Unraveling Skeletal Dysplasias: When to Think About Mucopolysaccharidosis

Mucopolysaccharidoses (MPS) are a group of rare genetic disorders characterized by excessive storage of glycosaminoglycans (GAGs) in tissues. Several types of MPS present as skeletal dysplasias, often leading to misdiagnosis or delayed diagnosis. The wide range of symptoms and severity of MPS, along with the lack of awareness among many healthcare providers, further complicates the challenge for patients in receiving early diagnosis and treatment, which are crucial for improving their outcomes and quality of life. This course will introduce you to MPS, with a focus on the forms that present as skeletal dysplasias. It will provide valuable clinical case examples, providing participants with useful knowledge to better recognize and manage these complex conditions. This activity is supported by an independent support grant from BioMarin.