Efficacy of recombinant human alpha-L-iduronidase (laronidase) on restricted range of motion of upper extremities in mucopolysaccharidosis type I patients.
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.
Tylki-Szymanska
Anna
A
Department of Metabolic Diseases, The Children's Memorial Health Institute, Al Dzieci Polskich 20, 04730 Warsaw, Poland.
Marucha
Jolanta
J
Jurecka
Agnieszka
A
Syczewska
Malgorzata
M
Czartoryska
Barbara
B
D000203:Activities of Daily Living; D000293:Adolescent; D000328:Adult; D053587:Arthrometry, Articular; D002648:Child; D002675:Child, Preschool; D018450:Disease Progression; D004551:Elbow Joint / Q000187:drug effects / Q000502:physiology; D056947:Enzyme Replacement Therapy / Q000379:methods*; D005260:Female; D006801:Humans; D007068:Iduronidase / Q000627:therapeutic use*; D007223:Infant; D008297:Male; D009068:Movement / Q000187:drug effects; D008059:Mucopolysaccharidosis I / Q000188:drug therapy* / Q000503:physiopathology* / Q000534:rehabilitation; D016059:Range of Motion, Articular / Q000187:drug effects*; D011994:Recombinant Proteins / Q000627:therapeutic use*; D012648:Self Care; D012785:Shoulder Joint / Q000187:drug effects / Q000502:physiology; D014955:Wrist Joint / Q000187:drug effects / Q000502:physiology; D055815:Young Adult
D011994:Recombinant Proteins; D007068:Iduronidase