P.1.11 Development of a registry and a database for a nation-wide Italian collaborative network on congenital muscular dystrophy

Abstract

Congenital muscular dystrophies (CMD) are rare diseases and small patient number represents the major impediment to progress in research and care. Classically the term CMD includes a group of genetically, clinically and biochemically distinct entities sharing clinical and pathological features such as early presentation of weakness and hypotonia and dystrophic features on muscle biopsy. In the last years the identification of several new genes responsible for different forms of CMD has not only expanded the spectrum of the known forms of CMD (to date over 20 genes responsible for CMD forms have been identified) but has produced exciting progresses in the understanding of the mechanisms underlying this group of disorders. However the real incidence and prevalence of CMD in populations is not sufficiently known. The aim of this Project is to establish the prevalence of CMD in Italy by harmonizing a nation-wide network including all the tertiary care centers. The possibility to join an international database will also provide the opportunity to make the data available for larger international studies and to contribute to a better understanding of the prevalence of CMD in the different countries. Preliminary results show 302 cases of CMD in Italy subdivided into: 47% dystroglycanopathies, 25% laminin alpha2 deficient CMD, 14% collagen VI deficient CMD, 6% mutations in SEPN1, 4% laminopathies, 4% others. All the patients with dystroglycanopathies and CMD phenotype have been screened for the first 6 known genes and they are being screened for the recently recognized new genes. As the study includes all the Italian tertiary care centers for pediatric neuromuscular disorders, we can presume that our findings will provide an estimate of at least all the cases of CMD.