Clinical Medicine Research

ISSN Online: 2326-9057 ISSN Print: 2326-9049

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

Received: Nov. 28, 2021 Accepted: Dec. 14, 2021 Published: Dec. 29, 2021

DOI: 10.11648/j.cmr.20211006.20 Views: Download:

Authors

Wanting Li, The First Affiliated Hospital of Jinan University, Guangzhou, China

Jinying Wang, The First Affiliated Hospital of Jinan University, Guangzhou, China

Zhuoming Chen, The First Affiliated Hospital of Jinan University, Guangzhou, China

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.

Keywords

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

To cite this article

Wanting Li, Jinying Wang, Zhuoming Chen, Central Core Disease - A Disease That Is Easily Misdiagnosed as Duchenne Muscular Dystrophy, Clinical Medicine Research. Vol. 10, No. 6, 2021, pp. 238-242. doi: 10.11648/j.cmr.20211006.20

Copyright

Copyright © 2021 Authors retain the copyright of this article.
This article is an open access article distributed under the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/) which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

References
  • [1]

    Dubowitz, V., & Roy, S. (1970). Central core disease of muscle: clinical, histochemical and electron microscopic studies of an affected mother and child. Brain: a journal of neurology, 93 (1), 133–146. https://doi.org/10.1093/brain/93.1.133

  • [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.

  • [9]

    Bushby, K., Finkel, R., Birnkrant, D. J., Case, L. E., Clemens, P. R., Cripe, L., Kaul, A., Kinnett, K., McDonald, C., Pandya, S., Poysky, J., Shapiro, F., Tomezsko, J., Constantin, C., & DMD Care Considerations Working Group (2010). Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management. The Lancet. Neurology, 9 (1), 77–93. https://doi.org/10.1016/S1474-4422(09)70271-6

  • [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.

  • [13]

    Dubowitz, V., & Platts, M. (1965). Central core disease of muscle with focal wasting. Journal of neurology, neurosurgery, and psychiatry, 28 (5), 432–437. https://doi.org/10.1136/jnnp.28.5.432

  • [14]

    Cotton, S., Voudouris, N. J., & Greenwood, K. M. (2001). Intelligence and Duchenne muscular dystrophy: full-scale, verbal, and performance intelligence quotients. Developmental medicine and child neurology, 43 (7), 497–501. https://doi.org/10.1017/s0012162201000913

  • [15]

    Lanner, J. T., Georgiou, D. K., Joshi, A. D., & Hamilton, S. L. (2010). Ryanodine receptors: structure, expression, molecular details, and function in calcium release. Cold Spring Harbor perspectives in biology, 2 (11), a003996. https://doi.org/10.1101/cshperspect.a003996

  • [16]

    Lin Minting, Chen Haizhu, Lin Xiaodan, He Junjie, Xu Guorong, Wang Ning & Wang Zhiqiang. (2017). Clinical, pathological, imaging, and genetic analysis of 2 cases of central axis disease with different inheritance. Chinese Journal of Nervous and Mental Diseases (09), 513- 519. doi: CNKI:SUN:ZSJJ.0.2017-09-001.

  • [17]

    ENGEL W. K. (1961). Muscle target fibres, a newly recognized sign of denervation. Nature, 191, 389–390. https://doi.org/10.1038/191389a0

  • [18]

    Barone, V., Massa, O., Intravaia, E., Bracco, A., Di Martino, A., Tegazzin, V., Cozzolino, S., & Sorrentino, V. (1999). Mutation screening of the RYR1 gene and identification of two novel mutations in Italian malignant hyperthermia families. Journal of medical genetics, 36 (2), 115–118.