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

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.

Duke Scholars

Author Lisa Deneen Hobson-Webb Neurology, Neuromuscular Disease

Author Shruti Mukund Raja Neurology, Neuromuscular Disease

Author Priya Sunil Kishnani Pediatrics, Medical Genetics