Video - Wilson disease

Wilson disease is a rare autosomal recessive genetic disorder that causes excessive accumulation of copper in various tissues of the body, particularly the liver, and brain as a result of a mutation in the ATP7B gene. Symptoms of Wilson disease can vary widely and may include fatigue, abdominal pain, muscle stiffness or tremors, and a characteristic brown ring around the cornea of the eye known as a Kayser-Fleischer ring. Over time, copper accumulation in the liver can lead to liver disease and cirrhosis, and copper accumulation in the brain can cause neurological symptoms such as movement disorders, psychiatric symptoms, and cognitive decline.