Journal article

Is it Pompe Disease? Australian diagnostic considerations

Michel Tchan, Robert Henderson, Andrew Kornberg, Kristina Kairaitis, Maria Fuller, Mark Davis, Carolyn Ellaway, Katrina Reardon, Alastair Corbett, Merrilee Needham, Penny McKelvie

Neuromuscular Disorders | PERGAMON-ELSEVIER SCIENCE LTD | Published : 2020


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. However, questions remain in the Australian setting. A panel (two neurologists, one clinical geneticist) reviewed the literature, examined clinical questions of relevance to the Au..

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Funding Acknowledgements

Editorial assistance in the preparation of this manuscript was provided by Hazel Palmer MSc, ISMPP CMPPTM of Scriptix Pty Ltd and funded by SanofiGenzyme Australia. The authors were responsible for all content, interpretation of the data and the decision to publish the results; they received no honoraria related to the development of this manuscript.