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Charcot-Marie-Tooth Disease (CMTD)

Overview

Charcot-Marie-Tooth disease (CMTD) is a hereditary neuropathy that affects the peripheral nerves (those outside the brain and spinal cord that control movement and sensation). CMTD is one of the most common inherited neurological conditions, with a prevalence of 1:2500 in the general population. It usually causes muscle weakness, foot deformities, and difficulty in walking.

CMTD has several types, depending on the gene involved and the way nerves are affected:

  • CMT-1: Caused by mutation in peripheral myelin protein 22 gene (PMP22) on chromosome 17; affects the protective covering of nerves (demyelinating type).
  • CMT-2: Caused by mutations in genes such as Mitofusin 2 and connexin 32; mainly affects the nerve fibres themselves (axonal type).
  • CMT 3 (Dejerine–Sottas disease): A rare and severe type that appears in infancy or early childhood.
  • CMT 4 and other rare variants: Less common subtypes, usually more severe.

The disease usually starts in childhood or adolescence and progresses slowly. Common symptoms include:

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

CMTD occurs due to mutations in various genes that control the structure and function of peripheral nerves. These gene changes can affect either the nerve covering (myelin) or the nerve fibres (axons). Family history is the only known factor, as the condition is passed down through generations.

Doctors diagnose CMTD based on:

  • Clinical examination: looking for typical signs such as foot deformities, muscle weakness, and balance issues.
  • 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.
  • Genetic testing: may be recommended to confirm the type of CMT.

There is currently no cure for CMTD, but treatment focuses on improving quality of life and slowing disability progression:

  • Physical therapy with exercise: for maintaining muscle strength
  • Assistive devices: such as braces, custom shoes, or walking aids to improve mobility.
  • Pain management and neurorehabilitation: to address nerve pain and improve daily functioning.

You should consult a doctor if you notice:

  • Progressive weakness in the legs or feet.
  • Frequent tripping or falls due to imbalance.
  • Development of foot deformities such as high arches or hammertoes.

CMTD cannot be prevented because it is genetic. However, genetic counselling can help families understand the risk of passing on the condition.

People with suspected or confirmed CMTD should consult a Neurologist for diagnosis, genetic counselling, and treatment guidance.

Disclaimer:

The information in this Health Library is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always consult a qualified healthcare professional with any questions about a medical condition or before starting any treatment. Use of this site and its content does not establish a doctor–patient relationship. In case of a medical emergency, call your local emergency number or visit the nearest emergency facility immediately.