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Charcot-Marie-Tooth Disease

An inherited peripheral nerve disease.

Written by: Saygı Hospital Health Guide Editorial Board
Last updated:

This content has been compiled by the Saygı Hospital Health Guide Editorial Board and is periodically reviewed by a specialist physician.

References (5)

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Nöroloji department. Book Appointment →

What is Charcot-Marie-Tooth Disease?

Charcot-Marie-Tooth (CMT) disease is a group of inherited disorders of peripheral nerves. It is one of the most common inherited neurological diseases. There are different genetic subtypes; inheritance can be autosomal dominant, recessive or X-linked.

Symptoms begin in childhood or young adulthood; weakness in foot and leg muscles, foot deformities (pes cavus, hammer toe), balance disturbance and over time involvement of the hands are seen. Sensory changes usually accompany.

The disease is progressive but generally does not affect life expectancy. Treatment is aimed at preserving quality of life with physical therapy, orthoses, pain management and surgical corrections.

Symptoms

Pes cavus (high arch) and hammer toe
Weakness in the ankle and frequent sprains
Thinning of long leg muscles (stork leg appearance)
Balance disturbance and clumsy gait
Thinning and loss of dexterity in hands
Numbness and tingling
Loss of reflexes

Risk Factors

Family history of CMT
Presence of relatives diagnosed with hereditary neuropathy
Consanguineous marriage (in some recessive forms)
Walking delay in early childhood
History of foot deformity
Frequent ankle sprains
Pathogenic variant detected by genetic testing

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • If there are unexplained foot deformity and balance problems
  • If there is family history of CMT, for genetic counseling
  • If there is progressive muscle weakness and thinning
  • If there is delay in walking development in a child
  • If new-onset pain, falls or loss of skill develops

Treatment Methods

01
Physical therapy and regular exercise programs
02
Foot orthosis (AFO) and appropriate footwear
03
Occupational therapy (for hand functions)
04
Pain management (medications when necessary)
05
Surgical correction (in severe deformities)
06
Genetic counseling and family planning

Which Department to Visit?

You can visit our Nöroloji department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

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Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.