Muscular dystrophy screening should be NHS priority, says expert

The NHS must be prepared to screen every newborn baby for Duchenne muscular dystrophy (DMD) — the most severe form of muscular dystrophy — in three years time, says a leading UK geneticist who explains that promising treatments are close to becoming a reality.

Professor Dame Kay Davies from the University of Oxford believes an NHS screening programme is essential to identify babies that will benefit from new therapies, currently at advanced clinical trial stages, that could slow or even halt the disease’s progression.

'Anyone on these therapies is going to have to be treated more or less from birth to get maximum benefit', she said at The Times Cheltenham Science Festival. 'I'm not sure we’re quite there yet but we need to be ready to introduce a screening programme the moment that these treatments start to come through... that means piloting and planning now'.

DMD is caused by a genetic mutation that prevents production of the essential muscle protein dystrophin. The most advanced of the potential treatments in development uses an injectable drug to tell the body not to read the mutated part of the gene. Another attempts to stimulate a second muscle protein called utrophin, thereby compensating for the absence of dystrophin.

Furthermore, the condition is almost exclusively seen in boys since the mutation occurs on the X chromosome, and the second X chromosome possessed by girls makes up for the faulty copy.

While the UK does not currently operate screening for DMD as part of the heel-prick test done at birth, Wales has run a DMD screening programme for the last 21 years.

'The experience from Wales is that some families find the screening very helpful, while others say it robbed them of important time when they didn’t know their children were affected', said Dr Marita Pohlschmidt, director of research at the Muscular Dystrophy Campaign.

'Once a treatment is available, however, it's essential that screening is implemented straightaway, and as it will take some time to develop a programme we need to start working on getting it right now', she said.