EUROMAC is an EU funded project to build a registry of people across Europe who are diagnosed with a rare muscle condition known as McArdle Disease. It also covers related muscle conditions that are even more rare.These include Glycogenosis Types 0, IV, VII, IX, X, XIII; Phosphoglycerate Kinase 1 Deficiency; Muscle Lactate Dehydrogenase Decifiency.

The reason for creating EUROMAC comes from the international demand for cooperation on Rare Diseases, which lead the European Commission and the US National Institute of Health to create in 2010 the International Rare Diseases Research Consortium (IRDiRC), with the mission of pursuing better diagnosis and treatment of Rare Diseases through the set up and maintenance of patient registries.

Stemming from the experience gained in Spain by collecting data into a national registry of over 200 McArdle patients, EUROMAC addresses this mission and its expected impact by joining 15 partners from 7 EU countries, Turkey and the US. We have divided our work across 8 different working groups, dealing respectively with:

A throrough training and dissemination campaign aimed at spreading the knowledge on McArdle and other forms of rare muscular glycogenoses, lead by the Association for Glycogen Storage Diseases and University College London. Check out or news an events sections for future initiatives about McArdle targeted at both patients and health professionals;

Project management and coordination, aimed at ensuring that EUROMAC runs smoothly as a whole throughout its 3 ½ years, done in Barcelona by the Vall D’Hebron Research Institute.

Childhood

Children and their parents are typically aware of symptoms from age about 5, but the average delay before diagnosis achieved is about 20 to 25 years. Children get labeled as lazy, unfit, malingerers, etc, and they frequently have a hard time at school. It often takes a severe episode resulting in hospitalization with rhabdomyolysis (muscle breakdown) before the problems are fully investigated and a diagnosis achieved.

Diagnosis

If there is pain on activity, which resolves quickly if the activity is paused on the onset of symptoms, and if a blood test reveals a raised level of Creatine Kinase, then this is highly suggestive of McArdle Disease. Many cases can now be diagnosed by DNA analysis. About 150 different mutations of the PYGM gene on chromosome 11 have been identified so far. A small number of these are very common. If necessary, a muscle biopsy is conducted, as it can reveal the lack of the enzyme and usually an excess of glycogen.
Early diagnosis is a great help in that people can then learn to manage their condition and make suitable choices about lifestyle, employment and activity levels.

Treatment

There is no cure for McArdle Disease and to date no drug treatment. Improving aerobic fitness through regular gentle exercise is generally accepted as the most appropriate treatment. Diet is still controversial, with some people doing better on a higher than normal amount of carbohydrate in their diet whilst others report being better on a higher amount of protein. A sugary drink before planned activity may be helpful, but this must be limited in use due to the risks of weight gain and diabetes. It is hoped that research will lead to improved treatments becoming available in the future. There are a number of interesting lines of investigation.

Management

At present the, best approach is to:
Learn how to adapt activity to reduce risks;
Get to know the signals from the muscles telling you when to slow down or pause what you are doing;
Increase aerobic fitness;
Avoid becoming overweight.
People with McArdle Disease can be assisted by medical professionals such as neuromuscular consultants, physiotherapists, dieticians and psychologists. They can also gain from contact with other people with the condition and with support groups.

EUROMAC hopes to recruit into the registry all those in Europe who are diagnosed with McArdle Disease and a number of even more rare related conditions. It will be seeking cooperation from medical professionals and patients to facilitate this. To be included, it is essential that the diagnosis is supported by DNA analysis.By being included in the registry, patients will be contributing to the well being of future generations of people with McArdle’s. Key aims being early diagnosis, high quality advice and management, and eventually an effective treatment or even a cure.

Improve access of patients to specialized care

Facilitate the involvement of local governments and regulatory agencies

Improve knowledge of the natural history of McArdle Disease and other rare neuromuscular glycogenoses

Reduce the potential of delayed diagnosis and incorrect advice leading to debilitating symptoms and increased risk of life-threatening crises necessitating admission to critical care.