Pompe’s Disease in Siblings Taking Enzyme Replacement Therapy: Skeletal Muscle Magnetic Resonance Imaging Findings

Abstract

Pompe’s disease is a rare inherited muscle disorder resulting from deficiency of lysosomal acid α-glucosidase. This report describes the muscle magnetic resonance imaging findings in two young adults with late-onset Pompe’s disease. A specific pattern of muscle involvement has been described in multiple inherited muscle disorders, including Pompe’s disease. With the advent of enzyme replacement therapy, increased utilisation of imaging for diagnosis, monitoring of disease progress, and treatment response are expected. This article emphasises the importance of magnetic resonance imaging in screening the skeletal muscle in this disease and describes the development of new imaging techniques.