Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry)

BACKGROUND: International patient registries are of particular importance for rare disorders, as they may contribute to overcome the lack of knowledge derived from low number of patients and limited awareness of these diseases, and help to learn more about their geographical or population-based specificities, which is relevant for research purposes and for promoting better standards of care and diagnosis. Our objective was to create and implement a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC) and to disseminate the knowledge of these disorders. RESULTS: Teams from nine different countries (United Kingdom, Spain, Italy, France, Germany, Denmark, Greece, Turkey and USA) created a consortium that developed the first European registry dedicated to rare muscle glycogenoses. A work plan was implemented to design the database and platform that constitute the registry, by choosing clinical, genetics and molecular variables of interest, based on experience gained from previous national registries for similar metabolic disorders. Among dissemination activities, several teaching events were organized in different countries, especially those where the consortium considered the awareness of these diseases needs to be promoted among health professionals and patients. CONCLUSION: EUROMAC represents a step forward in the knowledge of those disorders to which it is dedicated, and will have relevant clinical outcomes at the diagnostic, epidemiological, clinical and research level

Eosinophilic myositis in calpainopathy: Could immunosuppression of the eosinophilic myositis alter the early natural course of the dystrophic disease?

PubMedID: 19285864An 11-year-old girl with a calpain-3 gene (CAPN-3) mutation and eosinophilic myositis on muscle biopsy had high serum CK levels and eosinophil counts which showed spontaneous fluctuations. After commencement of immunosuppressive therapy reciprocal changes occured in response to alterations in doses of the medications. Subacutely evolving and spreading muscle weakness developed during tapering of the immunosuppressive medications. These observations suggest that either the occurrence of eosinophilic myositis or the withdrawal of the immunosuppressive treatment may have accelerated the clinical course of the calpainopathy in this case. The positive effect of immunosuppressive therapy might have implications for the management of calpainopathy with an inflammatory component. © 2009 Elsevier B.V. All rights reserved