Early diagnosis, with the help of enzyme deficiency testing, and management may help slow disease progression1

Because of the heterogeneity of MPS VII, not all signs and symptoms may be immediately apparent at birth.1,2

Early diagnosis can lead to better management and may help prevent future complications.1

Since MPS VII and other MPS disorders cannot be diagnosed based on clinical presentation alone, it is important to confirm diagnosis with enzyme deficiency testing as soon as MPS is suspected. Molecular testing may also be required to confirm the diagnosis.1

The MPS diagnostic journey1

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References: 1. Kubaski F, de Oliveira Poswar F, Michelin-Tirelli K, et al. Diagnosis of Mucopolysaccharidoses. Diagnostics. 2020;10(3):172. Published 2020 Mar 22. 2. Muenzer J. Overview of the mucopolysaccharidoses. Rheumatology (Oxford). 2011;50(suppl 5):v4-v12.