Every day in France, 4 people die from Charcot’s disease. June 21 is the international day dedicated to this incurable neurodegenerative disease. At what age does it occur? What are the first symptoms? What are the causes ? What is the life expectancy? What treatment? Answers and diagnosis.
[Mise à jour le 21 juin 2022 à 10h38] Every day in France, 4 people die from Charcot’s disease and 5 people see their lives shattered when the diagnosis is announced, recalls the ARSLA (Association for Research on ALS – Charcot’s Disease) on the occasion of the International day dedicated to this incurable disease which takes place on June 21. The amyotrophic lateral sclerosis (ALS), or Charcot’s disease (named after the doctor who described it in the 19th century), is a rare progressive degenerative disease which affects approximately 1 patient in 25,000 people each year. It usually occurs in patients aged 60 to 65 years old (more common in men than in women). The causes are still debated but we know that it alters the neurons. The symptoms affect the muscles. This serious illness reduces life expectancy. In France, more than 800 new cases are diagnosed each year and approximately 7,000 people are affected in France. the famous astrophysicist Stephen Hawking, suffering from this pathology, has contributed to talk about ALS. In France, comedian Jean-Yves Lafesse, his real name Jean-Yves Lambert, died of Charcot’s disease at the age of 64, Thursday, July 22, 2021 in Vannes, Brittany. What’s this Charcot’s disease or ALS? At what age can we have it? What is the treatment to cure it? What life expectancy ?
Definition: what is Charcot’s disease?
Amyotrophic lateral sclerosis (ALS) is a rare progressive degenerative disease that affects motor neurons. It is characterized by a weakness and then paralysis of the muscles of the legs and arms, respiratory muscles, as well as swallowing and speech muscles. Intellectual and sensory functions are not affected. This serious progressive disease reduces the life expectancy of those affected.
At what age can you have Charcot’s disease?
The average age of onset of this pathology is around 60 years old with a slight male predominance. Very active people, including great athletes, are more frequently affected.
How do you get Charcot’s disease?
We do not know the originbut it leads to an alteration of the neurons allowing the transfer of the order of movement : we call them motor neurons. These neurons are affected both in the central nervous system, brain and spinal cord, but also in the peripheral nerves. It inexorably leads to the death of nerve cells that allow voluntary muscle movement, followed by paralysis. We still do not know the exact causes of this degeneration, but several theories are currently being discussed by scientists: a too high level of glutamate (a “messenger” who intervenes in the transmission of nervous messages), the disruption of a “growth factor” (substance that promotes the growth of certain cells), an abnormal inflammation reaction or a combination of these different hypotheses.
What are the first symptoms of Charcot’s disease?
ALS can present in two main forms: the “spinal” shape (which begins with the involvement of a limb), and the “bulbar” shape (which begins with damage to the muscles of the mouth). The person affected may present various symptoms of progressive evolution which extend progressively:
- of the muscle cramps,
- difficulties in mobilization, progressing to paralysis,
- a decrease in muscle mass, called amyotrophy,
- slowing of movements,
- involuntary contractions of certain muscle bundles in the form of fasciculations,
- swallowing disorders,
- food difficulties,
- speech disorders.
How to diagnose Charcot’s disease?
“There is no no specific test to diagnose ALS. Since the first symptoms can be quite subtle (cramps, hand weakness, voice change), doctors sometimes have difficulty making the diagnosis. They must above all “eliminate” the diseases close to ALS“, says Dr. Claire Lewandowski, a doctor specializing in general medicine. Additional examinations, such as the electromyogramas well as a possible muscle biopsy lead to heightened suspicion. A brain imaging test (MRI)a lumbar puncture and blood tests are often offered.
How to treat Charcot’s disease?
One drug, riluzoleslows the progression of the disease. It lowers glutamate levels, this nerve messenger that may be found in excess in people with ALS. It is usually prescribed as soon as the disease is suspected. In addition, some medications can help with symptoms (analgesics, antidepressants, laxatives, etc.) and non-drug measures can be put in place to relieve and support those affected. A psychological support, physiotherapy, rehabilitation or speech therapy sessions can help patients maintain muscle flexibility, and retain their independence and ability to communicate for as long as possible. Medical and social care and the installation of technical aids are also essential.
How does Charcot’s disease evolve?
Charcot’s disease dramatically reduces life expectancy
ALS is a disabling neurodegenerative disease (at the motor level) which significantly reduces life expectancy. It evolves to a different rhythm from one affected person to another without it being possible to predict its duration of evolution, even if the form of ALS with bulbar onset is characterized by a more rapid evolution. Difficulty breathing related to paralysis of the respiratory muscles and respiratory infections (which can be favored by swallowing disorders) are the most common cause of death.
What is the life expectancy with Charcot’s disease?
The life expectancy of a person with ALS is approximately 3 to 5 years after diagnosis. However, with improved support, 20% of those affected live five years or more after diagnosis, and 10% live more than 10 years or more. There are also mild forms of the disease which remain stable for more than 30 years, but they are rare.
Evidence of Charcot’s disease
Thank you to Dr Claire Lewandowski, doctor specializing in general medicine.