ALS is fatal, progressing on average over a period of three to five years. It illustrates the complexity of neurodegenerative diseases, as it affects not only motor skills but can also, in some cases, impair cognitive and behavioural functions.
Pathophysiology
ALS targets two types of motor neuron: central motor neurons, located in the motor cortex of the brain, and peripheral motor neurons, located in the spinal cord. These nerve cells transmit movement commands from the brain to the muscles, enabling voluntary actions such as walking, speaking or breathing. When these neurons deteriorate, the transmission of nerve signals is interrupted, causing the muscles to atrophy and eventually become completely paralysed. This condition is unique in that it affects both upper and lower motor neurons, which complicates diagnosis and management.
Symptoms of Charcot disease
The symptoms of ALS vary from person to person, but generally follow an identifiable progression. Early signs include localized muscle weakness, often seen in an arm, a leg or around the mouth and throat. These insidious beginnings can make simple tasks such as walking, buttoning a shirt or speaking clearly difficult. Gradually, muscle weakness spreads to other parts of the body. Fasciculations (involuntary muscle contractions) and spasticity (stiffness) are also common. As the disease progresses, patients may lose the ability to move, speak, swallow and breathe independently.
The rapid progression of the disease makes it particularly serious. Respiratory complications are often responsible for the death of patients, hence the importance of early and appropriate treatment.
Causes of Charcot disease
Charcot disease is a multifactorial illness, the exact causes of which are still not fully understood. However, current research identifies two main causes: genetic and environmental. Around 10% of cases of ALS are hereditary, linked to mutations in genes such as SOD1, C9orf72 or TARDBP. These mutations disrupt the functioning of motor neurons and promote their degeneration. Sporadic cases, which account for the majority of diagnoses, could be attributed to a complex interaction between minor genetic factors, repeated cranial trauma and environmental exposures, such as toxins or pesticides.
Facteurs de risque de la maladie de Charcot
Certain factors increase the likelihood of developing ALS. Age is a major factor, with the disease generally appearing between the ages of 55 and 75. Men seem to be slightly more affected than women before the age of 65, although this difference diminishes with age.
Diagnosing ALS
The diagnosis of Charcot's disease is based on a combination of clinical observations and complementary examinations. Neurologists look for distinctive signs of degeneration of central and peripheral motor neurons, including progressive muscle weakness, muscle wasting and abnormal reflexes. To confirm the diagnosis, an electromyogram is performed to detect abnormalities in the transmission of nerve signals to the muscles. Other tests, such as an MRI scan, are used to rule out pathologies that could be related to ALS, such as mechanical compression or inflammatory diseases.
Treating ALS
Although there is no cure for Charcot disease, several treatments can slow its progression and improve patients' quality of life.
At the same time, multidisciplinary care, including physiotherapy and respiratory assistance, plays an essential role in supporting patients.
Progression and possible complications
The complications of Charcot's disease are various and often include respiratory failure, lung infections and malnutrition due to swallowing difficulties. These developments considerably worsen the condition of patients, making close medical monitoring and regularly adjustments in care essential.
Preventing ALS
Unfortunately, there are no definitive preventive measures for ALS. However, avoiding exposure to known toxins and maintaining a healthy lifestyle could help reduce the risk of developing the disease.
When should you contact the Doctor?
It is important to consult a healthcare professional if symptoms such as unexplained muscle weakness, difficulty swallowing or breathing appear. Early diagnosis can optimize treatment and slow the progression of the disease.
Care at Hôpital de La Tour
Hôpital de La Tour has a multidisciplinary team within its Neurology Centre to treat patients suffering from ALS.
FAQ on ALS
What are the first signs of ALS?
The first signs include localised muscle weakness and fasciculations.
Is Charcot disease hereditary?
In around 10% of cases, it is linked to genetic mutations.
Can ALS be cured?
There is currently no cure, but treatments are available to slow its progression and improve the quality of life of affected patients.
What are the main risk factors?
Age, male gender and exposure to toxins are the main factors.