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By Sanofi Genzyme
The podcast currently has 11 episodes available.
The diagnostic challenge of muscular dystrophies and neuromuscular disorders in children often stems from the broad, nondescript nature of presenting symptoms. Join Associate Professor Andrew Kornberg, Senior Paediatric Neurologist at the Royal Children’s Hospital in Melbourne, as he explores the role of genetic testing in the diagnosis and management of hereditary muscular dystrophies and neuromuscular disorders in children, using real-world case studies.
Abbreviations: NMD, neuromuscular disorder.
The views and opinions expressed in the presentation are solely those of Associate Professor Andrew Kornberg 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 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-2202522. Date of preparation: August 2022. 2200561.
Inherited cardiac disorders often pose a considerable diagnostic challenge due to their broad clinical diversity and genetic heterogeneity. Join Professor Chris Semsarian AM, Genetic Cardiologist at the Royal Prince Alfred Hospital in Sydney, as he illustrates the merits of genetic testing in clinical cardiology practice.
The views and opinions expressed in the presentation are solely those of Professor Semsarian AM 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 Semsarian AM did not receive 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-2202522 Date of preparation: August 2022. 2200561.
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:
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. .
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:
For 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.
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:
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.
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 present two case studies from their practice and discuss the management of Pompe disease.
Reference:
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 Genzyme. Associate Professor Kornberg and Associate Professor Henderson received honoraria from Sanofi Genzyme.
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-2000610. POM0016. Prepared August 2020.
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:
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
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 review the early signs and symptoms of Pompe disease and how they can be investigated.
References:
1. Tchan M et al. Is it Pompe Disease? Australian diagnostic considerations. Neuromuscul Disord 2020; 30: 389–99.
2. Kishnani PS et al. A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease. J Pediatr 2006; 148(5): 671–6.
3. Hirschhorn R and Reuser AJ. Glycogen storage disease type II: acid alpha-glucosidase (acid maltase) deficiency. In: Scriver C, Beaudet A, Sly W, Valle D, eds. The metabolic and molecular bases of inherited disease. 8th ed. New York: McGraw-Hill, 2001; 3389–420.
4. Gutierrez-Rivas E et al. Targeted screening for the detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy or asymptomatic hyperCKemia using dried blood: a Spanish cohort. Neuromuscul Disord 2015; 25 (7): 548–5.
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
In part two, Associate Professors Andrew Kornberg and Carolyn Ellaway review the considerations for managing Fabry disease in Australia and provide practical guidance on diagnosis and treatment, including the steps required for screening and referring to specialist centres. Intended for healthcare professional audiences.
For more information about diagnostic testing, please visit sanofigenzymeonline.com.au/diagnostics
The Fabry association mentioned in this podcast is Fabry Australia. More information about this not-for-profit can be found at fabry.com.au.
The list of Fabry disease clinics in Australia can be found on the Fabry Australia website at fabry.com.au/fabry-clinics and are listed below for convenience. Please note that patients from Tasmania are referred to Royal Melbourne Hospital, patients from Darwin are referred to Brisbane hospitals and patients from Alice Spring are referred to Royal Adelaide Hospital.
Royal Adelaide Hospital
Associate Professor Ian Chapman
Internal Medicine
Location: Royal Adelaide Hospital
Email: [email protected]
Phone: +61 8 8222 4162
Royal Brisbane and Women's Hospital (QLD)
Dr Charles Denaro
Internal Medicine & Aged Care
Location: Royal Brisbane & Women's Hospital (QLD)
Email: [email protected]
Phone: +61 7 3646 7678
Royal Melbourne Hospital (Vic & Tas)
Dr Kathy Nicholls
Nephrologist
Location: Royal Melbourne Hospital
Address: Grattan St, Parkville, VIC, 3050
Phone: +61 3 9342 7143
Royal Perth Hospital (WA)
Dr Mark Thomas
Nephrologist
Location: Royal Perth Hospital
Address: 197 Wellington St, Perth WA 6000
Email: [email protected]
Phone: +61 89224 2550
Westmead Hospital
Dr Michel Tchan
Metabolic Clinic
Location: Westmead Hospital (NSW & ACT)
Email: [email protected]
Phone: +61 2 9845 9780
Australian Paediatric Fabry Clinics
Royal Children's Hospital (Vic)
Dr Heidi Peters and Dr Joy Lee
Clinical Metabolic Services
Location: Royal Childrens Hospital (VIC)
Email: [email protected]
Phone: +61 3 9345 6251
Women's and Children's Hospital (SA)
Dr Drago Bratkovic
Metabolic Clinic
Location: Women's and Children's Hospital, SA
Email: [email protected]
Phone: +61 8 8161 6726
Royal Children's Hospital (QLD)
Dr Jim McGill
Metabolic Medicine
Location: Royal Children's Hospital (QLD)
Email: [email protected]
Phone: +61 7 3646 8111
King Edward Memorial Hospital (WA)
Associate Professor Nicholas Pachter
Genetic Services of Western Australia
Location: King Edward Memorial Hospital (WA)
Email: [email protected]
Phone: +61 6458 1525
The Children's Hospital at Westmead (NSW)
Dr Carolyn Ellaway
Genetic Metabolic Disorders Services
Lysosomal Disorders Multidisciplinary Management Clinic
Location: The Children's Hospital at Westmead (NSW)
Email: [email protected]
Phone: +61 2 9845 3654
Reference:
The views and opinions expressed in the presentation are solely those of Associate Professor Carolyn Ellaway and Associate Professor Andrew Kornberg and should not be attributed to any organisation with which the presenter is employed or affiliated and are not necessarily the views of Sanofi Genzyme.
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-2102516. Date of preparation December 2021. 2200137.
In the concluding episode, Associate Professor Carolyn Ellaway evaluates the management of Fabry disease in Australia from her patient’s perspective, reviewing their journey from mystery illness to treatable disease. Intended for healthcare professional audiences.
For more information about diagnostic testing, please visit sanofigenzymeonline.com.au/diagnostics
See episode website for full notes, including references & legal information.
The views and opinions expressed in the presentation are solely those of Associate Professor Carolyn Ellaway and Associate Professor Andrew Kornberg and should not be attributed to any organisation with which the presenter is employed or affiliated and are not necessarily the views of Sanofi Genzyme.
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-2102516. Date of preparation December 2021. 2200137.
The podcast currently has 11 episodes available.