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

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.