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


 ► 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,

Family history
of unexplained
muscle weakness
or respiratory

Proposed Diagnostic Algorithm for Neurologists During the Second Meeting


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.
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.

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