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

Abstract

<jats:title>Abstract</jats:title><jats:p>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.</jats:p>

Spinal Cord Compression in Maroteaux-Lamy Syndrome: Case Report and Review of the Literature with Effects of Enzyme Replacement Therapy

“…Her detailed baseline as well as 48 weeks of ERT data have been reported previously [9]. Before the initiation of ERT, the patient presented significant limitations in both upper and lower limb joints.…”

“…After 48 weeks of ERT, improvement of active shoulder flexion (30°) and passive elbow (25°) and wrist flexion (30°) was noticed. Increased range of motion resulted in improvement in the patient's functional status [9]. After 2.5 years of ERT sudden deterioration was noticed.…”