Autophagic myopathies / myofibrillar myopathies / distal myopathies / pompe disease

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.

Source: Neuromuscular Disorders - September 28, 2020 Category: Neurology Authors: Y. Saito, K. Nakamura, T. Fukuda, H. Sugie, S. Hayashi, S. Noguchi, I. Nishino Source Type: research