What are neuropathies

Charcot syndrome (known in the literature as CMT or HMSN) is classified as a disease of the neuropathy group. Neuropathies are understood to be disease entities that are associated with nerves, i.e. the structures of the nervous system responsible for the transmission of nerve signals. Among the most common causes of neuropathy are trauma, ischaemia or compression, but conditions such as diabetes, kidney disease or, last but not least, genetic diseases also have an impact on the appearance of neuropathy. Pathological changes in the nerves cause disturbances in the transmission of signals, which can lead to pain, numbness, tingling, a feeling of 'burning' in the limbs or even weakness. Charcot disease was described in the early 20th century by three doctors - Jean Martin Charcot, Pierre Marie and Howard Tooth.

Etiology of the disease

Several variations of the disease can be distinguished in the classification available in the literature, but all variations are caused by mutations in different genes. Why genes mutate and contribute to the disease is not known. Mutations often occur spontaneously, de novo, and it is difficult to pinpoint a single cause that influenced their appearance.

Several types of the disease are listed below, with their frequency described.

cMT1A type occurs due to mutations in the PPM22 gene and is the most common type of the disease, accounting for up to 80% of diagnosed cases. The incidence is approximately 10/100,000,
cMT1C type is caused by a mutation in the LITAF/ISPMLE gene. It causes demyelination of nerve fibres. This type of disease manifests itself in early childhood,
cMT2D type is caused by a mutation in the GRAS gene. This type of disease is characterised by extremely severe neurological symptoms affecting the upper limbs.

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Symptoms of the disease

The disease usually manifests itself in early childhood or adolescence. The disease does not progress rapidly - its course is usually gradual. Symptoms that characterise Charcot-Marie-Tooth syndrome are the appearance of foot deformities, gradual atrophy of the fibula muscles, and the occurrence of a so-called waddling gait.

Ways of diagnosing the disease

Among the methods used to diagnose the disease entity, several tests can be distinguished:

genetic testing - allows confirmation of the mutation responsible for causing the disease entity and determination of the type of disease,
neurographic examination, which makes it possible to determine conduction in the motor nerves. It allows the degree of conduction to be examined.

Treatment options

Unfortunately, there are currently no effective drug or gene therapies available to effectively manage the condition. Treatment is based primarily on the use of exercises under the guidance of a physiotherapist to slow down degenerative processes.

In the case of type 1A of the disease, where patients have the so-called Charcot foot, the use of orthoses to keep the limbs in proper alignment is effective.

Experimental treatments using so-called selective progesterone receptor antagonists and ascorbic acid are currently being tested. For patients with Charcot-Marie-Tooth disease, more and more clinical trials are emerging that allow the use of new drugs that are in the clinical trial phase. Their use can help reduce pain and inhibit the progression of the disease.

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