Abstract
The aims of the study were to assess the effectiveness of enzyme replacement therapy (ERT) with laronidase on the range of motion (ROM) of upper extremities and influence on activities of daily living (ADLs) of patients with mucopolysaccharidosis type I (MPS I). The ROM of 17 patients with MPS I was followed from the first year of life until the introduction of ERT and after 52–208 weeks of treatment. In all patients (group 1, n = 10), passive ROM was assessed. In patients with Hurler/Scheie or Scheie phenotype (group 2, n = 7) both passive and active ROM, as well as daily life activities, were evaluated. Passive and active ROM was measured by a goniometer, while a health assessment questionnaire was used to assess activities of daily living. The data since the first months of life until the beginning of treatment were obtained by retrospective review of patients’ charts. Restriction in ROM of the upper extremities of patients with MPS I was observed from the first year of life. These limitations intensified and became more severe with the patients’ age, making patients’ self-care more difficult or even impossible. Introduction of ERT led to slower progression of symptoms, especially in the passive range of motion in all patients. Additionally, patients with normal mental development, or only slightly delayed (group 2), who underwent active physical rehabilitation (including mobilisation of nerve system, passive techniques for joint mobility, active gymnastics for muscle power, as well as massage and the training of families for therapy at home) showed improvement in active movement followed by enhanced self-care.
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Abbreviations
- ADL:
-
activities of daily living
- AE:
-
adverse event
- GAG:
-
glycosaminoglycan
- ERT:
-
enzyme replacement therapy
- HAQ:
-
health assessment questionnaire
- IDUA:
-
α-L-iduronidase
- MPS:
-
mucopolysaccharidosis
- PT:
-
physical therapy
- ROM:
-
range of motion
- SFTR:
-
sagittal, frontal, transverse rotation system
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Communicated by: Ed Wraith
Reference to electronic databases: α-L-iduronidase: EC 3.2.1.76. Hurler syndrome: OMIM 607016. Hurler–Scheie syndrome: OMIM 607015. Scheie syndrome: OMIM 607016.
Competing interest: None declared.
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Tylki-Szymanska, A., Marucha, J., Jurecka, A. et al. Efficacy of recombinant human α-L-iduronidase (laronidase) on restricted range of motion of upper extremities in mucopolysaccharidosis type I patients. J Inherit Metab Dis 33, 151–157 (2010). https://doi.org/10.1007/s10545-010-9059-9
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DOI: https://doi.org/10.1007/s10545-010-9059-9