Wilson's disease - Symptom
Signs and tests:
A slit-lamp eye examination may show:
- Limited eye movement
- Rusty or brown-colored ring around the iris (Kayser-Fleischer rings)
A physical examination may show signs of:
- Damage to the central nervous system, including loss of coordination, loss of muscle control, muscle tremors, loss of thinking and IQ, loss of memory, and confusion (delirium or dementia)
- Liver or spleen disorders (including cirrhosis, splenomegaly, and liver necrosis)
Lab tests may include:
If there are liver problems, lab tests may find:
Other tests may include:
The gene responsible for Wilson's disease has been found. It is called ATP7B. DNA testing is available for this gene. However, testing is complicated because different ethnic groups may have different changes (mutations) in this gene.
- Reviewed last on: 9/10/2010
- Chad Haldeman-Englert, MD, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.
Kaler SG. Wilson's disease. In: Goldman L, Ausiello D, eds. Cecil Medicine. 23rd ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 230.
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