Charcot Marie Tooth disease

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This degenerative condition has a progression that cannot be stopped with any known treatment to date. In this case, specialists focus on working on the symptoms that appear to extend the functioning of the affected limbs.

Because it has a genetic origin, most of the time the signs become evident at the end of childhood or adolescence. However, it is also possible for them to appear in young adults and even in middle age.

Charcot Marie Tooth disease causes difficulty walking, numbness, and muscle spasms, so a timely diagnosis can help you decipher whether or not you suffer from this condition. At COPAC we can give you the answer you have been looking for and offer you the ideal alternatives to solve any condition.

What is Charcot Marie Tooth disease and what are its types?

Charcot Marie Tooth disease (CMT) is a type of hereditary peripheral neuropathy that can manifest itself in different ways depending on the associated genetic mutation.

It is mainly characterized by progressively weakening and atrophying the muscles of the legs and feet; although in an advanced state it can affect the upper extremities (arms and hands).

The nerve damage caused by Charcot Marie Tooth disease affects motor and sensory function; this means that there is both damage to the muscles and an alteration in the sensory messages transmitted from the limbs to the brain; therefore, individuals are more likely to suffer trips and falls.

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Charcot Marie Tooth disease has many variants; however, its classification is usually based on the part of the nerve that is damaged. These can be:

Damage to the myelin sheath (Demyelination): Myelin is a type of insulation that coats nerve structures (axon). When demyelination occurs, this lining is damaged, which prevents nerve impulses from traveling normally.

Damage to the axon: Messages are transmitted through the axons to the brain, when they receive a lot of damage they die and an interruption in this important process of nerve connection occurs.

Among its most frequent types are: CMT1, CMT2, CMT3, CMTX.

Symptoms of Charcot Marie Tooth Disease

Weakness in the lower body.

Decreased muscle mass in the legs (small, weak muscles).

Foot drop.

Deformation of the toes (hammertoes).

Increased plantar arch (feet).

Numbness in the legs and feet that can rise to the hands.

Loss of reflexes.

Atrophy in the muscles of the hands.

Limitation in running and/or walking.

It should be noted that the progression of the disease is not the same for all people; This can be slower or faster even if the affected are several members of the same family.

Diagnosis of Charcot Marie Tooth Disease

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People with clinical manifestations of the disease should undergo a medical evaluation to check for weakened areas and the presence of the most common deformities (hammertoes and raised plantar arch).

The specialist may use other tests such as a nerve conduction study, genetic testing or electromyography to confirm the diagnosis. In addition to reaffirming the diagnosis, it is essential to specifically identify the type of disease in order to establish the appropriate treatment methods.

Treatments for Charcot Marie Tooth Disease

As we mentioned at the beginning, no current treatment is able to stop the progress of this disease. However, there are methods that can help control many of the symptoms…

Drugs

People may feel pain from constant muscle spasms and also from nerve injuries; This symptom can be easily controlled with a pain reliever prescribed by your doctor.

Assistive devices

The use of a brace can be an alternative for those who have a foot drop (foot drop) or instability when walking or climbing stairs.

Therapies

Options such as physical therapy and occupational therapy are widely recommended to strengthen and stretch muscles, prevent mass loss, and delay disability.

Surgeries

Although surgeries do not have the scope to act on muscle weakness or loss of sensation, they can be used as a corrective procedure for foot deformities.

Causes of Charcot Marie Tooth Disease

Charcot Marie Tooth disease has a genetic origin, where the individual inherits autosomal dominant or recessive traits from one or both parents.

Where to treat Charcot Marie Tooth disease in Panama?

With a prevalence of 1 in 2500 people, Charcot Marie Tooth disease is not commonly observed; so finding specialists in Panamanian soil is usually quite a difficult task.

For your peace of mind, at COPAC we have a renowned medical team that can help you treat the symptoms and improve your quality of life.

Contact us for a specialized consultation and a quote tailored to your needs.

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Frequently asked questions

Charcot Marie Tooth disease so far has no cure. Research is still open to find a solution to interrupt the genetic transmission of the disease to the next generations.

Despite its many symptoms, the pain caused by Charcot Marie Tooth disease tends to be very insignificant; since in most cases, the nerve disorder causes a loss of sensation in legs and feet that does not allow the patient to capture any type of sensation.

Life expectancy is not diminished by a disease such as Charcot Marie Tooth; however, people have to face the progressive degeneration that it generates over the years.

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