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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 ].
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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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References

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    1. Brashear A, Dobyns WB, de Carvalho Aguiar P, Borg M, Frijns CJ, Gollamudi S, Green A, Guimaraes J, Haake BC, Klein C, Linazasoro G, Münchau A, Raymond D, Riley D, Saunders-Pullman R, Tijssen MA, Webb D, Zaremba J, Bressman SB, Ozelius LJ. The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene. Brain. 2007;130:828-35. - PubMed
    1. Bressman SB, Sabatti C, Raymond D, de Leon D, Klein C, Kramer PL, Brin MF, Fahn S, Breakefield X, Ozelius LJ, Risch NJ. The DYT1 phenotype and guidelines for diagnostic testing. Neurology. 2000;54:1746-52. - PubMed
    1. Bruyn GW, Went CN. Huntington's chorea. In: Vinken PJ, Bruyn GW, Klawans HL, eds. Handbook of Clinical Neurology. Amsterdam, Netherlands: North Holland Publishing Company; 1986:267-314.

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