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. 2011 Dec 7;2011(12):CD007931.
doi: 10.1002/14651858.CD007931.pub2.

Physical training for McArdle disease

Affiliations

Physical training for McArdle disease

Rosaline Quinlivan et al. Cochrane Database Syst Rev. .

Abstract

Background: McArdle disease is a rare metabolic myopathy caused by a complete absence of the enzyme muscle glycogen phosphorylase. Affected people experience symptoms of fatigue and cramping within minutes of exercise and are at risk for acute muscle injury (rhabdomyolysis) and acute renal failure. If the first few minutes of exercise are paced, a 'second wind' will occur enabling exercise to continue. This is due to mobilisation and utilisation of alternative fuel substrates. Aerobic training appears to improve work capacity by increasing cardiovascular fitness.

Objectives: To assess the effects of aerobic training in people with McArdle disease.

Search methods: We searched the Cochrane Neuromuscular Disease Group Specialized Register (11 January 2011), CENTRAL (2010, Issue 4), MEDLINE (January 1966 to January 2011) and EMBASE (January 1980 to January 2011).

Selection criteria: All randomised and quasi-randomised controlled studies of aerobic exercise training in people of all ages with McArdle disease.

Data collection and analysis: Two authors identified possible studies for inclusion and assessed their methodological quality. Had more than one study of sufficient methodological quality been identified we would have undertaken a meta-analysis.

Main results: There were no randomised or quasi-randomised controlled trials of aerobic training in people with McArdle disease. However, three open studies using small numbers of participants provided some evidence that aerobic training improves fitness without adverse events in people with McArdle disease.

Authors' conclusions: Evidence from non-randomised studies using small numbers of patients suggest that it would be safe and worthwhile for larger controlled trials of aerobic training to be undertaken in people with McArdle disease.

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Conflict of interest statement

Dr Buckley's salary has in part been funded by the Association for Glycogen Storage Diseases. He has no known conflicts of interest.

Dr Hilton‐Jones received a fee for taking part in a debate on neonatal screening for Pompe's disease at the 2010 International Pompe's Conference, supported by Genzyme.

Dr Quinlivan has received an honorarium from Genzyme for lecturing on McArdle disease.

Dr Vissing is member of the Global Advisory Board for Pompe's disease for Genzyme. He has received consultancy fees from Lundbeck concerning drugs for Duchenne Muscular dystrophy. He is in receipt of many research grants, none of which have any relation to this published work.

Update of

  • doi: 10.1002/14651858.CD007931

References

References to studies excluded from this review

Haller 2006 {published data only}
    1. Haller RG, Wyrick P, Taivassalo T, Vissing J. Aerobic conditioning: an effective therapy in McArdle's disease. Annals of Neurology 2006;59:922‐8. [PUBMED: 17085458] - PubMed
Maté‐Muñoz 2007 {published data only}
    1. Maté‐Muñoz JL, Moran M, Pérez M, Chamorro‐Vina C, Gomez‐Gallego F, Santiago C, et al. Favourable responses to acute and chronic exercise in McArdle patients. Clinical Journal of Sports Medicine 2007;17(4):297‐303. [PUBMED: 17620784] - PubMed
Ollivier 2005b {published data only}
    1. Ollivier K, Hogrel JY, Gomez‐Merino D, et al. Effects of an endurance training on patients with McArdle disease. Science and Sports 2005;29:21‐6.

Additional references

Andersen 2008
    1. Andersen ST, Vissing J. Carbohydrate‐ and protein‐rich diets in McArdle disease: effects on exercise capacity. Journal of Neurology, Neurosurgery and Psychiatry 2008;79(12):1359‐63. [PUBMED: 19010947] - PubMed
Andreu 2007
    1. Andreu AL, Nogales‐Gadea G, Cassandrini D, Arenas J, Bruno C. McArdle disease: molecular genetic update. Acta Myologica 2007;26(1):53‐7. [PUBMED: 17915571] - PMC - PubMed
Aquaron 2007
    1. Aquaron R, Berge‐Lefranc JL, Pellissier JF, Montfort MF, Mayan M, Figarella‐Branger D, et al. Molecular characterisation of myophosphorylase deficiency (McArdle disease) in 34 patients from Southern France: identification of 10 new mutations. Absence of genotype‐phenotype correlation. Neuromuscular Disorders 2007;17(3):235‐41. [PUBMED: 17324573] - PubMed
Bartram 1993
    1. Bartram C, Edwards RH, Clague J, Beynon RJ. McArdle's disease: a nonsense mutation in exon 1 of the muscle glycogen phosphorylase gene explains some but not all cases. Human Molecular Genetics 1993;2(8):1291‐3. [PUBMED: 8401511] - PubMed
Borg 1998
    1. Borg G. Borg's perceived exertion and pain scales. Champaign, IL: Human Kinetics, 1998.
De Stefano 1996
    1. Stefano N, Argov Z, Matthews PM, Karparti G, Arnold DL. Impairment of muscle mitochondrial oxidative metabolism in McArdle's Disease. Muscle & Nerve 1996;19(6):764‐9. [PUBMED: 8609928] - PubMed
Deschauer 2007
    1. Deschauer M, Morgenroth A, Joshi PR, Glaser D, Chinnery PF, Aasly J, et al. Analysis of spectrum and frequencies of mutations in McArdle Disease. Identification of 13 novel mutations. Journal of Neurology 2007;254(6):797‐802. [PUBMED: 17404776] - PubMed
Gomez‐Gallego 2008
    1. Gomez‐Gallego F, Santiago C, Morán M, Pérez M, Maté‐Muñoz JL, Fernandez Del Valle M, et al. The I allele of the ACE gene is associated with improved exercise capacity in women with McArdle disease. British Journal of Sports Medicine 2008;42(2):134‐40. [PUBMED: 17616548] - PubMed
Haller 1985
    1. Haller RG, Lewis SF, Cook JD, Bloomvist CG. Myophosphorylase activity impairs muscle oxidative metabolism. Annals of Neurology 1985;17(2):196‐9. [PUBMED: 3856415] - PubMed
Higgins 2008
    1. Higgins JPT, Altman DG (editors). Chapter 8: Assessing risk of bias in included studies. Higgins JPT, Green S (editors) Cochrane Handbook for Systematic Reviews of Interventions. John Wiley & Sons, 2008.
Lucia 2007
    1. Lucia A, Gomez‐Gallego F, Santiago C, Pérez M, Maté‐Muñoz JL, Chamorro‐Vina C, et al. The 577X allele of the ACTN3 gene is associated with improved exercise capacity in women with McArdle's disease. Neuromuscular Disorders 2007;17(8):603‐10. [PUBMED: 17560787] - PubMed
Martinuzzi 2003
    1. Martinuzzi A, Sartori E, Fanin M, Nascimbeni A, Valente L, Angelini C, et al. Phenotype modulators in myophosphorylase deficiency. Annals of Neurology 2003;53(4):497‐502. [PUBMED: 12666117] - PubMed
Ollivier 2005a
    1. Ollivier K, Hogrel JY, Gomez‐Merino D, Romero NB, Laforet P, Eymard B, et al. Exercise tolerance and daily life in McArdle's disease. Muscle & Nerve 2005;31(5):637‐41. [PUBMED: 15614801] - PubMed
Quinlivan 2007
    1. Quinlivan R, Vissing J. 144th ENMC International Workshop: Outcome Measures in McArdle Disease, 29 September‐1 November 2006, Naarden, The Netherlands. Neuromuscular Disorders 2007;17(6):494‐8. [PUBMED: 17490880] - PubMed
Quinlivan 2010a
    1. Quinlivan R, Martinuzzi A, Schoser B. Pharmacological and nutritional treatment for McArdle disease (Glycogen Storage Disease type V). Cochrane Database of Systematic Reviews 2010, Issue 12. [DOI: 10.1002/14651858.CD003458.pub4] - DOI - PubMed
Quinlivan 2010b
    1. Quinlivan R, Buckley J, James M, Twist A, Ball S, Duno M, et al. McArdle disease: a clinical review. Journal of Neurology, Neurosurgery & Psychiatry 2010;81(11):1182‐8. [PUBMED: 20861058] - PubMed
Rubio 2007
    1. Rubio JC, Gomez‐Gallego F, Santiago C, Garcia‐Consuegra I, Pérez M, Barriopedro MI, et al. Genotype modulators of clinical severity in McArdle disease. Neuroscience Letters 2007;422(3):217‐22. [PUBMED: 17630210] - PubMed
Vissing 1998
    1. Vissing J, Vissing SF, MacLean D, Saltin B, Quistorff B, Haller RJ. Sympathetic activation in exercise is not dependent on muscle acidosis. Direct evidence from studies in metabolic myopathies. Journal of Clinical Investigation 1998;101(8):1654‐60. [PUBMED: 9541495] - PMC - PubMed
Vissing 2003a
    1. Vissing J, Haller RG. The effect of oral sucrose on exercise tolerance in patients with McArdle's disease. New England Journal of Medicine 2003;349(26):2503‐9. [PUBMED: 14695410] - PubMed
Vissing 2009
    1. Vissing J, Duno M, Schwartz M, Haller RG. Splice mutations preserve myophosphorylase activity that ameliorates the phenotype in McArdle Disease. Brain 2009;132(Pt 6):1545‐52. [PUBMED: 19433441] - PubMed
Ørngreen 2009
    1. Ørngreen MC, Jeppesen TD, Andersen ST, Taivassalo T, Hauerslev S, Preisler N, et al. Fat metabolism during exercise in patients with McArdle disease. Neurology 2009;72(8):718‐24. [PUBMED: 19237700] - PubMed

References to other published versions of this review

Vissing 2003b
    1. Vissing J, Haller RG. A diagnostic cycle test for McArdle's disease. Annals of Neurology 2003;54:539‐42. - PubMed

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