Charcot-Marie Tooth Syndrome

Question 1

Definition

Answer 1

• Inherited disease that affects peripheral motor and sensory nerves
• Dysfunction of myelin or the axons
• Majority are AD pattern

Question 2

Presentation

Answer 2

• Features usually present before age of 10
• High foot archs (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 3

Causes of peripheral neuropathy

Answer 3

• Alcohol
• B12 deficiency
• Cancer and CKD
• Diabetes and Drugs (i.e. isonazid, amiodarone, cisplatin)
• Every vasculitis

Question 4

Management

Answer 4

• No treatment of underlying disease
• MDT input