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Musculoskeletal manifestations of mucopolysaccharidosis type VI and effects of enzyme replacement therapy

  • Case Report
  • Published:
Central European Journal of Medicine

Abstract

The aim of this study was to describe the musculoskeletal manifestations of mucopolysaccharidosis VI and to assess the effectiveness of enzyme replacement therapy (ERT) with recombinant human arylsulfatase B on the bone and joint involvement in a patient with a severe phenotype of the disease. Before the initiation of ERT, the patient presented with significant range of motion (ROM) limitations at multiple joints. Flexion contractures were noticeable in all joints. After 48 weeks of ERT, improvement in active and passive shoulder flexion, as well as passive elbow and wrist flexion, was noticed. ROM improvements were reflected in patient’s enhanced self-care.

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Abbreviations

ADL:

activities of daily living

GAG:

Glycosaminoglycan

ERT:

Enzyme replacement therapy

HAQ:

Health Assessment Questionnaire

ARSB:

arylsulfatase B

MPS:

Mucopolysaccharidosis

PT:

Physical therapy

ROM:

Range of motion

SFTR:

sagittal, frontal, transverse rotation system

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Authors and Affiliations

  1. Department of Metabolic Diseases, The Children’s Memorial Health Institute, Al. Dzieci Polskich 20, 04-730, Warsaw, Poland

    Jolanta Marucha, Agnieszka Jurecka & Anna Tylki-Szymańska

  2. Department of Molecular Biology, University of Gdańsk, Kładki 24, 80-822, Gdańsk, Poland

    Agnieszka Jurecka

  3. Anthropometry Laboratory, The Children’s Memorial Health Institute, Al. Dzieci Polskich 20, 04-730, Warsaw, Poland

    Agnieszka Różdżyńska-Świątkowska

Authors
  1. Jolanta Marucha
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  2. Agnieszka Jurecka
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  3. Agnieszka Różdżyńska-Świątkowska
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  4. Anna Tylki-Szymańska
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Correspondence to Agnieszka Jurecka.

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Marucha, J., Jurecka, A., Różdżyńska-Świątkowska, A. et al. Musculoskeletal manifestations of mucopolysaccharidosis type VI and effects of enzyme replacement therapy. cent.eur.j.med 7, 154–162 (2012). https://doi.org/10.2478/s11536-012-0003-2

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  • DOI: https://doi.org/10.2478/s11536-012-0003-2

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