Latest Acroparesthesias Podcast Episodes

Detect the genetic cause: inherited muscular dystrophies & NMDs

Hereditary Diseases Pod - September 07, 2022 00:14 - 11 minutes
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 t...

Detect the genetic cause: inherited cardiac disorders

Hereditary Diseases Pod - September 07, 2022 00:10 - 12 minutes
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 c...

Detect the genetic cause (Part 1): inherited cardiac disorders

Hereditary Diseases Pod - August 24, 2021 03:18 - 13 minutes
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 c...

Detect the genetic cause (Part 2): inherited muscular dystrophies & NMDs

Hereditary Diseases Pod - August 24, 2021 03:18 - 11 minutes
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 t...

Is it Pompe Disease? Exploring Australian cases (Part 3)

Hereditary Diseases Pod - February 17, 2021 01:08 - 8 minutes
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 Considera...

Is it Pompe Disease? Exploring Australian cases (Part 2)

Hereditary Diseases Pod - February 17, 2021 00:52 - 7 minutes
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 Considera...

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

Hereditary Diseases Pod - February 16, 2021 22:52 - 8 minutes
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 Cons...

Is it Pompe disease? Case studies and management (Part 3)

Hereditary Diseases Pod - October 19, 2020 00:28 - 17 minutes
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)...

Is it Pompe disease? Investigation and diagnosis (Part 2)

Hereditary Diseases Pod - October 18, 2020 21:53 - 22 minutes
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)...

Is it Pompe disease? Introduction to Pompe disease (Part 1)

Hereditary Diseases Pod - October 18, 2020 21:31 - 18 minutes
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)...

Fabry disease in Australia part 2: the local experience

Hereditary Diseases Pod - January 29, 2020 21:26 - 13 minutes
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 healthca...

Fabry disease in Australia part 3: a patient’s story

Hereditary Diseases Pod - January 17, 2020 00:33 - 19 minutes
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 di...

Fabry disease in Australia part 1: what is Fabry disease?

Hereditary Diseases Pod - January 14, 2020 03:07 - 24 minutes
Fabry disease is a rare genetic metabolic disease with a challenging clinical presentation. Associate Professors Andrew Kornberg (Paediatric Neurologist, Royal Children’s Hospital Melbourne) and Carolyn Ellaway (Paediatrician, Clinical Geneticist and Metabolic Physician, Sydney Children’s Hospit...