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Expert group consensus from the Arabian Peninsula on the diagnosis of Late Onset Pompe Disease (LOPD)

Objective and Method

Consensus based on literature supporting clinical presentation and recommendations

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

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

 

Proposed Diagnostic Algorithm for Neurologists During the Second Meeting

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.

  1. 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-KW-2300243 V1 Jul 2023