CLINICAL, NEURORADIOLOGICAL AND HISTOCHEMICAL STUDY OF CONGENITAL MUSCULAR DYSTROPHY WITH MENTAL RETARDATION

The aim of this project is to evaluate the spectrum of clinical, neuroradiological and hystopathological features in patients with congenital muscular dystrophy and mental retardation. This work is important as although there has been a dramatic increase in our knowledge of the genetic causes and of the mechanisms of many newly recognised forms of CMD and mental retardation, many of these cases have not been yet fully characterised and the prevalence and the spectrum of these forms is not completely understood. As these are relatively rare conditions, the study will include several centers who will all contribute with a variable number of cases. This will allow not only to evaluate the spectrum of the genetically known forms but also to identify subgroups of patients with similar features which may help to identify new CMD entities.