Objective and Method
Consensus based on literature supporting clinical presentation and recommendations
Systemic review and meta-analysis
Randomized controlled trials
Observational studies (cohort studies/screening studies)
Case series studies
Case series, case reports
Expert Opinion
- 4 studies for adult# LOPD
- 7 studies for pediatric* LOPD and 11 studies for adult# LOPD
Pulmonology-Specific
Clinical Presentation for Pediatric/Juvenile* and Adult# LOPD Proposed During the First Meeting
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Respiratory failure/insufficiency
Diaphragm weakness
Dyspnea
Orthopnea
Sleep-disordered breathing
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High CK/elevated |
Pulmonology-Specific
Diagnostic Algorithm Proposed During the Second Meeting
Conclusion
A consensus-based diagnostic algorithm simplifies LOPD diagnosis across specialties
Guides clinicians in the differential diagnosis of LOPD
Facilitates direct referral for early and accurate diagnosis of LOPD
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 are present.
Conclusion
*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.
ALT: Alanine aminotransferase; AST: Aspartate aminotransferase; CK: Creatine kinase; DBS: Dried blood spot testing; DMD: Duchenne muscular dystrophy; KSA: Kingdom of Saudi Arabia; LDH: Lactate dehydrogenase; LGMW: Limb–girdle muscle weakness; LOPD: Late-onset Pompe disease; MG: Myasthenia gravis; SMA: Spinal muscular atrophy; UAE: United Arab Emirates.
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.
MAT-BH-2300386-V1-MAY 2023