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

Pediatric/Juvenile^* LOPD

Delayed motor milestones
Low/absent reflexes
Mild facial muscle weakness
HyperCKemia/paucisymptomatic
Negative SMA/DMD
Shortness of breath at rest or on effort
Muscle pain and elevated ALT/AST
Gait abnormalities
Scoliosis/scapular winging
Disproportional weakness of the neck flexors and difficulty in raising the head

Adult^# LOPD

LGMW
Swallowing difficulties
Frequent falls
Difficulty chewing/jaw muscle fatigue
Difficulty in walking and climbing stairs
Double-seronegative MG
Muscle pain and elevated ALT/AST
Gait abnormalities
HyperCKemia/paucisymptomatic
Unexplained myopathy
Scoliosis/scapular winging

High CK/elevated LDH, ALT,and AST

Family history of unexplained muscle weakness or respiratory failure

Proposed Diagnostic Algorithm for Neurologists 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.

Abbreviations

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.

Reference

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.

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MAT-KW-2300243 V1 Jul 2023