Treatment of McArdle Disease
- 1 July 2000
- journal article
- editorial
- Published by American Medical Association (AMA) in Archives of Neurology
- Vol. 57 (7), 923-924
- https://doi.org/10.1001/archneur.57.7.923
Abstract
WE ARE approaching the 50th anniversary of the classical description by Brian McArdle1 of the metabolic myopathy that bears his name. It was recognized 40 years ago that the symptoms of McArdle disease—exertional muscle fatigue, pain, cramps (contractures), and myoglobinuria—were due to deficiency of the muscle form of glycogen phosphorylase, and thus were related specifically to the unavailability of muscle glycogen as a source of energy for muscle contraction.2,3 In the last few years, understanding of the molecular pathogenesis of McArdle disease has advanced with the description of approximately 20 different mutations in the phosphorylase gene on chromosome 11.4 However, treatment of McArdle disease has lagged and remains an important clinical challenge.Keywords
This publication has 8 references indexed in Scilit:
- Creatine monohydrate increases strength in patients with neuromuscular diseaseNeurology, 1999
- Reduced levels of skeletal muscle Na + K + -ATPase in McArdle diseaseNeurology, 1998
- A randomized, controlled trial of creatine monohydrate in patients with mitochondrial cytopathiesMuscle & Nerve, 1997
- The influence of dietary creatine supplementation on performance during repeated bouts of maximal isokinetic cycling in manEuropean Journal of Applied Physiology, 1994
- Elevation of creatine in resting and exercised muscle of normal subjects by creatine supplementationClinical Science, 1992
- Effect of deficient muscular glycogenolysis on extramuscular fuel production in exerciseJournal of Applied Physiology, 1992
- CHRONIC PROGRESSIVE MYOPATHY WITH MYOGLOBINURIA: DEMONSTRATION OF A GLYCOGENOLYTIC DEFECT IN THE MUSCLE*JCI Insight, 1959
- A FUNCTIONAL DISORDER OF MUSCLE ASSOCIATED WITH THE ABSENCE OF PHOSPHORYLASEProceedings of the National Academy of Sciences, 1959