Neurology - Charcot Marie Tooth disease

Question 1

What is Charcot-Marie-Tooth disease?

Answer 1

An inherited disease that affects the peripheral motor and sensory nerves

Various different mutations - mostly autosomal dominant

Dysfunction in the myelin or axons

Question 2

When does Charcot-Marie-Tooth disease typically present?

Answer 2

Symptoms usually start to appear before the age of 10 years but the onset of symptoms can be delayed until 40 or later.

Question 3

What are the classical features?

Answer 3

Some of the following:

• High foot arches (pes cavus)
• Distal muscle wasting causing “inverted champagne bottle legs”
• Weakness in the lower legs, particularly loss of ankle dorsiflexion
• Weakness in the hands
• Reduced tendon reflexes
• Reduced muscle tone
• Peripheral sensory loss

Question 4

What are some causes of peripheral neuropathy?

Answer 4

ABCDE mnemonic

A - Alcohol
B - B12 deficiency 
C - Cancer/CKD/Charcot-Marie-Tooth
D - diabetes and drugs
E - every vasculitis

Question 5

What medications are associated with peripheral neuropathy?

Answer 5

Isoniazid
Amiodarone
Cisplatin

Question 6

Management

Answer 6

No treatment to alter the underlying disease or prevent it progressing

Management is largely supportive with MDT input:

• Neurologists and geneticists to make diagnosis
• Physio - to maintain muscle strength and range of motion
• OT - assist with activities of living
• Podiatrists - foot symptoms and insoles