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.

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.

Gaucher

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Expert Group Consensus From The Arabian Peninsula On The Diagnosis Of Late Onset Pompe Disease (LOPD)

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MAT-KW-2300244 V1 Jul 2023