Gamze Kilic-Berkmen1, Sarah Pirio Richardson2, Joel S Perlmutter3, Mark Hallett4, Christine Klein5, Aparna Wagle-Shukla6, Irene A Malaty6, Stephen G Reich7, Brian D Berman8, Jeanne Feuerstein9, Marie Vidailhet10, Emmanuel Roze10, Joseph Jankovic11, Abhimanyu Mahajan12, Alberto J Espay13, Richard L Barbano14, Mark S LeDoux15, Alexander Pantelyat16, Samuel Frank17, Natividad Stover18, Alfredo Berardelli19, Julie Leegwater-Kim20, Giovanni Defazio21, Scott A Norris22, Hyder A Jinnah1,23. 1. Department of Neurology Emory University School of Medicine Atlanta Georgia USA. 2. Department of Neurology University of New Mexico Health Sciences Center Albuquerque New Mexico USA. 3. Department of Neurology, Radiology, Neuroscience, Physical Therapy and Occupational Therapy Washington University School of Medicine St Louis Missouri USA. 4. Human Motor Control Section, National Institute of Neurological Disorders and Stroke (NINDS) National Institute of Health (NIH) Bethesda Maryland USA. 5. Institute of Neurogenetics and Department of Neurology University of Luebeck and University Hospital of Schleswig-Holstein Luebeck Germany. 6. Fixel Institute for Neurological Disease, University of Florida Department of Neurology University of Florida Gainesville Florida USA. 7. Department of Neurology University of Maryland School of Medicine Baltimore Batimore Maryland USA. 8. Department of Neurology Virginia Commonwealth University Richmond Virginia USA. 9. Department of Neurology University of Colorado Aurora Colorado USA. 10. Sorbonne University, Paris Brain Institute, Inserm, CNRS AP-HP, Salpetrière Hospital Paris France. 11. Department of Neurology, Parkinson's Disease Center and Movement Disorders Clinic Baylor College of Medicine Houston Texas USA. 12. Rush Parkinson's Disease and Movement Disorders Program, Department of Neurological Sciences Chicago Illinois USA. 13. James J and Joan A Gardner Center for Parkinson's Disease and Movement Disorders University of Cincinnati Academic Health Center Cincinnati Ohio USA. 14. Department of Neurology University of Rochester Rochester New York USA. 15. Department of Psychology University of Memphis Memphis Tennessee USA. 16. Department of Neurology Johns Hopkins University School of Medicine Batimore Maryland USA. 17. Beth Israel Deaconess Medical Center Harvard Medical School Boston Massachusetts USA. 18. Department of Neurology University of Alabama at Birmingham Birmingham Alabama USA. 19. Department of Human Neuroscience Sapienza University of Rome, Italy; IRCCS Neuromed Pozzilli Italy. 20. Lahey Hospital and Medical Center Tufts University School Of Medicine Burlington Massachusetts USA. 21. Department of Medical Sciences and Public Health University of Cagliari Cagliari Italy. 22. Department of Neurology and Radiology Washington University School of Medicine St. Louis Missouri USA. 23. Department of Human Genetics Emory University School of Medicine Atlanta Georgia USA.
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.
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.
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Authors: Alberto Albanese; Kailash Bhatia; Susan B Bressman; Mahlon R Delong; Stanley Fahn; Victor S C Fung; Mark Hallett; Joseph Jankovic; Hyder A Jinnah; Christine Klein; Anthony E Lang; Jonathan W Mink; Jan K Teller Journal: Mov Disord Date: 2013-05-06 Impact factor: 10.338
Authors: Scott A Norris; H A Jinnah; Alberto J Espay; Christine Klein; Norbert Brüggemann; Richard L Barbano; Irene Andonia C Malaty; Ramon L Rodriguez; Marie Vidailhet; Emmanuel Roze; Stephen G Reich; Brian D Berman; Mark S LeDoux; Sarah Pirio Richardson; Pinky Agarwal; Zoltan Mari; William G Ondo; Ludy C Shih; Susan H Fox; Alfredo Berardelli; Claudia M Testa; Florence Ching-Fen Cheng; Daniel Truong; Fatta B Nahab; Tao Xie; Mark Hallett; Ami R Rosen; Laura J Wright; Joel S Perlmutter Journal: Mov Disord Date: 2016-10-18 Impact factor: 10.338
Authors: Brian D Berman; Christopher L Groth; Stefan H Sillau; Sarah Pirio Richardson; Scott A Norris; Johanna Junker; Norbert Brüggemann; Pinky Agarwal; Richard L Barbano; Alberto J Espay; Joaquin A Vizcarra; Christine Klein; Tobias Bäumer; Sebastian Loens; Stephen G Reich; Marie Vidailhet; Cecilia Bonnet; Emmanuel Roze; Hyder A Jinnah; Joel S Perlmutter Journal: J Neurol Neurosurg Psychiatry Date: 2019-12-17 Impact factor: 10.154
Authors: Gamze Kilic-Berkmen; Laura J Wright; Joel S Perlmutter; Cynthia Comella; Mark Hallett; Jan Teller; Sarah Pirio Richardson; David A Peterson; Carlos Cruchaga; Codrin Lungu; H A Jinnah Journal: Front Neurol Date: 2021-04-08 Impact factor: 4.003