Known as ‘Charcot’s disease’ after the French neurologist who first described it between 1865 and 1874 – or ‘Lou Gehrig’s disease’ – after the famous baseball player who retired in 1939 to suffer from it, lateral sclerosis (ALS) presents its first symptoms every year about 700 people in Spain, according to data from the Spanish Society of Neurology.
ALS has established itself as the third most common neurodegenerative disease in our country, after Alzheimer’s and Parkinson’s. However, only between 3,000 and 4,000 people are suffering from it now, because of the high mortality it presents. Half of the people with ALS die less than three years after the onset of the first symptoms; 80%, less than five; and 95% less than ten.
People who manifest this disease of the central nervous system suffer from progressive degeneration of motor neurons, which transmit nerve impulses from the central nervous system to different muscles of the body. And through this, they experience weakness of the muscles, which can progress to paralysis and spreads from one body to another region.
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What types of amyotrophic lateral sclerosis are there?
According to the region in which the symptoms initially appear, ALS can be ‘medullary’ or ‘bulbar’, as indicated by Adriana Guevara, president of the Spanish Amyotrophic Lateral Sclerosis Association (adELA), in an interview with Neutral.
While “spinal” ALS “begins to develop in the lower motor neurons” – located in the spinal cord, and “numbs the upper and lower extremities”, “bulbar” ALS begins by affecting the motor neurons located in the brain stem and causing progressive paralysis “swallow, communication and breathing”, as explained by the President of ELA. But “there will come a time when these two manifestations of the disease will coexist and the patient will die with respiratory failure.”
Although it is true that ALS is not considered an inherited disease, between 5% and 10% of patients develop so-called “familial” variants, the missing gene inherited from a parent. The most common variant is “sporadic”, which is recorded in more than 90% of cases. This appears completely sporadically and it is not possible to identify any risk factors associated with it. As Adriana Guevara explains, the symptoms presented by both variants are identical.
What are the first symptoms of the disease?
Although the senses, intellect and eye muscles remain intact, the disease affects oral communication, swallowing, breathing and motor autonomy, gradually increasing the dependence of the patient to carry out the activities of daily life.
As Adriana Guevara Neutral.es points out, from the onset of the disease, when it comes to ‘bulbar’ amyotrophic lateral sclerosis, the patient can manifest a lack of voice – he cannot articulate the phonemes well or he cannot express himself well. I can’t breathe well. When the spinal cord, that which fails is the leg, the patient falls, he cannot open the door, neither the force nor the glass drops.
The diagnostic process is complex, due to the absence of biological markers and the variety of clinical presentations that the disease can manifest. So his first exposure was unusual and “a period of 8 to 10 months” until he was finally diagnosed.
Who is more likely to have this disease and what are the risk factors?
ALS can manifest itself in a wide range of ages, between 15 and 90 years. and the average age of onset is between 55 and 65 years, according to the Spanish Foundation for the Promotion of Amyotrophic Lateral Sclerosis (FUNDELA). In addition, “familial” cases tend to start, on average, about ten years before “sporadic” cases.
Regarding its distribution by sex, the adELA society estimates that “familial” forms affect men and women in the same way, while “sporadic” forms manifest themselves in 1.78 men for every woman, although over 70 years this trend tends to equalize. .
So far, no direct risk factor for the onset of the disease has been identified. In the origin of ALS, research suggests exogenous factors rather than genetics, but no environmental or dietary factors are known to explain its appearance.
Is there a cure or treatment for amyotrophic lateral sclerosis?
There is no cure for ALS, however, in recent decades, important progress has been made in the understanding of this disease and its research has resulted in some treatments, which are still in the experimental phase. In Spain, between 2021 and 2022, four of these clinical trials have been approved and authorized.
Without treatment that cures or makes the disease chronic, palliative treatments are gaining great importance. Among them are “respiratory physiotherapy, speech therapy to teach methods of communication systems or psychology” and, at some point, “there are patients who need a feeding tube”, as Adriana Guevara points out.
Although comprehensive hospital care for amyotrophic lateral sclerosis is not formally regulated in Spain, there are experiences in some hospitals that provide interdisciplinary care to patients and families. In response to the repeated demands of patient associations, the Community of Madrid announced last February the first public residential center in the world dedicated exclusively to patients with ALS, which will be located in the old Puerta de Hierro Hospital.
Adriana Guevara, president of the Spanish Association of Amyotrophic Lateral Sclerosis (adELA).
Spanish Society of Amyotrophic Lateral Sclerosis (adELA).
Spanish Foundation for the Promotion of Research in Amyotrophic Lateral Sclerosis (FUNDELA).