The ALS

What is ALS?

Amyotrohic Lateral Sclerosis is an incurable neurological disease which attacks the neurones responsible for controlling the voluntary muscles, causing them to progressively cease functioning.

GPatients gradually start having difficulties with functions as basic as walking, eating, talking or getting out of bed. And they are totally aware of their illness because their intellectual capabilities remain intact. They know that their average life expectancy is between 2 and 5 years.

It is a minority disease, invisible to society. So invisible that in the last 20 years not a single important advance has been made either in its treatment or towards a cure, due to a lack of economic and institutional support.

The initial stages of ALS do not share a single clinical or definite pattern, on the contrary they are characterised by a large clinical variation. Many of these symptoms are easily attributable to other diseases, which enormously complicates the diagnosis since medical professional can easily confuse them with other pathologies. This fact, added to the absence of biological biomarkers, to a great extent makes an appropriate and early diagnosis complicated. It is defined by eliminating other diseases which present the same symptoms, meaning that those affected can have to wait up to a year before being diagnosed.

According to the National Health Service Strategy for Neurodegenerative Diseases (2016), 3 cases of ALS are detected in Spain each day, the average onset age being between 60 and 69 years, with more than 50% of those affected being of working age.

More about ALS

ALS is a disease of the nervous system, characterised by the progressive degeneration of the motor neurones in the cerebral cortex (upper motor neurones), brain stem and spinal cord (lower motor neurones).

To date, this has been an incurable disease, fatal from its onset. Half of people with ALS die in less than 3 years, 80% in less than 5 years, and the majority (more than 95%) in less than 10 years. It is worth mentioning that the survival rate after diagnosis is more than 5 years in only 10% of cases. 

There are cases where a significantly different survival rate to the majority of patients has been observed, which clearly suggests a potentially incorrect diagnosis of some cases which in the beginning were classified as ALS cases. In this disease, motor autonomy, oral communication, swallowing and breathing are compromised.

The muscular paralysis which it brings leads to a physical disability while preserving the mental, feeling and motility functions along with control of the sphincter 1.

This illness is also known as Charcot´s disease, after a pioneering neurologist in the diagnosis of the condition between 1865 and 1874, or also as Lou Gehrig disease, after an American baseball player diagnosed with the affliction. The former, the French Dr Jean-Martin Charcot, described it as a sporadic disease of the adult, the result of a progressive idiopathic degeneration of the motor neurone system, including not only the upper motor neurones in the motor cortex and its corticobulbar and corticospinal tracts, but also the peripheral nervous system 2.

TAll of this causes progressive, rapid and generalised weakness and muscular atrophy which frequently ends in death 2. In 1874 Charcot used the term ALS for the first time, conferring the name on the disease by reference to the hardening of the lateral columns of the spinal cord clearly visible during autopsies (lateral sclerosis) and the muscular atrophy impairment of the lower motor neurones which is accompanied by weakness and involuntary contractions of groups of muscular fibres (fasciculations) and the huge loss of muscle mass (amyotrophic).

In 1933, Brain introduced the term Motor Neurone Disease, thus encompassing the different clinical pictures observed up until that time in those whose motor system structures were affected, and proposed that all of these entities could be grouped together as a single illness 3. ALS is included in the so-called motor neurone diseases (MND) after the description of Brain and Walton in 1969 4.

ALS: the data