Adults in the UK with Duchenne muscular dystrophy are being failed on critical medical checks that could lengthen their lives, according to research published by Newcastle University.

A study across seven EU countries found that despite investing in specialist care for children with Duchenne muscular dystrophy, the NHS is failing to meet internationally agreed standards on life-extending care for many adults with the condition, including vital annual heart and lung checks. The research found the UK trailing behind in measures to prevent chest infections and heart problems, two of the most common causes of death in people with Duchenne muscular dystrophy, whose average life-expectancy is still in the mid-twenties in the UK.
 
Duchenne muscular dystrophy is a life-limiting muscle-wasting condition caused by genetic mutations which result in a lack of the vital muscle protein, dystrophin. It affects around 2,500 children, young people and adults in the UK – almost all of them male – and causes muscles to weaken and waste, leading to increasing disability and life-threatening heart and lung problems. Specialist healthcare can dramatically improve the length and quality of life for those affected.
 
The study by CARE-NMD, was led in the UK by clinicians from the John Walton Muscular Dystrophy Research Centre, a specialist centre for muscle-wasting conditions at Newcastle University. Responses were received from more than 1,000 people, including 201 adults, across the UK, Denmark, Germany, Bulgaria, Czech Republic, Hungary, Poland– making it the largest ever survey of care among adults with Duchenne muscular dystrophy. 

The survey findings revealed that:

• 20 percent of UK adults with Duchenne muscular dystrophy are missing out on both annual heart and annual lung checks
• More than 40 percent are missing out on either having their heart or lungs checked each year
• Over a fifth of adults in the UK do not attend specialist care centres at all – the worst record amongst the Western European countries surveyed 
• People in the UK were the least likely to receive professional physiotherapy in any participating country
• They were also the least likely to be participating in education or employment or living independently than those in other Western European countries in the study

Experts in the UK say that the findings highlight the need for a co-ordinated transition of care from childhood into adulthood. Newcastle University’s Professor Hanns Lochmüller (pictured), who led the research, said:
“Care for adults with Duchenne muscular dystrophy compares poorly to that which is offered to children, being less organised and far scarcer. Yet the needs of those with the condition simply increase with age. A person might receive excellent care throughout childhood and reach their teenage years in relatively good health, only to lose out on life-preserving care just as the damage to vital muscles begins to manifest itself. We are also, sadly, failing to respond to the increasing opportunity for young men with this condition to lead fuller lives, fairing poorly in supporting them to follow social and professional aspirations.

“We need to see better investment in healthcare services for adults and a co-ordinated approach to allow specialist teams here in the UK to train and support colleagues, ensuring first-rate care does not remain largely a matter of geography.”

The Muscular Dystrophy Campaign (MDC) and charities Action Duchenne and DMD Pathfinders, which supported the research, are calling for urgent efforts to better fund and coordinate expert care for adults with the condition. The MDC says that increased NHS support for the few specialist centres in the UK could help them to link up with wider hospital services and clinics, helping to save lives. View the press release on the MDC website.

Source information: ‘Adult care for Duchenne muscular dystrophy in the UK’, Sunil Rodger et al, Journal of Neurology. View the article here

published on: 22 January 2015