Expert Group Consensus From The Arabian Peninsula On The Diagnosis Of Late Onset Pompe Disease for orthopedists
Objective and Method
Consensus based on literature supporting clinical presentation and recommendations
Literature Analysis on LOPD Symptoms (Orthopedics): Hierarchy of Evidence
Orthopedics-Specific
Clinical Presentation for Pediatric/Juvenile* LOPD Proposed During the First Meeting
Orthopedics-Specific
Clinical Presentation for Pediatric/Juvenile* LOPD Proposed During the First Meeting
Conclusion
Recommendation
Testing for Pompe disease must be done if any one specialty-specific symptom plus elevated CK/LDH/ALT/AST or a family history of unexplained muscle weakness is present.
*The age of patients with pediatric/juvenile LOPD ranges from 1 to 17 years.
Abbreviations
ALT: Alanine aminotransferase; AST: Aspartate aminotransferase; CK: Creatine kinase; DBS: Dried blood spot testing; KSA: Kingdom of Saudi Arabia; LDH: Lactate dehydrogenase; LGMW: Limb–girdle muscle weakness; LOPD: Late-onset Pompe disease; UAE: United Arab Emirates.
References
Al Shehri A, Al-Asmi A, Al Salti AM, et al. A multidisciplinary perspective addressing the diagnostic challenges of late-onset Pompe disease in the Arabian Peninsula region developed from an Expert Group Meeting. J Neuromuscul Dis. 2022;9(5):661–673.
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