WILSON'S DISEASE

1. WILSON’S DISEASE
PRESENTATION BY – PURVA PAI
MPT 4th Sem

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.

5. Pathophysiology

6. Pathophysiology

7. Pathophysiology

8. Pathophysiology

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.

11. Clinical Presentation
Kayser-Fleischer Rings – greenish-brown discoloration
of corneal margins.
Blood – Haemolytic anemia

12. Clinical Presentation
Liver Disease
Hepatomegaly
Fatty Liver
Acute hepatitis
Liver Cirrhosis
Acute Liver Failure

13. Clinical Presentation
Neurological
Movement disorders – tremor, involuntary movements
Gait and Posture disturbances
Drooling, Dysphagia
Dysarthria
Rigid dystonia

14. Clinical Presentation
Dysautonomia
Pseudobulbar Palsy
Migraine headaches
Insomnia
Seizures

15. Clinical Presentation
Neuropsychiatric disease
Depression
Neurotic behaviors
Personality changes
Psychosis

16. Clinical Presentation
In children, declined performance in school,
impulsiveness, labile mood and inappropriate
behavior are observed

17. Diagnostic Tests
Blood test - Serum ceruloplasmin level
(N = 20-25mg/dL, WD = 10mg/dL)
 24-hour urine collection test
(N = ≤ 30 mcg/day, WD = >100mcg/day)
Ophthalmological examination – Slit lamp test
MRI Brain (diffuse atrophy, abnormalities)
Liver Biopsy
Genetic Testing

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

19. Treatment
Liver Transplant done in cases of severe
hepatitis or liver failure.

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

21. PT Management
Fatigue Management
Improving Functional Capacity
Dysphagia Management

22. Other Interventions
 Speech Therapy
Psychological Counselling

23. THANK YOU