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Wilson’s Disease 

Wilson’s Disease
Chapter:
Wilson’s Disease
Author(s):

Roger M. Kurlan

DOI:
10.1093/med/9780199925643.003.0011
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date: 21 April 2021

Wilson’s disease (WD) is an autosomal recessive disorder of copper metabolism that is caused by a mutation in the gene ATP7B. Patients with WD can present with a hyperkinetic movement disorder usually consisting of dystonia and tremor. Chorea may also occur. Other neurological manifestations can include parkinsonism, cerebellar signs, pseudobulbar features, drooling, and seizures. Dementia and psychiatric features are also potential presenting or associated features. Patients may present with a variety of different systemic disturbances most commonly involving the liver, kidneys, bone marrow, skeleton and eyes. The illness is curable with appropriate therapy that typically includes a low-copper diet and the use of decoppering medications. Careful long-term clinical and laboratory monitoring is needed to ensure effective therapy. Relatives of affected individuals should be tested and treated if they have WD in order to prevent clinical expression.

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