NINDS Wilson's Disease Information Page
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Is there any treatment?
What is the prognosis?
What research is being done?
Clinical Trials
Organizations
Additional resources from MEDLINEplus
What is Wilson's Disease?
Wilson’s disease (WD) is a rare inherited disorder in which excessive amounts of copper accumulate in the body. The buildup of copper leads to damage in the kidneys, brain, and eyes. Although copper accumulation begins at birth, symptoms of the disorder appear later in life. The most characteristic symptom 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 of those 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 occur later in adulthood and most commonly include slurred speech (dysarthria), difficulty swallowing (dysphagia), and drooling. Other symptoms may include tremor of the head, arms, or legs; impaired muscle tone, and sustained muscle contractions that produce abnormal postures, twisting, and repetitive movements (dystonia); and slowness of movements (bradykinesia). Individuals may also experience clumsiness (ataxia) and loss of fine motor skills. A third of those with WD will also experience psychiatric symptoms such as an abrupt personality change, bizarre and inappropriate behavior, depression accompanied by suicidal thoughts, neurosis, or psychosis. WD is diagnosed with tests that measure the amount of copper in the blood, urine, and liver.
Is there any treatment?
WD requires lifelong treatment, generally using drugs to remove excess copper from the body and to prevent it from re-accumulating.
Zinc salt, which blocks the absorption of copper in the stomach and causes no serious side effects, is often considered the
treatment of choice. Penicillamine and trientine increase urinary excretion of copper; however, both drugs can cause serious
side effects. Tetrathiomolybdate is an investigational drug with a lower toxic profile, but it has not been approved by the
Food and Drug Administration for the treatment of WD and its long-term safety and effectiveness aren’t known. A low-copper
diet may also be recommended, which involves avoiding mushrooms, nuts, chocolate, dried fruit, liver, and shellfish. In rare
cases where there is severe liver disease, a liver transplant may be needed. Symptomatic treatment for symptoms of muscle
spasm, stiffness, and tremor may include anticholinergics, tizanidine, baclofen, levodopa, or clonazepam.
What is the prognosis?
Early onset of the disease is worse than late onset in terms of prognosis. 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, WD can cause
severe brain damage, liver failure, and death. The disease requires lifelong treatment.
What research is being done?
The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health
(NIH) conduct research related to WD in laboratories at the NIH, and support additional research through grants to major medical
institutions across the country. The recent identification of the copper transporting gene ATP7B, which in its mutated form
causes WD, should lead to the design of better therapies for this disorder.
NIH Patient Recruitment for Wilson's Disease Clinical Trials
| American Liver Foundation 75 Maiden Lane Suite 603 New York, NY 10038-4810 info@liverfoundation.org http://www.liverfoundation.org Tel: 800-GO LIVER (465-4837) 212-668-1000 Fax: 212-483-8179 |
March of Dimes Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 askus@marchofdimes.com http://www.marchofdimes.com Tel: 914-428-7100 888-MODIMES (663-4637) Fax: 914-428-8203 |
| National Institute of Diabetes and Digestive
and Kidney Diseases (NIDDK) National Institutes of Health, DHHS 31 Center Drive, Rm. 9A06 MSC 2560 Bethesda, MD 20892-2560 http://www.niddk.nih.gov Tel: 301-496-3583 TTY: 866-569-1162 |
Wilson's Disease Association International 1802 Brookside Drive Wooster, OH 44691 info@wilsonsdisease.org http://www.wilsonsdisease.org Tel: 330-264-1450 888-264-1450 Fax: 330-264-0974 |
| WE MOVE (Worldwide Education & Awareness for Movement Disorders) 204 West 84th Street New York, NY 10024 wemove@wemove.org http://www.wemove.org Tel: 212-875-8312 Fax: 212-875-8389 |
Prepared by:
Office of Communications and Public Liaison
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892
NINDS health-related material is provided for information purposes only and does not necessarily represent endorsement by or an official position of the National Institute of Neurological Disorders and Stroke or any other Federal agency. Advice on the treatment or care of an individual patient should be obtained through consultation with a physician who has examined that patient or is familiar with that patient's medical history.
All NINDS-prepared information is in the public domain and may be freely copied. Credit to the NINDS or the NIH is appreciated.
Last updated February 14, 2007
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