Hereditary Dystonia Overview

Christine Klein; Katja Lohmann; Connie Marras; Alexander Münchau

Hereditary Dystonia Overview

Review

In: GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993.

2003 Oct 28 [updated 2017 Jun 22].

Authors

Christine Klein¹, Katja Lohmann², Connie Marras³, Alexander Münchau¹

Book Editors

Margaret P Adam, Jerry Feldman, Ghayda M Mirzaa, Roberta A Pagon, Stephanie E Wallace, Anne Amemiya

Affiliations

¹ Institute of Neurogenetics and Department of Neurology, University of Lübeck, Lübeck, Germany
² Institute of Neurogenetics, University of Lübeck, Lübeck, Germany
³ Movement Disorders Centre, Toronto Western Hospital, University of Toronto, Toronto, Canada

PMID: 20301334
Bookshelf ID: NBK1155

Excerpt

The purpose of this overview on hereditary dystonia is to help clinicians determine if an individual has a hereditary dystonia in order to provide information regarding recurrence risk and evaluation of relatives at risk.

Goal 1: Describe the clinical characteristics of dystonia.

Goal 2: Review the causes of hereditary dystonia.

Goal 3: Provide an evaluation strategy to determine the etiology of hereditary dystonia in a proband.

Goal 4: Review the differential diagnosis of hereditary dystonia (i.e., non-genetic causes of dystonia).

Goal 5: Provide information regarding recurrence risk and evaluation of relatives of a proband with hereditary dystonia who are at risk.

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Review