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Rev Neurol (Paris). 2013 Feb;169 Suppl 1:S18-22. doi: 10.1016/S0035-3787(13)70055-9.

[Have centers of rare neurological diseases modified practices and the care of Wilson's disease?].

[Article in French]

Author information

1
Centre national de référence pour la Maladie de Wilson, Hôpital Lariboisière (APHP), 2 rue Ambroise Paré, 75010 Paris, France. France.woimant@lrb.aphp.fr

Abstract

Wilson's disease is a particularly rare disease. It is a multisystemic affection related to a genetic abnormality of copper metabolism. Drug treatment is particularly effective if administered at an early stage of the disease and continued throughout life. The French Wilson's disease center, certified for only the one disorder, is easily identifiable by everyone, professionals and patients, which has allowed a rapid increase in the number of patients followed by the center, and considerably reduced the delay between first symptoms and diagnosis. Of its numerous ongoing research projects, it is important to mention the development of a new diagnostic test that would allow the speedy introduction of treatment of both the symptomatic forms and presymptomatic familial forms. Collaborations among professionals permit multidisciplinary care and improve the follow-up of patients in terms of all their medical and social aspects. In addition, the organization of the French Wilson's disease network serves as an exemplar for the implementation of Wilson's disease networks in other European countries and the development of collaborations between Wilson's disease patients'associations across Europe. At present, the center is also working to improve the care of patients presenting with other inherited or acquired pathologies related to copper and other heavy metals.

PMID:
23452766
DOI:
10.1016/S0035-3787(13)70055-9
[Indexed for MEDLINE]

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