Speciality-specific diagnostic algorithm for late-onset Pompe disease in children and adults

Pompe disease is a rare metabolic autosomal recessive disorder characterized by accumulation of glycogen in multiple organs, specifically in the skeletal and respiratory muscles, due to deficiency in the lysosomal enzyme acid alpha-glucosidase (GAA). Late-onset Pompe disease (LOPD) can manifest from early childhood to late adulthood. The signs and symptoms of LOPD include slowly progressive limb-girdle muscle weakness and respiratory failure caused by diaphragm and expiratory muscles involvement. Broad spectrum of manifestations that mimic symptoms of other diseases, slow progression and variable age at presentation hinder initial diagnosis and cause diagnostic delays. The article presents the specialty-specific diagnostic referral algorithm for LOPD that was developed during expert group committee meeting.

Key words

Late-onset Pompe disease, muscular weakness, respiratory failure, dianosis.