Skeletal muscle magnetic resonance imaging in Pompe disease

Area of Science:

• Neurology
• Medical Imaging
• Genetics

Background:

• Pompe disease results from acid alpha-glucosidase deficiency, leading to muscle weakness.
• Enzyme replacement therapy is available and impacts disease progression.
• Muscle MRI findings in Pompe disease, particularly late-onset Pompe disease (LOPD), are increasingly documented.

Purpose of the Study:

• To review the utility of muscle MRI in diagnosing and monitoring Pompe disease.
• To highlight characteristic MRI patterns in LOPD.
• To discuss advanced MRI techniques in Pompe disease assessment.

Main Methods:

• Review of published literature on muscle MRI in Pompe disease patients.
• Analysis of characteristic muscle involvement patterns in LOPD.
• Evaluation of quantitative MRI for tracking fat infiltration over time.
• Inclusion of studies using advanced MRI sequences like diffusion tensor imaging and spectroscopy.

Main Results:

• Muscle MRI reveals a distinct pattern of muscle involvement in LOPD, aiding diagnosis.
• Quantitative MRI demonstrates progressive skeletal muscle fat infiltration in LOPD.
• Advanced MRI techniques show promising results for Pompe disease assessment.

Conclusions:

• Muscle MRI is a valuable tool for diagnosing and monitoring Pompe disease, especially LOPD.
• Quantitative MRI can track disease progression through fat accumulation in muscles.
• Further research into advanced MRI sequences may offer enhanced insights into Pompe disease.