Pompe disease is characterized by a deficiency of acid alpha-glucosidase that results in muscle weakness and a variable degree of disability. There is an approved therapy based on enzymatic replacement that has modified disease progression. Several reports describing muscle magnetic resonance imaging (MRI) features of Pompe patients have been published. Most of the studies have focused on late-onset Pompe disease (LOPD) and identified a characteristic pattern of muscle involvement useful for the diagnosis. In addition, quantitative MRI studies have shown a progressive increase in fat in skeletal muscles of LOPD over time and they are increasingly considered a good tool to monitor progression of the disease. The studies performed in infantile-onset Pompe disease patients have shown less consistent changes. Other more sophisticated muscle MRI sequences, such as diffusion tensor imaging or glycogen spectroscopy, have also been used in Pompe patients and have shown promising results.
Keywords: Pompe disease; acid maltase; glycogenosis; muscle MRI; skeletal muscle.
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