Show Summary Details
Page of

Other inherited secondary (symptomatic) dystonias 

Other inherited secondary (symptomatic) dystonias
Chapter:
Other inherited secondary (symptomatic) dystonias
Author(s):

Ivan Donaldson

, C. David Marsden

, Susanne A. Schneider

, and Kailash P. Bhatia

DOI:
10.1093/med/9780192619112.003.1034
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: 30 October 2020

This chapter describes a group of inherited symptomatic dystonias; their historical backgrounds, clinical manifestations, pathology and management are discussed. In this chapter Inherited symptomatic dystonias are separated into degenerative, congenital and the large number of metabolic defects that can cause dystonia. Those inherited secondary dystonias classified as degenerative include Pelizaeus-Merzbacher disease and infantile leukodydtrophy with basal ganglia calcification, both of which are discussed in detail in this chapter, with their history, clinical signs and management described. Hereditary athetotic hemiplegia is the only congenital disorder addressed, and is thought to be an autosomal dominant trait with incomplete penetrance. Metabolic defects that cause dystonia include disordered copper metabolism (e.g. Wilson’s disease), lipid storage disorders (e.g. Tay-Sach’s disease), carbohydrate disorders and amino and organic acid disorders. The standard clinical presentation is discussed, with many of the disorders presenting with cognitive defects, pyramidal signs, incoordination and ataxia, epilepsy, visual disturbances, neuropathy, hepatosplenomegaly or skeletal lesions.

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.