Phenomenology and classification of dystonia: A consensus update

• Type of Material: Article
• Authors: Alberto Albanese, Università Cattolica del Sacro Cuore; Kailash Bhatia, UCL Institute of Neurology, London; Susan B. Bressman, Beth Israel Medical Center; Mahlon DeLong, Emory University; Stanley Fahn, Columbia University; Victor S.C. Fung, University of Sydney; Mark Hallett, National Institute of Neurological Disorders and Stroke; Joseph Jankovic, Baylor College of Medicine; Hyder Jinnah, Emory University; Christine Klein, University of Lübeck; Anthony E. Lang, University of Toronto; Jonathan W. Mink, University of Rochester; Jan K. Teller, Dystonia Medical Research Foundation
• Language: English
• Date: 2013-06-15
• Publisher: Wiley
• Publication Version: Author Accepted Manuscript (After Peer Review)
• Copyright Statement: © 2013 Movement Disorder Society.
• Final Published Version (URL): http://dx.doi.org/10.1002/mds.25475
• Title of Journal or Parent Work: Movement Disorders
• ISSN: 0885-3185
• Volume: 28
• Issue: 7
• Start Page: 863
• End Page: 873
• Grant/Funding Information: The efforts of the consensus committee were supported by the Dystonia Medical Research Foundation, The Dystonia Coalition, the European Dystonia COST Action and unrestricted educational grants from Merz GmbH and Ipsen Pharma.
• Keywords: DYT1 PHENOTYPE; DIAGNOSIS; Life Sciences & Biomedicine; Neurosciences & Neurology; GUIDELINES; DISEASE; definition; dystonia; Clinical Neurology; BLEPHAROSPASM; Science & Technology; classification
• Research Categories: Health Sciences, Medicine and Surgery; Biology, Neuroscience

Abstract

This report describes the consensus outcome of an international panel consisting of investigators with years of experience in this field that reviewed the definition and classification of dystonia. Agreement was obtained based on a consensus development methodology during 3 in-person meetings and manuscript review by mail. 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. Dystonia is classified along 2 axes: clinical characteristics, including age at onset, body distribution, temporal pattern and associated features (additional movement disorders or neurological features); and etiology, which includes nervous system pathology and inheritance. The clinical characteristics fall into several specific dystonia syndromes that help to guide diagnosis and treatment. We provide here a new general definition of dystonia and propose a new classification. We encourage clinicians and researchers to use these innovative definition and classification and test them in the clinical setting on a variety of patients with dystonia.