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Aurora magazine

Charcot-Marie-Tooth disease: what it is and how it occurs

Charcot-Marie-Tooth disease (CMT) is a genetic disease that affects about one person every 2,500. It affects the nerves and causes weakness and muscular atrophy, which start from the feet and spread upwards. In many cases it also causes skeletal deformations that result in more or less pronounced disability. The first symptoms usually appear before the age of 20, to date many forms have been recorded.

The researchers found about 90 genes linked to the disease, but some say they could be even more. In order for the most common forms of Charcot-Marie-Tooth disease to occur, it is enough for the child to inherit even just one altered copy of the gene. However, there are forms with an autosomal recessive and other modalities related to the transmission of the X chromosome. In the latter case, women suffer from a milder form than men.

For the diagnosis of Charcot-Marie-Tooth disease one always starts from clinical observation, supported by an electromyographic examination. Where necessary, nerve biopsy is also used. Genetic tests make the diagnosis more reliable and help prevent transmission to children.

The great genetic variability of the disease makes the treatment difficult. Several studies are underway to evaluate possible treatments. One of the most promising concerns the administration of ascorbic acid in patients with mutations in the PMP22 gene. However, years of further study will be required. For the moment, therefore, it mainly acts through physiotherapy and orthopedic surgery.