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Mucopolysaccharidoses

Current Rheumatology Reports volume 16, Article number: 389 (2014) Cite this article

Abstract

The mucopolysaccharidoses (MPSs) are a group of rare genetic disorders of glycosaminoglycan catabolism, caused by a deficiency of lysosomal enzymes required for GAG degradation. Incomplete breakdown of glycosaminoglycans leads to progressive accumulation of these substances in many tissues throughout the body. Different residual enzymatic activity can result in different phenotypes of the same MPS disorder, from severe to attenuated. Musculoskeletal manifestations are common across all forms of MPS. Skeletal and joint abnormalities are prominent features of many MPS disorders, particularly attenuated phenotypes. However, diagnostic delays occur frequently for patients with an MPS, especially those with more attenuated forms of disease. In the absence of appropriate treatment, these conditions are chronic, progressive and often debilitating, but treatment for many types of MPS is now available. Therefore, increasing awareness of MPS among rheumatologists is extremely important.

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Acknowledgment

The authors wish to thank Dr Alberto Gaeta from the Radiology Unit, Pope Giovanni XXIII Pediatric Hospital, Bari, Italy, for contributing the radiographic image of MPS.

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Conflict of Interest

Francesco La Torre has served as a consultant for Genzyme and Biomarin. Rolando Cimaz has received speaking fees from Genzyme and Biomarin.

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This article does not contain any studies with human or animal subjects performed by any of the authors.

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  1. Department of Pediatrics, Rheumatology Unit, AOU Meyer Hospital, Viale Pieraccini, no. 24, 50139, Firenze, Italy

    Rolando Cimaz

  2. Department of Pediatrics, Pediatric Unit, Antonio Perrino Hospital, SS7 per Mesagne, 72100, Brindisi, Italy

    Francesco La Torre

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  1. Rolando Cimaz
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Correspondence to Rolando Cimaz.

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Cimaz, R., La Torre, F. Mucopolysaccharidoses. Curr Rheumatol Rep 16, 389 (2014). https://doi.org/10.1007/s11926-013-0389-0

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Keywords

  • Mucopolysaccharidoses
  • Joint contractures
  • Musculoskeletal manifestations
  • Carpal tunnel syndrome
  • Dysostosis multiplex
  • Attenuated phenotypes
  • Joint stiffness
  • Diagnosis
  • Treatment