This neurodegenerative disease progresses to muscle paralysis and causes motor disorders.
Amyotrophic Lateral Sclerosis (ALS), or Charcot’s disease, is a degenerative disease of the nervous system that affects motor neurons (or motoneurons). It affects between 5,000 and 7,000 patients in France with an annual incidence close to 2.5 per 100,000 inhabitants. It manifests itself on average at the age of 55-60 years, and affects 1.5 men for 1 woman.
The motor neurons located at the level of the brain and the medulla oblongata, the spinal cord gradually disappear. Muscle weakness gradually leads to motor disorders and then to paralysis. This can start anywhere but eventually affects all the limbs and the head.
After the onset of the disease, the life expectancy for those diagnosed is on average 3 to 5 years. Its evolution varies according to the patients, it remains unpredictable.
ALS, two forms
There are two forms of Charcot’s disease, which can follow one another or occur at the same time:
- The bulbar form which first affects the muscles of the mouth. The patient then experiences speech and swallowing difficulties;
- The spinal form which begins by affecting the muscle fibers of the limbs which are no longer solicited (hands and legs in particular).
How does Charcot’s disease work?
The degeneration of the motor neurons of the central nervous system induce the end of the transmission of the message to the muscles. When the stage is advanced, the respiratory muscles are affected and the vital prognosis is then engaged.
Other cells are also affected by the disease, and these are those supporting motor neurons.
Causes of ALS
In 1 case out of 10, it is a mutation genetic hereditary which is involved. Six major genes are accused, and their mutations affect 70% of family cases. For the rest, the research still working.
In 9 out of 10 cases, there is no family history. If genetic factors are at work to promote the occurrence of ALS, the latter would also be linked to environmental factors (exposure to heavy metals, pesticides..).
Diagnosis of Charcot’s disease
The first signs may go unnoticed (such as stumbling or encountering a temporary difficulty in speaking, etc.). But during its evolution, signs make it possible to indicate the atrophy of motor neurons in the upper or lower part of the spine.
Lower part
- Weak muscles, atrophying;
- Involuntary twitching of muscles;
- Cramps;
- Impaired reflexes;
- Muscular tone at half mast;
- Difficulty swallowing;
- Inability to articulate well;
- Shortness of breath, even at rest.
The top part
- muscle stiffness;
- Decreased ability to control laughing or crying;
- Increased reflexes, or overactive reflexes.
Tests needed to make a diagnosis:
- an electroneuromyography (ENMG) to confirm damage to the motor neurons of the anterior horn of the spinal cord and to gauge its extent and extent;
- an MRI of the brain and spinal cord;
- magnetic stimulation;
- a genetic study in case of familial form.
ALS support
It is currently not possible to cure ALS but a treatment can slow its progression: riluzole.
As for its care, it concentrates several specialties: neurology, pneumology, gastroenterology, speech therapy, physiotherapy, dietetics, etc. Regular monitoring is the basis of care.