Is it Pompe disease? Investigation and diagnosis (Part 2)
Hereditary Diseases Pod
English - October 18, 2020 21:53 - 22 minutes - 31 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 neuromuscular disease with a spectrum of symptoms and a challenging diagnosis. Join co-authors of the publication “Is it Pompe Disease? Australian Diagnostic Considerations”, Associate Professor Robert Henderson (Neurologist, Royal Brisbane and Women’s Hospital, Brisbane) and Associate Professor Andrew Kornberg (Paediatric Neurologist, Royal Children’s Hospital, Melbourne) as they explore the practical aspects of diagnosing Pompe disease, including the clinical assessment, differential diagnosis and testing.
References:
Tchan M et al. Is it Pompe Disease? Australian diagnostic considerations. Neuromuscul Disord 2020; 30: 389–99. O’Callaghan C et al. Adult-onset Pompe’s disease presenting with insidious hypercapnic respiratory failure Respirol Case Rep 2016; 4(5): e00178.The views and opinions expressed in the presentation are solely those of Associate Professor Kornberg and Associate Professor Henderson and should not be attributed to any organisation with which the presenter is employed or affiliated and are not necessarily the views of Sanofi Associate Professor Kornberg and Associate Professor Henderson 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-2200562. Date of Preparation March 2022. POM2200299