Rare spinal condition added to newborn blood screening test
'We have lived the reality of both late and early diagnosis. The difference is life-changing.' Liz McMahon's sons, Luke (8) and Sean (6) both have spinal muscular atrophy (SMA). File picture
A family affected by the rare disease spinal muscular atrophy (SMA) has welcomed expansion of the heel prick test for newborns to include the condition, with the first babies already tested.
It means that ālife-changingā early treatment can be given to any child born with SMA. This is a rare genetic condition causing severe muscle degeneration and can cause death by the age of two.
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