Epidemiological assessments indicates that in south Italy the lat

Epidemiological assessments indicates that in south Italy the late-onset forms of Pompe disease are largely under-diagnosed. In fact, with an estimated frequency of one

in 56000 in Caucasian populations late-onset cases should be about 100 in the 6×103 inhabitants of the Campania, but after a recognition at all the Centers Inhibitors,research,lifescience,medical specialized for neuromuscular diseases of this region, in June 2011, at the time of the present Meeting, less than 10 genetically proofed patients result to be followed up. With these premises the team of neuromuscular disorders specialists at the Department of Neurology directed by professor Giuseppe Di Iorio, together with the team of Cardiomyology and Medical Genetics, directed by professor

Giovanni Nigro and professor Luisa Inhibitors,research,lifescience,medical Politano of the Second University of Naples, have organized the meeting “A network for Pompe disease treatment. Genetic Myopathy of children and adults” held in Naples, Italy, on June the 13th, 2011. Specific aims of the meeting were: to perform a comprehensive review from a multidisciplinary point of view on basic knowledge and new developments on clinic, diagnosis and management of Pompe disease; to discuss personal experiences with the management of Pompe disease between clinical trial experts in clinical and laboratory diagnosis, treatment, and Inhibitors,research,lifescience,medical management, including, cardiac, respiratory, gastrointestinal/nutritional, muscoloskeletal, neurological, supportive Inhibitors,research,lifescience,medical and rehabilitative care, anaesthesiology, general medicine, psychosocial, issues. The meeting addressed to University and Hospital doctors, practitioners and doctors in training in all branches potentially involved in diagnosis, therapy and management of Pompe patients had more than 100 registered participants. The Meeting

will benefit of the contributions Inhibitors,research,lifescience,medical of speakers of international scientific level, such as Corrado Angelini, from the University of Padua, who first described along with Engel AG, variable levels of α-GA in muscle and leukocytes of patients with Pompe disease, Antonio Toscano, from the University of Messina, Coordinator of the Italian Group for the Study of Glycogenosis, who will report on the Italian guidelines Farnesyltransferase and the activities of the Italian centers for the treatment of Pompe disease, Generoso Andria, from the University of Naples, Coordinator of the Reference Center for Rare Diseases of the Campania region, who first treated with alglucosidase alpha an Italian patient with classic infantile Pompe disease and will speake about the role of the pediatrician in the infantile form of Pompe disease. Furthermore, all important topics in clinics, diagnosis and treatment of Pompe disease, such as the therapeutic strategies alternatives to ERT, will be discussed by several experts from the universities and some hospitals of Naples and the Campania region.

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