Muscular dystrophy and related conditions cause muscles to waste and weaken. More than 70,000 people in the UK are affected

McArdle disease

McArdle disease is a metabolic muscle disorder first described in 1951 by Dr Brian McArdle. The disorder is also called Glycogen Storage Disease Type V (GSD V). People born with McArdle disease are unable to produce an enzyme called muscle phosphorylase. This enzyme is important in producing the fuel source required by the skeletal muscles for exercise.

The Muscular Dystrophy Campaign provides advice and support for individuals living with McArdle disease and their families, and for health professionals.  We lead the search for treatments and cures for muscle-wasting conditions.

In this section you'll find the latest information about McArdle disease and helpful resources.

The Muscular Dystrophy Campaign supports individuals and families by:

  • funding McArdle disease research projects and providing information on research progress
  • supporting the training and development of the next generation of scientists and funding clinical trials co-ordinators in the drive towards potential treatments for muscle-wasting conditions
  • working with, and providing training and education for, NHS-funded care advisors
  • taking a leading role in driving NHS support for neuromuscular networks and spearheading campaigns to improve access and quality of specialist care
  • offering advice and information and enabling people to overcome difficulties through our advocacy service
  • providing grants towards specialist equipment to help people to live as independently as possible
  • helping people to connect with each other through our local Muscle Groups, online via TalkMD, at conferences and events; and through Trailblazers, our national network of young disabled people.

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There is a role for everyone in the fight against muscle-wasting conditions.  We are a small but strong community of people in the UK and we are determined to win this fight, together.

There are opportunities to get involved in a variety of ways, such as:

McArdle disease Appeal

We are supporting an exciting clinical trial into a possible treatment for McArdle disease to start in September 2013, led by Professor Ros Quinlivan at University College London.  We are fundraising to cover part costs of this two-year project in the UK.  Of our total commitment of £94,406 over two years, we have launched a fundraising appeal to raise the remaining £44,740 to conclude the trial (all other funding related to the study in place).

Please read more or make a donation.

Support and Information

We are here for you and your family.  For more information about McArdle disease or for support, contact our freephone support line or send us an email (Monday to Friday 8.30am - 6pm): 0800 652 6352 (freephone)


The Association for Glycogen Storage Disease UK also provides information, support, and a regular newsletter.

Beating muscle-wasting conditions such as McArdle disease is a massive challenge requiring a collective effort, but with advances made in research over the last 20 years there has never been a better time to join us. Together, we can win the fight.

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