#PAGE_PARAMS# #ADS_HEAD_SCRIPTS# #MICRODATA#

Dystrophinopathies


Authors: P. Balážová;  K. Viestová;  Dystrofinopatie M. Kolníková
Authors‘ workplace: Klinika detskej neurológie, Lekárska fakulta Univerzity Komenského Národný ústav detských chorôb, Bratislava
Published in: Čes-slov Pediat 2022; 77 (4): 198-205.
Category: Comprehensive Report
doi: https://doi.org/10.55095/CSPediatrie2022/032

Overview

The dystrophinopathies are a spectrum of progressive muscular dystrophies that are caused by the absence of or decrease in the function of dystrophin protein. The dystrophinopathies include Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD) and DMD-associated dilated cardiomyopathy (DCM). Due to the incidence in the population, dystrophinopathy is one of the most common neuromuscular diseases of childhood. In clinical picture we can usually find delayed motor development, progressive muscle weakness, calf pseudohypertrophy and Gowers‘ sign. Based on clinical symptoms and initial tests (the finding of elevated creatine kinase), the diagnosis is made by molecular genetic testing. In therapy, corticosteroid therapy is recommended as standard treatment with multidisciplinary management of the patient in specialized centres for neuromuscular diseases.

Keywords:

Duchenne muscular dystrophy – Becker muscular dystrophy – dystrophinopathies


Sources

1. Thangarajh M. The Dystrophinopathies. Continuum (Minneap Minn) 2019; 25(6): 1619–1639.

2. Duan D, Goemans N, Takeda S, et al. Duchenne muscular dystrophy. Nat Rev Dis Primers 2021; 7(1): 1–19.

3. Crisafulli S, Sultana J, Fontana A, et al. Global epidemiology of Duchenne muscular dystrophy: an updated systematic review and meta–analysis. Orphanet J Rare Dis 2020; 15(1): 141.

4. Tyler KL. Origins and early descriptions of “Duchenne muscular dystrophy”. Muscle Nerve 2003; 28(4): 402–422.

5. Mrázová L. Duchennova svalová dystrofie – patogeneze, klinický obraz, diagnostika, aktuální možnosti terapie. Neurológia 2016; 11(1): 13–15.

6. Gieron-Korthals M, Fernandez R. New developments in diagnosis, treatment, and management of Duchenne muscular dystrophy. Adv Pediatr 2020; 67: 183–196.

7. Petrovič R, Fischerová K, Chandoga J. Duchennova muskulárna dystrofia – diagnostika a štuktúra molekulárnogenetických patológií na Slovensku. Neurológia. 15(1): 25–28.

8. Doorenweerd N. Combining genetics, neuropsychology and neuroimaging to improve understanding of brain involvement in Duchenne muscular dystrophy – a narrative review. Neuromuscul Disord 2020; 30(6): 437–442.

9. Naidoo M, Anthony K. Dystrophin Dp71 and the Neuropathophysiology of Duchenne Muscular Dystrophy. Mol Neurobiol 2020; 57(3): 1748–1767.

10. Aartsma-Rus A, Ginjaar IB, Bushby K. The importance of genetic diagnosis for Duchenne muscular dystrophy. J Med Genet 2016; 53(3): 145–151.

11. Flanigan KM. Duchenne and Becker muscular dystrophies. Neurol Clin 2014; 32(3): 671–688, viii.

12. Brandsema JF, Darras BT. Dystrophinopathies. Semin Neurol 2015; 35(4): 369–384.

13. Yiu EM, Kornberg AJ. Duchenne muscular dystrophy. J Paediatr Child Health 2015; 51(8): 759–764.

14. Shrestha S, Munakomi S. Gower Sign. In: StatPearls. StatPearls Publishing; 2022. Accessed March 9, 2022. http: //www.ncbi.nlm.nih.gov/books/NBK540973/

15. Torriani M, Townsend E, Thomas BJ, et al. Lower leg muscle involvement in Duchenne muscular dystrophy: an MR imaging and spectroscopy study. Skeletal Radiol 2012; 41(4): 437–445.

16. Bello L, Morgenroth LP, Gordish-Dressman H, et al. DMD genotypes and loss of ambulation in the CINRG Duchenne Natural History Study. Neurology 2016; 87(4): 401–409.

17. Birnkrant DJ, Bushby K, Bann CM, et al. Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management. Lancet Neurol 2018; 17(4): 347–361.

18. Ricotti V, Mandy WPL, Scoto M, et al. Neurodevelopmental, emotional, and behavioural problems in Duchenne muscular dystrophy in relation to underlying dystrophin gene mutations. Dev Med Child Neurol 2016; 58(1): 77–84.

19. Pane M, Messina S, Bruno C, et al. Duchenne muscular dystrophy and epilepsy. Neuromuscul Disord 2013; 23(4): 313–315.

20. Shih JA, Folch A, Wong BL. Duchenne muscular dystrophy: the heart of the matter. Curr Heart Fail Rep 2020; 17(3): 57–66.

21. Ryder S, Leadley RM, Armstrong N, et al. The burden, epidemiology, costs and treatment for Duchenne muscular dystrophy: an evidence review. Orphanet J Rare Dis 2017; 12(1): 79.

22. Yuan R, Yi J, Xie Z, et al. Genotype-phenotype correlation in Becker muscular dystrophy in Chinese patients. J Hum Genet 2018; 63(10): 1041–1048.

23. Ferrero A, Rossi M. Cognitive profile and neuropsychiatric disorders in Becker muscular dystrophy: A systematic review of literature. Neurosci Biobehav Rev 2022; 137: 104648.

24. Finsterer J, Stöllberger C. Cardiac involvement in Becker muscular dystrophy. Can J Cardiol 2008; 24(10): 786–792.

25. Nakamura A. X-linked dilated cardiomyopathy: a cardiospecific phenotype of dystrophinopathy. Pharmaceuticals (Basel) 2015; 8(2): 303–320.

26. Imbornoni L, Price ET, Andrews J, et al. Diagnostic and clinical characteristics of early–manifesting females with Duchenne or Becker muscular dystrophy. Am J Med Genet A 2014; 164A(11): 2769–2774.

27. Zhong J, Xie Y, Bhandari V, et al. Clinical and genetic characteristics of female dystrophinopathy carriers. Mol Med Rep 2019; 19(4): 3035–3044.

28. Špalek P. HyperCKémia – etiológia, klinický význam a diferenciálna diagnostika. Via practica 2008; 15: 259–264.

29. Bednařík J. Svalové dystrofie. Neurol Praxi 2004; 3: 137–141.

30. Paganoni S, Amato A. Electrodiagnostic evaluation of myopathies. Phys Med Rehabil Clin N Am 2013; 24(1): 193–207.

31. van den Bersselaar LR, Riazi S, Snoeck M, et al.; Anaesthesia and Neuromuscular Disorders Working Group. 259th ENMC international workshop: Anaesthesia and neuromuscular disorders 11 December,2020 and 28–29 May 2021. Neuromuscul Disord 2022; 32(1): 86–97.

32. Golli T, Kastrin A, Pokorn M, Rener-Primec Z. Immunosuppression and immunization: Vaccination in pediatric patients with neuromuscular diseases treated with steroids or immune-modulating drugs. Eur J Paediatr Neurol 2021; 35: 158–164.

33. Mah JK, Clemens PR, Guglieri M, et al. Efficacy and safety of vamorolone in Duchenne muscular dystrophy: a 30-month nonrandomized controlled open–label extension trial. JAMA Netw Open 2022; 5(1): e2144178.

34. Campbell C, Barohn RJ, Bertini E, et al. Meta-analyses of ataluren randomized controlled trials in nonsense mutation Duchenne muscular dystrophy. J Comp Eff Res 2020; 9(14): 973–984.

35. Brenner D, Ludolph AC, Weishaupt JH. Gene specific therapies – the next therapeutic milestone in neurology. Neurol Res Pract 2020; 2: 25.

36. Fortunato F, Rossi R, Falzarano MS, Ferlini A. Innovative therapeutic approaches for Duchenne muscular dystrophy. J Clin Med 2021; 10(4): 820.

37. Shieh PB. Emerging strategies in the treatment of Duchenne muscular dystrophy. Neurotherapeutics 2018; 15(4): 840–848.

38. Mendell JR, Al-Zaidy SA, Rodino-Klapac LR, et al. Current clinical applications of in vivo gene therapy with AAVs. Mol Ther 2021; 29(2): 464– 488.

39. Rybalka E, Timpani CA, Debruin DA, et al. The failed clinical story of myostatin inhibitors against Duchenne muscular dystrophy: Exploring the biology behind the battle. Cells 2020; 9(12): E2657.

Labels
Neonatology Paediatrics General practitioner for children and adolescents
Login
Forgotten password

Enter the email address that you registered with. We will send you instructions on how to set a new password.

Login

Don‘t have an account?  Create new account

#ADS_BOTTOM_SCRIPTS#