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Rare Diseases: Health Directorate Wants to Identify Spinal Muscular Atrophy

Rare Diseases: Health Directorate Wants to Identify Spinal Muscular Atrophy

Rare Diseases: Health Directorate Wants to Identify Spinal Muscular Atrophy

Homocystinuria, Cystic Fibrosis, Phenylketonuria… 13 diseases can be detected two to three days after birth with a few drops of blood taken from the heel. And the Health Authority (HAS) announced in a press release published this Wednesday that it wants to add another one. Spinal muscular atrophy (SMA) should indeed be included in the proposed and highly recommended neonatal screening of newborns.

Spinal muscular atrophy is a rare genetic disorder. It affects about 1 in 10,000 births in France each year, or several dozen newborns. And it remains very serious. The child can quickly develop difficulties with eating and breathing: the disease is characterized by irreversible neuromuscular degeneration. The Supreme Authority concludes that spinal muscular atrophy “can, in its most severe forms, lead to the death of a child under 2 years of age.”

The fact remains that “babies with SMA are asymptomatic at birth, and the first signs usually appear in the following weeks,” the HAS press release states. So, “screening for this disease from birth would allow treatment to begin as soon as possible to prevent or at least limit its progression,” she continues. These drug treatments have emerged in recent years, between 2017 and 2021.

The check has already been carried out

According to HAS, treatment “before the onset of symptoms will improve the health of patients (in particular, improving mobility, breathing and nutritional capacity), their quality of life and facilitating support from caregivers.” This is therefore what the Grand Est and Nouvelle-Aquitaine regions have already been trying since January 2023, with the support of the AFM-Téléthon association in particular.

Following the experiment in Nouvelle-Aquitaine and the diagnosis of the first child in the region, neurologist Caroline Espil of the University Hospital of Bordeaux stated that the newborn “benefited (from the treatment) at four weeks of life, even before the first symptoms appeared.” The specialist was pleased with this success, stating that it “will significantly and effectively change the course of the disease.”

HAS also recommends psychological support for families from a specialist familiar with the disease “as soon as the diagnosis is made, including for parents of children with a less severe or later form” – they are not eligible for drug treatment but should benefit from close medical supervision.

Source: Le Parisien

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