title: Assessment of patients with isolated or combined dystonia: an update on dystonia syndromes.
abstract: The clinical evaluation of a patient with dystonia is a stepwise process, beginning with classification of the phenomenology of the movement disorder(s), then formulation of the dystonia syndrome, which, in turn, leads to a targeted etiological differential diagnosis. In recent years, there have been significant advances in our understanding of the etiological basis of dystonia, aided especially by discoveries in imaging and genetics. In this review, we provide an update on the assessment of a patient with dystonia, including the phenomenology of dystonia and highlighting how to integrate clinical, imaging, blood, and neurophysiological investigations in order to formulate a dystonia syndrome. Evolving or emerging dystonia syndromes are reviewed, and potential etiologies of these as well as established dystonia syndromes listed to guide diagnostic testing. © 2013 Movement Disorder Society.
authors.affiliation: Movement Disorders Unit, Department of Neurology, Westmead Hospital and Sydney Medical School, University of Sydney, Sydney, Australia. vscfung@ozemail.com.au
authors.forename: Victor S C
authors.initials: VS
authors.lastname: Fung
authors.forename: H A
authors.initials: HA
authors.lastname: Jinnah
authors.forename: Kailash
authors.initials: K
authors.lastname: Bhatia
authors.forename: Marie
authors.initials: M
authors.lastname: Vidailhet
mesh_terms: D016208:Databases, Factual / Q000706:statistics & numerical data; D003937:Diagnosis, Differential; D004421:Dystonia / Q000145:classification / Q000175:diagnosis* / Q000209:etiology* / Q000503:physiopathology; D006801:Humans; D009069:Movement Disorders / Q000150:complications*; D013577:Syndrome
keywords: diagnosis; differential diagnosis; etiology; phenomenology; secondary dystonia
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