Is it Pompe Disease? Exploring Australian cases (Part 1)

Pompe disease is a rare but treatable neuromuscular disease with a wide 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 illustrates the non-specific signs and symptoms that can delay diagnosis in a patient with limb-girdle weakness.

References:

Tchan M et al. Is it Pompe Disease? Australian diagnostic considerations. Neuromuscular Disorders 2020; 30: 389–99 Lin et al Lin CY, Hwang B, Hsiao KJ, Jin YR. Pompe's disease in Chinese and prenatal diagnosis by determination of alpha-glucosidase activity. J Inherit Metab Dis 1987;10:11–7 Kishnani PS et al, on behalf of the Pompe Registry Boards of Advisors. 2013. Timing of diagnosis of patients with Pompe disease: Data from the Pompe Registry. Am J Med Genet Part A 161A:2431–2443

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

Abbreviations: EMG, electromyography; CK, creatine kinase; LEMS, Lambert Eaton Myasthenic Syndrome

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 ABN 31 008 558 807. Talavera Corporate Centre, Building D, 12–24 Talavera Road, Macquarie Park, NSW 2113. MAT-AU-2002392. Prepared December 2022.