Spinal muscular atrophy, SMA, is a group of rare genetic diseases that cause a breakdown of motor neurons, which in turn leads to muscle weakness and wasting. Now the National Board of Health and Welfare wants health and medical services to offer screening for spinal muscular atrophy in newborns through something called the PKU test. Authority recommend To adapt screening to screen for children who become seriously ill, as this would be cost-effective and ethically motivated, the National Board of Health and Welfare wrote. However, wider screening is not recommended, which could mean that children with milder forms of the disease are also found. The Authority does not consider it clear that the health benefits will outweigh the disadvantages of this examination.
The National Board of Health and Welfare estimates that seven children will be detected annually through the new screening programme. With screening, patients with the most severe form of SMA can receive treatment even before the first symptoms appear, which greatly increases the chances of survival and improves conditions for better motor development. In the past, most children with the most severe form of the disease died before the age of two.
Expert: The study provides further support for the examination of severe muscle diseases
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