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

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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… Click to show full 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.

Keywords: mcardle disease; based algorithms; exercise testing; exercise; testing based

Journal Title: Acta Neurologica Scandinavica
Year Published: 2018

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