Diagnostic tools in late onset Pompe disease (LOPD)

Pompe disease is a rare metabolic disorder due to deficiency of the lysosomal acid alpha-glucosidase (GAA) that causes glycogen accumulation in all tissues with a predominant involvement of skeletal muscle. The late onset form of Pompe disease (LOPD) is characterized by a progressive weakness of proximal and axial muscles, often mimicking limb-girdle muscular dystrophies or inflammatory myopathies, with respiratory distress mainly due to a diaphragmatic weakness. Diagnostic delay is still common, and clinicians need a high index of suspicion to recognize this condition because the disorder is quite rare, the clinical spectrum is wide, and signs and symptoms are not distinguishable from those in other neuromuscular disorders that present in a similar fashion. Diagnostic laboratory tests are quite fast and reliable to detect the enzymatic deficiency. Enzyme replacement therapy has been available for several years, and other new therapeutic strategies such as gene therapy are underway. Here, we discuss the main diagnostic tools currently used for the evaluation of patients with suspected LOPD.