E-ISSN 1658-7820
 

Original Article

Online Publishing Date:
15 / 11 / 2021

 


Late-onset Pompe disease prevalence among patients with lower girdle muscle weakness in Saudi Arabia: study protocol

Aly Ezzat, Marwan ElBagoury, Sherif Roushdy, Yahia Aktham.


Abstract
Background: Pompe disease (PD) is a rare genetic lysosomal storage disorder that causes glycogen deposition in different body tissues/organs. Diagnosis of PD is still difficult and often delayed due to several factors as a wide clinical spectrum, overlapping of signs and symptoms with other neuromuscular disorders, and difficulties in completing the diagnostic investigations. Therefore, it was imperative to identify cases of PD amongst the high-risk population. The primary aim of this study is to determine the prevalence of late-onset PD (LOPD) among the high-risk group [patients with limb-girdle muscle weakness (LGMW) with/without HyperCKemia of unknown cause] in the Kingdom of Saudi Arabia (KSA).
Methods: A multicenter, cross-sectional screening study with an interventional diagnostic procedure (dried blood spot enzymatic activity and genetic testing) to primarily assess the prevalence of LOPD in patients with LGMW with/without HyperCKemia of unknown cause in the KSA. All eligible patients were tested after obtaining written informed consent from their parents/guardians.
Results: The analyses of this study were descriptive, and the sample size was chosen to permit the collection of sufficient data in order to determine the prevalence of LOPD in patients with LGMW with/without HyperCKemia. Consequently, the sample size has not been assessed in terms of statistical power but rather precision based on the expected frequency.
Conclusion: Despite multiple previous studies reported the incidence or prevalence of Pome disease in Saudi Arabia. Still, none of them revealed the incidence of LOPD among the high-risk group (patients with LGMW with/without HyperCKemia of unknown cause). Our screening study was the first to reveal the true numbers of LOPD among the high-risk group in Saudi Arabia, and it set a model for future studies to be conducted in the Middle-East and North Africa region.

Key words: Pompe disease, late-onset Pompe disease, LOPD, limb-girdle muscle weakness, LGMW, Saudi Arabia.


 
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How to Cite this Article
Pubmed Style

Ezzat A, ElBagoury M, Roushdy S, Aktham Y. Late-onset Pompe disease prevalence among patients with lower girdle muscle weakness in Saudi Arabia: study protocol. IJMDC. 2021; 5(12): 2032-2037. doi:10.24911/IJMDC.51-1626283943


Web Style

Ezzat A, ElBagoury M, Roushdy S, Aktham Y. Late-onset Pompe disease prevalence among patients with lower girdle muscle weakness in Saudi Arabia: study protocol. https://www.ijmdc.com/?mno=97396 [Access: June 04, 2024]. doi:10.24911/IJMDC.51-1626283943


AMA (American Medical Association) Style

Ezzat A, ElBagoury M, Roushdy S, Aktham Y. Late-onset Pompe disease prevalence among patients with lower girdle muscle weakness in Saudi Arabia: study protocol. IJMDC. 2021; 5(12): 2032-2037. doi:10.24911/IJMDC.51-1626283943



Vancouver/ICMJE Style

Ezzat A, ElBagoury M, Roushdy S, Aktham Y. Late-onset Pompe disease prevalence among patients with lower girdle muscle weakness in Saudi Arabia: study protocol. IJMDC. (2021), [cited June 04, 2024]; 5(12): 2032-2037. doi:10.24911/IJMDC.51-1626283943



Harvard Style

Ezzat, A., ElBagoury, . M., Roushdy, . S. & Aktham, . Y. (2021) Late-onset Pompe disease prevalence among patients with lower girdle muscle weakness in Saudi Arabia: study protocol. IJMDC, 5 (12), 2032-2037. doi:10.24911/IJMDC.51-1626283943



Turabian Style

Ezzat, Aly, Marwan ElBagoury, Sherif Roushdy, and Yahia Aktham. 2021. Late-onset Pompe disease prevalence among patients with lower girdle muscle weakness in Saudi Arabia: study protocol. International Journal of Medicine in Developing Countries, 5 (12), 2032-2037. doi:10.24911/IJMDC.51-1626283943



Chicago Style

Ezzat, Aly, Marwan ElBagoury, Sherif Roushdy, and Yahia Aktham. "Late-onset Pompe disease prevalence among patients with lower girdle muscle weakness in Saudi Arabia: study protocol." International Journal of Medicine in Developing Countries 5 (2021), 2032-2037. doi:10.24911/IJMDC.51-1626283943



MLA (The Modern Language Association) Style

Ezzat, Aly, Marwan ElBagoury, Sherif Roushdy, and Yahia Aktham. "Late-onset Pompe disease prevalence among patients with lower girdle muscle weakness in Saudi Arabia: study protocol." International Journal of Medicine in Developing Countries 5.12 (2021), 2032-2037. Print. doi:10.24911/IJMDC.51-1626283943



APA (American Psychological Association) Style

Ezzat, A., ElBagoury, . M., Roushdy, . S. & Aktham, . Y. (2021) Late-onset Pompe disease prevalence among patients with lower girdle muscle weakness in Saudi Arabia: study protocol. International Journal of Medicine in Developing Countries, 5 (12), 2032-2037. doi:10.24911/IJMDC.51-1626283943





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