Foundation, Revance Therapeutics, PharmaTwoB, Michael J Fox Foundation, National Institutes of Health, Cerevel, Aeon, Neurocrine, and Teva Pharmaceutical Industries. He has served as a consultant for US WorldMeds, and speaker for US WorldMeds, Supernus, Amneal, Acadia Pharmaceuticals, Teva Pharmaceutical Industries, Kyowa Kirin, and Acorda Therapeutics. MV has no additional disclosures to report. NS has no additional disclosures to report. RLB has received grant support from the Dystonia Coalition, Revance, and Vaccinex; serves on an advisory board for Acorda, Allergan, Oscine Corporation, and Revance; receives honoraria from Neurology Clinical Practice; and contractual payment from Visual Dx. SAN has active or recent grant support from the US government (National Institutes of Health) and Dystonia Medical Research Foundation. He serves on the Dystonia Medical Research Foundation Medical And Scientific Advisory Council. SF has no additional disclosures to report. SPR has no additional disclosures to report. SR has received research support from the NINDS; served as a consultant for the MDS and Best Doctors; served as reviewer for UpToDate; served as the chair of the Data Safety Monitoring Board of Enterin; and has received book royalties from Springer and Oxford. Funding Information: This work was supported by grants to The Dystonia Coalition (NS065701, TR001456, NS116025) which is part of the National Institutes of Health (NIH) Rare Disease Clinical Research Network (RDCRN), supported by the Office of Rare Diseases Research (ORDR) at the National Center for Advancing Translational Science (NCATS), and the National Institute of Neurological Diseases and Stroke (NINDS). TD also was supported in part by training grant NINDS T32‐NS007480 at Emory University. The authors have no conflicts of interest to report. Publisher Copyright: © 2021 International Parkinson and Movement Disorder Society
PY - 2022/2
Y1 - 2022/2
N2 - Background: The dystonias are phenotypically and etiologically heterogenous disorders. Many proposals and a consensus recommendation have been provided for the diagnosis and classification of the dystonias, but these recommendations serve only as general guidelines. Current diagnosis and classification may still depend on clinical judgment causing different opinions. Objective: To delineate clinical features used by movement disorder specialists in the diagnosis and classification of isolated focal cervical dystonia, and to develop recommendations for a more consistent approach to classification according to anatomical regions involved. Methods: Cross-sectional data for subjects diagnosed with isolated dystonia were acquired from the Dystonia Coalition, an international, multicenter collaborative research network. Data from many movement disorder specialists were evaluated to determine how diagnoses of cervical dystonia related to their recorded examinations. Cases were included if they were given a diagnosis of focal cervical dystonia. Cases were also included if they had dystonia of the neck on exam, but were given an alternative diagnosis such as segmental dystonia. Results: Among 2916 subjects with isolated dystonia, 1258 were diagnosed with focal cervical dystonia. Among these 1258 cases, 28.3% had dystonia outside of the neck region. Regions involved outside of the neck included the shoulder, larynx, and sometimes other regions. Analysis of the results pointed to several factors that may influence specialists' use of current diagnostic guidelines for making a diagnosis of isolated focal cervical dystonia including varied interpretations of involvement of nearby regions (shoulder, larynx, platysma), severity of dystonia across different regions, and occurrence of tremor in different regions. Conclusions: Although focal cervical dystonia is the most common type of dystonia, a high percentage of subjects given this diagnosis had dystonia outside of the neck region. This observation points to the need for more specific guidelines for defining this common disorder. Such guidelines are proposed here.
AB - Background: The dystonias are phenotypically and etiologically heterogenous disorders. Many proposals and a consensus recommendation have been provided for the diagnosis and classification of the dystonias, but these recommendations serve only as general guidelines. Current diagnosis and classification may still depend on clinical judgment causing different opinions. Objective: To delineate clinical features used by movement disorder specialists in the diagnosis and classification of isolated focal cervical dystonia, and to develop recommendations for a more consistent approach to classification according to anatomical regions involved. Methods: Cross-sectional data for subjects diagnosed with isolated dystonia were acquired from the Dystonia Coalition, an international, multicenter collaborative research network. Data from many movement disorder specialists were evaluated to determine how diagnoses of cervical dystonia related to their recorded examinations. Cases were included if they were given a diagnosis of focal cervical dystonia. Cases were also included if they had dystonia of the neck on exam, but were given an alternative diagnosis such as segmental dystonia. Results: Among 2916 subjects with isolated dystonia, 1258 were diagnosed with focal cervical dystonia. Among these 1258 cases, 28.3% had dystonia outside of the neck region. Regions involved outside of the neck included the shoulder, larynx, and sometimes other regions. Analysis of the results pointed to several factors that may influence specialists' use of current diagnostic guidelines for making a diagnosis of isolated focal cervical dystonia including varied interpretations of involvement of nearby regions (shoulder, larynx, platysma), severity of dystonia across different regions, and occurrence of tremor in different regions. Conclusions: Although focal cervical dystonia is the most common type of dystonia, a high percentage of subjects given this diagnosis had dystonia outside of the neck region. This observation points to the need for more specific guidelines for defining this common disorder. Such guidelines are proposed here.
UR - http://www.scopus.com/inward/record.url?scp=85120417230&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85120417230&partnerID=8YFLogxK
U2 - 10.1002/mdc3.13376
DO - 10.1002/mdc3.13376
M3 - Article
C2 - 35146058
AN - SCOPUS:85120417230
SN - 2330-1619
VL - 9
SP - 183
EP - 190
JO - Movement Disorders Clinical Practice
JF - Movement Disorders Clinical Practice
IS - 2
ER -