Expert group consensus from the Arabian Peninsula on the diagnosis of Late Onset Pompe Disease for Orthopedists
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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
Rheumatology-Specific
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.
Reference
- 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.
