Which conditions are included in the differential diagnoses of Charcot-Marie-Tooth disease (CMT)?

Updated: Jun 23, 2021
  • Author: Divakara Kedlaya, MBBS; Chief Editor: Elizabeth A Moberg-Wolff, MD  more...
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Answer

These include the following:

  • Acquired nongenetic causes of peripheral neuropathies

  • Vitamin B-12 deficiency

  • Diabetes mellitus

  • 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.


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