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

• Authors: Jolanta Marucha , Agnieszka Jurecka , Agnieszka Różdżyńska-Świątkowska , Anna Tylki-Szymańska
• Languages of publication: EN

Abstracts

EN

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.

Keywords

EN

Mucopolysaccharidosis type V; Maroteaux-Lamy syndrome; Enzyme replacement therapy; Range of motion; Physical therapy; Anthropometric features; Growth retardation

• Publisher: De Gruyter Open
• Journal: Open Medicine
• Year: 2012
• Volume: 7
• Issue: 2
• Pages: 154-162

Dates

published

1 - 4 - 2012

online

3 - 2 - 2012

Contributors

author

Jolanta Marucha

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

author

Agnieszka Jurecka

author

Agnieszka Różdżyńska-Świątkowska

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

author

Anna Tylki-Szymańska

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

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Identifiers

DOI

10.2478/s11536-012-0003-2