Charcot-Marie-Tooth Disease

Charcot-Marie-Tooth disease is a hereditary degenerative neuropathy that causes nerve damage, most commonly affecting the nerves in the arms and legs.

It can be inherited in an autosomal dominant, autosomal recessive, or X-linked manner.

As a result, muscles weaken and eventually atrophy. This rare disease deteriorates the nerves responsible for muscle movement and sensory information transmission, which is why it is also known as "hereditary motor and sensory neuropathy."

Depending on the type of nerve damage it causes, Charcot-Marie-Tooth disease is classified into two types:

• Myelin sheath damage (demyelination): Although the axons, responsible for transmitting messages, function properly, the surrounding tissue is destroyed, preventing information from being transmitted.
• Axon damage: The message fails to be sent due to the deterioration or death of the part of the nerve responsible for transmission.

One of the most well-known consequences of this condition is Charcot foot, which manifests with inflammation, loss of sensation, joint dislocation, or collapse of the foot arch, claw toes, plantar fascia contracture, and Achilles tendon shortening, making walking difficult.

Although there is still no cure for this condition, patients with Charcot-Marie-Tooth disease have a normal life expectancy.

Symptoms

In general, the symptoms of Charcot-Marie-Tooth disease first appear in the hands and feet and later extend to the arms and legs as the disease progresses. The most characteristic symptoms include:

• Muscle weakness.
• Loss of muscle mass.
• High foot arches.
• Pes cavus and hammer toes (bent toes).
• Difficulty flexing the heel.
• Problems running.
• Tendency to lift the knees while walking due to calf muscle atrophy.
• Frequent tripping.
• Reduced or lost sensation in the hands and feet.

Causes

Charcot-Marie-Tooth disease is genetic and hereditary, and different types of inheritance patterns can occur. The most common form is autosomal dominant inheritance, meaning that only one parent needs to carry the gene for their offspring to develop the disease.

In autosomal recessive inheritance, the gene mutation must be present in both copies to cause the disease. In X-linked inheritance, the mutation is located on the X chromosome and follows a dominant autosomal pattern not linked to sex.

Currently, the reasons why the genes related to peripheral nerves mutate remain unknown.

Risk Factors

Having a family history of the disease is the primary risk factor.

Complications

Charcot-Marie-Tooth disease presents different complications depending on the individual. Some of the most significant include:

• Difficulty walking.
• Development of foot abnormalities or deformities.
• Increased risk of injuries due to muscle dysfunction.
• Complete loss of sensation, leading to potential infections from wounds or blisters on the feet.
• In severe cases, damage to the muscles used for swallowing, breathing, or speaking, which can cause serious difficulties.

Prevention

Since it is a genetic disease, it cannot be prevented.

Which Doctor Treats Charcot-Marie-Tooth Disease?

Orthopedic surgeons, traumatologists, and neurologists specialize in diagnosing and treating Charcot-Marie-Tooth disease. In some cases, sports medicine specialists may also be involved, as early symptoms can sometimes be mistaken for sports-related injuries.