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Objective and Method

Consensus based on literature supporting clinical presentation and recommendations

Literature Analysis on LOPD Symptoms (Neurology): Hierarchy of Evidence

GPs/Peds/IM-Specific

Clinical Presentation for Pediatric/Juvenile* and Adult# LOPD Proposed During the First Meeting

► Difficulty in climbing stairs

► Difficulty in standing up from a chair

► Difficulty in washing the hair

► Difficulty in placing an object at a level over the head

► Muscle cramps and exercise intolerance

► Difficulty in breathing at rest or on effort

► Feeding/swallowing difficulties and jaw muscle fatigue

expert-group-consensus

High CK/elevated LDH, ALT,and AST

Family history of unexplained muscle weakness or respiratory failure

GPs/Peds/IM-Specific Diagnostic Algorithm Proposed During the Second 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; #The age of patients with adult LOPD is usually 18 years and above.

MAT-KW-2300242 V1 Jul 2023