Peripheral Neuropathy & Charcot-Marie-Tooth

Question 1

Outline causes of Peripheral Neuropathy

Answer 1

Alcohol

B12 deficiency

Cancer & CKD

Diabetes & Drugs (amiodarone, cisplatin, isoniazid)

Every vasculitis

Question 2

What is Charcot-Marie-Tooth Disease?

Answer 2

An inherited disease that

• affects peripheral motor and sensory nerves
• autosomal dominant
  
  • mutation causes dysfunction in myelin or axons
• symptoms usually start to appear before 10, however sometimes can be delayed until 40 or over

Question 3

classical features of charcot-marie-tooth?

Answer 3

• high foot arch (pes cavus)
• distal muscle wasting
• lower leg weakness, particularly loss of ankle dorsiflexion
• hand weakness
• reduced muscle tone
• reduced tendon reflexes
• loss of peripheral sensation

Question 4

Ix?

Answer 4

• EMG
• Nerve conduction studies
• nerve biopsy

Question 5

Mx?

Answer 5

purely supportive care guided by MDT