Charcot-Marie-Tooth Disease

Question 1

What is Charcot-Marie-Tooth disease?

Answer 1

Charcot-Marie-Tooth disease is an inherited disease that affects the peripheral motor and sensory nerves. There are various types of Charcot-Marie-Tooth with different genetic mutations and different pathophysiology. They cause dysfunction in the myelin or the axons. The majority of mutations are inherited in an autosomal dominant pattern

Question 2

When do the symptoms of Charcot-Marie-Tooth disease start?

Answer 2

Symptoms usually start to appear before the age of 10 years but the onset of symptoms can be delayed until 40 or later.

Question 3

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

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

What are the causes of peripheral neuropathy?

Answer 4

• A
  
  • Alcohol
• B
  
  • B12 deficiency
• C
  
  • Cancer
  • Chronic Kidney Disease
• D
  
  • Diabetes
  • Drugs (e.g. isoniazid, amiodarone and cisplatin)
• E
  
  • Every vasculitis

Question 5

How common is Charcot-Marie-Tooth disease?

Answer 5

1 in 2,500 people.

Question 6

Briefly describe the MDT management of Charcot-Marie-Tooth disease

Answer 6

There is no treatment to alter the underlying disease or prevent it progressing. Management is purely supportive with input from various members of the multidisciplinary team:

• Neurologists and geneticists to make the diagnosis
• Physiotherapists to maintain muscle strength and joint range of motion
• Occupational therapists to assist with activities of living
• Podiatrists to help with foot symptoms and suggest insoles and other orthoses to improve symptoms
• Orthopaedic surgeons to correct disabling joint deformities