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A 51-Year-Old Woman with Long-Standing Exercise Intolerance

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Abstract

McArdle disease is a glycogen storage myopathy which is caused by mutations in thePYGM gene with resultant myophosphorylase deficiency. Patients with McArdle disease typically present with exercise intolerance and recurrent rhabdomyolysis. These patients may also manifest fixed proximal limb weakness and persistent CK elevation. Muscle biopsy is useful to differentiate McArdle disease from other metabolic myopathies, such as other glycogen storage myopathies, lipid storage myopathies, and mitochondrial myopathies, to direct genetic testing. Here we present a patient with McArdle disease who was initially misdiagnosed with inflammatory myopathy and was unnecessarily exposed to immunosuppressive therapies. A correct diagnosis was achieved by a muscle biopsy, which led to appropriate management.

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References

  1. Schmid R, Mahler R. Chronic progressive myopathy with myoglobinuria: demonstration of a glycogenolytic defect in the muscle. J Clin Invest. 1959;38:2044–58.

    Article CAS  Google Scholar 

  2. Haller RG. Treatment of McArdle disease. Arch Neurol. 2000;57(7):923–4.

    Article CAS  Google Scholar 

  3. Lucia A, Ruiz JR, Santalla A, Nogales-Gadea G, Rubio JC, Garcia-Consuegra I, et al. Genotypic and phenotypic features of McArdle disease: insights from the Spanish national registry. J Neurol Neurosurg Psychiatry. 2012;83(3):322–8.

    Article  Google Scholar 

  4. Nadaj-Pakleza AA, Vincitorio CM, Laforet P, Eymard B, Dion E, Teijeira S, et al. Permanent muscle weakness in McArdle disease. Muscle Nerve. 2009;40(3):350–7.

    Article  Google Scholar 

  5. Scalco RS, Morrow JM, Booth S, Chatfield S, Godfrey R, Quinlivan R. Misdiagnosis is an important factor for diagnostic delay in McArdle disease. Neuromuscul Disord. 2017;27(9):852–5.

    Article  Google Scholar 

  6. Vissing J, Haller RG. A diagnostic cycle test for McArdle’s disease. Ann Neurol. 2003;54(4):539–42.

    Article  Google Scholar 

  7. Buckley JP, Quinlivan RM, Sim J, Eston RG, Short DS. Heart rate and perceived muscle pain responses to a functional walking test in McArdle disease. J Sports Sci. 2014;32(16):1561–9.

    Article  Google Scholar 

  8. Nogales-Gadea G, Brull A, Santalla A, Andreu AL, Arenas J, Martin MA, et al. McArdle disease: update of reported mutations and polymorphisms in the PYGM gene. Hum Mutat. 2015;36(7):669–78.

    Article CAS  Google Scholar 

  9. Aquaron R, Berge-Lefranc JL, Pellissier JF, Montfort MF, Mayan M, Figarella-Branger D, et al. Molecular characterization of myophosphorylase deficiency (McArdle disease) in 34 patients from Southern France: identification of 10 new mutations. Absence of genotype-phenotype correlation. Neuromuscul Disord. 2007;17(3):235–41.

    Article  Google Scholar 

  10. Bruno C, Cassandrini D, Martinuzzi A, Toscano A, Moggio M, Morandi L, et al. McArdle disease: the mutation spectrum of PYGM in a large Italian cohort. Hum Mutat. 2006;27(7):718.

    Article  Google Scholar 

  11. 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. J Neurol. 2007;254(6):797–802.

    Article CAS  Google Scholar 

  12. Martin MA, Rubio JC, Buchbinder J, Fernandez-Hojas R, del Hoyo P, Teijeira S, et al. Molecular heterogeneity of myophosphorylase deficiency (McArdle’s disease): a genotype-phenotype correlation study. Ann Neurol. 2001;50(5):574–81.

    Article CAS  Google Scholar 

  13. Vieitez I, Teijeira S, Fernandez JM, San Millan B, Miranda S, Ortolano S, et al. Molecular and clinical study of McArdle’s disease in a cohort of 123 European patients. Identification of 20 novel mutations. Neuromuscul Disord. 2011;21(12):817–23.

    Article  Google Scholar 

  14. Santalla A, Nogales-Gadea G, Encinar AB, Vieitez I, Gonzalez-Quintana A, Serrano-Lorenzo P, et al. Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update. BMC Genomics. 2017;18(Suppl 8):819.

    Article  Google Scholar 

  15. Dubowitz V, Sewry CA, Oldfors A. Metablic myopathies I: glycogenoses and lysosomal myopathies. In: Muscle biopsy: a practical approach. 4th ed. Oxford: Saunders Elsevier; 2013. p. 423–45.

    Google Scholar 

  16. Henning F, Cunninghame CA, Martin MA, Rubio JC, Arenas J, Lucia A, et al. Muscle fiber type proportion and size is not altered in mcardle disease. Muscle Nerve. 2017;55(6):916–8.

    Article CAS  Google Scholar 

  17. Haller RG, Wyrick P, Taivassalo T, Vissing J. Aerobic conditioning: an effective therapy in McArdle’s disease. Ann Neurol. 2006;59(6):922–8.

    Article  Google Scholar 

  18. Mate-Munoz JL, Moran M, Perez M, Chamorro-Vina C, Gomez-Gallego F, Santiago C, et al. Favorable responses to acute and chronic exercise in McArdle patients. Clin J Sport Med. 2007;17(4):297–303.

    Article  Google Scholar 

  19. Quinlivan R, Vissing J, Hilton-Jones D, Buckley J. Physical training for McArdle disease. Cochrane Database Syst Rev. 2011;12:CD007931.

    Google Scholar 

  20. 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.

    Article  Google Scholar 

  21. Andersen ST, Vissing J. Carbohydrate- and protein-rich diets in McArdle disease: effects on exercise capacity. J Neurol Neurosurg Psychiatry. 2008;79(12):1359–63.

    Article CAS  Google Scholar 

  22. Perez M, Mate-Munoz JL, Foster C, Rubio JC, Andreu AL, Martin MA, et al. Exercise capacity in a child with McArdle disease. J Child Neurol. 2007;22(7):880–2.

    Article  Google Scholar 

  23. Vissing J, Haller RG. The effect of oral sucrose on exercise tolerance in patients with McArdle’s disease. N Engl J Med. 2003;349(26):2503–9.

    Article CAS  Google Scholar 

  24. Amato AA. Sweet success—a treatment for McArdle’s disease. N Engl J Med. 2003;349(26):2481–2.

    Article CAS  Google Scholar 

  25. Nogales-Gadea G, Santalla A, Ballester-Lopez A, Arenas J, Martin MA, Godfrey R, et al. Exercise and preexercise nutrition as treatment for McArdle disease. Med Sci Sports Exerc. 2016;48(4):673–9.

    Article  Google Scholar 

  26. Quinlivan R, Beynon RJ, Martinuzzi A. Pharmacological and nutritional treatment for McArdle disease (Glycogen Storage Disease type V). Cochrane Database Syst Rev. 2008;2:CD003458.

    Google Scholar 

  27. Vorgerd M, Grehl T, Jager M, Muller K, Freitag G, Patzold T, et al. Creatine therapy in myophosphorylase deficiency (McArdle disease): a placebo-controlled crossover trial. Arch Neurol. 2000;57(7):956–63.

    Article CAS  Google Scholar 

  28. Vorgerd M, Zange J, Kley R, Grehl T, Husing A, Jager M, et al. Effect of high-dose creatine therapy on symptoms of exercise intolerance in McArdle disease: double-blind, placebo-controlled crossover study. Arch Neurol. 2002;59(1):97–101.

    Article  Google Scholar 

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Author information

Authors and Affiliations

  1. Departments of Neurology and Pathology, Boston University Medical Center, Boston, MA, USA

    Lan Zhou

Authors
  1. Lan Zhou

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Correspondence toLan Zhou.

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Editors and Affiliations

  1. Departments of Neurology and Pathology, Boston University Medical Center, Boston, MA, USA

    Lan Zhou

  2. Department of Pathology, Neuropathology Section, University of Texas Southwestern Medical Center, Dallas, TX, USA

    Dennis K. Burns

  3. Department of Pathology, University of Texas Southwestern Medical Center, Dallas, TX, USA

    Chunyu Cai

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Zhou, L. (2020). A 51-Year-Old Woman with Long-Standing Exercise Intolerance. In: Zhou, L., Burns, D., Cai, C. (eds) A Case-Based Guide to Neuromuscular Pathology. Springer, Cham. https://doi.org/10.1007/978-3-030-25682-1_13

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Chapter
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