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Experts advise against screening for Duchenne Muscular Dystrophy

They say current test incorrectly identifies some babies and misses others

Mark Gould

Monday, 28 November 2016

Newborn babies should not be screened for the muscle wasting condition Duchenne Muscular Dystrophy, as the current test for the condition incorrectly identifies some babies as having the condition and misses others who go on to develop the disease.

Duchenne is an inherited condition which causes muscles to weaken. This gets worse over time and leads to increasing levels of disability. It is caused by faults in the genes responsible for muscle development and mainly affects boys. The symptoms may be noticed when a child has difficulty standing up, climbing or running. Between 100 to 200 boys with the condition are born in the UK each year.

Dr Anne Mackie, Director of Programmes for the UK National Screening Committee says the current test "is simply not reliable enough".

"Babies would be identified as having the condition when they don’t and the test also misses babies who go on to develop the disease," Dr Mackie said.

The minutes of the screening committee's meeting of October 16 were published today and also recommended against screening for haemochromatosis for adults. This is an inherited condition where iron levels in the body slowly build up over many years. This build-up of iron can cause unpleasant symptoms and can damage parts of the body such as the liver, joints, pancreas and heart.

Haemochromatosis is caused by a genetic fault. However, not everyone with the genetic fault experiences ill health. This means that screening would find people who would never have a problem, causing unnecessary worry and anxiety.

The two recommendations will now be considered by ministers. As part of a regular review process these recommendations will be looked at again in three years – or earlier if significant new evidence becomes available.

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