Case Report
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McArdle's disease in a Turkish woman due to an intronic variant of PYGM gene

Year 2019, Volume: 6 Issue: 6, 103 - 108, 30.06.2019

Gülden Diniz Canan Çelik Oğuz Dikbaş Aslıhan Duman Ayşe Feyda Nursal

https://doi.org/10.17546/msd.565927

Abstract





Objective:
Glycogen storage disease type 5, also known as McArdle disease, is a
hereditary disorder with progressive myopathy. It is characterized by onset
of exercise intolerance with premature fatigue and painful muscle cramps in
childhood or adolescence. Temporary myoglobinuria may occur after exercise
due to rhabdomyolysis. Patients may have mild muscle weakness since
childhood. Muscular atrophy with fatty replacement may develop in adult life.
McArdle disease is a relatively benign disease and rarely severe myoglobinuria
can cause acute renal failure as a complication of widespread rhabdomyolysis.
This autosomal recessive disease is caused a homozygous mutation of the PYGM
gene encoding muscle enzyme myophosphorylase C. 


Case:
A 36-year-old woman admitted to the Physical Medicine and Rehabilitation
polyclinic of Giresun University Hospital with a complaint of gradually
increasing progressive weakness and tiredness since 13 years age. CK serum
level has been found to in normal range; even after exercise. The findings
demonstrated myogenic abnormalities on electromyography, multiple
glycogen-containing vacuoles and undetectable muscle myophosphorylase
activity on muscle biopsy. The genetic analysis revealed no pathogenic
mutations in exon regions of PYGM gene. But in sequencing analysis, the
rs71049658, insertion/ deletion variation in intron 17 was determined.
Coenzyme Q10 (CoQ-10) 30mg/day, vitamin B6 250mg/day and L-carnitine 1gr/day
treatment protocol has been applied and after two months the treatment,
clinical improvement has been achieved. 

Conclusion: In this case report, an atypical McArdle case with a diagnostic challenge has been presented. We thought that this polymorphism in the myophosphorylase gene may lead to a severe mosaic alteration in mRNA splicing, including exon skipping, activation of cryptic splice-sites, and exon-intron reorganizations.

Keywords

Mc Ardle Disease Myopathy Myophosphorylase

Supporting Institution

yok

Project Number

yok

Thanks

We gratefully thank to firm “DONE Genetics and Bioinformatic” for their support in genetic analysis of this case

References

  • 1. De Castro M, Johnston J, Biesecker L. Determining the prevalence of Mc Ardle disease from gene frequency by analysis of next-generation sequencing data. Genet Med 2015;17(12):1002-6. doi: 10.1038/gim.2015.9
  • 2. Vissing J, Duno M, Schwartz M, Haller RG. Splice mutations preserve myophosphorylase activity that ameliorates the phenotype in Mc Ardle disease. Brain 2009; 132 (6): 1545–1552.
  • 3. 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.
  • 4. Satoh A, Hirashio S, Arima T, Yamada Y, Irifuku T, Ishibashi H, et al. Novel Asp511Thr mutation in McArdle disease with acute kidney injury caused by rhabdomyolysis. CEN Case Rep 2019 Mar 21. doi: 10.1007/s13730-019-00392-6
  • 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):852-855. doi: 10.1016/j.nmd.2017.04.013.
  • 6. 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. Human mutation 2015; 36(7):669-78.
  • 7. Quinlivan R, Martinuzzi A, Schoser B. Pharmacological and nutritional treatment for McArdle disease (Glycogen Storage Disease type V). The Cochrane database of systematic reviews 2014;11:CD003458.

Year 2019, Volume: 6 Issue: 6, 103 - 108, 30.06.2019

Gülden Diniz Canan Çelik Oğuz Dikbaş Aslıhan Duman Ayşe Feyda Nursal

https://doi.org/10.17546/msd.565927

Abstract

Project Number

yok

References

  • 1. De Castro M, Johnston J, Biesecker L. Determining the prevalence of Mc Ardle disease from gene frequency by analysis of next-generation sequencing data. Genet Med 2015;17(12):1002-6. doi: 10.1038/gim.2015.9
  • 2. Vissing J, Duno M, Schwartz M, Haller RG. Splice mutations preserve myophosphorylase activity that ameliorates the phenotype in Mc Ardle disease. Brain 2009; 132 (6): 1545–1552.
  • 3. 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.
  • 4. Satoh A, Hirashio S, Arima T, Yamada Y, Irifuku T, Ishibashi H, et al. Novel Asp511Thr mutation in McArdle disease with acute kidney injury caused by rhabdomyolysis. CEN Case Rep 2019 Mar 21. doi: 10.1007/s13730-019-00392-6
  • 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):852-855. doi: 10.1016/j.nmd.2017.04.013.
  • 6. 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. Human mutation 2015; 36(7):669-78.
  • 7. Quinlivan R, Martinuzzi A, Schoser B. Pharmacological and nutritional treatment for McArdle disease (Glycogen Storage Disease type V). The Cochrane database of systematic reviews 2014;11:CD003458.
There are 7 citations in total.

Details

Primary Language English
Subjects Health Care Administration
Journal Section Case Reports
Authors

Gülden Diniz 0000-0003-1512-7584

Canan Çelik

Oğuz Dikbaş This is me

Aslıhan Duman

Ayşe Feyda Nursal This is me

Project Number yok
Publication Date June 30, 2019
Published in Issue Year 2019 Volume: 6 Issue: 6

Cite

APA Diniz, G., Çelik, C., Dikbaş, O., Duman, A., et al. (2019). McArdle’s disease in a Turkish woman due to an intronic variant of PYGM gene. Medical Science and Discovery, 6(6), 103-108. https://doi.org/10.17546/msd.565927
AMA Diniz G, Çelik C, Dikbaş O, Duman A, Nursal AF. McArdle’s disease in a Turkish woman due to an intronic variant of PYGM gene. Med Sci Discov. June 2019;6(6):103-108. doi:10.17546/msd.565927
Chicago Diniz, Gülden, Canan Çelik, Oğuz Dikbaş, Aslıhan Duman, and Ayşe Feyda Nursal. “McArdle’s Disease in a Turkish Woman Due to an Intronic Variant of PYGM Gene”. Medical Science and Discovery 6, no. 6 (June 2019): 103-8. https://doi.org/10.17546/msd.565927.
EndNote Diniz G, Çelik C, Dikbaş O, Duman A, Nursal AF (June 1, 2019) McArdle’s disease in a Turkish woman due to an intronic variant of PYGM gene. Medical Science and Discovery 6 6 103–108.
IEEE G. Diniz, C. Çelik, O. Dikbaş, A. Duman, and A. F. Nursal, “McArdle’s disease in a Turkish woman due to an intronic variant of PYGM gene”, Med Sci Discov, vol. 6, no. 6, pp. 103–108, 2019, doi: 10.17546/msd.565927.
ISNAD Diniz, Gülden et al. “McArdle’s Disease in a Turkish Woman Due to an Intronic Variant of PYGM Gene”. Medical Science and Discovery 6/6 (June 2019), 103-108. https://doi.org/10.17546/msd.565927.
JAMA Diniz G, Çelik C, Dikbaş O, Duman A, Nursal AF. McArdle’s disease in a Turkish woman due to an intronic variant of PYGM gene. Med Sci Discov. 2019;6:103–108.
MLA Diniz, Gülden et al. “McArdle’s Disease in a Turkish Woman Due to an Intronic Variant of PYGM Gene”. Medical Science and Discovery, vol. 6, no. 6, 2019, pp. 103-8, doi:10.17546/msd.565927.
Vancouver Diniz G, Çelik C, Dikbaş O, Duman A, Nursal AF. McArdle’s disease in a Turkish woman due to an intronic variant of PYGM gene. Med Sci Discov. 2019;6(6):103-8.
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