Duchenne Muscular Dystrophy (DMD) is an X-link reccessive disorder, caused by mutation in dystrophin gene. Therefore body is incapable to synthesize dystrophin, the protein needed for muscle contraction. The incidence of DMD 1: 4000 male with age 3 to 5 years. Furthermore the patient will experience functional decline, loss of ambulation and early death due to cardiac or respiratory failure. Patient will be unable to walk at the beginning of second decade and usually decease at the age of 20s. Hereby we reported a male, 6-years-old presented with weakness on both of his legs. Patient had history of recurrent falls while walking and difficulty to climb stairs since 3-years-old. Patient also had difficulty to stand up immediately from sitting position. He had to grab his feet in order to make climb movement before stand up. Physical examination showed pseudo hypertrophy of calf muscle and positive Gower Maneuver. Laboratory examination showed creatinin kinase 16.891 (about 113 times higher than normal value). EMG revealed lesion of the muscle. Biopsy was taken from left muscle gastrocnemius and showed variability of muscle size without regeneration and fibrosis. The result of genetic test showed deletion of Dp427c and exon 1-2 of dystrophin gen. After been treated with corticosteroid for a year, the patient showed improvement in his gait moreover the weakness on both of his legs has became lessen. We emphasized the importance of early and accurate diagnosis of DMD for better quality of life.
| Published in | Clinical Neurology and Neuroscience (Volume 5, Issue 3) |
| DOI | 10.11648/j.cnn.20210503.11 |
| Page(s) | 41-45 |
| 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 |
Duchenne Muscular Dystrophy, X-linked Neuromuscular Disorders, Distrofin, Muscle Degeneration, Muscle Weakness
| [1] | Sinha R, Sarkar S, Khaitan T, Dutta S. (2017). Duchenne muscular dystrophy: Case report and review. J Family Med Prim Care. 6 (3): 654–56. |
| [2] | Jumah AM, Muhaizea AM, Rumayyan AA, Saman AA et al. (2019). Current management of Duchenne muscular dystrophy in the middle east: expert report. Neurodegener Dis Manag. 9 (3): 123-33. |
| [3] | Marden RJ, Freinmark J, Yao Z et al. (2020). Real-world outcomes of long-term prednisone and deflazacort use in patients with Duchenne muscular dystrophy: experience at a single, large care center. J Comp Eff Res. 9 (3): 177-89. |
| [4] | Rathod KG, Dawre RM, Kamble MB et al. (2014). Duchenne Muscular Dystrophy Diagnosed by Dystrophin Gene Deletion Test: A Case Report. Int J Med Res Health. 3 (2): 506-08. |
| [5] | Steinberg H, wagner A. Wilhelm Erb's. (2013). Years in Leipzig (1880-1883) and Their Impact on the History of Neurology. Eur Neurol. 70: 267-75. |
| [6] | Machfoed MH, Besin V, Basuki M, Lasmono SF. (2017). Duchenne muscular dystrophy: overview and future challenges. Aktualn Neurol. 17 (3): 144-49. |
| [7] | Suthar R, Sankhyan N. (2017). Duchenne Muscular Dystrophy: A Practice update. Indian J pediatr. 27: 276-81. |
| [8] | Strehle EM, Straub V. (2015). Recent advances in the management of Duchenne muscular dystrophy. Arch Dis Child. 100: 1173-77. |
| [9] | Wein N, Alfano L, Flanigan KM. (2015). Genetics and emerging treatments for Duchenne and Becker muscular dystrophy. Pediatr Clin North Am. 62: 723–42. |
| [10] | Birnkrant DJ, Busbhy K, Bann CM et al. (2018). Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management. Lancet Neurol. 17 (3): 251-67. |
| [11] | Joyce NC, Oskarsson B, Jin LW. (2012). Muscle Biopsy Evaluation in Neuromuscular Disorders. Phys Med Rehabil Clin N Am. 23 (3): 609-31. |
| [12] | Schram G, Fournier A, Leduc H et al. (2013). All-cause mortality and cardiovascular outcomes with prophylactic steroid therapy in Duchenne muscular dystrophy. J Am Coll Cardiol. 61: 948-54. |
| [13] | Lamb MM, West NA, Ouyang L et al. (2016). Corticosteroid treatment and growth patterns in ambulatory Males with Duchenne muscular dystrophy. J Pediatr. 173: 207-13. |
| [14] | Beytía ML, Vry J, Kirschner J. (2012). Drug treatment of Duchenne muscular dystrophy: Available evidence and perspectives. Acta Myol. 31: 4-8. |
| [15] | David Gloss, Richard T. Moxley RT, Stephen Ashwal et al. (2016). Corticosteroid treatment of Duchenne muscular dystrophy. Neurology. 86: 465-472. |
| [16] | Guglieri M, Bushby K, McDermott M, Hart KA et al. (2017). Developing Standardized Corticosteroid Treatment for Duchenne Muscular Dystrophy. Contemp Clin Trials. 58: 34-39. |
| [17] | Kim S, Zhu Y, Romitti PA, Fox DJ et al. (2017). Associations between timing of corticosteroid treatment initiation and clinical outcomes in Duchenne muscular dystrophy. Neuromuscular Disorders. 27 (8): 730-37. |
| [18] | Goemans N, vanden HM, Signorovitch J, Swallow E et al. (2016). Individualized Prediction of Changes in 6-Minute Walk Distance for Patients with Duchenne Muscular Dystrophy. Plos One. 13: 1-15. |
APA Style
Christin Natalia Kalembang, I Gusti Ngurah Made Suwarba, Dewi Sutriani Mahalini, Herman Saputra. (2021). Case Report: Duchenne Muscular Dystrophy in a 6-Year-Old Boy. Clinical Neurology and Neuroscience, 5(3), 41-45. https://doi.org/10.11648/j.cnn.20210503.11
ACS Style
Christin Natalia Kalembang; I Gusti Ngurah Made Suwarba; Dewi Sutriani Mahalini; Herman Saputra. Case Report: Duchenne Muscular Dystrophy in a 6-Year-Old Boy. Clin. Neurol. Neurosci. 2021, 5(3), 41-45. doi: 10.11648/j.cnn.20210503.11
AMA Style
Christin Natalia Kalembang, I Gusti Ngurah Made Suwarba, Dewi Sutriani Mahalini, Herman Saputra. Case Report: Duchenne Muscular Dystrophy in a 6-Year-Old Boy. Clin Neurol Neurosci. 2021;5(3):41-45. doi: 10.11648/j.cnn.20210503.11
Share This Article
Twitter
Linked In
Facebook
Copy
Download@article{10.11648/j.cnn.20210503.11,
author = {Christin Natalia Kalembang and I Gusti Ngurah Made Suwarba and Dewi Sutriani Mahalini and Herman Saputra},
title = {Case Report: Duchenne Muscular Dystrophy in a 6-Year-Old Boy},
journal = {Clinical Neurology and Neuroscience},
volume = {5},
number = {3},
pages = {41-45},
doi = {10.11648/j.cnn.20210503.11},
url = {https://doi.org/10.11648/j.cnn.20210503.11},
eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.cnn.20210503.11},
abstract = {Duchenne Muscular Dystrophy (DMD) is an X-link reccessive disorder, caused by mutation in dystrophin gene. Therefore body is incapable to synthesize dystrophin, the protein needed for muscle contraction. The incidence of DMD 1: 4000 male with age 3 to 5 years. Furthermore the patient will experience functional decline, loss of ambulation and early death due to cardiac or respiratory failure. Patient will be unable to walk at the beginning of second decade and usually decease at the age of 20s. Hereby we reported a male, 6-years-old presented with weakness on both of his legs. Patient had history of recurrent falls while walking and difficulty to climb stairs since 3-years-old. Patient also had difficulty to stand up immediately from sitting position. He had to grab his feet in order to make climb movement before stand up. Physical examination showed pseudo hypertrophy of calf muscle and positive Gower Maneuver. Laboratory examination showed creatinin kinase 16.891 (about 113 times higher than normal value). EMG revealed lesion of the muscle. Biopsy was taken from left muscle gastrocnemius and showed variability of muscle size without regeneration and fibrosis. The result of genetic test showed deletion of Dp427c and exon 1-2 of dystrophin gen. After been treated with corticosteroid for a year, the patient showed improvement in his gait moreover the weakness on both of his legs has became lessen. We emphasized the importance of early and accurate diagnosis of DMD for better quality of life.},
year = {2021}
}
TY - JOUR T1 - Case Report: Duchenne Muscular Dystrophy in a 6-Year-Old Boy AU - Christin Natalia Kalembang AU - I Gusti Ngurah Made Suwarba AU - Dewi Sutriani Mahalini AU - Herman Saputra Y1 - 2021/06/25 PY - 2021 N1 - https://doi.org/10.11648/j.cnn.20210503.11 DO - 10.11648/j.cnn.20210503.11 T2 - Clinical Neurology and Neuroscience JF - Clinical Neurology and Neuroscience JO - Clinical Neurology and Neuroscience SP - 41 EP - 45 PB - Science Publishing Group SN - 2578-8930 UR - https://doi.org/10.11648/j.cnn.20210503.11 AB - Duchenne Muscular Dystrophy (DMD) is an X-link reccessive disorder, caused by mutation in dystrophin gene. Therefore body is incapable to synthesize dystrophin, the protein needed for muscle contraction. The incidence of DMD 1: 4000 male with age 3 to 5 years. Furthermore the patient will experience functional decline, loss of ambulation and early death due to cardiac or respiratory failure. Patient will be unable to walk at the beginning of second decade and usually decease at the age of 20s. Hereby we reported a male, 6-years-old presented with weakness on both of his legs. Patient had history of recurrent falls while walking and difficulty to climb stairs since 3-years-old. Patient also had difficulty to stand up immediately from sitting position. He had to grab his feet in order to make climb movement before stand up. Physical examination showed pseudo hypertrophy of calf muscle and positive Gower Maneuver. Laboratory examination showed creatinin kinase 16.891 (about 113 times higher than normal value). EMG revealed lesion of the muscle. Biopsy was taken from left muscle gastrocnemius and showed variability of muscle size without regeneration and fibrosis. The result of genetic test showed deletion of Dp427c and exon 1-2 of dystrophin gen. After been treated with corticosteroid for a year, the patient showed improvement in his gait moreover the weakness on both of his legs has became lessen. We emphasized the importance of early and accurate diagnosis of DMD for better quality of life. VL - 5 IS - 3 ER -
Information
Email: