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The Charcot Disease: In the Steps of Science


There are 2 forms of Charcot disease, also called amyotrophic lateral sclerosis (ALS). First, the vertebral form: motor spinal cord neurons are affected. The patient then suffers from movement disorders of the legs and arms. Then the bulbar form: the motor neurons of the brain are affected. The main symptoms are swallowing and speech disorders. In both forms, according to the website, "constipation episodes, weight loss, pain, swelling and vasomotor disorders, respiratory disorders" may occur.

How to explain the mechanism of ALS? Degeneration of motor neurons may be associated with mitochondrial abnormalities, these reservoirs produce the necessary energy. The role of serotonin neurons in the development of stiffness (spasticity) is considered by science.

No treatment today can cure ALS. The only treatment options alleviate the symptoms. However, science focuses on the subject So, at the heart of the DHUNE program, there are three national and international studies underway: the first are looking at the efficacy of a drug that acts on neuroinflammation (interleukin), the second one by another neuroprotective drug, chelating agent iron (FAIR-ALS) that fights cellular stress. Finally, a neuro-inflammatory drug, ROCK-ALS, is also contemplated.

Predicted origins are mainly genetic. But the identification of the genes remains a minority.
"Family forms, defined by the identification of at least 2 cases in pedigree, account for only 5 to 10% of ALS cases. These forms are generally associated with the intervention of genetic factors", according to the website.

The environmental footprint is also there. However, no causal link has been established. Thus, "there are three high-incidence ALSs all located in the West Pacific islands and suspected of the role of a toxin in diet." Strong physical activity and the appearance of trauma are also potential risk factors.

Amyotrophic lateral sclerosis remains difficult to diagnose. Indeed, there are no specific blood markers for the disease. And in the early days, symptoms may go unnoticed. The neurologist performs clinical examination, seeking stiffness. An electrocardiogram is then used to record muscle activity and to detect any disorders.

The MRI comes to explore the brain and the spinal cord. In this regard, DHune researchers today test the benefits of a "MRI every three months to be able to detect the first signs of degeneration of the disease." Under study during this examination? "Changing the link between the various parts of the brain, because we believe that connectivity suffers before brain damage occurs," the scientists say.

In numbers. Charcot's disease affects today about 7,000 French people. The annual incidence of new cases is 2.5 per 100,000, making it "the least rare of rare diseases," according to the research association of the Charcot Disease Research Association (ARSLA). This pathology affects both sexes, with little supremacy in the male population (ratio of 1.5 males to 1 female). The mean age of diagnosis is 55 years. Life expectancy is an average of 3 to 5 years depending on the form.

Note: the mental functions of patients with Charcot's disease are not disturbed.

* The occurrence of two ALS cases in the same family may also be accidental due to the significant incidence of this disease

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Source: Health Destination

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