Functional capacity evaluation of patients with mucopolysaccharidosis

Abstract

Introduction:The mucopolysaccharidoses (MPS) are rare genetic disorders caused by a deficiency in lysosomal enzymes that affect the catabolism of glycosaminoglycans and cause their accumulation, resulting in a multisystemic clinical picture. Their clinical manifestations result in limited ability to perform daily life tasks. Objectives: To evaluate functional capacity and joint range of motion (ROM) in patients with MPS followed at the reference center for lysosomal disorders at Hospital de Clínicas de Porto Alegre, Brazil. Methods: This was a prospective longitudinal study with a convenience sample. The Pediatric Evaluation of Disability Inventory (PEDI) and the Functional Independence Measure (FIM) were used to evaluate functionality and goniometry was used to evaluate ROM at three times (baseline, 6 months, and 12 months after study inclusion). An exploratory analysis was done of the effect of enzyme replacement therapy (ERT) in both variables; thus, patients were divided into Group 1 (patients without ERT), Group 2 (patients on ERT before and after study inclusion), and Group 3 (patients who started ERT after study inclusion).

A Description of Skeletal Manifestation in Adult Case of Morquio Syndrome: Radiographic and MRI Appearance

“…Although the moderate gravity of the skeletal alterations showed in our rare case, it does not appear to be classified as spondyloepiphyseal dysplasia (SED of Maroteaux) because of the presence of keratan sulfate [15]. The preservation of functionality is an increasing challenge in the treatment of patients with Morquio syndrome and maintenance of occupational performance should be defined as one of the main goals to be reached by the therapies used [16]. In conclusion, we would like to stress the uniqueness of our imaging collection; we believe that for the study of chronic progressive course with multijoint involvement of the Morquio disease, subsequent MRI imaging assessments can provide useful information, giving the patients a substantial impact about the evolution of this pathologic condition.…”

Intravenous Enzyme Replacement Therapy in Mucopolysaccharidoses: Clinical Effectiveness and Limitations

“…Improvement in mobility was seen in 6 of 12 MPS VII patients treated with vestronidase alfa and 6 out of 12 patients showed fine motor issues and self-care improvement [21,157]. Conversely, Cox-Brinkman et al did not find any ROM improvement in MPS I after one year of treatment with laronidase [94] and Guarany et al did not see any difference between treated and not-treated patients with different MPSs [95]. In conclusion, response of joint restriction to ERT is probably variable, depending on age and individual compromise.…”

Sensory-motor behavioral characterization of an animal model of Maroteaux-Lamy syndrome (or Mucopolysaccharidosis VI)

“…The effects of ERT in MPS VI patients are generally evaluated only on the 6–12 min walking test or climb test, and it is generally reported to improve these behavioral functions as well as urinary GAG levels793849. Nevertheless, when more detailed behavioral analysis is performed, using for instance joint motility scores, some of the therapeutic limits of ERT are generally unrevealed638. These results highlight the importance of addressing the efficacy of novel therapies on different behavioral parameters in both clinical and pre-clinical research.…”

“…Although, bone marrow transplantation and enzyme replacement therapy (ERT) clearly ameliorate the clinical phenotype of MPS VI patients456789, there is no cure for MPS VI or any other MPS. Preclinical basic research on spontaneous animal models of MPS VI in cats, dogs, and rats, as well as a knockout model in mice created with gene targeting, is being undertaken with the expectation that it will provide an effective novel and resolute therapy for this disorder101112131415.…”