This purpose of this study is to determine if tongue strength and tongue ultrasound measurements differentiates patients with untreated late-onset Pompe Disease (LOPD) from patients with acquires/hereditary myopathies or neuropathies. It is hypothesized that abnormalities in tongue function and structure in patients with LOPD may be useful in discriminating this condition from others that have similar presentations.
Study Type
OBSERVATIONAL
Enrollment
73
The following exams will be done in all cohorts: tongue manual muscle testing (MMT), tongue quantitative muscle testing, tongue ultrasound measurements
Duke University Medical Center
Durham, North Carolina, United States
Maximal lingual (tongue) strength measured via manual muscle testing (MMT) measured via ordinal scale (see description)
Lingual strength will be rated with a validated 0-4 ordinal scale. Score Description 0 - Normal strength, no weakness. 1. \- Mild weakness. The tongue can be overcome with effort. 2. \- Moderate weakness. Easy to overcome. 3. \- Minimal movement. Unable to protrude to either side. 4. \- No movement detected.
Time frame: Day 1
Maximal lingual (tongue) strength measured via quantitative muscle testing (QMT) measured in kilopascals (KPA)
Time frame: Day 1
Maximal muscle thickness measured with ultrasound assessment in millimeters (mm)
Comprises part of assessment of lingual (tongue) structure via qualitative tongue ultrasound assessment. On-screen calipers will be used to perform measurement.
Time frame: Day 1
Echo intensity measured with ultrasound assessment utilizing grayscale analysis
Comprises part of assessment of lingual (tongue) structure via qualitative tongue ultrasound assessment. Echo intensity measurements consist of drawing a box over subcutaneous tissue and muscle areas of interest using the grayscale histogram function. This number will be recorded along with the standard deviation (grayscale analysis).
Time frame: Day 1
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