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Restricted upper extremity range of motion in mucopolysaccharidosis type I: no response to one year of enzyme replacement therapy

  • Original Article
  • Published:
Journal of Inherited Metabolic Disease

Summary

Background: Mucopolysaccharidosis type I (MPS I) results from deficiency of the lysosomal enzyme α-L-iduronidase (IDUA). Glycosaminoglycans (GAGs) accumulate in multiple organs and the storage in connective tissues results in restricted mobility. Previous studies provided evidence of an improvement in range of motion (ROM), as measured by goniometry, after supplementation of recombinant enzyme (ERT). Aim: The aim of the study was to evaluate the efficacy of ERT in improving ROM in patients with MPS I, using a blinded three-dimensional (3D) video analysis of unrestricted movements of the upper extremities. Methods: In 6 patients with the attenuated phenotype of MPS I, the longitudinal changes in the upper extremity ROM were analysed by 3D video analysis during one year of ERT. Results: At baseline, all studied movements except for elbow flexion were restricted. No significant improvement of the restricted upper extremity ROM was observed after one year of ERT. Conclusion: Long-standing restrictions in ROM probably cannot be reversed by ERT. Early initiation of treatment might be essential to prevent irreversible functional defects.

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Abbreviations

3D:

three-dimensional

ERT:

enzyme replacement therapy

GAGs:

glycosaminoglycans

IDUA:

α-L-iduronidase

MPS:

mucopolysaccharidosis

ROM:

range of motion

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Authors and Affiliations

  1. Department of Pediatrics, Academic Medical Center, Amsterdam, The Netherlands

    J. Cox-Brinkman & F. A. Wijburg

  2. Department of Plastic, Reconstructive and Hand Surgery, Academic Medical Center, Amsterdam, The Netherlands

    M. J. C. Smeulders

  3. Department of Endocrinology and Metabolism, Academic Medical Center, Amsterdam, The Netherlands

    C. E. M. Hollak

Authors
  1. J. Cox-Brinkman
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  2. M. J. C. Smeulders
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  3. C. E. M. Hollak
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  4. F. A. Wijburg
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Corresponding author

Correspondence to F. A. Wijburg.

Additional information

Communicating editor: Irene Maire

Competing interests: The study was in part financially sponsored by a grant from Genzyme Cooperation (Boston, MA, USA) and the Dutch Health Care Insurance board (CVZ). Financial support was provided without any involvement in the study: there was no involvement in the development or the study design, the data collection or analysis and in the writing and submission of the publication. All authors declare that there are no other potential conflicts of interest.

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Cox-Brinkman, J., Smeulders, M.J.C., Hollak, C.E.M. et al. Restricted upper extremity range of motion in mucopolysaccharidosis type I: no response to one year of enzyme replacement therapy. J Inherit Metab Dis 30, 47–50 (2007). https://doi.org/10.1007/s10545-006-0490-x

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  • DOI: https://doi.org/10.1007/s10545-006-0490-x

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