Between 5,000 and 7,000 French people suffer from amyotrophic lateral sclerosis (ALS). Eight years ago, on April 17, 2015, Guilhem “Pone” Gallart, ex-rapper of the Marseille rap group Fonky Family, learned that he too suffered from Charcot’s disease. Paralyzed, he has just taken out a book entirely written with his eyes thanks to an eye navigation system which makes it possible to capture the movement of his eyes.
Amyotrophic lateral sclerosis – also known as Charcot’s disease – is a serious and disabling degenerative disease. It is manifested by a progressive paralysis of the motor muscles, it also affects speech and swallowing. The evolution is rapid and fatal since it generally leads to death within five years of diagnosis. Generally, the disease appears between the ages of 50 and 70, younger when it is of family origin.
“ALS is caused by the gradual death of motor neurons, the nerve cells that direct and control voluntary muscles. Both types of motor effector motor neurons are affected: those called central, located in the brain, and those called peripheral, located in the brainstem and spinal cord. The latter provide the relay between the central motor neurons and the muscles, ”explains Inserm.
Regarding the origin of the disease, no environmental triggering factor has yet been clearly identified. What about genetics? A familial origin was found in 10% of patients. Generally, the diagnosis is made by elimination once the medical team has ruled out certain pathologies.
To date, there is no cure for Charcot’s disease. Currently, riluzole is the only drug approved for its action on the evolution of this pathology. Multidisciplinary care can relieve some of the consequences of ALS, as summarized by Inserm: “The care of the disease targets the symptoms: technical assistance, physiotherapy and antispastic drugs to counter motor disorders, muscle relaxants and analgesics against pain, management of undernutrition, speech therapy for speech and swallowing disorders, psychological support. »
In 2006, a study identified the first three potential biomarkers of amyotrophic lateral sclerosis (ALS). A discovery that paved the way for earlier treatment thanks to faster diagnosis. Researchers at Mount Sinai School of Medicine in New York (USA) have identified three proteins that may be the first potential biomarkers of ALS, offering “the opportunity, for the first time, to develop a test to confirm definitely the diagnosis. A model combining these three proteins could improve and accelerate the diagnosis of the disease.