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Related Experiment Video

Updated: Feb 10, 2026

Conducting Maximal and Submaximal Endurance Exercise Testing to Measure Physiological and Biological Responses to Acute Exercise in Humans
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Exercise testing-based algorithms to diagnose McArdle disease and MAD defects.

J-B Noury1, F Zagnoli1, J-L Carré2

  • 1Neurology Department, CHRU Cavale Blanche, Brest, France.

Acta Neurologica Scandinavica
|May 12, 2018
PubMed
Summary
This summary is machine-generated.

Functional exercise tests accurately identify metabolic myopathies like McArdle disease and myoadenylate deaminase deficiency. Progressive cycle ergometer testing (PCET) shows higher accuracy than isometric handgrip testing (IHT) for diagnosing these conditions.

Keywords:
McArdle diseasediagnostic algorithmexercise intoleranceisometric handgrip testmyoadenylate deaminase deficiencyprogressive cycle ergometer test

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Area of Science:

  • Exercise physiology
  • Clinical diagnostics
  • Metabolic myopathies

Background:

  • Exercise intolerance and myalgia are common in metabolic myopathies.
  • Functional screening tests aid in diagnosing these conditions.
  • McArdle disease and myoadenylate deaminase deficiency are key metabolic myopathies.

Purpose of the Study:

  • To evaluate the diagnostic accuracy of isometric handgrip test (IHT) and progressive cycle ergometer test (PCET).
  • To identify McArdle disease and myoadenylate deaminase (MAD) deficiency.
  • To propose diagnostic algorithms based on exercise-induced lactate and ammonia variations.

Main Methods:

  • Prospective study of 46 patients with exercise-induced myalgia and intolerance.
  • Comparison of IHT and PCET against muscle biopsy and/or PYGM mutation analysis.
  • Categorization of patients into McArdle disease, complete MAD deficiency, partial MAD deficiency, and disease control groups.

Main Results:

  • Both IHT and PCET accurately diagnosed McArdle disease using lactate and ammonia variations.
  • PCET demonstrated superior accuracy for diagnosing complete MAD deficiency.
  • Specific lactate and ammonia thresholds were identified for each condition and test.

Conclusions:

  • PCET-based algorithms are more accurate than IHT for diagnosing metabolic myopathies.
  • IHT and PCET are valuable tools for identifying McArdle disease.
  • PCET is more effective for diagnosing complete MAD deficiency.