Neurology - Charcot-Marie-Tooth Disease

Question 1

What is Charcot-Marie-Tooth disease?

Answer 1

An inherited disease affecting peripheral motor and sensory neurones

Question 2

What are the types of mutations associated with Charcot-Marie-Tooth disease?

Answer 2

Various genetic mutations causing myelin or axon dysfunction

Question 3

How is Charcot-Marie-Tooth Disease inherited?

Answer 3

Autosomal dominant

Question 4

At what age do symptoms of Charcot-Marie-Tooth disease typically appear?

Answer 4

Before 10, can be delayed until 40 or later

Question 5

What are the classical features of Charcot-Marie-Tooth disease?

Answer 5

High foot arches (pes cavus)
Distal muscle wasting
Lower leg weakness - loss of dorsiflexion, high steppage gait
Weakness in hands
Reduced tendon reflexes
Reduced muscle tone
Peripheral sensory loss

Question 6

What does distal muscle wasting lead to?

Answer 6

Inverted champagne bottle legs

Question 7

What is the characteristic distribution of peripheral neuropathy in CMT?

Answer 7

Stocking-glove distribution

Question 8

What mnemonic can be used to remember causes of peripheral neuropathy?

Answer 8

ABCDE
Alcohol
B12 deficiency
Cancer (myeloma) and CKD
Diabetes and Drugs (isoniazid, amiodarone, cisplatin)
Every vasculitis

Question 9

What is the management approach for Charcot-Marie-Tooth disease?

Answer 9

Supportive management with MDT

Question 10

Which specialists are involved in the diagnosis of Charcot-Marie-Tooth disease?

Answer 10

Neurologists and geneticists for diagnosis
Physiotherapists - muscle strength and joint ROM
Occupational therapists - ADL
Podiatrists
Analgesia - neuropathic pain
Orthopaedic surgeons - joint deformities