Neurológia pre prax 1/2024

Man who was unable to dive – typical course of Pompe's disease with late onset

Pompe disease (PD, glycogenosis type II) is a rare genetically determined metabolic disease characterized by alpha-1,4-glucosidase (GAA, acid maltase) deficiency. Disease manifestations and life expectancy can be influenced by enzyme replacement therapy (ERT). Neuromuscular centers in Prague and Brno are implementing a project aimed at detecting previously unknown cases of Pompe disease and providing dispensary care and substitution therapy to the newly diagnosed patients. The article demonstrates the typical course of the late form of Pompe disease by means of the case report of a patient found thanks to the project.

Keywords: Pompe disease, glycogenosis II. type, respiratory insufficiency, sleep breathing disorder, orthopnea