Development of the Italian National Registry for FSHD

Facioscapulohumeral muscular dystrophy (FSHD) is a common myopathy. The disease attacks peculiar muscles and patients are not able to close their eyes, blow their chicks, lift their arms and, eventually, may become wheelchair dependent. The disease has been associated to the reduction of a string of DNA elements, named D4Z4, that is located at the tip of chromosome 4 long arm. When the string of DNA is too short the disease appears. Molecular analysis allows counting the repeat number and is used for FSHD diagnosis. However, the disease can appear with different degree of severity and it is not clear how many individuals carrying the short string of DNA elements will develop the disease. Here we propose a study that analyze the Italian population of FSHD families with the intent of identifying factors that can influence the disease appearance. We expect this study will provide tools to predict the risk of developing a severe form of the disease. We also aim to identify factors that can help to prevent the disease worsening. This study will also consider patients showing FSHD clinical features without having the molecular defect with the aim of identifyig molecular markers useful for diagnosis. Finally, all clinical and molecular data will be collected in the National Registry of FSHD. The Registry will be available for distributing information to patients and clinicians and will be the basic frame of the FSHD netwok.