Amyotrophic Lateral Sclerosis (ALS): symptoms and treatment

Despite its low incidence but great visibility, Amyotrophic Lateral Sclerosis is, along with many other neurodegenerative conditions, one of the greatest challenges those faced by the scientific community. Since, although it was described for the first time in 1869, there is still very little knowledge about it.

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

• Related article: "Neurodegenerative diseases: types, symptoms and treatments"

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. The reason is that famous personalities who suffer from it, such as scientist Stephen Hawking or baseball player Lou Gehrig, which 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 stop working and die. These cells are in charge of controlling the movement of the 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 the patients suffer a total paralysis of the body to which is added a decrease in muscle control inhibitory.

In most cases, the patient is forced to remain in a wheelchair in a state of total dependence and whose prognosis is usually fatal. However, despite this absolute loss of ability to perform virtually any movement, ALS patients keep their sensory, cognitive and intellectual abilities intact, since any brain function not related to motor skills remains immune to this neurodegeneration. In the same way, the control of eye movements, as well as the sphincter muscles are preserved until the end of the person's days.

• You may be interested: "Motor neurons: definition, types and pathologies"

Prevalence

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

Regarding the characteristics of the population with a greater probability of developing this disease, ALS tends to appear to a greater extent in people between 40 and 70, and with much more often in men than in women, although with nuances, as we will see.

What symptoms does it present?

The first symptoms of Amyotrophic Lateral Sclerosis 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 perform movements, eat or to breathe. Although these first symptoms may vary from person to person, over time, the atrophy of affects the muscles leads to a great loss of muscle mass and, consequently, of body weight.

In addition, the development of the disease is not the same for all muscle groups. Sometimes, the muscular degeneration of some parts of the body occurs very slowly, and can even stop and remain in a certain degree of disability.

As mentioned above, the sensory, cognitive and intellectual capacities are totally preserved; as well as toilet training and sexual functions. However, some people affected by ALS may develop secondary psychological symptoms associated with the state in which they are and of which they are fully aware, these symptoms are associated with alterations in affectivity such as emotional lability or depressive phases.

Although Amyotrophic Lateral Sclerosis is characterized by developing without causing any type of pain in the patient, the appearance of muscle spasms and progressive decrease in mobility they usually cause discomfort in the person. However, these annoyances can be alleviated with physical exercises and medication.

Causes

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

However, recent studies open different possibilities when determining the possible causes of ALS:

1. Genetic alterations

According to the 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 proven that ALS patients tend to present abnormally high levels of glutamate, in which it can be toxic to certain types of neurons.

• You may be interested: "Glutamate (neurotransmitter): definition and functions"

3. Altered immune responses

Another hypothesis is the one that relates 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. Poor protein administration

The abnormal formation of proteins found within nerve cells could cause a breakdown and destruction of nerve cells.

Risk factor's

As for the risk factors traditionally associated with the appearance of Amyotrophic Lateral Sclerosis, the following are found.

Genetic heritage

People with any of their parents with ALS you have a 50% greater chance of developing the disease.

Sex

Before the age of 70, males are a higher risk factor for developing ALS. Starting in the 70s, this difference disappears.

Age

The age range between 40 and 60 years is the most likely when the symptoms of this disease appear.

Smoking habits

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

Exposure to environmental toxins

Some studies link the environmental toxins, such as lead or other toxic substances present in buildings and homes, to the development of ELA. 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 have not yet been established, individuals serving in the military are at increased risk for ALS; it is speculated that due to exposure to certain metals, injuries and intense exertion.

Treatment and prognosis of ALS

At the moment, an effective cure for ALS has not 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 groups of multidisciplinary specialists, a series of both physical and psychological treatments can be carried out.

By administering some specific medications such as riluzole or edaravone, it can delay the progression of the disease, as well as reduce the deterioration in daily functions. Unfortunately, these drugs do not work in all cases and they still have many side effects.

Regarding the rest of the consequences of Amyotrophic Lateral Sclerosis, symptomatic treatment has been found to be highly effective when it comes to alleviating symptoms such as depression, pain, feeling tired, phlegm, constipation or sleep problems.

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

• Physiotherapy.
• Respiratory care.
• Occupational therapy.
• Talk 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 expectancies are restricted to between 3 and 5 years after the diagnosis of the first symptoms.

However, around 1 in 4 people can survive much more than 5 years, as is the case with Stephen Hawkins. In all these cases the patient requires a large number of devices to keep them alive.