Quantitative muscle ultrasound and electrical impedance myography in late onset Pompe disease: A pilot study of reliability, longitudinal change and correlation with function

Abstract

Background/objectives Late-onset Pompe disease (LOPD) is slowly progressive, making it difficult to assess clinical change and response to interventions. In this study, quantitative muscle ultrasonography (QMUS) and electrical impedance myography (EIM) were evaluated as potential biomarkers. Methods 25 patients with confirmed LOPD were recruited from the Duke Pompe Clinic and evaluated with standard clinical measures, QMUS, standard EIM (sEIM) and hand-held EIM (hEIM). Patients were evaluated at baseline, 12 months and 24 months. MUS, sEIM and hEIM were compared with the clinical data. Five patients were given hEIM devices to perform measurements at home. Results QMUS and hEIM had good reliability as measures of muscle structure and conduction properties. Home, patient-performed hEIM measurements did not differ significantly from those performed in the clinic setting. Thirteen patients completed all follow-up measures. Most measures did not change over the study period, however, vastus lateralis echointensity increased 27%, a sign of declining muscle health. Additionally, significant correlations between QMUS, hEIM and measures of muscle strength and function were present. Conclusions QMUS and hEIM may provide useful outcome measures for future studies in LOPD with hEIM providing an opportunity to collect data at home. Larger, multicenter studies are needed to explore these possibilities.

Altered electrical properties in skeletal muscle of mice with glycogen storage disease type II

“…Such information would provide additional support for the use of EIM as a non-invasive biomarker of muscle health. To this end, one very recent pilot study has correlated EIM outcomes with measures of muscle strength and function in several patients with late-onset Pompe disease 29 , suggesting that EIM could serve as a potential biomarker of clinical change and response to interventions in this disease.…”

Electrical impedance myography in healthy volunteers

“…It may be that the resistance measured in EIM is not the same as the muscle stiffness measure in elastography, although this would be better studied in disease states such as dystrophic muscle, which has a large amount of fibrotic tissue. Other studies have sought to correlate EIM with quantitative muscle ultrasound parameters but they also did not demonstrate good correlations 24,25 . Future studies comparing EIM and elastography in different neuromuscular disorders may provide further information about the two measurements of muscle physiology.…”

“…Other studies have sought to correlate EIM with quantitative muscle ultrasound parameters but they also did not demonstrate good correlations. 24,25 Future studies comparing EIM and elastography in different neuromuscular disorders may provide further information about the two measurements of muscle physiology.…”

Electrical impedance myography combined with quantitative assessment techniques in paretic muscle of stroke survivors: Insights and challenges

“…According to previous reports, the EIM and ultrasound could be applied jointly to depict muscle architecture ( Rutkove et al, 2010 ; Rutkove and Darras, 2013 ; Johnson et al, 2018 ; Hu et al, 2019 ; Longo et al, 2021 ). With the development of quantitative ultrasound, its relationship with EIM is playing an increasing important role in improving disease diagnosis ( Rutkove et al, 2014b ; Shklyar et al, 2015 ; Hobson-Webb et al, 2018 , 2021 ; Roy et al, 2019 ). Shklyar et al (2015) reported that composite data from EIM and quantitative ultrasound can better predict the muscle function compared with individual measurement data.…”