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Charcot-Marie-tooth disease (CMTD)

Overview

CMTD is a hereditary neuropathy that affects the peripheral nerves, and has a prevalence of 1:2500 in general population. The inheritance pattern may be autosomal dominant, autosomal recessive, or X linked.

  • It is caused due to mutations in various genes

  • Family history is the only known factor.

  • Muscle weakness and atrophy of legs, ankle, and feet
  • Foot deformities (high arches, hammertoes)
  • Imbalance and difficulty in walking
  • Numbness in feet and legs

  • CMT-1 : Mutation in peripheral myelin protein 22 gene (PMP22) on chromosome 17p11.2.
  • CMT-2: Mitofusin 2, connexin 32
  • CMT 3: Also known as Dejerine Sotas disease
  • CMT 4
  • Other variants of CMT are rare

Neurologist

Clinical examination and through nerve conduction studies to determine demyelinating or axonal type of neuropathy, depending on the variant of CMTD; CMT 1 and 3 are demyelinating, whereas CMT 2 is axonal neuropathy.

  • Physical therapy with exercise for maintaining muscle strength
  • Assistive devices
  • Pain management and neurorehabilitation
  • No cure

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