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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

MR imaging as a potential diagnostic test for metabolic myopathies: importance of variations in the T2 of muscle with exercise.

OBJECTIVE. Most metabolic myopathies (like glycogenoses and mitochondrial myopathies) are related to inborn errors of muscle energy metabolism and often present clinically as exercise intolerance (inability to sustain normal exercise). We investigated whether the previously observed absence of normal exercise-induced variation in the T2 of muscle in McArdle's disease (a metabolic myopathy caused by muscle phosphorylase deficiency) was specific for this disease and whether the variations in T2 could be used for screening patients suspected of having metabolic myopathy. SUBJECTS AND METHODS. Exercise-induced variations in proton MR signal and in intracellular pH were studied in the forearm flexor muscles of nine healthy subjects and 49 patients with exercise intolerance due to muscle pain, suggesting a metabolic myopathy. The relative increase in T2, delta T2/T2, was measured from MR spin-echo images before and after exercise. Phosphocreatine (used as a control of the degree of exercise) and intracellular pH were measured from phosphorus-31 spectra before and during exercise. The progressive 4.5-min handgrip exercise reached maximal exertion capability at the end of exercise and decreased phosphocreatine to less than 50% of its rest value. RESULTS. Variations in T2 and end-exercise pH were correlated. The nine healthy subjects showed a delta T2/T2 ranging from +19% to +44% (but little T1 variation). Ten patients with McArdle's disease showed only slight delta T2/T2 (0-10%). There was no overlap with values for healthy subjects, but there was some with values for other patients. Of the 21 subjects with a delta T2/T2 less than 19%, 19 had a metabolic myopathy. The other two had a congenital neuromuscular disorder (one central core disease, one nemaline myopathy) with type I fiber predominance (type I muscle fibers are characterized by a high oxidative metabolism and a low lactic acid production). CONCLUSION. The altered increase in T2 was sensitive but not specific for McArdle's disease. However, as variations in T2 reflect variations in pH, they seem to be specific for myopathies in which there is little exercise-induced decrease in pH (some metabolic myopathies and congenital neuromuscular disorders with type I fiber predominance) among patients in whom exercise intolerance is the main symptom. Our results suggest that MR imaging might be useful as a screening test for these diseases.[1]


  1. MR imaging as a potential diagnostic test for metabolic myopathies: importance of variations in the T2 of muscle with exercise. Jehenson, P., Leroy-Willig, A., de Kerviler, E., Duboc, D., Syrota, A. AJR. American journal of roentgenology. (1993) [Pubmed]
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