Is it Pompe Disease? Exploring Australian cases (Part 2)
Hereditary Diseases Pod
English - February 17, 2021 00:52 - 7 minutes - 6.78 MBMedicine Health & Fitness Science Life Sciences australia disease hereditary acroparesthesias andrewkornberg anhidrosis associate carolynellaway clinical cornealverticillate Homepage Download Google Podcasts Overcast Castro Pocket Casts RSS feed
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 work-up of a patient with chronic elevated creatine kinase (hyperCKaemia).
References:
Tchan M et al. Neuromuscular Disorders 2020; 30: 389–99 Lukacs Z et al. Neurology 2016; 87:295–8 Ausems MG et al. A diagnostic protocol for adult-onset glycogen storage disease type II. Neurology. 1999;52:851–3For more information about testing for Pompe disease, please visit bit.ly/pompe-diag-test.
Abbreviations: EMG, electromyography; CK, creatine kinase; MLPA, multiplex ligation dependent probe amplification
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-2002396. Prepared December 2022.