May 15 is #InternationalMPSAwarenessDay.

MPS diseases are #rare #genetic disorders that are present at #birth, although #symptoms may not manifest until early #childhood before #worsening progressively. Such symptoms can affect different parts of the body including airway passages, ears, facial features, the skeleton and joints, eyes, the liver, the heart, and in some cases, the brain.

Diagnosis of MPS diseases is often delayed since there is no specific checklist of wide-ranging MPS symptoms to reference. That’s compounded by the fact that symptoms, and their severity, can differ from patient to patient.

#Awareness and #education are vital to increasing the #recognition, #diagnosis, #understanding, and #management of #Mucopolysaccharidosis (#MPS) disorders such as #Sanfilippo syndrome, which is MPS type 3.

MPS diseases are thought to affect one in 25,000 individuals, although some disorders often go #misdiagnosed or #undiagnosed.

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