Abstract
Introduction: Maroteaux-Lamy Syndrome (MPS VI) is a rare type of mucopolysaccharidosis in the world, however in Brazil it is one of the most commonly diagnosed.
Objectives: to measure the functionality, functional capacity and strength of the respiratory muscles of MPS type VI carriers in a Brazilian Center of inborn errors of metabolism.
Method: cross sectional study. Pediatric Evaluation of Disability Inventory (PEDI) or Functional Independence Measure (FIM) was applied according with the age. Relation between muscles strength and total distance walked on the test (6MWD) were analyzed based on simple linear regression models. Student's t test and ANOVA test were performed to measure the average difference between groups. Relations between Maximal Inspiratory Pressure (MIP), Maximal Expiratory Pressure (MEP) and the total distance walked on 6MWT were analysed based on simple linear regression models, significant p<0.05.
Results: from the 24 MPS VI carriers, the average distance walked on the 6MWT was 300 meters (about 984ft) and it´s average predicted value was 585 meters (p<0.001) (about 1919ft). The average values found in the respiratory muscles strength tests was MIP -56 ± 36.0 cmH2O, and the predicted average MIP= -62±12,7cmH2O (p=0,002). In the PEDI evaluation, 33.3% showed lower performance than expected in the self-care and mobility areas. In the FIM evaluation, 53.3% showed modified dependence and 41.7% showed modified independence.
Conclusion: we observed reduction on the functional capacity and significant reduction strength of the respiratory muscles in MPS VI patients, besides the functional dependence in most of the patients.
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