Evaluation prevalence of Pompe disease in Iranian patients with myopathies of unknown etiology.

Background: Pompe disease is a rare but potentially treatable metabolic disorder having an estimated worldwide incidence of one in forty thousand live births. While the introduction of enzyme replacement therapy (ERT) has considerably increased the awareness of the disease, the delay in diagnosis is still consistent and most patients go undetected.

Objective: This study aimed to determine the prevalence of late-onset Pompe disease (LOPD) in a high-risk population, using dried blood spot (DBS) as a main screening tool.