June 21 World ALS Day

Every day about 3 cases of ALS are diagnosed in Spain, 1,000 a year.

(Madrid. Lucila Rodríguez)

Every day in Spain about three cases of amyotrophic lateral sclerosis (ALS) are diagnosed, which means about 1,000 per year, according to Dr. Jesús Esteban Pérez, a neurologist specializing in neuromuscular diseases from the Neurology Department of the Ruber Internacional Hospital, on the occasion of the celebration of World ALS Day.

It is a neurodegenerative disease caused by the lesion of motor neurons and whose symptoms include muscle weakness or loss of motor agility in any muscle of the body, accompanied by alterations in sensitivity or sphincter control.

“As the disease has a focal and slow onset, initially many other diseases may present similar symptoms. As the disease progresses, it shows clearer signs, and when it has progressed, it can hardly be confused with others,” explains the neurologist, who regrets the lack of a laboratory test to diagnose the disease.

In this regard, the doctor stresses the importance of the EMG study to confirm the presence of signs of neurological involvement, as well as the normality of other parameters of sensory function and motor nerve conduction. The rest of the tests performed to diagnose ALS are aimed at confirming or excluding other diseases that could have a similar expression.

Biomarkers for the diagnosis of ALS

However, targeted genetic studies can also be performed to search for associated genetic variants (although they are only present in 15% of cases). Precisely, at the Ruber International Hospital we have all the necessary studies to detect the disease, including imaging and laboratory studies that allow us to confirm, or exclude, the presence of other diseases.

“We still do not have a diagnostic laboratory or imaging test. However, we are beginning to know biomarkers that can help in the diagnosis, prognosis and very probably in monitoring the response to treatment, which can allow us to confirm early on whether the measures implemented are really changing the rhythm of the disease in the individual,” the doctor reports.

Regarding treatment, and although in Europe there is still no other drug approved for the treatment of ALS apart from Rilzol, Esteban Pérez explains that there are several ongoing phase III trials in the United States and Europe (including Spain), those aimed at confirming whether a treatment is definitively effective. “Unfortunately, we are not participating in any of them, but we are well aware of the types of trials that are underway and we can direct them to evaluate whether they could participate,” he says.