Specific diagnosis of many genetic diseases is challenging. One area where greater difficulties are met is that of developmental disorders of the central nervous system, since many genes can be involved (van Loo & Martens, 2007) with many more to be discovered probably. In more broad terms, rare diseases (RD) are pathologies that affect less than 1 in 2000 people (Commission & -European Commission, 2020). Due to their low frequency, they present diverse difficulties, from the delay in the diagnosis to the lack of specific treatments. Most of them have a

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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.