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A Multidisciplinary Perspective Addressing the Diagnostic Challenges of Late-Onset Pompe Disease in the Arabian Peninsula Region Developed From an Expert Group Meeting
Pompe disease is a rare, metabolic, autosomal recessive disorder. Early diagnosis is critical for progressive Pompe disease as delays can significantly alter the clinical course of the disease. Diagnostic modalities, including dried blood spot testing and genetic testing, are available and are effec...
Autores principales: | , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
IOS Press
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9535603/ https://www.ncbi.nlm.nih.gov/pubmed/35754286 http://dx.doi.org/10.3233/JND-220819 |
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author | Al Shehri, Ali Al-Asmi, Abdullah Al Salti, Abdullah Mohammed Almadani, Abubaker Hassan, Ali Bamaga, Ahmed K. Cupler, Edward J. Al-Hashel, Jasem Alabdali, Majed M. Alanazy, Mohammed H. Noori, Suzan |
author_facet | Al Shehri, Ali Al-Asmi, Abdullah Al Salti, Abdullah Mohammed Almadani, Abubaker Hassan, Ali Bamaga, Ahmed K. Cupler, Edward J. Al-Hashel, Jasem Alabdali, Majed M. Alanazy, Mohammed H. Noori, Suzan |
author_sort | Al Shehri, Ali |
collection | PubMed |
description | Pompe disease is a rare, metabolic, autosomal recessive disorder. Early diagnosis is critical for progressive Pompe disease as delays can significantly alter the clinical course of the disease. Diagnostic modalities, including dried blood spot testing and genetic testing, are available and are effective for diagnosing patients with late-onset Pompe disease (LOPD). However, clinicians face numerous clinical challenges related to the diagnosis of the disease. Two expert group committee meetings, involving 11 experts from the United Arab Emirates, Kuwait, the Kingdom of Saudi Arabia, and Oman, were convened in October 2019 and November 2020 respectively to develop a uniform diagnostic algorithm for the diagnosis of pediatric and adult LOPD in the Arabian Peninsula region. During the first meeting, the specialty-specific clinical presentation of LOPD was defined. During the second meeting, a diagnostic algorithm was developed after a thorough validation of clinical presentation or symptoms, which was performed with the aid of existing literature and expert judgement. A consensus was reached on the diagnostic algorithm for field specialists, such as neurologists, rheumatologists, general practitioners/internal medicine specialists, orthopedic specialists, and pulmonologists. This specialty-specific diagnostic referral algorithm for pediatric and adult LOPD will guide clinicians in the differential diagnosis of LOPD. |
format | Online Article Text |
id | pubmed-9535603 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | IOS Press |
record_format | MEDLINE/PubMed |
spelling | pubmed-95356032022-10-20 A Multidisciplinary Perspective Addressing the Diagnostic Challenges of Late-Onset Pompe Disease in the Arabian Peninsula Region Developed From an Expert Group Meeting Al Shehri, Ali Al-Asmi, Abdullah Al Salti, Abdullah Mohammed Almadani, Abubaker Hassan, Ali Bamaga, Ahmed K. Cupler, Edward J. Al-Hashel, Jasem Alabdali, Majed M. Alanazy, Mohammed H. Noori, Suzan J Neuromuscul Dis Review Pompe disease is a rare, metabolic, autosomal recessive disorder. Early diagnosis is critical for progressive Pompe disease as delays can significantly alter the clinical course of the disease. Diagnostic modalities, including dried blood spot testing and genetic testing, are available and are effective for diagnosing patients with late-onset Pompe disease (LOPD). However, clinicians face numerous clinical challenges related to the diagnosis of the disease. Two expert group committee meetings, involving 11 experts from the United Arab Emirates, Kuwait, the Kingdom of Saudi Arabia, and Oman, were convened in October 2019 and November 2020 respectively to develop a uniform diagnostic algorithm for the diagnosis of pediatric and adult LOPD in the Arabian Peninsula region. During the first meeting, the specialty-specific clinical presentation of LOPD was defined. During the second meeting, a diagnostic algorithm was developed after a thorough validation of clinical presentation or symptoms, which was performed with the aid of existing literature and expert judgement. A consensus was reached on the diagnostic algorithm for field specialists, such as neurologists, rheumatologists, general practitioners/internal medicine specialists, orthopedic specialists, and pulmonologists. This specialty-specific diagnostic referral algorithm for pediatric and adult LOPD will guide clinicians in the differential diagnosis of LOPD. IOS Press 2022-09-09 /pmc/articles/PMC9535603/ /pubmed/35754286 http://dx.doi.org/10.3233/JND-220819 Text en © 2022 – The authors. Published by IOS Press https://creativecommons.org/licenses/by-nc/4.0/This is an open access article distributed under the terms of the Creative Commons Attribution Non-Commercial (CC BY-NC 4.0) License (https://creativecommons.org/licenses/by-nc/4.0/) , which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Review Al Shehri, Ali Al-Asmi, Abdullah Al Salti, Abdullah Mohammed Almadani, Abubaker Hassan, Ali Bamaga, Ahmed K. Cupler, Edward J. Al-Hashel, Jasem Alabdali, Majed M. Alanazy, Mohammed H. Noori, Suzan A Multidisciplinary Perspective Addressing the Diagnostic Challenges of Late-Onset Pompe Disease in the Arabian Peninsula Region Developed From an Expert Group Meeting |
title | A Multidisciplinary Perspective Addressing the Diagnostic Challenges of Late-Onset Pompe Disease in the Arabian Peninsula Region Developed From an Expert Group Meeting |
title_full | A Multidisciplinary Perspective Addressing the Diagnostic Challenges of Late-Onset Pompe Disease in the Arabian Peninsula Region Developed From an Expert Group Meeting |
title_fullStr | A Multidisciplinary Perspective Addressing the Diagnostic Challenges of Late-Onset Pompe Disease in the Arabian Peninsula Region Developed From an Expert Group Meeting |
title_full_unstemmed | A Multidisciplinary Perspective Addressing the Diagnostic Challenges of Late-Onset Pompe Disease in the Arabian Peninsula Region Developed From an Expert Group Meeting |
title_short | A Multidisciplinary Perspective Addressing the Diagnostic Challenges of Late-Onset Pompe Disease in the Arabian Peninsula Region Developed From an Expert Group Meeting |
title_sort | multidisciplinary perspective addressing the diagnostic challenges of late-onset pompe disease in the arabian peninsula region developed from an expert group meeting |
topic | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9535603/ https://www.ncbi.nlm.nih.gov/pubmed/35754286 http://dx.doi.org/10.3233/JND-220819 |
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