Differential diagnosis of Late Onset Pompe Disease (LOPD) and myotonic dystrophy type 1 through abdominal ultrasonography
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Study objective and method
- Compare ultrasonography images
- In patients with LOPD (n=3), DM1 (n=10), and age- and gender-matched healthy subjects (n=34)
- Muscle thickness and echogenicity were assessed
Results
Qualitative echogenicity in muscular ultrasonography
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The variable severity and distribution of qualitative echogenicity (Z scores) in skeletal muscles of patients with LOPD and DM1
Qualitative echogenicity in skeletal muscles:
- Abnormal in the abdominal muscles
- Mildly abnormal in rectus femoris and anterior tibialis muscles
Z Score | ||
Normal | <2 | |
Mild | 2-4 | |
Moderate | >4 | |
Severe | >6 |
Qualitative echogenicity in skeletal muscles:
- Abnormal in abdominal muscles and more obvious in biceps, TA, and FDS/FDP
Quantitative echogenicity and abdominal muscle thickness in muscular ultrasonography
Quantitative muscle echogenicity
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Quantitative muscle echogenicity
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Trunk muscle thickness
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Total trunk grading sum score
Conclusion
These findings suggest that muscle ultrasound is an efficient screening tool for:
- Assessing myopathic changes and disease-specific patterns
- Differential diagnosis of neuromuscular diseases
- Trunk muscles can be used for the differential diagnosis of LOPD and DM1.
- Muscle echography results correlated with clinical and motor functions.
- TIS can be used to investigate the trunk function
Abbreviations
DM1: Myotonic dystrophy type 1; EO: External oblique; FDP: Flexor digitorum profundus; FDS: Flexor digitorum superficialis; IO: Internal oblique; LOPD: Late-onset Pompe disease; RA: Rectus abdominis; TA: Tibialis anterior; TIS: Trunk impairment scale; TrA: Transversus abdominis.
Reference
- Hsieh PC, Chang CW, Ro LS, et al. Ultrasonography of abdominal muscles: Differential diagnosis of late-onset Pompe disease and myotonic dystrophy type 1. Front Neurol. 2022;13:944464.