Juan Francisco Vázquez

Juan Francisco Vázquez

Juan Francisco Vázquez
Cargo

Coordinator of the Motor Neuron Diseases Unit at the Neuromuscular Diseases and Ataxias Unit of La Fe Hospital, contracted Juan Rodés, member of CIBERER and associate lecturer at the University of Valencia

Reaction: Neonatal screening for spinal muscular atrophy improves children's walking ability at two years of age

Between 2018 and 2020, a pilot programme conducted neonatal genetic screening of children born in Australia for spinal muscular atrophy, allowing treatment to begin early. A study just published in The Lancet Child & Adolescent Health looks at their condition at two years of age and concludes that they had better movement ability, including the ability to walk, compared to children diagnosed once they develop symptoms. According to the authors, the findings justify further implementation of neonatal screening for the disease.

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