{ event: "article_read", name: `Expert Group Consensus From the Arabian Peninsula On the Diagnosis of Lopd`, author: ``, tags: `Rare Diseases | Rare-Diseases | inspiration-and-innovation`, publication_date: ``, interaction_type: "content" }
Expert Group Consensus From the Arabian Peninsula On the Diagnosis of Lopd
Objective and Method
Consensus based on literature supporting clinical presentation and recommendations
Literature Analysis on LOPD Symptoms (Rheumatology): Hierarchy of Evidence
Clinical Presentation for Adult# LOPD Proposed During the First Meeting
Unexplained general/inflammatory myopathy
Asymptomatic hyperCKemia/paucisymptomatic
Unexplained LGMW
Polymyositis non-responding to steroids
High CK/elevated LDH, ALT, and AST
Rheumatology-Specific Diagnostic Algorithm Proposed During the Second Meeting
Conclusion
A consensus-based diagnostic algorithm simplifies LOPD diagnosis across specialties
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 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.
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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