The amyotrophic lateral sclerosis (ALS), also known as Charcot’s disease, is a rare neurological condition that leads to a progressive decrease in muscle strength. It often starts with extreme fatigue, weight loss, cramps, and fasciculations (muscle twitches) in the upper limbs. It can then affect walking, swallowing, and eventually the respiratory muscles. The disease progresses over several years with a life expectancy of 3 to 5 years on average (this number may vary).
Biologically, several mechanisms are involved, including programmed cell death and the accumulation of certain proteins in motor neurons. Some forms may involve cognitive impairments, but most often, intellectual functions remain intact, and the disease is not painful. The suffering is mainly linked to the loss of autonomy in speaking, writing, eating, or moving. In advanced cases, eye movements may remain the primary means of communication.
In France, around 8,000 people are affected by Charcot’s disease, translating to 1 to 2 new cases per year per 100,000 inhabitants, with a daily number of new diagnoses close to the number of deaths. In 10% of cases, the condition has a known genetic origin, but the majority are sporadic forms without a known hereditary pattern. When the disease appears, usually after the age of 40, the impact on the individual and their family is significant.
Is there any treatment available? A treatment called riluzole has been available for 30 years, which can modestly slow down the disease progression. In France, an innovative medication called Tofersen is indicated for a genetic form related to a mutation of the SOD1 gene, representing a significant advancement.
Are there any hopes for the future? A molecule that modulates the immune system has shown promising results, reducing the risk of decline by over 40% in patients with low levels of a specific biomarker. The results of this clinical trial, published in The Lancet in 2025 with the participation of French researchers, need further confirmation.
Furthermore, an anomaly in mitochondrial DNA has been discovered in some patients, suggesting a possible role in triggering the disease. Research must continue to better understand the mechanisms and causes. Many studied pathways may actually be consequences rather than origins, partially explaining the failures of tested treatments.
Can AI contribute to progress? Artificial intelligence (AI) is a promising tool in this field. Diagnosis primarily relies on a clinical examination by a neurologist, complemented by electromyography (study of nerves and muscles) and more recently, a blood biomarker.
Neurologists at the University of Tehran developed an AI system in 2024 based on electrophysiological parameters, improving diagnostic accuracy. These results were confirmed by an American team, and the challenge now is to incorporate these tools into practice.
AI is also utilized to enhance communication methods for patients. Other approaches aim to analyze abnormal protein profiles, predict disease progression, and treatment response.
How is Marseille positioned in this fight? La Timone serves as a reference center for ALS management, supported by the SLA Paca network, assisting patients in their medical and social journey. An AFM-Téléthon mobile team also helps reduce territorial inequalities by visiting patients in Corsica, where consultations by a multidisciplinary unit are held twice a year.
The survival rate has doubled in 20 years, mainly due to the quality of care, improvements in respiratory and nutritional management, and the coordinated efforts of medical and paramedical teams.
