Charcot-Marie-Tooth Disease Differential Diagnoses

Updated: Feb 06, 2023
  • Author: Divakara Kedlaya, MBBS; Chief Editor: Vinod K Panchbhavi, MD, FACS, FAOA, FABOS, FAAOS  more...
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Diagnostic Considerations

In addition to the conditions listed in the differential diagnosis, other problems to be considered include the following:

  • Acquired nongenetic causes of peripheral neuropathies
  • Vitamin B12 deficiency
  • Vasculitis
  • Amyloid associated with chronic inflammation
  • Occult malignancy
  • Heavy-metal intoxication
  • Chronic inflammatory demyelinating polyneuropathy
  • Motor neuropathy with multiple conduction block
  • Other genetic neuropathies
  • Familial brachial plexus neuropathy (ie, hereditary neuralgic amyotrophy)
  • Autosomal recessive genetic disorders, such as Refsum disease or metachromatic leukodystrophy
  • X-linked recessive genetic disorders, such as adrenomyeloneuropathy or Pelizaeus-Merzbacher disease
  • Amyloid neuropathies
  • Hereditary ataxias with neuropathy (eg, Friedreich ataxia)

Blindness, seizures, dementia, and mental retardation are not part of Charcot-Marie-Tooth syndrome.

Differential Diagnoses