Authors (including presenting author) :
Tung WL(1), Tsang PK(1), Poon MC(1), Chan WW(1)
Affiliation :
(1) Allied Health Department (Physiotherapy), Hong Kong Children’s Hospital
Introduction :
Pompe disease is a rare metabolic disorder that affects multiple systems, leading to progressive muscle weakness and a decline in physical function. Currently, enzyme replacement therapy (ERT) is the only available treatment that helps slow disease progression. In addition to ERT, regular physiotherapy—encompassing mobilization, strengthening, and cardiopulmonary training—is essential for maintaining physical condition. Longitudinal monitoring of physical function and cardiopulmonary status is critical for optimal patient care. In this report, we present the case of an 18-year-old female diagnosed with atypical infantile Pompe disease, who underwent a comprehensive physiotherapy program at Hong Kong Children's Hospital (HKCH) and received annual assessments to monitor her condition.
Objectives :
The study aimed to monitor patients' physical and cardiopulmonary conditions through the use of an instrumented gait analysis laboratory, focusing on gait speed, oxygen consumption and lung function.
Methodology :
This retrospective case report describes a patient who received biweekly and subsequently weekly enzyme replacement therapy (ERT) with Myozyme from 2019 to 2023. During this period, she participated in regular physiotherapy sessions at HKCH, which included maintenance muscle strengthening exercises and cardiopulmonary training. Gait speed assessments were conducted in the instrumented gait laboratory at HKCH, utilizing a VICON marker-based motion analysis system. Oxygen consumption was measured through a standardized walking protocol in a predetermined rectangular pathway over a 10-minute walk, using the COSMED Wearable Metabolic System-K5. Additionally, lung function was evaluated with a portable spirometer, and cardiac function data was obtained from medical records.
Result & Outcome :
From 2019 to 2023, the patient's gait speed was largely maintained between 0.47 m/s and 0.5 m/s. However, oxygen consumption increased significantly from 0.309 mL/kg/m to 0.567 mL/kg/m (+83.50%), indicating a higher metabolic demand and suggesting that more energy is required to meet physiological needs during walking. For lung function, the predicted values for both FEV1 and FVC decreased slightly from 51% to 43% (-10.42%). Additionally, the ejection fraction also maintained from 78.7% to 77.1% during this period. To conclude, for patients with progressive diseases like Pompe disease, regular physiotherapy exercises are crucial for maintaining and slowing the deterioration of overall health. Longitudinal monitoring is essential; utilizing advanced equipment in our gait laboratory provides valuable insights for clinicians. This information aids in understanding the patient's condition and contributes to timely management through the early detection of natural deterioration in physical and cardiopulmonary functions.
