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Wilson's disease or hepatolenticular degeneration is an autosomal recessive genetic disorder in which copper accumulates in tissues; this manifests as neurological or psychiatric symptoms and liver disease. It is treated with medication that reduces copper absorption or removes the excess copper from the body, but occasionally a liver transplant is required.

The condition is due to mutations in the Wilson disease protein (ATP7B) gene. A single abnormal copy of the gene is present in 1 in 100 people, who do not develop any symptoms (they are carriers). If a child inherits the gene from both parents, he may develop Wilson's disease. Symptoms usually appear between the ages of 6 and 20 years, but cases in much older patients have been described. Wilson's disease occurs in 1 to 4 per 100,000 people. Wilson's disease is named after Dr. Samuel Alexander Kinnier Wilson (1878-1937), the British neurologist who first described the condition in 1912.

The main sites of copper accumulation are the liver and the brain, and consequently liver disease and neuropsychiatric symptoms are the main features that lead to diagnosis. Patients with liver problems tend to come to medical attention earlier, generally as children or teenagers, than those with neurological and psychiatric symptoms, who tend to be in their twenties or older. Some are identified only because relatives have been diagnosed with Wilson's disease; many of these patients, when tested, turn out to have been experiencing symptoms of the condition but haven't received a diagnosis.
Specific neurological symptoms then follow, often in the form of parkinsonism (increased rigidity and slowing of routine movements) with or without a typical hand tremor, ataxia (lack of coordination) or dystonia (twisting and repetitive movements of part of the body). Seizures and migraine appear to be more common in Wilson's disease.

Psychiatric problems due to Wilson's disease may include behavioral changes, depression, anxiety and psychosis.

Links to other Wilson's Disease sites and help:

http://www.wilsonsdisease.org/

http://www.wilsonsdisease.org.uk

http://www.childliverdisease.org/

http://www.medicalgenetics.med.ualberta.ca/wilson/index.php

http://ghr.nlm.nih.gov/condition=wilsondisease

Information on this site was reproduced from the Wilson's Disease Wikipedia page.  We would like to acknowledge the authors of this site and their work in the field of Wilson's Disease.
 

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This site was last updated 04/03/13