• enlargement of the abdomen (abdominal distention)
• splenomegaly
• yellow skin (jaundice) or eye color (icterus)
• vomiting blood
• weakness
• tremors of the arms or hands
• difficulty moving extremities, stiffness
• abnormal extremity posture (dystonia)
• slow movements
• difficulty walking
• movement - unpredictable and jerky
• movement - uncontrollable
• movement - slow
• weakness of the head, neck, face, or arms
• speech impairment, poor enunciation
• slow or decreased facial movement/expression
• emotional or behavioral changes
• confusion or delirium
• dementia (loss of multiple brain functions)

An eye examination may show:

• Kayser-Fleischer rings (rusty or brown-colored ring around the iris).
• Eye movement may be restricted.

A physical examination may show signs of:

• Liver or spleen disorders (including cirrhosis and liver necrosis)
• Damage to the central nervous system including loss of coordination, loss of muscle control, muscle tremors, loss of cognitive and intellectual functions, loss of memory, confusion (delirium or dementia), and other damage.

Lab findings may include:

• Serum ceruloplasmin - low (although it is normal in 5% of cases)
• Serum copper - low in spite of the copper deposits in tissues
• Urine copper - high
• CBC - may show hemolytic anemia or decreased white blood cell count
• Serum uric acid levels - low

If there are liver problems, lab abnormalities include:

• PT/PTT - elevated
• SGOT/SGPT - elevated
• Albumin - decreased
• Bilirubin - elevated

Other tests findings may include:

• Head MRI or head CT scan may be abnormal, especially in a region of the brain called the basal ganglia, but nonspecific.
• Abdominal x-ray, abdominal MRI, or CT scan of the abdomen may indicate liver disease or other abnormality.
• Liver biopsy or biopsy of the kidneys or other suspect tissue shows deposits of copper, and shows tissue changes that indicate damage to the tissues. This disease may increase the protein and amino acid level in a 24-hr. urine specimen.

The specific gene responsible for the abnormality (mutation) that causes Wilson's disease has been identified. It is called ATP7B. However, a simple genetic test to screen for Wilson's disease has not yet been developed. Testing is complicated because there are many possible mutations from this gene.