science

Charcot-Marie-Tooth disease (CMT), which causes a rare polyneuropathy

Knowledge means knowledge. And knowledge makes you stronger in the face of a diagnosis. For this reason, the European CMT Federation (ECMTF), of which ACMT-Rete is one of its founding members, launched its sixth awareness campaign on Charcot-Marie-Tooth diseaseThe most common hereditary neuropathies. October is the month dedicated to the disease, which must be recognized early and therefore requires a comprehensive diagnostic process. Messages of the month focus on this topic.

What is Charcot-Marie-Tooth disease?

Charcot-Marie-Tooth disease (CMT) is named after the three doctors who first described it. he is rare neuropathyIt is estimated that around 300,000 people have been affected by the image across Europe. It is a genetic disease that affects the peripheral nerves that connect the spinal cord to muscles and sense organs, and transmit messages from the brain to the extremities and vice versa. These signals allow movement of the legs and arms to be controlled and to perceive the sense of touch or pain; Combining these messages also helps maintain balance.

CMT is slowly developing e many symptoms (more or less pronounced): progressive deformity of the feet and hands (hollow feet, claw toes, calf muscle atrophy, forearms and hands), balance disorders, sensitivity disorders, fatigue, pain, cramps, etc. The quality of life of people with Charcot-Marie-Tooth is significantly impaired. CMT is often referred to as one “invisible handicap”, because difficulties usually do not appear immediately or are underestimated. The number and severity of symptoms varies greatly from patient to patient.

Therefore, understanding CMT is more difficult for relatives and friends, as well as for healthcare professionals involved in the diagnosis. On this front, there is much to be done. CMT patients use on average Decade To get a (correct) diagnosis. Symptoms are often underestimated or misinterpreted, so most patients turn to inadequate/trained healthcare professionals, in a long and costly medical ‘cross-the-cross’, both economically and psychologically: delays in diagnosis are in fact for many patients The source of psychological and physical suffering, because by delaying the intervention with physiotherapy and orthodontic appliances, the deformities worsen, often becoming irreparable; That is why we chose to focus on this important topic.

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Why is it important to know more

The 2022 EU CMT Awareness Campaign includes 9 European countries throughout the month of October: UK, France, Belgium, Netherlands, Italy, Spain, Germany, Austria and Romania. Powerful new images from the campaign will help raise awareness of Charcot-Marie-Tooth disease. There is no cure for CMT, but research is making progress. However, patients can strive to improve their quality of life through a multidisciplinary approach: use of assistive devices (orthotics, orthotics, braces, etc.), physiotherapy and self-rehabilitation, adaptive physical activity, psychological support and occupational therapy.

Phil Schwartz

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