2. Introduction
Wilson’s Disease is a rare autosomal recessive genetic
disease that leads to excessive accumulation of copper
in the body, especially in the Liver, Brian, and the
Corneas of the eyes.
It is also known as Hepatolenticular Degeneration
Syndrome.
3. It was discovered by Neurologist, Dr Samuel
Alexander Kinnier Wilson in 1912, where he found that
the pathologic findings in Lenticular degeneration of
the brain, were associated with cirrhosis of the liver.
4. Epidemiology
It has a prevalence of 1 in 30,000 to 40,000 people
worldwide.
It is generally diagnosed between the ages of 5 and
35 years but can affect younger and older people.
It affects males and females equally.
9. Free Cu accumulates in the liver. It can
escape from damaged hepatocytes and go
into circulation and other organs
It is cytotoxic and can cause hemolytic
anemia and chronic active hepatitis
Fulminant Hepatitis can lead to release of
large amounts of Cu from the necrotic
liver, triggering a hemolytic crisis.
18. Treatment
Copper Chelation Therapy using Penicillamine,
Trientine, and Ammonium tetrathiomolybdate.
Zinc Ingestion – helps prevent reaccumulation of
Copper by blocking its absorption in the intestinal tract.
Avoiding Copper rich foods
20. PT Management
Patient Education
Positioning and stretching to prevent progression of
contracture (occurring due to dystonia)
Serial casting for acute contracture
ROM exercises
Exercises for improving Balance and Co-ordination