Screening for spinal muscular atrophy is a step forward, says Dr Janet Hoskin, but what about other serious genetic conditions such as Duchenne muscular dystrophy?
The decision to introduce newborn screening for spinal muscular atrophy (SMA) is a major breakthrough for families and campaigners (All newborns in England to be screened for spinal muscular atrophy from 2027, 16 July). Early diagnosis means children can access treatment sooner, improving outcomes and giving families clarity at a crucial time.
However, this success raises an important question: why are other serious genetic conditions, such as Duchenne muscular dystrophy (DMD), still excluded from newborn screening programmes? About 100 boys are born with DMD each year. It causes progressive muscle weakness and is often diagnosed only after years of uncertainty. Although new treatments such as Givinostat are beginning to offer hope for some young people, early diagnosis remains vital. It can help families access information, specialist care and support much sooner, and may allow more children to benefit from emerging treatments.
Continue reading...
