ALS is a rare neurodegenerative disease that attacks motor neurons in the brain, and leads to a gradual loss of mobility.
What is ALS?
Amyotrophic Lateral Sclerosis (ALS), or Lou Gehrig's Disease, affects around 120,000 new people worldwide every year. Diagnosis of the disease has seen a significant increase over the past fifty years.
That said, Charcot disease is still poorly understood despite its worrying consequences and risk of paralysis. What is known, is that it is a neurodegenerative pathology that affects the motor neurons in the brain (those that manage the body's movements, as well as the spinal cord).
Symptoms of ALS
ALS usually occurs between the ages of 55 and 70 years old, and exists in many forms. The one known as "spinal" begins at the extremities of the limbs, while the other, "bulbar", and manifests itself in the cerebral regions that manage swallowing, phonation, and language-related motor skills.
Distinction between the two is not easy, as both tend to evolve in the same way. In both cases, the symptoms are the same and resemble those of several other disorders:
- weakness when walking-sensations of stiffness
- difficulty speaking, smiling, and swallowing
- muscle loss
Diagnosis of ALS
The evolution of the disease is highly variable from one individual to another, and can last anywhere from a few months to several years. This prevents doctors from making an accurate prognosis. A diagnosis of ALS is mainly based on the detection of clinical manifestations of the disease. An electromyogram (EMG) must also be done to confirm the presence of affected neurons in several regions of the brain. This makes it possible to evaluate their importance and reach.
Other examinations may be performed such as blood tests, an MRI, and even a biopsy in some cases. Once a diagnosis is made, patients should be regularly monitored to assess the rate of progression of the disorder and to monitor respiratory functions.
Treatment of ALS
As the disease progresses, the state of mobility becomes increasingly important until the paralysis of different functions occurs. Despite extensive research, there is still no cure for ALS. The treatment is therefore based on slowing down the progression of the disease.
Riluzole is the only effective drug treatment known today. This only has a moderate effect, though, as it prolongs life by only a few months. Other treatments are currently under study, such as lithium, but none have been completed yet. In addition to drug treatment, patients must also undergo physiotherapy sessions to combat motor deficits, and speech therapy to combat speech disorders.
After the appearance of the first symptoms, the life expectancy of a patient with ALS is usually only a few years. Neuronal damage leads to the appearance of swallowing disorders that facilitate malnutrition. The involvement of the respiratory muscles increases the risk of infections and may lead to respiratory distress.
Causes of Charcot Disease
Although there is not much more known about ALS than there was a few years ago, its management remains complicated as the true causes of the disease are still unknown. According to specialists, 90% of patients suffer from a sporadic form of the disease. Genetic causes have also been considered, but this would only concern 5-10% of suffers. For others, the roles of several environmental risk factors have been suggested, but have not yet been confirmed.
Potential factors include - but are not limited to - certain professional activities (farming), exposure to pesticides or solvents, major physical trauma, tobacco, or being overweight. Genes of predisposition or of susceptibility may also play a role.
Research continues, however, in an effort to find out more. In August 2011, a study published in the journal 'Nature' advanced a theory that the failure of protein recycling in certain cells of the central nervous system (CNS) could be the origin of ALS, opening the way for new, more effective treatments.