DUCHENNE MYODYSTROPHY
https://doi.org/10.52485/19986173_2025_4_157
Abstract
Duchenne muscular dystrophy is the hereditary progressive neuromuscular disease associated with mutations in the DMD gene encoding dystrophin protein and is characterized by striated muscles and cardiomyocytes impairment. It is X-linked recessive disorder and more prevalent in males. Females are carriers of the pathological mutation. It leads to impediment to diagnosis of this disease in women. Mild and severe clinical manifestations can also appear in women and they are attributable to chromosomal aberrations on the short arm of X-chromosome (Xp21.2) and skewed X-chromosome inactivation. The article presents a case of Duchenne muscular dystrophy in a girl with a nonsense mutation in the DMD gene. Primary diagnosis was suspected by gastroenterologist due to elevated levels of creatine phosphokinase and transaminase. The importance of diagnosis in preclinical stage of the disease is highlighted, moreover it became significantly relevant with appeared therapeutic options for patients with this mutation.
About the Authors
N. V. Vyalova
Far Eastern State Medical University
Russian Federation
Russian Federation
Vyalova N.V., Сandidate of Medical Sciences, Associate Professor of the Department of Neurology and Neurosurgery
35 Murav'eva-Amurskogo St., Khabarovsk, 680000
I. P. Piotrovich
Available medical care
Russian Federation
Russian Federation
Piotrovich I.P., Сandidate of Medical Sciences, Pediatrician, Gastroenterologist
144/1 Karla Marksa St., Khabarovsk, 680031
N. V. Sikora
Professor G.S. Postol Perinatal Center
Russian Federation
Russian Federation
Sikora N.V., Head of the Medical and Genetic Consultation, Lead Clinician for Medical Genetics
85 Istomina St., Khabarovsk, 680038
A. S. Skretnev
Far Eastern State Medical University;
A.K. Piotrovich Children Regional Clinical Hospital
Russian Federation
Russian Federation
Skretnev A.S., Assistant of the Department of Neurology and Neurosurgery, Head of Department of Neurology
35 Murav'eva-Amurskogo St., Khabarovsk, 680000;
6 Progressivnaya St., Khabarovsk, 680003
V. O. Kovalenko
Far Eastern State Medical University
Russian Federation
Russian Federation
Kovalenko V.O., Student
35 Murav'eva-Amurskogo St., Khabarovsk, 680000
M. V. Eliseeva
Professor G.S. Postol Perinatal Center
Russian Federation
Russian Federation
Eliseeva M.V., Geneticist
85 Istomina St., Khabarovsk, 680038
References
1. Fornander F., Solheim T.A., Eisum A.V., et al. Quantitative muscle MRI and clinical findings in women with pathogenic dystrophin gene variants. Frontiers in Neurology. 2021 Sep 3. 12. 707837. doi: 10.3389/fneur.2021.707837.
2. Sarkozy A., Quinlivan R., Bourke J.P., et al. 263rd ENMC International Workshop: Focus on female carriers of dystrophinopathy: refining recommendations for prevention, diagnosis, surveillance, and treatment. 2023 Mar. Neuromuscular Disorders. 2023. 33 (3). 274–284. doi: 10.1016/j.nmd.2023.01.003.
3. Hoogerwaard E.M., Bakker E., Ippel P.F., et al. Signs and symptoms of Duchenne muscular dystrophy and Becker muscular dystrophy among carriers in The Netherlands: a cohort study. Lancet. 1999. 353 (9170). 2116–9. doi: 10.1016/s0140-6736(98)10028-4.
4. Silva T.H.D., Anequini I.P., Fávero F.M., et al. Functional performance and muscular strength in symptomatic female carriers of Duchenne muscular dystrophy. Arq Neuropsiquiatr. 2020 Mar. 78 (3). 143–148. doi: 10.1590/0004 282X20190168.
5. Podkletnova T.V., Kondakova O.B., Uvakina E.V., et al. A clinical case of severe Duchenne muscular dystrophy caused by a nonsense mutation in the DMD gene in a girl. Nevrologicheskiy zhurnal imeni L.O. Badalyana. 2021. 2 (4). 227–232. doi: 10.46563/2686-8997-2021-2-4-227-232. in Russian.
6. Giglio V., Puddu P.E., Camastra G., et al. Patterns of late gadolinium enhancement in Duchenne muscular dystrophy carriers. J Cardiovasc Magn Reson. 2014 Jul. 16 (1). 45. doi: 10.1186/1532-429X-16-45.
7. Juan-Mateu J., Rodríguez M.J., Nascimento A., et al. Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy. Orphanet Journal of Rare Diseases. 2012. 7. 82. doi: 10.1186/1750-1172-7-82.
8. Lu Z., Carter A.C., Chang H.Y. Mechanistic insights in X-chromosome inactivation. Philos Trans R Soc Lond B Biol Sci. 2017 Nov. 372 (1733). 20160356. doi: 10.1098/rstb.2016.0356.
9. Papa R., Madia F., Bartolomeo D., et al. Genetic and early clinical manifestations of females heterozygous for Duchenne/Becker muscular dystrophy. Pediatric Neurology. 2016. 55. 58–63. doi: 10.1016/j.pediatrneu rol.2015.11.004.
10. Nozoe K.T., Akamine R.T., Mazzotti D.R., et al. Phenotypic contrasts of Duchenne muscular dystrophy in women: two case reports. Sleep Sci. 2016. 9 (3). 129–33. doi: 10.1016/j.slsci.2016.07.004.
11. Elangkovan N., Dickson G. Gene therapy for Duchenne muscular dystrophy. J Neuromuscul Dis. 2021. 8 (s2). S303–S316. doi:10.3233/JND-210678.
12. Dori A., Scutifero M., Passamano L., et al. Treatment with ataluren in four symptomatic Duchenne carriers. A pilot study. Acta Myol. 2024 Feb. 43 (1). 8–15. doi: 10.36185/2532-1900-398.
13. D’Ambrosio P., Orsini C., Nigro V., Politano L. Therapeutic approach with ataluren in Duchenne symptomatic carriers with nonsense mutations in dystrophin gene. Results of a 9-month follow-up in a case report. Acta Myol. 2018. 37 (4). 272–274.
14. Muntoni F., Desguerre I., Guglieri M., et al. Ataluren use in patients with nonsense mutation Duchenne muscular dystrophy: patient demographics and characteristics from the STRIDE Registry. J Comp Eff Res. 2019. 8 (14). 1187–200. doi: 10.2217/cer-2019-0086.
15. Vorontsova E.O., Murtazina A., Zinina E., et al. Balanced translocations involving the DMD gene as a cause of muscular dystrophy in female children: a description of three cases. Int J Mol Sci. 2025. 26. 9389. doi: 10.3390/ijms26199389.
16. Pluta N., von Moers A., Pechmann A., et al. Whole genome sequencing identified new structural variations in the DMD gene that cause Duchenne muscular dystrophy in two girls. Int J Mol Sci. 2023. 24 (17). 13567. doi: 10.3390/ijms241713567.
Review
For citations:
Vyalova N.V., Piotrovich I.P., Sikora N.V., Skretnev A.S., Kovalenko V.O., Eliseeva M.V. DUCHENNE MYODYSTROPHY. Transbaikalian Medical Bulletin. 2025;(4):157-164. (In Russ.) https://doi.org/10.52485/19986173_2025_4_157
Views:
198
JATS XML
Email this article 