Wilsons Disease WD

WD is an autosomal-recessive disorder of copper metabolism. The term "hepatolenticular degeneration" is also used, as it affects the liver and causes movement disorders related to changes in the basal ganglia. The primary problem is a defect in copper metabolism, causing its build-up in the liver, brain and eye. Numerous cognitive, psychiatric and movement disorders may be seen with this disease. The neurologic manifestations include tremor (typically, a proximal or "wing beating tremor"), dystonia, dysmetria, dysrhythmia, ataxia and dysarthria. Testing for WD involves assessment of liver function, ceruloplasmin, serum and urine copper. Liver function abnormalities in the face of low ceruloplasmin and high urinary copper levels should prompt a diagnosis. Slit-lamp examination may reveal Kayser-Fleischer rings and MRI often shows abnormal T2 signal in the basal ganglia. It is important to be able to recognize this syndrome, as treatment is available. The typical patient presents in early or middle adulthood with hepatic, psychiatric and/or neurologic symptoms. The psychiatric or neurologic symptoms may rarely precede the diagnosis of hepatic dysfunction. Medical therapies include reducing copper in the diet, treatment with zinc, penicillamine or trientine. Liver transplantation also provides symptomatic benefit. Thalamotomy has been used in these patients, although, because of the progressive nature of the disease and the availability of medical options, it is rarely performed.

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