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Wiley, Movement Disorders, 7(28), p. 889-898, 2013

DOI: 10.1002/mds.25549

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Assessment of patients with isolated or combined dystonia: An update on dystonia syndromes

Journal article published in 2013 by Victor S. C. Fung, H. A. Jinnah, Kailash Bhatia ORCID, Marie Vidailhet
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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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 article, 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 in order to guide diagnostic testing.