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Review

Hereditary Dystonia Overview

Christine Klein  1 , Katja Lohmann  2 , Connie Marras  3 , Alexander Münchau  1
Margaret P Adam, Jerry Feldman, Ghayda M Mirzaa, Roberta A Pagon, Stephanie E Wallace, Anne Amemiya
, editors.
In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993.
[updated ].
Affiliations
Free Books & Documents
Review

Hereditary Dystonia Overview

Christine Klein et al.
Free Books & Documents

Excerpt

The purpose of this overview is to:

  1. 1

    Describe the clinical characteristics of dystonia;

  2. 2

    Review the causes of hereditary dystonia;

  3. 3

    Provide an evaluation strategy to determine the etiology of hereditary dystonia in a proband;

  4. 4

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

  5. 5

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

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