Exercise testing-based algorithms to diagnose McArdle disease and MAD defects

Acta Neurologica Scandinavica
J-B NouryFabrice Rannou

Abstract

As exercise intolerance and exercise-induced myalgia are commonly encountered in metabolic myopathies, functional screening tests are commonly used during the diagnostic work-up. Our objective was to evaluate the accuracy of isometric handgrip test (IHT) and progressive cycle ergometer test (PCET) to identify McArdle disease and myoadenylate deaminase (MAD) deficiency and to propose diagnostic algorithms using exercise-induced lactate and ammonia variations. A prospective sample of 46 patients underwent an IHT and a PCET as part of their exercise-induced myalgia and intolerance evaluation. The two diagnostics tests were compared against the results of muscle biopsy and/or the presence of mutations in PYGM. A total of 6 patients had McArdle disease, 5 a complete MAD deficiency (MAD absent), 12 a partial MAD deficiency, and 23 patients had normal muscle biopsy and acylcarnitine profile (disease control). The two functional tests could diagnose all McArdle patients with statistical significance, combining a low lactate variation (IHT: <1 mmol/L, AUC = 0.963, P < .0001; PCET: <1 mmol/L, AUC = 0.990, P < .0001) and a large ammonia variation (IHT: >100 μmol/L, AUC = 0.944, P = .0005; PCET: >20 μmol/L, AUC = 1). PCET was superior to I...Continue Reading

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Citations

May 31, 2020·Scientific Reports·Jean-Baptiste NouryFabrice Rannou
Jul 8, 2018·Essays in Biochemistry·Sara Boenzi, Daria Diodato
Nov 27, 2021·Expert Review of Cardiovascular Therapy·Gabriela Barroso de Queiroz DavoliTim Takken

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