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

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 signifcant 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 fexion, as well as passive elbow and wrist fexion, was noticed. ROM improvements were refected in patient's enhanced self-care. © Versita Sp. z o.o.