Building a Nation-wide Italian collaborative network for muscle glycogenoses: registry and natural history

The terms "muscle glycogenoses" or muscle glycogen storage diseases (MGDS) indicate a group of diseases due to defects of glycogen metabolism with impaired energy production and dysfunction of different tissues, mainly skeletal muscle and heart. Despite of the recent striking progresses in the understanding of the biochemical and molecular bases of the MGDS, therapeutic options are still very limited apart from specific types of MGDS as GSD II where enzyme replacement therapy is available since 2006. However, other therapeutic strategies are still developing in different MGSD pathologies. For rare diseases, small groups of patients represent the major limit to progress in research and management. This limitation might be overcome by a patient register which will help to better understand the clinical patterns and the natural history of those pathologies. We would like to establish an Italian network of clinical Centers where neurologists and pediatric neurologists with expertise in MGDS could setup a web-based database which will contemplate also longitudinal studies. These steps are necessary to better understand the natural history of the MG and, finally, to improve the management and treatment of these disorders.