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.
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.
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