Pompe disease in Uruguay. The first case in an adult genetically confirmed

Abstract

were selected because of the frequency and epidemiology of the region. Results: 18 patients were included, all with phenotype of LMGD. 2 patients had positive dry drop with genetic confirmation for Pompe disease. 2 patients had the gene mutation for dysferlin (LGM2B). 1 patient presented mutation to HNRPDL (LGMD1G). 1 patient presented to SGCA mutation of unknown significance. 12 patients had negative dry drop and were negative for mutations explored. Conclusion: This study allowed the first two cases diagnose as a treatable genetic myopathy as Pompe disease. The genetic panel for dystrophies above was used by a Uruguayan laboratory for the first time in the country.