Amyotrophic Lateral Sclerosis (ALS): symptoms and treatment

This disease has gained much visibility thanks to campaigns such as the Ice Bucket Challenge.

Despite its low incidence but high visibility ALS is, along with many other neurodegenerative conditions, one of the greatest challenges facing the scientific community. facing the scientific community. Despite the fact that it was first described in 1869, there is still very little knowledge about it.

Throughout this article we will discuss this disease, its main characteristics and the symptoms that distinguish it from other neurological diseases. We will also describe its possible causes and the most effective treatment guidelines.

What is Amyotrophic Lateral Sclerosis or ALS?

Amyotrophic Lateral Sclerosis (ALS), also known as motor neuron disease, is one of the best known neurodegenerative diseases worldwide.is one of the best known neurodegenerative diseases worldwide. The reason is that celebrities who suffer from it, such as the scientist Stephen Hawking or the baseball player Lou Gehrig, have given it great visibility.

Amyotrophic Lateral Sclerosis is distinguished by causing a gradual decrease in the activity of motor cells or motor neurons, which eventually cease to function.which eventually cease to function and die. These cells are responsible for controlling the movement of voluntary muscles. Therefore, when they die, they cause the weakening and atrophy of these muscles.

This disease progresses gradually and degeneratively, which means that Muscle strength gradually declines until patients suffer a total paralysis of the body which is joined by a decrease in inhibitory muscle control.

In most cases, the patient is forced to remain in a wheelchair in a state of total dependence and the prognosis is usually fatal. However, despite this absolute loss of the ability to perform virtually any movement, ALS patients retain their sensory, cognitive and intellectual abilities, ALS patients retain their sensory, cognitive and intellectual abilities intact, as any unrelated brain function is not affected.The brain function of any non-motor brain function remains immune to this neurodegeneration. Likewise, control of eye movements and sphincter muscles are preserved until the end of the person's life.

Prevalence

The incidence of Amyotrophic Lateral Sclerosis is of about two cases per year in every 100,000 people in the general belonging to the general population. In addition, it has been observed that ALS tends to affect certain groups of people to a greater extent, including soccer players or war veterans. However, the causes of this phenomenon have not yet been determined.

As for the characteristics of the population most likely to develop the disease, ALS tends to occur most often in people between the ages of 40 and 70, and much more frequently in men than in women. much more frequently in men than in womenalthough with nuances, as we shall see.

What are the symptoms?

The first symptoms of ALS are usually involuntary muscle contractions, muscle weakness in a specific limb or alterations in the ability to speak which, with the development of the disease, also affect the ability to move, eat or breathe. Although these early symptoms may vary from person to person, over time, atrophy of the muscles leads to a large loss of muscle mass and, consequently, of body weight. and, consequently, of body weight.

Moreover, the development of the disease is not the same for all muscle groups. Sometimes, muscle degeneration in some parts of the body proceeds very slowly and may even stop and remain at a certain degree of disability.

As mentioned above, sensory, cognitive and intellectual abilities are fully preserved, as are sphincter control and sexual functions. However, some people affected by ALS may develop secondary psychological symptoms associated with ALS. may develop secondary psychological symptoms associated with the state in which they find themselves. and of which they are fully aware, these symptoms are associated with affective disturbances such as emotional lability or depressive phases.

Although Amyotrophic Lateral Sclerosis is characterized by the fact that it develops without causing any pain in the patient, the appearance of muscle spasms and the progressive decrease in mobility often cause discomfort the patient, the onset of muscle spasms and the progressive decrease in mobility often cause discomfort. However, these discomforts can be alleviated with physical exercises and medication.

Causes

Although the causes of Amyotrophic Lateral Sclerosis have not been established with certainty at this time, it is known that between 5 and 10% of the cases are caused by an inherited genetic alteration..

However, recent studies open different possibilities to determine the possible causes of ALS:

1. genetic alterations

According to researchers, there are a number of genetic mutations that can cause Amyotrophic Lateral Sclerosis, which cause the same symptoms as non-inherited versions of the disease..

2. Chemical imbalances

It has been shown that ALS patients tend to have abnormally high levels of glutamate, which can cause abnormally high levels of glutamate, which can be toxic.which can be toxic to certain types of neurons.

3. Alterations in immune responses

Another hypothesis is the one that links ALS with a disorganized immune response.. As a consequence, the person's immune system attacks the body's own cells and causes neuronal death.

4. Deficient protein delivery

Abnormal formation of the proteins found inside nerve cells could lead to a degradation and destruction of nerve cells.

Risk Factors

Risk factors traditionally associated with the development of ALS include the following.

Genetic inheritance

People with a parent with ALS have a 50% greater chance of developing ALS. have a 50% greater chance of developing the disease.

Gender

Before the age of 70, male sex is a higher risk factor for developing ALS. After the age of 70, this difference disappears.

Age

The age range between 40 and 60 years is the most prone to the onset of ALS symptoms.

Smoking habits

Smoking is the most dangerous external risk factor for developing ALS. when it comes to developing ALS. This risk increases in women from 45-50 years of age.

Exposure to environmental toxins

Some studies link environmental toxins, such as lead or other toxic substances present in buildings and homes, to the development of ALS.to the development of ALS. However, this association has not yet been fully demonstrated.

Certain groups of people

As discussed at the beginning of the article, there are certain specific groups of people who are more likely to develop ALS. Although the reasons for this have not yet been established, people with military service have an increased risk of ALS; It is speculated that exposure to certain metals, injuries, and intense exertion may be responsible for this increased risk..

Treatment and prognosis of ALS

At present, no effective cure for ALS has been developed. Therefore, although treatments cannot reverse the effects of ALS, they can delay the development of symptoms, prevent complications, and improve the patient's quality of life. Through intervention with multidisciplinary groups of specialists, a series of physical and psychological treatments can be carried out.

Through the administration of specific medications such as riluzole or edaravone, the progression of the disease can be slowed down, as well as reducing the deterioration in daily functions.. Unfortunately, these drugs do not work in all cases and still have numerous side effects.

As for the other consequences of amyotrophic lateral sclerosis, symptomatic treatment has been shown to be effective, symptomatic treatment has proven to be highly effective in relieving symptoms such as depression, pain, feelings of tiredness, phlegm, constipation or sleep problems.

The types of interventions that can be carried out with patients suffering from amyotrophic lateral sclerosis are:

• Physical therapy.
• Respiratory care.
• Occupational therapy.
• Speech therapy.
• Psychological support.
• Nutritional care.

Despite the types of treatments and interventions, the prognosis for ALS patients is quite guarded. With the development of the disease, patients lose the ability to be autonomous. Life expectancy is restricted to 3 to 5 years after the diagnosis of the first symptoms.

However, about 1 in 4 people may survive much longer than 5 years, as in the case of Stephen Hawthorne.as in the case of Stephen Hawkins. In all these cases the patient requires a large number of life-support devices.