Charcot’s disease, also called amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease. It gradually reaches the neurons and leads to muscle weakness followed by paralysis. The life expectancy of patients remains very short. In English, it is also called Lou Gehrig’s disease, in honor of a famous baseball player suffering from this disease. The name “Charcot” comes from the French neurologist who described the disease.

The neurons affected by Charcot’s disease are motor neurons (or motor neurons), responsible for sending information and movement orders from the brain to the muscles. The nerve cells gradually degenerate and then die. The voluntary muscles are then no longer controlled by the brain nor stimulated. Inactive, they end up not functioning and atrophy. At the start of this progressive neurological disease, the affected person suffers from muscle contractions or weakness in the limbs, arms or legs. Some have speech problems.

Achievement of upper motor neuron is mainly manifested by slowing of movements (bradykinesia), reduced coordination and dexterity and muscle stiffness with spasticity. Achievement of lower motor neuron manifests itself mainly by muscle weakness, cramps and atrophy of muscles leading to paralysis.

Charcot’s disease can make swallowing difficult and prevent people from eating properly. Sick people can then suffer from malnutrition or take the wrong path (= accident linked to the ingestion of solids or liquids through the respiratory tract). As the disease progresses, it can affect the muscles necessary for breathing.

After 3 to 5 years of evolution, Charcot’s disease can therefore cause respiratory failure which can lead to death. The disease, which affects men a little more than women (1,5 to 1) usually starts around 60 years old (between 40 and 70 years old). Its causes are unknown. In one in ten cases a genetic cause is suspected. The origin of the onset of the disease probably depends on various factors, environmental and genetic.

There is no no treatment of Charcot’s disease. A drug, riluzole, slightly slows the progression of the disease, this evolution being very variable from one person to another and even, in the same patient, from one period to another. In some, the disease, which does not affect the senses (vision, touch, hearing, smell, taste), can sometimes stabilize. ALS requires very close monitoring. Management consists mainly of relieving the symptoms of the disease.

Prevalence of this disease

According to the association for research on Charcot’s disease, the incidence of Charcot’s disease is 1,5 new cases per year per 100 inhabitants. Either close to 1000 new cases per year in France.

Diagnosis of Charcot’s disease

The diagnosis of ALS helps differentiate this disease from other neurological diseases. It is sometimes difficult, in particular because there is no specific marker of the disease in the blood and because at the beginning of the disease, the clinical signs are not necessarily very clear. The neurologist will look for stiffness in the muscles or cramps for example.

The diagnosis may also include a electromyogram, examination that allows to visualize the electrical activity present in the muscles, an MRI to visualize the brain and the spinal cord. Blood and urine tests may also be ordered, especially to rule out other illnesses that might have symptoms common to ALS.

Evolution of this disease

Charcot’s disease therefore starts with muscle weakness. Most often, it is the hands and legs that are affected first. Then the muscles of the tongue, the mouth, then those of breathing.

Causes of Charcot’s disease

As has been said, the causes are currently unknown in about 9 out of 10 cases (5 to 10% of cases are hereditary). Several avenues that could explain the appearance of the disease have been explored: autoimmune disease, chemical imbalance… For the moment without success.