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 Charcotomari Tooth.

As always, if you want to follow along with written notes on this topic, you can follow along at zero definals.com slash Charcotomari tooth or in the neurology section of the Zero Definals Medicine

Book. But let's get straight into it.

Charcotoramari tooth disease is an inherited disease that affects the peripheral motor

and sensory nerves. And there are various types of Charcotoramary tooth with different

genetic mutations and

different pathophysiology. So it's not a single genetic disorder it has various different causes.

These genetic mutations cause dysfunction in the myelin or the axons. The majority of the mutations

are inherited in an autosomal dominant pattern, and symptoms usually start

before the age of 10 years, but the onset of symptoms can be delayed until 40 or later.

So what are the classic features of Sharcomarie tooth?

Well, there's some classic features that you should look out for when you're

examining a patient. Not all of the features will apply to all patients with the condition, but there are a

helpful set of features to look out for, particularly in your OSCEs. First is high foot arches, which is

called Pezcavas, and this is a classic feature of Sharcomari Tooth.

They also have wasting of the muscles in the distal limbs, particularly the distal legs.

And this causes something that's referred to as inverted champagne bottle legs,

where the bottom of the legs become very slim, and the upper legs are more bulky with the muscle.

They'll have weakness in the lower legs, particularly a loss of the ankle dorsiflection.

So flexing the foot downwards. It can also have weakness in the hands, reduce tendon reflexes,

reduced muscle tone and peripheral sensory loss.

And peripheral sensory loss may be the presenting complaint in your OSCI exam,

...