Is it Pompe Disease? Australian diagnostic considerations

M. Tchan; R. Henderson; A. Kornberg; K. Kairaitis; M. Fuller; M. Davis; C. Ellaway; K. Reardon; A. Corbett; M. Needham; P. McKelvie

doi:10.1016/j.nmd.2020.03.007

Back

Is it Pompe Disease? Australian diagnostic considerations

Journal article

Peer reviewed

Is it Pompe Disease? Australian diagnostic considerations

M. Tchan, R. Henderson, A. Kornberg, K. Kairaitis, M. Fuller, M. Davis, C. Ellaway, K. Reardon, A. Corbett, M. Needham, …

Neuromuscular Disorders, Vol.30(5), pp.P389-P399

2020

DOI: https://doi.org/10.1016/j.nmd.2020.03.007

Files and links (1)

url

Link to Published Version *Subscription may be requiredView

Abstract

Pompe Disease is a spectrum disorder with an evolving phenotype in which diagnostic delay is common. Contributing factors include the rarity of the disorder, its wide clinical spectrum, signs and symptoms that overlap with those of other neuromuscular disorders, variable diagnostic approaches, lack of awareness of the clinical manifestations and difficulties in completing the diagnostic inventory. International updates and recommendations have been published providing diagnostic guidelines and management criteria. However, questions remain in the Australian setting. A panel (two neurologists, one clinical geneticist) reviewed the literature, examined clinical questions of relevance to the Australian setting, and developed a framework for the guidance. A wider panel, comprising the initial panel plus eight additional members, critiqued the framework and contributed clinical guidance within the scope of their respective areas of clinical expertise. The resultant expert consensus recommendations build on currently available data to propose an appropriate management framework incorporating the diagnosis, classification, therapeutic approach, multidisciplinary care, and on-going monitoring of patients with Pompe Disease in the Australian setting. It is hoped that diagnostic delay can be reduced with appropriate recourse to evidence-based insights and practical advice on diagnosis and management tailored to the Australian setting.

Details

Title: Is it Pompe Disease? Australian diagnostic considerations
Authors/Creators: M. Tchan (Author/Creator) - The University of Sydney
R. Henderson (Author/Creator) - Royal Brisbane and Women's Hospital
A. Kornberg (Author/Creator) - Royal Children's Hospital
K. Kairaitis (Author/Creator) - The University of Sydney
M. Fuller (Author/Creator) - Women's and Children's Hospital
M. Davis (Author/Creator)
C. Ellaway (Author/Creator) - Sydney Children's Hospital
K. Reardon (Author/Creator) - St Vincent's Health
A. Corbett (Author/Creator) - Concord Repatriation General Hospital
M. Needham (Author/Creator) - Neurology, Fiona Stanley Hospital, Institute for Immunology and Infectious Diseases, Murdoch University, Notre Dame University, WA, Australia.
P. McKelvie (Author/Creator) - St Vincent's Health
Publication Details: Neuromuscular Disorders, Vol.30(5), pp.P389-P399
Publisher: Elsevier BV
Identifiers: 991005541115207891
Copyright: © 2020 Elsevier B.V.
Murdoch Affiliation: Institute for Immunology and Infectious Diseases
Language: English
Resource Type: Journal article

UN Sustainable Development Goals (SDGs)

This output has contributed to the advancement of the following goals:

Source: InCites

Metrics

69 Record Views

3 Times Cited - Web of Science

InCites Highlights

These are selected metrics from InCites Benchmarking & Analytics tool, related to this output

Collaboration types: Domestic collaboration
Citation topics: 1 Clinical & Life Sciences; 1.271 Lysosomal Storage Disorders; 1.271.673 Enzyme Replacement Therapy
Web Of Science research areas: Clinical Neurology; Neurosciences
ESI research areas: Neuroscience & Behavior