‘Life-changing’ newborn test helps early diagnosis of genetic conditions

Testing newborns for spinal muscular atrophy could help children with the rare genetic muscle wasting condition.

The family of a boy with a rare genetic condition have welcomed government plans to introduce “life-changing” screening tests for newborn babies.

Nathanael Mitchell, six, was just 11 months old when he was diagnosed with spinal muscular atrophy (SMA), a rare genetic condition that causes progressive muscle wastage.

The Edinburgh youngster has SMA type 1, the most severe form of the disease.  

Although a range of treatments is now helping him to thrive, much of the damage had already been done by the time his condition was detected.

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