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

Wanting Li; Jinying Wang; Zhuoming Chen

doi:doi:10.11648/j.cmr.20211006.20

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

Wanting Li, Jinying Wang, Zhuoming Chen

Published in Clinical Medicine Research (Volume 10, Issue 6)

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), 2024. Published by Science Publishing Group

Keywords

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

References

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[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
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[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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APA Style

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
DO  - 10.11648/j.cmr.20211006.20
T2  - Clinical Medicine Research
JF  - Clinical Medicine Research
JO  - Clinical Medicine Research
SP  - 238
EP  - 242
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

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

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APA Style

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}
}

Copy | Download

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
DO  - 10.11648/j.cmr.20211006.20
T2  - Clinical Medicine Research
JF  - Clinical Medicine Research
JO  - Clinical Medicine Research
SP  - 238
EP  - 242
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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