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Skeletal muscle magnetic resonance imaging in Pompe disease
Author(s) -
DíazManera Jordi,
Walter Glenn,
Straub Volker
Publication year - 2021
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.27099
Subject(s) - enzyme replacement therapy , magnetic resonance imaging , medicine , glycogen storage disease type ii , disease , skeletal muscle , muscle weakness , muscle disease , diffusion mri , radiology
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.