Development of a registry and a database for a nation-wide Italian collaborative network on congenital muscular dystrophy

Congenital muscular dystrophy (CMD) are an important cause for neuromuscular morbidity in childhood [Voit, 2007]. The CMDs are loosely defined as congenital or infantile onset muscle disorders in which the muscle biopsy suggests the presence of a dystrophic myopathy. In the past 10 years there has been increased awareness of these disorders because diagnostic possibilities and possible therapeutic strategies have noticeably improved a surge of interest in human CMDs. However in contrast to the extraordinary progress in our understanding on the pathogenesis and molecular bases of CMDs, our ability to treat these disorders is still extremely limited. Moreover, considering that CMDs are rare diseases, small patient number represents the major impediment to progress in research and care. This limitation can effectively be overcomed by harmonizing a nation-wide network to an international network for a patient register in combination with a natural history data base. We will establish an Italian network of clinical centers - mainly neurologists and neuropediatricians - with expertise on CMDs, and we will setup a web-based database which will contemplate also longitudinal studies. These steps we believe are crucial and necessary to better understand the natural history of the CMDs and, finally, to improve the management of these disorders.