Gamze Kilic-Berkmen1, Giovanni Defazio2, Mark Hallett3, Alfredo Berardelli4, Gina Ferrazzano5, Daniele Belvisi4, Christine Klein6, Tobias Bäumer7, Anne Weissbach8, Joel S Perlmutter9, Jeanne Feuerstein10, H A Jinnah11. 1. Department of Neurology, Emory University School of Medicine, Atlanta, GA, USA. 2. Department of Medical Sciences and Public Health, University of Cagliari, Cagliari, Italy. 3. Human Motor Control Section, National Institute of Neurological Disorders and Stroke, National Institute of Health, Bethesda, MD, USA. 4. Department of Human Neuroscience, Sapienza University of Rome, Viale dell'Università 30, 00185 Rome, Italy; IRCCS NEUROMED, Via Atinense 18, 86077 Pozzilli, Italy. 5. Department of Human Neuroscience, Sapienza University of Rome, Viale dell'Università 30, 00185 Rome, Italy. 6. Institute of Neurogenetics and Department of Neurology, University of Luebeck, University Hospital of Schleswig-Holstein, Campus Luebeck, Luebeck, Germany. 7. Institute of System Motor Science, University of Lübeck, Ratzeburger Allee 160, Lübeck, Germany. 8. Institute of Neurogenetics and Department of Neurology, University of Luebeck, University Hospital of Schleswig-Holstein, Campus Luebeck, Luebeck, Germany; Institute of System Motor Science, University of Lübeck, Ratzeburger Allee 160, Lübeck, Germany. 9. Department of Neurology, Radiology, Neuroscience, Physical Therapy and Occupational Therapy, Washington University School of Medicine, St Louis, MO, USA. 10. Department of Neurology, University of Colorado, Aurora, CO, USA. 11. Department of Neurology, Emory University School of Medicine, Atlanta, GA, USA; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA. Electronic address: hjinnah@emory.edu.
Abstract
BACKGROUND: Blepharospasm is one of the most common subtypes of dystonia, and often spreads to other body regions. Despite published guidelines, the approach to diagnosis and classification of affected body regions varies among clinicians. OBJECTIVE: To delineate the clinical features used by movement disorder specialists in the diagnosis and classification of blepharospasm according to body regions affected, and to develop recommendations for a more consistent approach. METHODS: Cross-sectional data for subjects diagnosed with all types of isolated dystonia were acquired from the Dystonia Coalition, an international, multicenter collaborative research network. Data were evaluated to determine how examinations recorded by movement disorder specialists were used to classify blepharospasm as focal, segmental, or multifocal. RESULTS: Among all 3222 participants with isolated dystonia, 210 (6.5%) had a diagnosis of focal blepharospasm. Among these 210 participants, 34 (16.2%) had dystonia outside of upper face region. Factors such as dystonia severity across different body regions and number of body regions affected influenced the classification of blepharospasm as focal, segmental, or multifocal. CONCLUSIONS: Although focal blepharospasm is the second most common type of dystonia, a high percentage of individuals given this diagnosis had dystonia outside of the eye/upper face region. These findings are not consistent with existing guidelines for the diagnosis and classification of focal blepharospasm, and point to the need for more specific guidelines for more consistent application of existing recommendations for diagnosis and classification.
BACKGROUND: Blepharospasm is one of the most common subtypes of dystonia, and often spreads to other body regions. Despite published guidelines, the approach to diagnosis and classification of affected body regions varies among clinicians. OBJECTIVE: To delineate the clinical features used by movement disorder specialists in the diagnosis and classification of blepharospasm according to body regions affected, and to develop recommendations for a more consistent approach. METHODS: Cross-sectional data for subjects diagnosed with all types of isolated dystonia were acquired from the Dystonia Coalition, an international, multicenter collaborative research network. Data were evaluated to determine how examinations recorded by movement disorder specialists were used to classify blepharospasm as focal, segmental, or multifocal. RESULTS: Among all 3222 participants with isolated dystonia, 210 (6.5%) had a diagnosis of focal blepharospasm. Among these 210 participants, 34 (16.2%) had dystonia outside of upper face region. Factors such as dystonia severity across different body regions and number of body regions affected influenced the classification of blepharospasm as focal, segmental, or multifocal. CONCLUSIONS: Although focal blepharospasm is the second most common type of dystonia, a high percentage of individuals given this diagnosis had dystonia outside of the eye/upper face region. These findings are not consistent with existing guidelines for the diagnosis and classification of focal blepharospasm, and point to the need for more specific guidelines for more consistent application of existing recommendations for diagnosis and classification.
Authors: Martje E van Egmond; Maria Fiorella Contarino; Coen H A Lugtenberg; Kathryn J Peall; Oebele F Brouwer; Victor S C Fung; Emmanuel Roze; Roy E Stewart; Michel A Willemsen; Nicole I Wolf; Tom J de Koning; Marina A Tijssen Journal: Mov Disord Date: 2019-02-06 Impact factor: 10.338
Authors: L Williams; E McGovern; O Kimmich; A Molloy; I Beiser; J S Butler; F Molloy; P Logan; D G Healy; T Lynch; R Walsh; L Cassidy; P Moriarty; H Moore; T McSwiney; C Walsh; S O'Riordan; M Hutchinson Journal: Eur J Neurol Date: 2016-09-19 Impact factor: 6.089
Authors: Gamze Kilic-Berkmen; Sarah Pirio Richardson; Joel S Perlmutter; Mark Hallett; Christine Klein; Aparna Wagle-Shukla; Irene A Malaty; Stephen G Reich; Brian D Berman; Jeanne Feuerstein; Marie Vidailhet; Emmanuel Roze; Joseph Jankovic; Abhimanyu Mahajan; Alberto J Espay; Richard L Barbano; Mark S LeDoux; Alexander Pantelyat; Samuel Frank; Natividad Stover; Alfredo Berardelli; Julie Leegwater-Kim; Giovanni Defazio; Scott A Norris; Hyder A Jinnah Journal: Mov Disord Clin Pract Date: 2021-12-01
Authors: G Abbruzzese; A Berardelli; P Girlanda; R Marchese; D Martino; F Morgante; L Avanzino; C Colosimo; G Defazio Journal: J Neurol Neurosurg Psychiatry Date: 2007-07-17 Impact factor: 10.154