Home Health What is Charcot-Marie-Tooth disease (CMT) and how to diagnose it

What is Charcot-Marie-Tooth disease (CMT) and how to diagnose it

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The Charcot-Marie-Tooth disease or CMT it is a rare pathology, but we must not think that the picture is so little widespread. It is a still little known neuropathy, whose name derives from the three doctors who first described it.

What is Charcot-Marie-Tooth Disease (CMT)

CMT is one genetic disease which affects the peripheral nerves that have the task of carrying the nerve impulse from the spinal cord to the muscles and sense organs. In practice, it affects the transmission of the message from the nervous system to the limbs.

Motor skills are controlled through nerve impulses and above all information is collected from the periphery of our body, as happens with the sense of touch or the perception of pain. The combination of these messages also helps to maintain balance.

Charcot-Marie-Tooth disease (CMT), how to recognize it

This disease is very complex and is thought to affect about 1250-2500 people. The picture usually develops slowly and can have various repercussions.

For example it can lead to progressive alterations of hands and gods feet with difficulty in lifting the toe, in the development of the so-called claw nails, in the loss of tone and muscle mass of the calves, forearms and hands. It can lead to problems with balance, sensitivity, it can lead to pain or cramps and lead to a kind of fatigue.

All these disorders have an impact on the quality of life of those suffering from this disease. It should also be kept in mind that difficulties are usually not easily visible and therefore are underestimated, also because the type and severity of symptoms can vary from one patient to another. It is therefore important to know this like other rare diseases.

Charcot-Marie-Tooth disease (CMT), how to treat it

We recall that there is a European federation for this pathology which is called ECMTF and has as its objective a greater knowledge of the disease and to promote collaborative research. In Italy there is the ACMT Rete which is part of this European federation.

To follow the daily Health Pill “Charcot-Marie-Tooth Disease”, click and listen here

“Daily Health Pills” is the podcast series by DiLei TakeCare, curated by Federico Mereta. In each episode we talk about prevention, care and good habits.


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