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A multi-parametric protocol to study exercise intolerance in McArdle's disease.

Giulia Ricci1, Federica Bertolucci1, Annalisa Logerfo1

  • 1Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.

Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology
|May 21, 2016
PubMed
Summary

McArdle's disease patients show impaired muscle metabolism and exercise intolerance. A multi-parametric protocol effectively identified these issues and the "second wind" phenomenon, but dietary changes did not alter muscle metabolic response during exercise.

Keywords:
McArdle diseasemuscle exercisemyophosphorylase deficiency

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Area of Science:

  • Biochemistry
  • Exercise Physiology
  • Neuromuscular Disorders

Background:

  • McArdle's disease is a common metabolic myopathy caused by myophosphorylase deficiency, impairing muscle glycogen breakdown.
  • Clinical symptoms include exercise intolerance, cramps, pain, myoglobinuria, and the characteristic
  • The
  • second wind
  • phenomenon, an improvement in exercise tolerance after ~8 minutes, linked to increased glucose and fatty acid availability.

Purpose of the Study:

  • To evaluate a multi-parametric protocol for detecting muscular metabolism and motor performance impairments in McArdle's disease.
  • To assess the impact of a specific dietary intervention on these parameters.

Main Methods:

  • Enrolled 5 patients with McArdle's disease and 5 healthy controls.
  • Utilized an electronic armband for physical activity monitoring.
  • Conducted cardiopulmonary exercise tests with surface electromyography to analyze metabolic and fatigue responses.
  • Measured blood lactate and oxidative stress biomarkers at rest and during exercise.
  • Patients underwent testing at baseline and after a 3-day carbohydrate-rich diet with supplements.

Main Results:

  • The multi-parametric protocol successfully identified impaired oxidative capacity and the
  • second wind
  • phenomenon in patients.
  • No significant differences in muscle metabolic response during exercise were observed after the dietary intervention.

Conclusions:

  • The developed multi-parametric protocol is effective for assessing metabolic and performance deficits in McArdle's disease.
  • The study highlights the utility of this protocol in characterizing the disease's impact on muscle function.
  • The tested dietary regimen did not yield significant improvements in muscle metabolic response during exercise in the short term.