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Osakidetza first detected spinal muscle atrophy through heel testing

Thanks to the early diagnosis of this rare neuromuscular disease, the baby has already been referred to Neuropediatrics at Donostia University Hospital, it is receiving gene therapy and its initial development is good. The neonatal screening programme, known as the heel test, makes it possible to detect 24 diseases.

Prueba del talón, cribado a recién nacidos
A professional from Osakidetza holds a baby in his arms. Photo: Open

EITB

Updated

Osakidetzahas detected the first case of spinal muscle atrophy (AME) through the neonatal observation program, known as the heel test . The Department of Health has stressed that this early diagnosis has enabled the immediate activation of specialized care , opening up a real possibility for the baby to receive treatment and survive with quality of life.

This first case was presented this Friday at the Donostia University Hospital, attended by institutional representatives, health professionals and specialists from Osakidetza who participated in the process, as well as two people with spinal muscle atrophy. 

AME is a rare neuromuscular disease that originates in genes and causes muscle strength to gradually lose and weaken. In the most serious cases, it can also hinder breathing, swallowing and motor capacity from the first months after birth; if not treated in time, it can have very severe consequences.

On the very day of the diagnosis, the baby was referred to the Neuropediatrics Unit at Donostia University Hospital. Tests showed that the baby does not have the main gene that causes the disease, but does have three copies of a reserve gene that would lead to a lighter level of disease. This information has been key to making therapeutic decisions about the most appropriate treatment as soon as possible. 

At AME, every hour is important.

This being the case, the baby is already receiving gene therapy and its initial evolution is good. Specialists in neonatology and neuropediatrics in Osakidetza have explained at a press conference that in a disease like AME, every hour is important: "Detecting the problem before obvious symptoms begin to appear can completely change the prognosis and allow you to live longer, with fewer consequences and better motor development," they said.
 
The Health Counselor, Alberto Martinez, has stressed that "we often believe that the heel test is a simple routine gesture, but today it has become apparent that behind that gesture of a few seconds there may be something very valuable: the possibility of a change of life  and a different future for a child, quite rightly".
 
The counselor recalled that when the Department of Health started the legislature there were 17 diseases that were detected. "Today there are already 24, soon there will be 37, and we intend to continue to do so so so that scientific progress does not reach families later than necessary," he said.
 
As explained by the Deputy Director of the Public Health Laboratory, Jon Iñaki Alvarez, the neonatal observation programme is of a universal nature and is carried out on each and every one of the newborns, both in public and private centres, as well as on those born on the way to the hospital. From 2025to 13,536 babies were tested, 210,918 analytical determinations were obtained, which made it possible to detect that 24 babies needed clinical treatment.
Osakidetza. Diseases Donostia Hospital. Society

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