• Alberto Dubrovsky, Ernesto Fulgenzi, Eduardo L De Vito, Fabio Barroso, Andrés Berardo, Mariela Bettini, Daniela Binaghi, Esteban Calabrese, Daniel Carlés, Marcelo Chaves, Fernando Chloca, Eugenia Conti, José Corderi, Federico Di Gennaro, Nélida Ferradás, Agustín Jáuregui, Fabiana Lubieniecki, Claudio Mazia, Marta Medina, Laura Pirra, Juan Politei, Ricardo Reisin, Alberto L Rosa, Marcelo Rugiero, Valeria Salutto, Andrea Schenone, Mario Sussini, and Ana L Taratuto.
• Instituto de Neurociencias, Fundación Favaloro, Buenos Aires, Argentina.
• Medicina (B Aires). 2018 Jan 1; 78 Suppl 1: 1231-23.

AbstractPompe's disease (PD) is an infrequent metabolic autosomic recessive disorder produced by the lack or deficiency of the acid alpha-glucosidase lysosomal enzyme in tissues of involved individuals. Delayed-onset PD is considered whenever symptoms onset start after one year of age. We present an update of the recommendations for the management of delayed-onset PD, taking as reference the guidelines from the Argentine Consensus for diagnosis, treatment and follow-up of PD published in 2013. The present consensus gathered several experts in PD in the areas of internal medicine, laboratory diagnosis, neuropathology, pulmonology, nutrition, neurology, metabolic and neuromuscular disorders as well as rehabilitation to perform an update of the literature of delayed-onset PD, with special attention on relevant information published within the last 4 years. The entire working group approved the final version of the consensus. Each participant provided a declaration of conflict of interest. As a result, it is an update of the previous Argentine PD Consensus with focus on the delayed-onset presentation of the disease. Being such infrequent disorder, available data were rather limited and thus, the recommendations represent expert opinions.

13 keywords...

hide…