Wilson’s disease: Symptoms & Signs, Diagnosis & Tests

Symptoms & Signs

  • Abnormal posture of arms and legs
  • Confusion or delirium
  • Dementia
  • Difficulty moving arms and legs, stiffness
  • Difficulty walking (ataxia)
  • Emotional or behavioral changes
  • Enlargement of the abdomen (abdominal distention)
  • Loss of IQ points (occasionally)
  • Personality changes
  • Phobias, distress (neuroses)
  • Slow movements
  • Slow or decreased movement and expressions of the face
  • Speech impairment
  • Splenomegaly
  • Tremors of the arms or hands
  • Uncontrollable movement
  • Unpredictable and jerky movement
  • Vomiting blood
  • Weakness
  • Yellow skin (jaundice) or yellow color of the white of the eye (icterus)

Diagnosis & 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 intellectual functions, loss of memory, and confusion (delirium or dementia).
  • Liver or spleen disorders (including cirrhosis and liver necrosis)

Lab tests may include:

  • Complete blood count (CBC)
  • Serum ceruloplasmin
  • Serum copper
  • Serum uric acid
  • Urine copper

If there are liver problems, lab tests may find:

  • High AST and ALT
  • High bilirubin
  • High PT and PTT
  • Low albumin

Other tests may include:

  • 24-hour urine copper test
  • Abdominal x-ray
  • Abdominal MRI
  • CT scan of the abdomen
  • Head CT scan
  • Head MRI
  • Liver biopsy

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.

Review Date : 8/7/2008
Reviewed By : Diana Chambers, MS, EdD, Certified Genetics Counselor (ABMG), Charter Member of the ABGC, University of Tennessee, Memphis, TN. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

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