Show Summary Details
Page of

Dystonia: An Overview 

Dystonia: An Overview
Chapter:
Dystonia: An Overview
Author(s):

K.P. Bhatia

, M. Stamelou

, and S. Bressman

DOI:
10.1093/med/9780199609536.003.0017
Page of

PRINTED FROM OXFORD MEDICINE ONLINE (www.oxfordmedicine.com). © Oxford University Press, 2020. All Rights Reserved. Under the terms of the licence agreement, an individual user may print out a PDF of a single chapter of a title in Oxford Medicine Online for personal use (for details see Privacy Policy and Legal Notice).

date: 05 December 2020

Dystonia is a movement disorder characterized by sustained muscle contractions which cause twisting and repetitive movements or abnormal postures. Dystonia is a feature of a heterogeneous group of disorders with various aetiologies, pathophysiology, and phenotypes. Primary dystonias include conditions in which dystonia is the only sign (e.g. DYT1/6), while in dystonia-plus syndromes further signs are present (e.g. DYT5/11); in both primary and dystonia-plus syndromes there is no secondary cause or neurodegeneration. Eleven genes have been identified as causing these disorders, and the phenotypic spectrum varies from young-onset generalized or adult-onset focal dystonia to complex clinical pictures with parkinsonism, myoclonus, or paroxysmal forms. Dystonia can also be secondary to an identified neurological condition (e.g. brain lesions, infections, use of dopamine receptor blocking drugs) or heredodegenerative, when dystonia is a feature amongst other signs of a heredodegenerative disorder (e.g. Wilson’s disease). The differential diagnosis between primary/dystonia-plus and secondary/heredodegenerative dystonia is dictated by clinical clues (age of onset, distribution, other signs), but also by supportive investigations, and is crucial for genetic counselling, prognosis and treatment. Primary dystonias plateau after some years and their distribution depends on age at onset, while heredodegenerative dystonias tend to progress and their distribution depends on the underlying condition. With regard to treatment, botulinum toxin injections are the first-line treatment for primary adult-onset craniocervical dystonia, oral treatment and deep brain stimulation of the internal segment of the globus pallidus seem to be more efficacious for young-onset generalized forms, and the treatment of secondary/heredodegenerative dystonias depends on the underlying condition.

Access to the complete content on Oxford Medicine Online requires a subscription or purchase. Public users are able to search the site and view the abstracts for each book and chapter without a subscription.

Please subscribe or login to access full text content.

If you have purchased a print title that contains an access token, please see the token for information about how to register your code.

For questions on access or troubleshooting, please check our FAQs, and if you can't find the answer there, please contact us.