Differential diagnosis of Late Onset Pompe Disease (LOPD) and myotonic dystrophy type 1 through abdominal ultrasonography

 Study objective and method

1. Compare ultrasonography images
2. In patients with LOPD (n=3), DM1 (n=10), and age- and gender-matched healthy subjects (n=34)
3. Muscle thickness and echogenicity were assessed

Results

Qualitative echogenicity in muscular ultrasonography

The variable severity and distribution of qualitative echogenicity (Z scores) in skeletal muscles of patients with LOPD and DM1

Quantitative echogenicity and abdominal muscle thickness in muscular ultrasonography

Quantitative muscle echogenicity

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