Charcot-Marie-Tooth Disease

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

 

Classical Features

There are some classical features of Charcot-Marie-Tooth to look out for when examining patient. Not all of these features will apply to all patients with the condition but they are a helpful set of features to look out for, particularly in your OSCEs:

  • 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

Causes of Peripheral Neuropathy

  • AAlcohol
  • BB12 deficiency
  • CCancer and Chronic Kidney Disease
  • DDiabetes and Drugs (e.g. isoniazid, amiodarone and cisplatin)
  • EEvery vasculitis

 

TOM TIP: This is a common OSCE scenario. You will have to perform a neurological examination on a patient that has a peripheral neuropathy. Charcot-Marie-Tooth is a relatively common (1 in 2,500 people) condition with good signs that has a high chance of appearing in your exams. Look for the other features, suggest the diagnosis, then run through the ABCDE mnemonic to suggest the possible other causes.

 

Management

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

 

Last updated April 2019
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