CHARCOT-MARIE-TOOTH-DISEASE

Overview and Facts

Charcot-Marie-Tooth disease is a category of hereditary diseases that causes nerve damage, almost damaging all of the peripheral nerves in the arms and legs. It is also called inherited motor and sensory neuropathy.

This disease weakens and shrinks muscle tissues, patients also suffer from loss of muscle sensation, contractions, and walking problems. Foot deformities are also common, such as hammertoes and high arches.

Types and Symptoms

TYPES

  • CMT1. One of the most common types of CMT usually referred to as demyelinating CMT. This is a genetic mutation that weakens the myelin sheath protecting the nerves.
  • CMT2. It is caused by gene mutations that play a major role in the development and operation of the peripheral nerve axons. Axonal CMT is generally referred to as CMT2.
  • CMT3. It is sometimes referred to as the condition of Dejerine-Sottas. It is a serious, early-onset form of CMT. It is rare and interferes with the myelin sheath, leading to extreme muscle atrophy, fatigue, and sensory issues starting in early childhood. 
  • CMT4. It is also an uncommon kind of CMT that affects the sheath of myelin. It occurs in early infancy and, over time, patients lose the ability to walk. It is normally inherited in a recessive autosomal fashion. 
  • CMT-X. Mutations in the GJB1 gene, found on the X-chromosome, which is a code for a protein called connexin-32, are caused by CMT-X. 
  • DI-CMT. There is a final CMT disease category called dominant intermediate CMT (DI-CMT), named after the velocity of nerve conduction (NCV), which is known to be intermediate.

SYMPTOMS

  • The weakness of the legs, feet, and ankles 
  • Shrinking of muscle bulk in your legs and feet 
  • High foot arches 
  • Toes curled (hammertoes) 
  • Decreased running ability 
  • Difficulty lifting your foot over your ankle (foot drop) 
  • Awkward or higher steps than normal (gait) 
  • Tripping or falling excessively 

Diagnosis & Medications

DIAGNOSIS

Your doctor may conduct the following tests:

  • Physical examination
  • Nerve biopsy
  • Electromyography (EMG)
  • Genetic testing 
  • Nerve conduction studies

TREATMENT

The disease may generally progress slowly, and it doesn’t affect the patient’s life span but there’s no cure for Charcot-Marie-Tooth disease.

A variety of new drugs that could one day cure Charcot-Marie-Tooth disease are being studied by researchers. Potential treatments include antibiotics, gene therapy, and in vitro techniques help prevent future generations from spreading the disease.

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