Overview

What Is Wilson Disease?

Wilson disease is a rare genetic disorder that causes excessive copper accumulation in the liver or brain. Unless detected and treated early, it can result in liver disease, psychiatric symptoms or neurologic symptoms. Wilson disease affects approximately 1 in 30,000 people worldwide. You are more likely to have the disease if you have a family history of the disorder. Wilson disease affects both men and women equally.

Key points

  • Wilson disease is a rare genetic disorder that prevents your body from getting rid of extra copper in your system.
  • Too much copper builds up in your liver and collects in other organs, as well as in your eyes and brain.
  • Your organs become damaged. Over time it can be life-threatening.
  • It can be difficult to diagnose. Many of the symptoms are also symptoms of other diseases.
  • Lifelong treatment is needed to reduce the amount of copper in your body.

The Northwestern Medicine Movement Disorders Center is one of six world-wide Wilson Disease Centers of Excellence. It is our goal to improve the quality of patient care in Wilson disease, advance knowledge about the disease, and provide support for those dealing with the disease as well as their families. We do this by:

  • Using a multidisciplinary approach to the diagnosis and treatment. This includes a collaboration of experts in the fields such as adult and pediatric neurology, hepatology, psychiatry, nursing, genetics and social work.
  • Promoting participation in clinical research trials and the development of a Wilson disease database registry.

Northwestern Medicine has earned designation as a Center of Excellence from the Wilson Disease Association. This demonstrates our commitment to optimizing Wilson disease care, and diagnosis and follow-up of people affected by the disease.

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  • Autosomal Recessive Inheritance: Genes are the blueprints for making the substances, called proteins, our bodies need to develop and work properly. A mutation is a change in a gene that causes it to be different from the copy inherited from either parent.