Quantitative muscle ultrasound and electrical impedance myography in late onset Pompe disease: A pilot study of reliability, longitudinal change and correlation with function.
Biomarker
Electrical impedance myography
Late onset
Muscle ultrasound
Neuromuscular ultrasound
Pompe disease
Journal
Molecular genetics and metabolism reports
ISSN: 2214-4269
Titre abrégé: Mol Genet Metab Rep
Pays: United States
ID NLM: 101624422
Informations de publication
Date de publication:
Sep 2021
Sep 2021
Historique:
received:
22
07
2021
accepted:
26
07
2021
entrez:
17
8
2021
pubmed:
18
8
2021
medline:
18
8
2021
Statut:
epublish
Résumé
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. 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. 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. 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.
Sections du résumé
BACKGROUND/OBJECTIVES
OBJECTIVE
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
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
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
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.
Identifiants
pubmed: 34401343
doi: 10.1016/j.ymgmr.2021.100785
pii: S2214-4269(21)00079-3
pmc: PMC8348861
doi:
Types de publication
Journal Article
Langues
eng
Pagination
100785Informations de copyright
© 2021 The Authors. Published by Elsevier Inc.
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