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Mucopolysaccharidosis patients have reduced functional capacity

Bianca M C Dias1, Fernanda C Lanza2, Jenifer Dos Santos3

  • 1Universidade Federal de São Paulo (EPM-UNIFESP), São Paulo, São Paulo, Brazil.

Pediatric Pulmonology
|November 6, 2021
PubMed
Abstract

Insights

Patients with Mucopolysaccharidoses (MPS) exhibit significantly reduced functional capacity and slower heart rate recovery compared to healthy individuals. These findings highlight the physical challenges faced by MPS patients, even with enzyme replacement therapy.

Area of Science:

  • Rare diseases
  • Metabolic disorders
  • Genetics

Background:

  • Mucopolysaccharidoses (MPS) are rare genetic disorders.
  • Characterized by the intralysosomal accumulation of glycosaminoglycans.
  • Leads to multisystemic clinical conditions and physical-functional impairment.

Purpose of the Study:

  • To evaluate the functional capacity (FC) of MPS patients.
  • To compare the FC of MPS patients with a healthy control group.
  • To assess heart rate recovery (HRR) post-exercise in MPS patients.

Main Methods:

  • Cross-sectional study involving 19 MPS patients (ages 6-39) and matched controls.
  • Functional capacity assessed via Sit-to-Stand Test (SST) and Incremental Shuttle Walk Test (ISWT).
  • Heart rate (HR) and Borg rating of perceived exertion measured during ISWT; HRR calculated post-test.

Main Results:

  • MPS patients showed significantly longer SST times (p < .01).
  • MPS patients covered less distance on ISWT (p < .01) and reported higher Borg scores (p = .02).
  • MPS group exhibited slower HRR (32.9 bpm vs. 69.1 bpm; p < .001).

Conclusions:

  • MPS patients demonstrate markedly reduced functional capacity compared to healthy peers.
  • Impaired heart rate recovery was observed in MPS patients post-exercise.
  • These findings underscore the significant physical limitations associated with MPS.
Keywords:
functional capacityfunctional capacity testsmucopolysaccharidosis

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