AUTOPHAGIC MYOPATHIES / MYOFIBRILLAR MYOPATHIES / DISTAL MYOPATHIES / POMPE DISEASE: P.17 Screening for Pompe disease using muscle section in Japan

Abstract

Pompe disease (PD) is an autosomal recessive glycogen storage disease due to deficiency of acid alpha-glucosidase (GAA). As enzyme replacement therapy is available, any patient should not be overlooked. However, late-onset PD (LOPD) cases can often clinically show nonspecific limb-girdle phenotype and sometimes pathologically lack pathognomonic vacuolar changes. Although we have reported acid-phosphatase-positive globular inclusion in myofibers as a diagnostic marker, still PD cases may be overlooked on routine muscle pathology diagnosis as the inclusion may not always be obvious.