Neurológia pre prax 4/2018
Nationwide screening of Pompe disease in patients with unspecified muscle weakness, hyperCKemia, and respiratory insufficiency
Pompe disease (type II glycogenosis) is a rare autosomal recessive hereditary metabolic disorder. The course of the disease and the overall survival time can be influenced by enzyme replacement therapy. Neuromuscular Centers in Prague and in Brno are implementing a project aimed at detecting new Pompe disease cases and providing the newly diagnosed patients with dispensary care and substitution therapy.
Keywords: Pompe disease, type II glycogenosis, myopathy, hypotonia, enzyme replacement therapy
