Hello and welcome to the Zero to Finals podcast. My name is Tom and in this episode I'm going to be talking to you about Wilson's disease.

If you want to follow along with written notes on this topic, you can follow along at zero definals.com slash Wilson's or in the gastroenterology section of the zero definals medicine book.

Let's get straight into it.

Wilson's disease is the excessive accumulation of copper in the body and the tissues.

It's caused by a mutation in the Wilson's disease protein, which is on chromosome 13,

and the Wilson's disease protein also has the catchy name of

ATP7B copper binding protein, and it's responsible for various functions, including the removal of

excessive copper in the liver. Genetic inheritance of Wilson's disease is autosomal recessive.

But what are the features? Most people with Wilson's disease present with one or more

of these three different systems. Hepatic problems or liver problems which occur in 40% of people,

neurological problems or problems with the brain, which occur in 50% of people,

or psychiatric problems, which occur in 10% of people.

Now, copper deposition in the liver leads to chronic hepatitis, so inflammation of those

liver cells that have excessive copper in them,

and eventually this leads to liver cirrhosis.

Copper deposition in the central nervous system leads to neurological and psychiatric problems.

Now the neurological symptoms can be subtle and range from concentration or coordination difficulties to dysarthria,

which is speech difficulties, and dystonia, which is abnormal muscle tone.

Copper deposits in the basal ganglia in the brain leads to something called Parkinsonism.

And this is where you get three things.

Tremor, bradykinesia, or small movements,

and rigidity. So tremor, bradykinesia and rigidity. These Parkinsonism's symptoms are symmetrical,

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