Charcot Marie Tooth Syndrome

Question 1

What is Charcot Marie Tooth Disease

Answer 1

Inherited disease which affects peripheral motor and sensory nerves by causing dysfunction in the myelin of the axons

Question 2

Inheritance pattern for Charcot Marie Tooth Disease

Answer 2

Autosomal dominant

Question 3

Features of Charcot Marie Tooth Disease

Answer 3

Symptoms appear before 10 yo

Can be delayed until 40 yo

Question 4

Examination findings for Charcot Marie Tooth Disease

Answer 4

Pes cavus- high foot arches
Distal muscle wasting - inverted champagne bottle legs
Weakness in the lower legs - loss of ankle dorsiflexion
Weakness in hands
Hypotonia
Hyporeflexia
Peripheral sensory loss

Question 5

causes of peripheral neuropathy

Answer 5

A - alcohol
B - B12 and folate deficiency
C - cancer, CKD, Charcot Marie Tooth disease
D - diabetes and drugs - isoniazid, amiodarone and cisplatin
E - Every vasculitis

Question 6

Management of Charcot Marie Tooth Disease

Answer 6

No treatment

MDT

• neurologists and geneticists - make diagnosis
• physiotherapists - Anita in muscle strength
• occupation therapists
• podiatrists
• orthopaedic surgeons