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SHARE: Wilson Disease
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            What is Wilson disease?

Wilson disease (WD) is a rare inherited disorder in which an excessive amount of copper accumulates in the body. The buildup of copper leads to damage in the liver, brain, and eyes. Although copper accumulation begins at birth, symptoms of the disorder only appear later in life. The most characteristic sign of WD is the Kayser-Fleisher ring—a rusty brown ring around the cornea of the eye that can best be viewed using an ophthalmologist's slit lamp.

The primary consequence for most individuals with WD is liver disease, appearing in late childhood or early adolescence as acute hepatitis, liver failure, or progressive chronic liver disease in the form of chronic active hepatitis or cirrhosis of the liver. In others, the first symptoms are neurological, occur later in adulthood, and commonly include:

Slurred speech (dysarthria)
	Difficulty swallowing (dysphagia)
	DroolingOther symptoms may include:

Tremor of the head, arms, or legs
	Impaired muscle tone
	Sustained muscle contractions that produce abnormal postures, twisting, and repetitive movements (dystonia)
	Slowness of movements (bradykinesia)Individuals may also experience clumsiness (ataxia) and loss of fine motor skills. One-third of individuals with WD will also experience psychiatric symptoms such as:

An abrupt personality change
	Bizarre and inappropriate behavior
	Depression accompanied by suicidal thoughts
	Neurosis
	PsychosisWD is diagnosed using tests that measure the amount of copper in the blood, urine, and liver.The disease requires lifelong treatment, generally using drugs that remove excess copper from the body and prevent it from re-accumulating.

A low-copper diet is also recommended, which involves avoiding:

Mushrooms
	Nuts
	Chocolate
	Dried fruit
	Liver
	ShellfishIn rare cases where there is severe liver disease, a liver transplant may be needed. Medication may be used to treat muscle spasm, stiffness, and tremor.

If the disorder is detected early and treated appropriately, an individual with WD can usually enjoy normal health and a normal lifespan. If not treated, however, WD can cause brain damage, liver failure, and death.

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Learn About Clinical Trials

Clinical trials are studies that allow us to learn more about disorders and improve care. They can help connect patients with new and upcoming treatment options.

How can I or my loved one help improve care for people with Wilson disease?

Consider participating in a clinical trial so clinicians and scientists can learn more about WD and related disorders.  Clinical research uses human volunteers to help researchers learn more about a disorder and perhaps find better ways to safely detect, treat, or prevent disease.

All types of volunteers are needed—those who are healthy or may have an illness or disease—of all different ages, sexes, races, and ethnicities to ensure that study results apply to as many people as possible, and that treatments will be safe and effective for everyone who will use them.

For information about participating in clinical research visitNIH Clinical Research Trials and You. Learn about clinical trials currently looking for people with WD atClinicaltrials.gov.

Where can I find more information about Wilson disease?

Information may be available from the following resources:

American Liver FoundationPhone: 800-465-4837 or 212-668-1000

March of DimesPhone: 888-663-4637

MedlinePlus

National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)Phone: 301-496-3583 or 866-569-1162

Wilson Disease AssociationPhone: 414-961-0533 or 866-961-0533
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The NINDS Publication Catalog offers printed materials on neurological disorders for patients, health professionals, and the general public. All materials are free of charge, and a downloadable PDF version is also available for most publications. Health Information
  
    

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      Last reviewed on November 28, 2023
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