Mucopolysaccharidosis Misdiagnosis: A Cross-Disciplinary Approach

60 minutes
English
Rare Diseases
Mucopolysaccharidosis
MPS

Early diagnosis of Mucopolysaccharidosis (MPS) is critical to slowing disease progression and improving outcomes. This 60-minute webinar, part of our Series 7 educational program, helps pediatricians and primary care professionals recognize MPS's diverse musculoskeletal, ENT, and cardiac signs. Led by experts Barbara Burton, Joseph Muenzer, and Kristin McKay, the session provides practical guidance on early symptom identification, differential diagnosis, and referral pathways.

Summary

This webinar uses detailed case studies to show how Mucopolysaccharidosis (MPS) can present across different ages and affect multiple organ systems. By working through real-world examples, participants will gain a deeper understanding of the complexity involved in diagnosing MPS in everyday practice.

Expert insights include:

  • Orthopedic Perspective – Klane White: How to distinguish MPS from common orthopedic and joint conditions, and when to consider a metabolic cause.
  • ENT Perspective – David Molter: How to recognize MPS through persistent or atypical ear, nose, and throat problems that do not respond to conventional treatment.
  • Cardiology Perspective – Elizabeth Braunlin: How to identify cardiovascular signs of MPS and differentiate them from more common pediatric heart conditions.

The session concludes with a moderated discussion led by Metabolic Disorders Specialist Barbara Burton, focusing on accurate symptom recognition, distinguishing MPS from similar conditions, and establishing timely referral pathways to minimize diagnostic delays and improve patient outcomes.