Pompe disease is a rare, autosomal recessive disorder caused by deficiency of the glycogen-degrading lysosomal enzyme acid α-glucosidase. There are two forms of the disease: infantile-onset Pompe disease (patients aged <1 year with cardiomyopathy) and late-onset Pompe disease (LOPD; patients aged >1 year through to adulthood or <1 year without cardiomyopathy). This review will focus on LOPD, a multisystem condition with a heterogeneous clinical presentation that mimics a number of other neuromuscular disorders.
Independent commentary has been provided by Dr Robert Henderson.
Please login below to download this issue (PDF)