Most parents will never hear of mucopolysaccharidoses, better known as MPS, a group of several genetic conditions that are extremely rare. But for the children who are affected, symptoms can start early in life and may go undiagnosed or be misdiagnosed - Joseph Muenzer MD PhD


image by: MPS Society UK, here for those with rare diseases

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Spot The Early Signs

Misdiagnosis of Mucopolysaccharidosis (MPS) results in late diagnosis and the late start of treatment, which has significant consequences on long-term outcomes. This gap usually results in confusing symptoms with other conditions, most notably trying to address symptoms directly and therefore delaying actual diagnosis and treatment, or referring the patient to the wrong pediatric specialties causing further delays in the condition’s management chain.

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Last Updated : Saturday, September 24, 2022