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Wilson disease is an autosomal recessive disorder of copper metabolism. Copper accumulation in tissues and organs can lead to liver disease, neurological symptoms including movement disorders, dysarthria, dystonia, migraines and seizures; and psychiatric symptoms including depression, personality changes and psychoses. Many individuals will have characteristic changes to their cornea called Kayser-Fleischer rings.
The age of onset can be from childhood to adulthood; signs and symptoms are rarely observed in children under 3 years of age. Children tend to present with liver disease as their primary symptom, whereas most neurological and psychiatric symptoms tend to arise in adulthood.
Full gene sequencing will identify greater than 98% of mutations in affected individuals.
Carrier testing for biological family members is available once mutations are known.
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