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Central Core Disease - A Disease That Is Easily Misdiagnosed as Duchenne Muscular Dystrophy

Received: 28 November 2021     Accepted: 14 December 2021     Published: 29 December 2021
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Abstract

As a kind of congenital myopathy (CM), central core disease (CCD) is mainly characterized by low muscle tension, slow progressive or static proximal limb weakness. CM can be characterized by no symptoms to be unable to walk independently in the clinic, pathological changes can be manifested as only significant type 1 muscle fiber dominant type to typical central axial space structure, and there are also many genetic ways. Duchenne muscular dystrophy (DMD) is a common congenital myopathy, which is mainly manifested in the typical pathological changes of early progressive myasthenia and muscular dystrophy. Both CCD and DMD show similar clinical symptoms and their serum creatine kinase can be increased, which is often difficult to distinguish them through clinical characterization and laboratory examination. In this study, we report the clinical and genetic characteristics of two patients with progressive muscle weakness with elevated creatine kinase. They are the product of a first-cousin marriage and seek medical treatment due to asymptotic walking difficulties, muscle atrophy, joint contracture, scoliosis, and elevated creatine kinase levels. It was previously suspected as Duchenne muscular dystrophy. After that, the patient's DNA was sequenced by whole-exome sequencing (WES), and all coding regions were investigated. It was found that a new heterozygous missense mutation c.5092g > A in the RYR1 gene. Similar mutations have not been reported in the literature before. Bioinformatics software predicts that they have the possibility of pathogenesis, which is highly correlated with CCD. The purpose of this case is to report a new heterozygous mutation of the RYR1 gene, summarize the similarities and differences of clinical manifestations, genetic characteristics, and pathological changes of CCD and DMD, and provide a new idea for its differential diagnosis.

Published in Clinical Medicine Research (Volume 10, Issue 6)
DOI 10.11648/j.cmr.20211006.20
Page(s) 238-242
Creative Commons

This is an Open Access article, distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution and reproduction in any medium or format, provided the original work is properly cited.

Copyright

Copyright © The Author(s), 2021. Published by Science Publishing Group

Keywords

Central Core Disease, Duchenne Muscular Dystrophy, RYR1, Differential Diagnosis

References
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[2] Merlini, L., Mattutini, P., Bonfiglioli, S., & Granata, C. (1987). Non-progressive central core disease with severe congenital scoliosis: a case report. Developmental medicine and child neurology, 29 (1), 106–109. https://doi.org/10.1111/j.1469-8749.1987.tb02114.x
[3] Liu Jie, Liu Li, He Yingzhong & Wang Jiwen. (2018). The diagnostic value of second-generation sequencing for central axis disease: a report of 1 case. Journal of Clinical Pediatrics (07), 541-544. doi: CNKI: SUN: LCAK.0.2018-07-021.
[4] Jungbluth H. (2007). Central core disease. Orphanet journal of rare diseases, 2, 25. https://doi.org/10.1186/1750-1172-2-25
[5] Quinlivan, R. M., Muller, C. R., Davis, M., Laing, N. G., Evans, G. A., Dwyer, J., Dove, J., Roberts, A. P., & Sewry, C. A. (2003). Central core disease: clinical, pathological, and genetic features. Archives of disease in childhood, 88 (12), 1051–1055. https://doi.org/10.1136/adc.88.12.1051
[6] Maggi, L., Scoto, M., Cirak, S., Robb, S. A., Klein, A., Lillis, S., Cullup, T., Feng, L., Manzur, A. Y., Sewry, C. A., Abbs, S., Jungbluth, H., & Muntoni, F. (2013). Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom. Neuromuscular disorders: NMD, 23 (3), 195–205. https://doi.org/10.1016/j.nmd.2013.01.004
[7] Suneja, B., Suneja, E. S., Adlakha, V. K., & Chandna, P. (2015). A Rare Case Report of Neurodegenerative Disease: Duchenne Muscular Dystrophy in Two Male Siblings. International journal of clinical pediatric dentistry, 8 (2), 163–165. https://doi.org/10.5005/jp-journals-10005-1306
[8] Ana Camacho Salas. (2014). Distrofia muscular de Duchenne. Anales de pediatria continuada (2), doi: 10.1016/S1696-2818(14)70168-4.
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[10] Nascimento Osorio, A., Medina Cantillo, J., Camacho Salas, A., Madruga Garrido, M., & Vilchez Padilla, J. J. (2019). Consensus on the diagnosis, treatment and follow-up of patients with Duchenne muscular dystrophy. Consenso para el diagnóstico, tratamiento y seguimiento del paciente con distrofia muscular de Duchenne. Neurologia (Barcelona, Spain), 34 (7), 469–481. https://doi.org/10.1016/j.nrl.2018.01.001
[11] Chen Yinhong, Wang Xiaojing, Shen Hongrui & Hu Jing. (2013). Duchenne Muscular Dystrophy and Genetic Counseling. Clinical Collection (05), 590-592. doi: CNKI:SUN:LCFC.0.2013-05-042.
[12] Lawal Tokunbor A, Todd Joshua J & Meilleur Katherine G.(2018). Ryanodine Receptor 1-Related Myopathies: Diagnostic and Therapeutic Approaches. Neurotherapeutics: the journal of the American Society for Experimental Neuro Therapeutics (4), doi: 10.1007/s13311-018-00677-1.
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    Wanting Li, Jinying Wang, Zhuoming Chen. (2021). Central Core Disease - A Disease That Is Easily Misdiagnosed as Duchenne Muscular Dystrophy. Clinical Medicine Research, 10(6), 238-242. https://doi.org/10.11648/j.cmr.20211006.20

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    ACS Style

    Wanting Li; Jinying Wang; Zhuoming Chen. Central Core Disease - A Disease That Is Easily Misdiagnosed as Duchenne Muscular Dystrophy. Clin. Med. Res. 2021, 10(6), 238-242. doi: 10.11648/j.cmr.20211006.20

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    AMA Style

    Wanting Li, Jinying Wang, Zhuoming Chen. Central Core Disease - A Disease That Is Easily Misdiagnosed as Duchenne Muscular Dystrophy. Clin Med Res. 2021;10(6):238-242. doi: 10.11648/j.cmr.20211006.20

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  • @article{10.11648/j.cmr.20211006.20,
      author = {Wanting Li and Jinying Wang and Zhuoming Chen},
      title = {Central Core Disease - A Disease That Is Easily Misdiagnosed as Duchenne Muscular Dystrophy},
      journal = {Clinical Medicine Research},
      volume = {10},
      number = {6},
      pages = {238-242},
      doi = {10.11648/j.cmr.20211006.20},
      url = {https://doi.org/10.11648/j.cmr.20211006.20},
      eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.cmr.20211006.20},
      abstract = {As a kind of congenital myopathy (CM), central core disease (CCD) is mainly characterized by low muscle tension, slow progressive or static proximal limb weakness. CM can be characterized by no symptoms to be unable to walk independently in the clinic, pathological changes can be manifested as only significant type 1 muscle fiber dominant type to typical central axial space structure, and there are also many genetic ways. Duchenne muscular dystrophy (DMD) is a common congenital myopathy, which is mainly manifested in the typical pathological changes of early progressive myasthenia and muscular dystrophy. Both CCD and DMD show similar clinical symptoms and their serum creatine kinase can be increased, which is often difficult to distinguish them through clinical characterization and laboratory examination. In this study, we report the clinical and genetic characteristics of two patients with progressive muscle weakness with elevated creatine kinase. They are the product of a first-cousin marriage and seek medical treatment due to asymptotic walking difficulties, muscle atrophy, joint contracture, scoliosis, and elevated creatine kinase levels. It was previously suspected as Duchenne muscular dystrophy. After that, the patient's DNA was sequenced by whole-exome sequencing (WES), and all coding regions were investigated. It was found that a new heterozygous missense mutation c.5092g > A in the RYR1 gene. Similar mutations have not been reported in the literature before. Bioinformatics software predicts that they have the possibility of pathogenesis, which is highly correlated with CCD. The purpose of this case is to report a new heterozygous mutation of the RYR1 gene, summarize the similarities and differences of clinical manifestations, genetic characteristics, and pathological changes of CCD and DMD, and provide a new idea for its differential diagnosis.},
     year = {2021}
    }
    

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  • TY  - JOUR
    T1  - Central Core Disease - A Disease That Is Easily Misdiagnosed as Duchenne Muscular Dystrophy
    AU  - Wanting Li
    AU  - Jinying Wang
    AU  - Zhuoming Chen
    Y1  - 2021/12/29
    PY  - 2021
    N1  - https://doi.org/10.11648/j.cmr.20211006.20
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    JF  - Clinical Medicine Research
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    PB  - Science Publishing Group
    SN  - 2326-9057
    UR  - https://doi.org/10.11648/j.cmr.20211006.20
    AB  - As a kind of congenital myopathy (CM), central core disease (CCD) is mainly characterized by low muscle tension, slow progressive or static proximal limb weakness. CM can be characterized by no symptoms to be unable to walk independently in the clinic, pathological changes can be manifested as only significant type 1 muscle fiber dominant type to typical central axial space structure, and there are also many genetic ways. Duchenne muscular dystrophy (DMD) is a common congenital myopathy, which is mainly manifested in the typical pathological changes of early progressive myasthenia and muscular dystrophy. Both CCD and DMD show similar clinical symptoms and their serum creatine kinase can be increased, which is often difficult to distinguish them through clinical characterization and laboratory examination. In this study, we report the clinical and genetic characteristics of two patients with progressive muscle weakness with elevated creatine kinase. They are the product of a first-cousin marriage and seek medical treatment due to asymptotic walking difficulties, muscle atrophy, joint contracture, scoliosis, and elevated creatine kinase levels. It was previously suspected as Duchenne muscular dystrophy. After that, the patient's DNA was sequenced by whole-exome sequencing (WES), and all coding regions were investigated. It was found that a new heterozygous missense mutation c.5092g > A in the RYR1 gene. Similar mutations have not been reported in the literature before. Bioinformatics software predicts that they have the possibility of pathogenesis, which is highly correlated with CCD. The purpose of this case is to report a new heterozygous mutation of the RYR1 gene, summarize the similarities and differences of clinical manifestations, genetic characteristics, and pathological changes of CCD and DMD, and provide a new idea for its differential diagnosis.
    VL  - 10
    IS  - 6
    ER  - 

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Author Information
  • The First Affiliated Hospital of Jinan University, Guangzhou, China

  • The First Affiliated Hospital of Jinan University, Guangzhou, China

  • The First Affiliated Hospital of Jinan University, Guangzhou, China

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