Italian method reveals genetic origin of dystrophy

(AGI) Naples - June 20 - Usually half of dystrophies are "mysterious" with no traceable genetic defect causing them. Now a new Italian study has developed a method that can diagnose dystrophy and also reveal the cause. This new method, described in the journal Neurology, has been developed and coordinated by Vincenzo Nigro, Professor of Medical Genetics of the Second University of Naples and a researcher at the Telethon Institute of Genetics and Medicine (TIGEM). The study involved 504 patients with undiagnosed muscle diseases and at least 40 clinics, from all the Italian centres gathered in two networks with French and Belgian experts. Using "next generation sequencing" technology, 43.3 percent received a definitive answer - finding the mutation underlying the disease - and 31.7 percent a partial diagnosis. Nigro said: "This at the moment is the largest study ever published in the world, and suggests that this type of analysis should be the first test for the diagnosis of these diseases, while now patients receive invasive investigations that in half of the cases yield no result. We have taken these undiagnosed cases and in most cases were able to trace the cause. Besides, those few that remain are in the mild disease range, in which the genetic component may play a minor role." If you add up all neuromuscular disorders, according to Nigro, they total one person in 1000 of the Italian population. "Knowing the gene responsible is very important, in some cases even allowing us to start treatment, while others may allow patients to join a clinical trial. It is also important for the family to know who is the carrier of a mutation and so take genetic counselling." (AGI). .