Pompe disease is a rare but treatable neuromuscular disease with a spectrum of symptoms and a challenging diagnosis. Join Professor Merrilee Needham (Neurologist, Fiona Stanley Hospital & Perron Institute, Perth), co-author of the publication “Is it Pompe Disease? Australian Diagnostic Considerations”, as she explores Pompe disease red flags and diagnostic challenges using Australian case studies. This episode follows the diagnostic path of a patient with respiratory involvement.

References:

1. Tchan M et al. Is it Pompe Disease? Australian diagnostic considerations. Neuromuscular Disorders 2020; 30: 389–99.

1. Schuller A et al. American Journal Medical Genetics Clinical Seminars Medical Genetics 2012;160C:80–8

1. Ausems MG et al. A diagnostic protocol for adult-onset glycogen storage disease type II. Neurology. 1999;52:851–3

For more information about testing for Pompe disease, please visit bit.ly/pompe-diag-test.

Abbreviations: EMG, electromyography; CK, creatine kinase

The views and opinions expressed in the presentation are solely those of Professor Merrilee Needham and should not be attributed to any organisation with which the presenter is employed or affiliated and are not necessarily the views of Sanofi. Professor Needham received honoraria from Sanofi.

sanofi-aventis australia pty ltd trading as Sanofi Genzyme ABN 31 008 558 807. Talavera Corporate Centre, Building D, 12–24 Talavera Road, Macquarie Park, NSW 2113. MAT-AU-2002398. Prepared December 2022. .