Newborn muscular dystrophy test supported by MPs

MPs are currently pushing for tests to be given to newborn boys for duchenne muscular dystrophy (DMD), which affects one in every 3,500 male infants. The muscle wasting disease often sees sufferers die before the age of 30 due to the way it affects the muscles that are needed to pump blood around the body and breathe.

Although a test already exists, it is not used to check babies in the UK, as critics claim the current method is too unreliable and, as there is no effective treatment, screening for the condition is inappropriate.

Currently, doctors have to rely on family history and the presented symptoms to diagnose a patient. This means the average age for diagnosis is five, by which time a child can already have lost 30 to 40 per cent of their muscle mass, often resulting in them being in a wheelchair by the time they are ten.

Although doctors use blood, nerve and muscle tests, and muscle biopsies to diagnose a patient, it can also be detected with a simple blood test, reports the BBC.

An inquiry into testing, led by the All Party Parliamentary Group for Muscular Dystrophy, has caused MPs to say that, although it still needs fine tuning, the current model is too prohibitive and prevents newborn screening for the disease.

However, the group wants a newborn to present symptoms at birth for the test to be carried out or even considered. This could be difficult as many sufferers don't have symptoms until later in childhood.

Although the criteria stated there "should be an effective treatment for patients identified through early detection", the group argued that families with children who have DMD would want a test even without a treatment.

This extra time would allow families to find appropriate schools and prepare themselves for caring for a child with a serious medical condition.

Treatments are currently being tested, according to the BBC, which could be made available in the US from 2015.