Nationwide screening of Pompe disease in patients with unspecified muscle weakness, hyperCKemia, and respiratory insufficiency

Abstract

Pompe disease (type II glycogenosis) is a rare autosomal recessive hereditary metabolic disorder. The course of the disease andthe overall survival time can be influenced by enzyme replacement therapy.

Neuromuscular Centers in Prague and in Brno areimplementing a project aimed at detecting new Pompe disease cases and providing the newly diagnosed patients with dispensarycare and substitution therapy.

Keywords

• Pompe disease
• type II glycogenosis
• myopathy
• hypotonia
• enzyme replacement therapy