Characterization of musculoskeletal system in individuals with mucopolysaccharidosis type II : some kinectics features and functional consequences / Caracterização do sistema musculo-esqueletico em individuos com mucopolissacaridose Tipo II : alguns aspectos cineticos e consequencias funcionais

AUTOR(ES)
DATA DE PUBLICAÇÃO

2007

RESUMO

Mucopolysaccharidosis type II (MPS-II) is a rare lysosomal storage disorder caused by deficiency in the activity of the enzyme iduronate-2-sulphatase. This enzyme is responsible for the catabolism of two different glycosaminoglycans (GAGs), dermatan sulfate and heparan sulfate. Lysosomal accumulation of these glycosaminoglycan molecules results in cell, tissue and organ dysfunction. The musculoskeletal system involvement is due to essential accumulated glycosaminoglycans in joints and connective tissue. MPS-II has many clinical features and includes two recognized clinical entities, mild and severe, that represent two ends of a wide spectrum of clinical severity. The aim of this study was to describe the musculoskeletal system in a sample of subjects with MPS-II relating the biomechanics and functional consequences. Biomechanical alterations were found, essentially in superior limbs joints that interfered in some functional activities of the subjects in the study. Deficit in movement amplitude in many joints, especially shoulders and elbows, was observed through the goniometry. The subjects showed force loss in several muscular groups, especially the flexors and extensors of the fingers as well as pronators and supinators. Dysostosis multiplex was seen in all individuals and typical postural changes were noted. These alterations contributed with the deficits in daily activities. PEDI and FIM scales was applied and the results demonstrated larger deficits in tasks with the functions of superior members, such as: to comb the hair, to dress a shirt and to tie the shoes

ASSUNTO(S)

iduronate sulfatase iduronato sulfatase musculoskeletal system mucopolysaccharidosis ii mucopolissacaridose ii sistema musculosqueletico

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