First clinical and genetic description of a family diagnosed with late-onset Pompe disease from Costa Rica.
- Gabriel Torrealba-Acosta,
- María Consuelo Rodríguez-Roblero,
- Sixto Bogantes-Ledezma,
- Kenneth Carazo-Céspedes,
- Claude Desnuelle
Neuromuscul Disord 2017 Jun 20. Epub 2017 Jun 20.
University Hospital of Nice, Cote d'Azur University, France.
Glycogen storage disease type II, also known as Pompe disease, is an autosomal recessive disorder caused by deficiency of enzymatic activity of acid alpha-glucosidase. The wide phenotypical variation of this disease relates to the amount of residual enzymatic activity depending on the combination of mutations on each allele. We confirmed Pompe disease in a patient that presented with progressive weakness, recurrent episodes of respiratory failure associated with pneumonia, a predominantly demyelinating mixed sensorimotor polyneuropathy and paraspinal complex repetitive discharges. Read More