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Wilson s Disease

  1. Symptoms
  2. Reasons
  3. Diagnosis
  4. Treatment

Wilson’s Disease

hereditary disease, develops due to lack of enzyme (ATPase, P-type), which participates in the process of removing copper from the body. Copper in this case is deposited in the internal organs (often the brain, the iris of the eye and liver).


  • Involuntary movement of the neck, limb hyperkinesis
  • frequent falls, unsteadiness, unsteadiness of gait
  • trembling of the limbs, neck, and in some cases the entire body

  • slurred speech dysarthria
  • difficulty eating, dysphagia
  • the tension of the muscles (increase their tone in the extremities)
  • spasm (sudden involuntary movements, in some cases with loss of consciousness)
  • enlargement of the liver
  • a violation of the intelligence (memory impairment)
  • pain and heaviness in the right hypochondrium
  • icteric staining of the sclera of eyes, skin
  • yellow-green rim around the iris of the eye.

Always Wilson disease, the symptoms of which are described above, requires medical intervention.


  • Violation of the structure of the gene, which is located on the 13th chromosome
  • reduction due to violations of the structure of the gene formation of the enzyme (ATPase, P-type) with it, copper is transported from the blood into the bile
  • balances copper in the body, accumulate in tissues and organs (brain, liver, iris)
  • large quantities of copper has a toxic effect (on the fabric of the liver, basal ganglia and cerebellum).


Forms of Wilson’s disease depending on the manifestation of certain symptoms

  • abdominal signs of liver damage (pain and heaviness in the right hypochondrium, icteric staining of the mucous membranes and skin)
  • aritmogenne violent movement in the extremities (hands and feet), often accompanied by pain. Appear violation of intellect (memory loss)
  • shaking-rigid increased muscle tone and tremor of the limbs (tremor)
  • shaking trembling of the hands and feet, muscle tone is often normal
  • extrapyramidal-cortical characteristic tremor, increased muscle tone, appearance of paralysis of the extremities, mental disorders and intelligence (deterioration in memory, thinking).


  • Analysis of complaints and anamnesis of disease

    • how long ago did the appearance of neurological complaints (tremor, deterioration of intellectual activity, dysarthria)
    • how long had the feeling of heaviness and pain in the right upper quadrant
    • are there cases of such diseases.
  • a neurological examination to identify the main signs of neurological pathology (unsteadiness of gait, frequent falls, tremor, dysarthria)
  • special scales and questionnaires to identify mental disorders and disorders of intelligence
  • inspection of the eye
  • a blood test

    • the increase in the number of copper
    • the reduction of ceruloplasmin in the blood (a protein that participates in the transport of copper in the body. The disadvantage of this protein is typical for most patients).
  • urinalysis
  • computed tomography or magnetic resonance imaging of the brain provide an opportunity to study the brain in layers.


The Wilson’s disease, whose symptoms are detected, it requires immediate treatment.

It is

  • diet limit consumption of foods that contain large amounts of copper (liver, chocolate, mushrooms)
  • medications

    • of penicillamine, which binds copper to facilitate its excretion in the bile
    • zinc sulfate, which reduces the absorption of copper in the intestine.
  • medication and diet in Wilson disease are appointed for life, which helps to prevent complications
  • surgical intervention liver transplantation (fully heals from the disease).

The Wilson’s disease, treatment of which involves surgery, can be cured immediately after a successful liver transplant.