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 Charcotamary

Tooth disease.

And you can find written notes on this topic at zero tofinals.com slash charcomaumaritooth

or in the neurology section of the second edition of the zero to finals

medicine book. Then you can find flashcards and questions to train your knowledge on this content

and help you remember the information for longer at members.0.0.com. So let's get straight into it.

Charcotamarie tooth disease is an inherited disease that affects the peripheral motor and sensory neurons. It's also known as hereditary motor and sensory neuropathy.

There are various types with different genetic mutations and

pathophysiology, causing myelin or axon dysfunction. The majority of mutations are inherited

in an autosomal dominant pattern. Symptoms usually start to appear before the age of 10, but they can be delayed until

40 years of age or later. Let's talk about the classic features. There are some classical

features of Charcotomari tooth disease, which include high foot arches, or pescavis, distal muscle wasting, which causes an appearance

which is described as inverted champagne bottle legs, meaning narrow right at the bottom and then thicker

higher up. Lower leg weakness, particularly in ankle dorsiflection, trying to lift the foot up towards the head.

This results in foot drop, meaning that the foot flops downwards when lifting the leg.

And therefore patients develop what's called a high stepping gait, which is where they have to lift their foot up high to avoid tripping over.

Other features include weakness in the hands, reduced tendon reflexes, reduced muscle tone,

and peripheral sensory loss, or peripheral neuropathy.

Let's talk in more detail about peripheral neuropathy. Peripheral neuropathy. Let's talk in more detail about peripheral neuropathy.

Peripheral neuropathy refers to reduced sensory and motor function in the peripheral nerves,

typically affecting the feet and the hands in a stocking glove distribution.

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