Spinal muscular atrophy: why neonatal screening can change the fate of children with this disease

spinal muscular atrophy (SMA) Motor neurons are a type of nerve cell in the spinal cord and lower brain that control movement of the arms, legs, face, chest, throat, and tongue.

As motor neurons die, muscles begin to weaken and atrophy, That is, they wear out. The muscle damage worsens over time and can affect speech, the ability to walk, swallow and even breathe, reports MedLine Plus, a publication of the US Library of Medicine.

Today, June 28, is International Neonatal Screening Day. SMA is a disease that manifests itself and is detected especially in the first years of life.

Mariel Centurion, head of Familias AME Argentina (FAME) explained Information that “although this is the first cause of genetic origin death in childhoodbeing a disease infrequently, many families are unaware of its existence until their child begins to show obvious signs muscle weakness, that is, when neuron death was already significant. The goal is to discover it before it has revealed itself”.

“Spinal muscular atrophy is a disease autosomal recessive. This means that it affects men and women equally and that in order to suffer from it, two copies of the gene are needed: one inherited from the father and one from the mother, says Stanford Medicine Children’s Health, part of Stanford University Medical Center.

And he adds: “It was discovered that a gene called survival motor neuron (SMNthe acronym in English) has an abnormal region (either due to a deletion or an extra copy of the gene) in more than 95 percent of cases of spinal muscular atrophy. “People with symptoms at any age can be assessed with DNA testing, which is usually done on blood samples.”

The US Centers for Public Health warned that “carriage testing in the general population is often difficult and is usually only available if the studies have been conducted on a previously affected child in the family.”

The Centurion, for his part, defined the disease as “destructive state” and stressed that his organization is fighting “tirelessly” to make this visible and raise awareness that early diagnosis is key. “We know that time to obtain a correct diagnosis is vital. Over the years, we have witnessed heartbreaking stories. Unfortunately, most patients go through an odyssey in search of a diagnosis diseases. Even “some died before they were diagnosed”.

The other side of the coin is “early diagnosis and timely treatment,” which creates stories of “hope,” he said. “We have seen children who, thanks to early intervention managed to achieve the set goals something their parents never thought possible.”

To illustrate the importance of diagnosis before symptoms appear, Centurion explained: “When it comes to SMA, every day that passes means there is neurons that were lost foreverWhen the disease manifests itself and parents observe the first symptoms, there are already lost neurons and they won’t be able to recover

. neonatal screening, “which consists of a series of tests performed shortly after birth to detect congenital diseases, offers a unique opportunity to change the course of that disease.”

In recent years they have been approved worldwide and also in Argentina. three procedures that alter the evolution of SMA through various mechanisms. “These therapeutic options have been shown to relieve signs and symptoms diseases and brake or delay their progression, especially if they are prescribed before the onset of symptoms” as part of the so-called pre-symptomatic treatment, he emphasized.

In Argentina, neonatal screening is legally required to be performed between 48 and 72 hours after the birth of a child for 6 pathologies, but SMA not included. This:

• Primary congenital hypothyroidism
• Phenylketonuria
• Congenital adrenal hyperplasia
• Cystic fibrosis
• Galactosemia
• Biotinidase deficiency

According to the Ministry of Health, “in the early stages, these pathologies are asymptomatic (no obvious clinical signs and symptoms), therefore, through screening, they can be identified at an early stage and promptly treated to prevent irreversible mental and/or physical disorders in the newborn. . The key in all cases is strength diagnose them on time treat them and improve the quality of life of children.”

Based on the same description, SMA could be included in a study that “would allow for the identification of affected children in the first weeks of life, when early intervention can make a significant difference. Experts agree that presymptomatic treatment radically changes the medical history and life of these children, ability to walk and have normal or very near normal development,” Centurion said.

“It will also have a positive economic impact,” he said. By promptly identifying and treating the disease, significantly reduce associated costs in long-term care of patients with SMA. Families should not be obliged cope with financial and emotional burdens alone “which implies a progressive and debilitating disease.”

“Introduction of neonatal screening for SMA It’s not an impossible dream This is an achievable reality. Countries like the US and some European countries have already taken this step, demonstrating that it is possible and effective. “Argentina has the capacity and resources to join these countries in the fight against this disease,” he said.

Including SMA in this newborn study will prevent children from suffering needlessly due to lack of early diagnosis. “We believe in the ability of our healthcare system to adapt and improve. We believe in a future full of hope and opportunity for all children with SMA. “Together we can achieve this,” he stressed.