The Amyotrophic Lateral Sclerosis (ALS), or Charcot’s Disease, is characterized by a rare neurological condition that results in a gradual weakening of muscle strength. It often begins with extreme fatigue, weight loss, cramps, and fasciculations (small muscle contractions), primarily in the upper limbs. Walking, swallowing, and respiratory muscles can also be affected. The disease progresses over several years with a life expectancy of 3 to 5 years (this number may vary).
Biologically, several mechanisms play a combined role, including programmed cell death and the accumulation of specific proteins in motor neurons. Some forms come with cognitive impairments, but most often, intellectual functions remain intact and the disease is not painful. The suffering is mainly related to the loss of autonomy in speech, writing, eating, or moving. In advanced stages, eye movements may become the primary means of communication.
In France, around 8,000 people suffer from Charcot’s disease, with 1 to 2 new cases per year for every 100,000 inhabitants, and each day sees a number of new diagnoses close to the number of deaths. In 10% of cases, the pathology has an identified genetic origin, but most situations are sporadic forms without a known hereditary characteristic. When the disease appears, usually after the age of 40, the impact on the individual and their family is significant.
Is there any hope? A molecule modulating the immune system has shown promising results: the risk of death has been reduced by more than 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 to be confirmed.
Furthermore, an abnormality in mitochondrial DNA has been found in some patients, suggesting a possible role in triggering the disease. Research must continue to better understand the mechanisms and causes. Many studied pathways could actually be consequences rather than origins, partly explaining the failures of tested treatments.
Can AI bring progress? Artificial intelligence (AI) is a promising tool. Diagnosis mainly relies on a clinical examination by a neurologist, complemented by electromyography (study of nerves and muscles) and, more recently, a blood biomarker.
In 2024, neurologists from the University of Tehran trained an AI system based on electrophysiological parameters, improving diagnostic accuracy. These results were confirmed by an American team. The challenge now is to integrate these tools into practice.
AI is also used to enhance patient communication methods. Other approaches aim to analyze abnormal protein profiles, predict disease progression, and response to treatment.
In the fight against ALS, how does Marseille stand? La Timone is a reference center for ALS management, supported by the SLA Paca network providing medical and social support to patients. An AFM-Téléthon mobile team also contributes to reducing territorial inequalities by visiting patients’ homes in Corsica, where multidisciplinary consultations are held twice a year.
With survival rates doubling in 20 years, it is mainly due to the quality of care, improvement in respiratory and nutritional support, and the coordinated work of medical and paramedical teams.
