Charcot-Marie-Tooth Disease

Question 1

What kind of genetic condition is Charcot Marie Tooth disease?

Answer 1

Autosomal dominant mutation on chromosome 17, PUP22 gene

Question 2

Charcot-Marie-Tooth disease is also known as h_____ m___ and s_____ n______

Answer 2

hereditary motor and sensory neuropathy

Question 3

There are various types of Charcot-Marie-Tooth syndrome causing m____ or a___ dysfunction

Answer 3

myelin and axon

Question 4

When do symptoms of Charcot-Marie-Tooth disease start to show?

Answer 4

Usually before 10 but can be delayed until 40+

Question 5

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

Answer 5

High foot arches
Distal muscle wasting (inverted champagne bottle legs)
Lower leg weakness
Loss of ankle dorsiflexion (foot drop)
Weakness in hands
Reduced tendon reflexes
Reduced muscle tone
Peripheral sensory loss

Question 6

What does peripheral neuropathy refer to?

Answer 6

Reduced sensory and motor function in the peripheral nerves, typically in a glove-stocking distribution.

Question 7

What mnemonic helps remember the causes of peripheral neuropathy?

Answer 7

ABCDE

Alcohol
B12 deficiency
Cancer and CKD
Diabetes and Drugs
Every vasculitis

Question 8

How is Charcot-Marie-Tooth disease diagnosed?

Answer 8

Nerve conduction speed test
nerve biopsy
Genetic testing

Question 9

How is Charcot-Marie-Tooth syndrome managed?

Answer 9

No treatment, just supportive.
Physio
OT
Podiatrist for insoles
Analgesia eg amitriptyline for neuropathic pain
Surgery for severe joint deformities

Question 10

What does Pes Planus and Pes Cavus mean in Charcot-Marie-Tooth disease?

Answer 10

Flat feet and high arched feet