Medical Definition of Westphal's disease
An inherited (autosomal recessive) disorder where there is excessive quantities of copper in the tissues, particularly the liver and central nervous system. Wilson's disease causes the body to absorb and retain copper. The copper deposits in the liver, brain, kidneys and eyes. Complications include dementia and liver failure.
Symptoms include jaundice, vomiting, tremors, weakness and slow stiff movements. Blood tests show serum ceruloplasmin is low. Medications are given to remove the excess copper from the body. Even with life-long treatment, disabling (and life-threatening) side effects are common.
Inheritance: autosomal recessive.
(27 Sep 1997)
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