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Diagnosis

Morquio A is a progressive disease. Early diagnosis is essential and enables optimal patient management through effective lifetime coordination of care across the multiple specialties needed to treat the disease.1,29,39

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Clinical signs

Suspicion of Morquio A begins with clinical and/or radiographic findings. Patients typically appear normal at birth and develop symptoms between the first year of life through adolescence, depending on the rate of disease progression.4,29

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  • Over 70% of Morquio A patients manifest with unusual skeletal features in the first few years of life; these features can be confirmed by clinical observation or skeletal radiograph.4
  • Patients with slowly progressing disease may be challenging to identify. Hip stiffness and pain are potential first signs of Morquio A in these patients.29,31

Laboratory Testing

Confirmation of Morquio A diagnosis requires biochemical testing and/or molecular analysis.29

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  • Tests for urinary GAG carry high rates of false-negatives necessitating enzyme activity assay or molecular analyses for confirmation of Morquio A.29

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  • Differentiation of similar MPS disorders, such as Morquio A and Morquio B, are critical in light of emerging therapeutic approaches.

Differential Diagnosis

Differential diagnosis of Morquio A from other Dysostosis multiplex MPS disorders and from additional skeletal dysplasias is essential.29

  • Biochemical and genetic findings are useful in distinguishing Morquio A from other MPS disorders.29
  • Enzyme analysis is recommended to rule out MPS IVB, which is characterized by deficient β-galactosidase activity.29

Radiographic findings as well as biochemical and genetic findings are useful in differentiating Morquio A from non-dysostosis multiplex skeletal dysplasias.29

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