Objective and Method

Consensus based on literature supporting clinical presentation and recommendations

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

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


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

  Respiratory failure/insufficiency

  Diaphragm weakness



   Sleep-disordered breathing


High CK/elevated



Diagnostic Algorithm Proposed During the Second Meeting


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.


*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