Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative disease that appears in most cases after 50 and leads to a degeneration of motor neurons or motor neurons. The disease is also known as Lou Gehrig’s disease, named after the famous American baseball player affected, or Charcot’s disease after the French neurologist who first described it in 1860. In most cases, beyond 90 percent, the disease is sporadic. There is still no certainty about its causes even though many studies have been carried out and many hypotheses have been advanced in recent years.
The causes of ALS
Jean-Martin Charcot first outlined ALS in the late 1800s. Although important research advances have been made over this long period, the causes of motor neuron cell degeneration have not been identified.
Sporadic ALS is thought to be a complex genetic disease. It is possible that the cause of ALS is a defect in the construction of a motor neuron protein (by alteration of genes) but that the disease occurs only in combination with other factors, which may be other altered genes or environmental factors. So even if the cause is genetic, the condition is not hereditary because several factors must coincide.
Symptoms of ALS
In ALS, the first and second motor neurons rapidly degenerate and die. Their death occurs gradually and the remaining motor neurons, at least in part, replace the destroyed ones in their functions. The first signs of the disease appear when the progressive loss of motor neurons exceeds the compensatory capacity of the surviving motor neurons.
At the first onset of the disease, in most cases, the following symptoms are felt, often combined: muscle weakness in the hands and arms, legs; fasciculations (uncontrolled vibrations of the muscles visible as subcutaneous “twitches”) and muscle cramps (especially at night); difficulty in speech and weakness of tone of voice; in some rare cases, high rate of breathing and difficulty in swallowing.
Suppose the motor neurons of the bulbar region are first affected. In that case, the affected muscles are those responsible for speech, breathing, and swallowing, and the patient experiences difficulty chewing, swallowing, and speaking.
The progression of ALS
ALS continues to compromise body muscles during its progression, relentlessly affecting speech, chewing, swallowing, and breathing.
Although the life expectancy for an ALS patient is average between three and five years, the progression can be lightning-fast (one year) or even very long (ten years or more).
Diagnostic tests in ALS
There are no specific tests to diagnose ALS. It can emerge through a series of diagnostic tests carried out by the neurologist to exclude all those pathologies that can be confused with ALS and present similar first symptoms. The diagnostic tests are CT, MRI, EEG, EMG, Muscle biopsy, Blood and urine test.
There is currently no cure for this disease.
The only drug available for ALS therapy is riluzole, which intervenes in the metabolism of glutamate by reducing its availability at the level of neuronal synapses. Some studies have highlighted the negative role of an excess of glutamate on motor neurons.
Multidisciplinary teams provide these treatments made up of specialists such as the neurologist, the nutritionist, the pulmonologist, the psychiatrist, the psychologist, the motor and respiratory physiotherapist, the occupational therapist, the speech therapist, the nurse, and experts in argumentative.