Is it Pompe Disease? Australian Diagnostic Considerations

Pompe Disease is a spectrum disorder with an evolving phenotype in which diagnostic delay is common. Contributing factors include the rarity of the disorder, its wide clinical spectrum, signs and symptoms that overlap with those of other neuromuscular disorders, variable diagnostic approaches, lack of awareness of the clinical manifestations and difficulties in completing the diagnostic inventory. International updates and recommendations have been published providing diagnostic guidelines and management criteria.

Source: Neuromuscular Disorders - April 15, 2020 Category: Neurology Authors: Michel Tchan, Robert Henderson, Andrew Kornberg, Kristina Kairaitis, Maria Fuller, Mark Davis, Carolyn Ellaway, Katrina Reardon, Alastair Corbett, Merrilee Needham, Penny McKelvie Source Type: research