Scotland’s first baby identified through the country’s spinal muscular atrophy screening programme has started treatment, allowing clinicians to intervene before symptoms of the inherited condition develop.
Spinal muscular atrophy (SMA) is a rare genetic disorder that causes progressive muscle weakness and can affect a child’s ability to move, swallow and breathe. In its most severe form, it can be life-threatening during infancy.
The screening programme tests newborns for the genetic changes linked to SMA, including babies who may appear healthy at birth. Early diagnosis is important because treatment is most effective when given before significant nerve and muscle damage occurs.
The baby is the first to be identified since the screening programme was introduced across Scotland. Treatment has now begun under the care of specialist NHS teams.
Health professionals say newborn screening provides an opportunity to identify SMA at its earliest stage and start treatment promptly, rather than waiting for symptoms to appear.
