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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 delaying actual diagnosis and treatment or referring the patient to the wrong pediatric specialties, causing further delays in the condition’s management chain.
Recent Case Study examples of musculoskeletal manifestations of mucopolysaccharidoses.Reviewing how to recognize precocious musculoskeletal signs for metabolic disease and what these look like in practice.Using examples to understand the timing of orthopedic surgical options based on the presenting signs of MPS.