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 Huntington's Career.

If you want to follow along with written notes on this topic, you can follow along at

zero tofinals.com slash Huntington's Career or in the neurology section of the zero to finals medicine book.

So let's get straight into it.

Huntington's career is an autosomal dominant genetic condition that causes progressive deterioration

in the nervous system.

Remember that autosomal dominant means that if one patient has the condition, if they have children, there's a 50% chance they'll pass it down to their children.

Patients are usually asymptomatic with Huntington's career until symptoms begin between the ages of 30 and 50.

Huntington's career is something called a trinucleotide repeat disorder that involves a

genetic mutation in the httt gene on chromosome 4 and because it's a trinucleide repeat disorder it

displays a particular thing called anticipation. Genetic anticipation is a feature of trinucleotide repeat disorders

and this is where successive generations have more repeats in the gene and this results in

earlier age of onset and increased severity of the disease. So let's start with a quick tom tip.

Anticipation is a common topic in

exam questions and it's worth remembering the features and connections with Huntington's career for

your exams. So the presentation of Huntington's career is usually insidious, progressive,

worsening of symptoms. It typically begins with cognitive, psychiatric,

or mood problems, and these are followed by the development of a movement disorder.

Patients have Korea, spelled C-H-O-R-E-A, which are involuntary abnormal movements. They may have eye movement disorders, speech

difficulties, which is called dysarthria, swallowing difficulties, which is called dysphagia,

as well as other movement disorders. How do you make a diagnosis? Well, the diagnosis is made in specialist genetic centers

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