INVITED REVIEW
Skeletal muscle magnetic resonance imaging in Pompe disease
Jordi Díaz-Manera MD, PhD,
Glenn Walter MD, PhD,
Volker Straub MD, PhD,
Corresponding Author
Jordi Díaz-Manera MD, PhD
John Walton Muscular Dystrophy Research Center, Newcastle University Translational and Clinical Research Institute, Newcastle upon Tyne, UK
Neuromuscular Disorders Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain
Centro de Investigación Biomédica en Enfermedades Raras, Barcelona, Spain
Correspondence
Jordi Díaz-Manera, John Walton Muscular Dystrophy Research Center, Newcastle University Translational and Clinical Research Institute, Center for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.
Email: [email protected]
Search for more papers by this authorGlenn Walter MD, PhD
Department of Physiology and Functional Genomics, University of Florida, Gainesville, Florida, USA
Search for more papers by this authorVolker Straub MD, PhD
John Walton Muscular Dystrophy Research Center, Newcastle University Translational and Clinical Research Institute, Newcastle upon Tyne, UK
Search for more papers by this authorJordi Díaz-Manera MD, PhD,
Glenn Walter MD, PhD,
Volker Straub MD, PhD,
Corresponding Author
Jordi Díaz-Manera MD, PhD
John Walton Muscular Dystrophy Research Center, Newcastle University Translational and Clinical Research Institute, Newcastle upon Tyne, UK
Neuromuscular Disorders Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain
Centro de Investigación Biomédica en Enfermedades Raras, Barcelona, Spain
Correspondence
Jordi Díaz-Manera, John Walton Muscular Dystrophy Research Center, Newcastle University Translational and Clinical Research Institute, Center for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.
Email: [email protected]
Search for more papers by this authorGlenn Walter MD, PhD
Department of Physiology and Functional Genomics, University of Florida, Gainesville, Florida, USA
Search for more papers by this authorVolker Straub MD, PhD
John Walton Muscular Dystrophy Research Center, Newcastle University Translational and Clinical Research Institute, Newcastle upon Tyne, UK
Search for more papers by this authorThe objectives of this activity are to: 1) Understand the role of muscle MRI in the evaluation and longitudinal follow-up of patients with Pompe disease and be able to order it appropriately in practice; 2) be able to interpret fatty replacement of muscle in T1w MRI sequences in patients with Pompe disease; 2) Understand and interpret T2, STIR, and GlycoCEST MRI sequences in patients with Pompe disease to follow disease progression.
Funding information: Spanish Ministry of Health, Fondos FEDER-ISCIII, Grant/Award Number: PI18/01525 to Prof. Jordi Díaz-Manera
Abstract
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.
10 CONFLICT OF INTEREST
J.D.-M. and V.S. received investigational grants from Sanofi-Genzyme and have participated in advisory boards organized by Sanofi-Genzyme and Audentes.
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