Wilson's disease

Wilson's disease is a rare inherited disorder that is characterized by the accumulation of copper in the body. It is caused by mutations in the ATP7B gene which encodes a protein that plays an important role in the transport of copper from the liver to the rest of the body. It also helps remove excess copper from the body.

Although the accumulation of copper begins at birth, symptoms of the disorder do not appear until later in life, between the ages of 6 and 40. Liver disease is the most common manifestation of Wilson’s disease. Involvement of the nervous system or psychiatric changes result in symptoms like tremor, muscle stiffness, drooling, difficulty with speech, physical coordination, abrupt personality change, inexplicable deterioration at school or other work, neurosis, and psychosis.

For diagnosis, healthcare professionals typically look at a person’s medical history, symptoms, physical exam, characteristic features like Kayser-Fleischer ring(a deep copper-colored ring around the edge of the cornea that represents copper deposits in the eye) and laboratory tests. 

Prognosis for patients with Wilson disease is usually good, unless disease is advanced before treatment begins. Affected people require lifelong treatment, which may include certain medications and dietary modifications. If treatment is begun early enough, symptomatic recovery is usually complete, and a life of normal length and quality can be expected.