Other Names for this Disease
- Hepatolenticular degeneration
Your QuestionI have been diagnosed with Wilson disease. What are the long-term effects of this disease? Will I need to be on medication for the rest of my life? Does Wilson disease count as a disability because an affected person has it all of their life? What are the chances that my children will have Wilson disease?
We have identified the following information that we hope you find helpful. If you still have questions, please contact us.
Questions on this page
- What is Wilson disease?
- What are the symptoms of Wilson disease?
- What are the long-term effects of Wilson disease?
- Do individuals with Wilson disease need to take medication throughout their lives?
- If I have Wilson disease, what are the chances that my children will have it too?
- How can I find a genetics professional in my area?
- Does Wilson disease count as a disability?
The most characteristic symptom of Wilson disease 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 Wilson disease 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, difficulty swallowing, 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; and slowness of movements. Individuals may also experience clumsiness and loss of fine motor skills. A third of those with Wilson disease will also experience psychiatric symptoms such as an abrupt personality change, bizarre and inappropriate behavior, depression accompanied by suicidal thoughts, neurosis, or psychosis.
More information about the symptoms associated with Wilson disease can be found through the web pages of the National Digestive Diseases Information Clearinghouse and the National Human Genome Research Institute.
Wilson disease is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Offspring of an 
Individuals interested in learning more about the genetics of Wilson disease or their risk of developing or transmitting this condition should consult with a genetics professional.
The following online resources can help you find a genetics professional in your community:
- GeneTests offers a searchable directory of U.S. and international genetics and prenatal diagnosis clinics.
- The National Society of Genetic Counselors provides a database of genetics counseling services, searchable by location, name, institution, type of practice, or specialty.
- The University of Kansas Medical Center provides a list of links to genetic centers and clinics, associations, and university genetics departments.
- The American College of Medical Genetics has a Genetics Clinics Database for individuals who wish to locate a U.S. genetics center.
- The American Society of Human Genetics is a professional organization of researchers and clinical geneticists. The ASHG maintains a database of its members, some of whom live outside of the United States. Visit the ASHG site if you are interested in obtaining a list of the geneticists in your country, though some may be researchers only and may not offer medical care.
Whether a condition is considered to be a disability depends on many factors. For instance, does the condition cause symptoms which alter an individual's ability to carry out normal daily activities or work commitments?
If Wilson disease is detected early and treated appropriately, an individual with Wilson disease can usually enjoy normal health and a normal lifespan. Individuals who do not receive treatment in a timely manner may have long-term health issues which may qualify them for disability. To learn more about how individuals qualify for disability, we recommend that you visit the following web pages.
DisabilityInfo.gov provides quick and easy access to comprehensive information about disability programs, services, laws and benefits. You can search for medical resources by state at the following link. Select your state from the drop down menu (located on the left hand side of the page) then select “Health.”
Additional information about disability benefits can be found through the following Social Security web site.
Information about financial assistance is available through the National Human Genome Research Institute (NHGRI).
- NINDS Wilson's Disease Information Page. National Institute of Neurological Disorders and Stroke (NINDS). 2007; http://www.ninds.nih.gov/disorders/wilsons/wilsons.htm. Accessed 2/19/2010.
- Wilson Disease. National Digestive Diseases Information Clearinghouse (NDDIC). 2009; http://digestive.niddk.nih.gov/ddiseases/pubs/wilson/. Accessed 2/19/2010.
- Learning About Wilson Disease. National Human Genome Research Institute (NHGRI). 2009; http://www.genome.gov/27532725. Accessed 2/19/2010.
- Wilson disease. Genetics Home Reference (GHR). 2007; http://www.ghr.nlm.nih.gov/condition=wilsondisease. Accessed 2/19/2010.
- Cox DW, Roberts E. Wilson Disease. GeneReviews. 2006; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=wilson. Accessed 2/19/2010.