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Studies with patientsTable of Contents (click to jump to sections)
What is Wilson's Disease?
Is there any treatment?
What is the prognosis?
What research is being done?
Organizations
What is Wilson's Disease?
Wilson's disease is an inherited disorder in which excessive amounts of copper accumulate in the body. Although the accumulation of copper begins at birth, symptoms of the disorder appear later in life, between the ages of 6 and 40. The primary consequence for approximately 40 percent of patients with Wilson's is liver disease. In other patients the first symptoms are either neurological or psychiatric or both, and include tremor, rigidity, drooling, difficulty with speech, abrupt personality change, grossly inappropriate behavior and unexplicable deterioration of school work, neurosis or psychosis.Is there any treatment?
Treatment of Wilson's disease generally consists of anti-copper agents to remove excess copper from the body and to prevent it from reaccumulating. Most cases are treated with the drugs zinc acetate, trientine, or penicillamine. Penicillamine and trientine increase urinary excretion of copper, however, both drugs can cause serious side effects. Zinc acetate — which blocks the absorption of copper, increases copper excretion in the stool, and causes no serious side affects — is often considered the treatment of choice. Tetrathiomolybdate, an experimental drug, also shows promise in treating Wilson's disease. In rare cases in which there is severe liver disease, a liver transplant may be needed.
What is the prognosis?
Without proper treatment, Wilson's disease is generally fatal, usually by the age of 30. If treatment is begun early enough, symptomatic recovery is usually complete, and a life of normal length and quality can be expected.
What research is being done?
NINDS supports research to find ways to treat and prevent inherited disorders such as Wilson's disease. The ultimate goal of this research is to discover new treatments for the many genetic disorders that strike the brain and nervous system, including Wilson's disease.
Select this link to view a list of studies currently seeking patients.
OrganizationsAmerican Liver Foundation
75 Maiden Lane
Suite 603
New York, NY
10038-4810
webmail@liverfoundation.org
http://www.liverfoundation.org
Tel: 800-GO LIVER (465-4837)
212-668-1000
Fax: 212-483-8179
March of Dimes Birth Defects 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
Bldg. 31, Rm. 9A04
Bethesda, MD
20892-2560
http://www.niddk.nih.gov
Tel: 301-496-3583
Wilson's Disease Association, International
1802 Brookside Drive
Wooster, OH
44691
wilsonsdiseaseassoc@yahoo.com
http://www.wilsonsdisease.org
Tel: 330-264-1450
800-399-0266
Fax: 509-757-6418
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.
Provided by:
The National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892
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