Whole-body muscle MRI in McArdle disease

• Published in: Neuromuscular disorders : NMD Vol. 32; no. 1; pp. 5 - 14
• Main Authors: Tobaly, David, Laforêt, Pascal, Stojkovic, Tanya, Behin, Anthony, Petit, Francois Michael, Barp, Andrea, Bello, Luca, Carlier, Pierre, Carlier, Robert-Yves
• Format: Journal Article
• Language: English
• Published: England Elsevier B.V 01.01.2022
• Subjects: Adult; Aged; Aged, 80 and over; Exercise; Female; Glycogen Storage Disease Type V - diagnostic imaging; Humans; Magnetic Resonance Imaging - methods; Male; Middle Aged; Muscle Weakness; Muscle, Skeletal - diagnostic imaging; Rhabdomyolysis - diagnostic imaging; Thigh - diagnostic imaging; Whole Body Imaging - methods
• ISSN: 0960-8966; 1873-2364; 1873-2364
• DOI: 10.1016/j.nmd.2021.07.397

• Distribution of muscles involvement helps in directing the diagnosis towards a myopathy.• The main relevant clinical data was the correlation between age and disease severity.• A general symmetrical muscle alteration was noticed except for the subscapularis.• Subscapularis, anterior serratus and quadratus femoris muscles were mainly involved. This study describes muscle involvement on whole-body MRI (WB-MRI) scans at different stages of McArdle disease. WB-MRI was performed on fifteen genetically confirmed McArdle disease patients between ages 25 to 80. The degree of fatty substitution was scored for 60 muscles using Mercuri's classification. All patients reported an intolerance to exercise and episodes of rhabdomyolysis. A mild fixed muscle weakness was observed in 13/15 patients with neck flexor weakness in 7/15 cases, and proximal muscle weakness in 6/15 cases. A moderate scapular winging was observed in five patients. A careful review of the MRI scans, as well as hierarchical clustering of patients by Mercuri scores, pointed out recurrent muscle changes particularly in the subscapularis, anterior serratus, erector spinae and quadratus femoris muscles. WB-MRI imaging provides clinically relevant information and is a useful tool to orient toward the diagnosis of McArdle disease.