Charcot-Marie-Tooth Disease (CMTD)

Question 1

What is CMTD?

Answer 1

Inherited disease that affects the peripheral motor and sensory nerves. There are various types of CMTD with different genetic mutations and different pathophysiology

Question 2

1) What does CMTD cause dysfunction to?
2) The majority of mutations are inherited in what inheritance pattern?
3) When do symptoms usually start?

Answer 2

1) Myelin or axons
2) Autosomal dominant
3) Before age of 10

Question 3

Name 3 features of CMTD

Answer 3

• 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

How is CMTD managed?

Answer 4

Supportive management with input from MDT