A review of diagnosis of Duchenne and Becker muscular dystrophy

Dana Chunkayeva 1 * , Altynshash Jaxybayeva 1
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1 Astana Medical University, Nur-Sultan, Kazakhstan
* Corresponding Author
J CLIN MED KAZ, Volume 18, Issue 5, pp. 6-10. https://doi.org/10.23950/jcmk/11222
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ABSTRACT

Duchenne muscular dystrophy and Becker muscular dystrophy are progressive serious neuromuscular disorders. We have reviewed contemporary data on diagnosis of DMD and BMD. Searches were carried out from 2010 to 2020. This article discusses clinical signs, features in biochemical blood analysis, findings on instrumental investigation, various mutations causing DMD/BMD, indications for morphological examination of muscles available for setting up the diagnosis for children suspected of DMD/BMD.
Keywords: Duchenne muscular dystrophy, Becker muscular dystrophy, diagnostic methods.

CITATION

Chunkayeva D, Jaxybayeva A. A review of diagnosis of Duchenne and Becker muscular dystrophy. J CLIN MED KAZ. 2021;18(5):6-10. https://doi.org/10.23950/jcmk/11222

REFERENCES

  • Shaymurzin MR, Evtushenko SK, Evtushenko OS, Baysultanov IH. Neyromyishechnyie zabolevaniya u detey: mnogogrannost problemyi i perspektivyi ee resheniya [in Russian]. Vestnik Chechenskogo Gosudarstvennogo universiteta. 2015;1(17):88-91
  • Pamela SM, Fresia SF, Gabriel CC. Survival of patients with Duchenne muscular dystrophy. Rev Chil Pediatr. 2018;89(4):477-483. doi: 10.4067/S0370-41062018005000704
  • Yiu EM, Kornberg AJ. Duchenne muscular dystrophy. Journal of Paediatrics and Child Health. 2015; 51(8):759-764. doi:10.1111/jpc.12868
  • Grinio LP. Nekotoryie osobennosti patogeneza miodistrofii Dyushenna [in Russian]. Zhurnal nevrologii i psihiatrii im. S.S. Korsakova. 2019;3:79-81.
  • Groznova O.S., Artemeva S.B. Porazhenie serdechno-sosudistoy sistemyi pri progressiruyuschey myishechnoy distrofii Bekkera [in Russian]. Rossiyskiy vestnik perinatologii i pediatrii. 2013;4:83-87
  • Tan H, Liang D, Wu L. Clinical practice guidelines for Duchenne muscular dystrophy. Chinese Journal of Medical Genetics. 2020;10;37(3):258-262. doi: 10.3760/cma.j.issn.1003-9406.2020.03.006
  • Falzarano MS, Scotton C, Passarelli C, Ferlini A. Duchenne Muscular Dystrophy: From Diagnosis to Therapy. Molecules. 2015;20(10):18168-18184. doi:10.3390/molecules201018168
  • Ryder S, Leadley RM, Armstrong N, Westwood M, de Kock S, Butt T. et al. The burden, epidemiology, costs and treatment for Duchenne muscular dystrophy: an evidence review. Orphanet Journal of Rare Diseases. 2017;12(79). doi: 10.1186/s13023-017-0631-3
  • Arupova D.R. Rasprostranennost i nozologicheskiy spektr nervno-myishechnyih zabolevaniy v razlichnyih populyatsiyah (obzor literaturyi) [in Russian]. Nauka, novyie tehnologii i innovatsii Kyirgyizstana. 2016;7:72-75
  • Mah JK, Korngut L, Dykeman J, Day L, Pringsheim T, Jette NA. Systematic review and meta-analysis on the epidemiology of Duchenne and Becker muscular dystrophy. Neuromuscul Disord. 2014;24(6):482-491. doi:10.1016/j.nmd.2014.03.008
  • Romitti PA, Zhu Y, Puzhankara S, James KA, Nabukera SK, Zamba GKD et al. Prevalence of Duchenne and Becker muscular dystrophies in the United States. Pediatrics. 2015;135(3):513-521. doi:10.1542/peds.2014-2044
  • Rasmussen M, Risberg K, Vollo A, Skjeldal OH. Neuromuscular disorders in children in south-eastern Norway. J Pediatr Neurol. 2012;10(2):95-100
  • Mah JK, Selby K, Campbell C, Nadeau A., Tarnopolsky M., McCormick A. et al. A population-based study of dystrophin mutations in Canada. Can J Neurol Sci. 2011;38(3):465-474. doi:10.1017/s0317167100011896
  • Ahmedova PG, Ugarov IV, Umahanova ZR, Zinchenko RA, Ginter EK. Rasprostranyonnost progressiruyuschih myishechnyih distrofiy Dyushenna/Bekkera v Respublike Dagestan (po dannyim registra nervno-myishechnyih zabolevaniy) [in Russian]. Meditsinskaya genetika. 2015;14(1):20-24
  • Chernikova VV, Poverennova IE, Kachkovskiy MA. Prognozirovanie riska razvitiya kardiomiopatii u detey s miodistrofiey Dyushenna [in Russian]. Ulyanovskiy mediko-biologicheskiy zhurnal. 2016;4:37-41
  • Wong SH, McClaren BJ, Archibald AD, Weeks A, Langmaid T, Ryan MM, et al. A mixed methods study of age at diagnosis and diagnostic odyssey for Duchenne muscular dystrophy. Eur J Hum Genet. 2015;23:1294–1300. https://doi.org/10.1038/ejhg.2014.301
  • Evtushenko SK, Shaymurzin MR, Evtushenko OS. Neyromyishechnyie zabolevaniya u detey: problemyi ranney diagnostiki i sovremennoy meditsinskoy i sotsialnoy reabilitatsii (nauchnyiy obzor i sobstvennyie nablyudeniya) [in Russian]. Mezhdunarodnyiy nevrologicheskiy zhurnal. 2013;5(59):13-31
  • Gissy JJ, Johnson T, Fox DJ, Kumar A, Ciafaloni E, van Essen AJ et al. Delayed onset of ambulation in boys with Duchenne muscular dystrophy: Potential use as an endpoint in clinical trials. Neuromuscular disorders. 2017; 27(10): 905–910. http://doi.org/10.1016/j.nmd.2017.06.002
  • Thangarajh M, Kaat AJ, Bibat G, Mansour J, Summerton K, Gioia A, et al. The NIH Toolbox for cognitive surveillance in Duchenne muscular dystrophy. Ann Clin Transl Neurol. 2019;6(9):1696-1706. doi:10.1002/acn3.50867.
  • Annexstad EJ, Lund-Petersen I, Rasmussen M. Duchenne muscular dystrophy. Tidsskr Nor Laegeforen. 2014;134(14):1361-1364. doi: 10.4045/tidsskr.13.0836.
  • Gajnetdinova D.D., Novoselova A.A. Sovremennye vozmozhnosti diagnostiki i lecheniya myshechnoj distrofii Dyushenna [in Russian]. Kazanskij med. zh. 2020;101(4):530–537. doi: 10.17816/KMJ2020-530.
  • Aghayeva SA, Mamedbeyli AK, Rasulov EM. Creatinkinase activities polymorphism study in three families with Duchenne muscular dystrophy from Azerbaijan republic. Paediatrics and child surgery journal. 2018;4(94):73-76
  • Mesova AM. Sindrom tsitoliza u detey pri nasledstvennyih miopatiyah [in Russian]. Vestnik KazNMU; 2016; 2: ISSN 9965-01-300-4
  • Wright MA, Yang ML, Parsons JA, Westfall JM, Yee AS. Consider muscle disease in children with elevated transaminase. J Am Board Fam Med. 2012;25(4):536-540. doi: 10.3122/jabfm.2012.04.110183
  • Safina SG, Lungar IA, Bayyisbekova AG, Sarbasova KS, Zhaksyibek MB, Seytkazyi-kyizyi A. et al. Kliniko-instrumentalnaya harakteristika razlichnyih variantov progressiruyuschih myishechnyih distrofiy na osnove opredeleniya mutatsiy gena distrofina [in Russian]. Meditsina. 2016;12(174):58-63
  • Hrach HC, Mangone M. miRNA Profiling for Early Detection and Treatment of Duchenne Muscular Dystrophy. Int J Mol Sci. 2019;20(18):4638. doi: 10.3390/ijms20184638
  • Nikitin SS. Elektromiograficheskie stadii denervatsionno-reinnervatsionnogo protsessa pri nervno-myishechnyih boleznyah: neobhodimost revizii [in Russian]. Nervno-myishechnyie bolezni. 2015;5(2):16-24
  • Gonchar' MA, Logvinova OL, Pomazunovskaya EP, Tel'nova LG, Buzhinskaya NR, Prihod'ko MI. Sovremennye principy diagnostiki i lecheniya myshechnoj distrofii Dyushenna (update 2018) [in Russian]. Sovremennaya pediatriya. 2018;4:91-97
  • Mavrogeni SI, Markousis-Mavrogenis G, Papavasiliou A, Papadopoulos G, Kolovou G. Cardiac Involvement in Duchenne Muscular Dystrophy and Related Dystrophinopathies. Methods Mol Biol. 2018;1687:31-42. doi:10.1007/978-1-4939-7374-3_3
  • Finsterer J, Claudia S. Cardiac involvement in Becker muscular dystrophy, Canadian Journal of Cardiology, 2008;24(10):786-792, doi.org/10.1016/S0828-282X(08)70686-X
  • Kamdar F, Garry DJ. Dystrophin-Deficient Cardiomyopathy. J Am Coll Cardiol. 2016;67(21):2533-2546. doi:10.1016/j.jacc.2016.02.081
  • Hor KN, Mah ML, Johnston P, Cripe TP, Cripe LH. Advances in the diagnosis and management of cardiomyopathy in Duchenne muscular dystrophy. Neuromuscul Disord. 2018;28(9):711-716. doi:10.1016/j.nmd.2018.06.014
  • Poverennova IE, Zakharov AV, Chernikova VV. Analiz klinicheskikh i instrumentalnykh parametrov, kharakterizuiushchikh kardiomiopatii pri razlichnykh formakh progressiruiushchikh myshechnykh distrofii [in Russian]. Saratovskii nauchno-meditsinskii zhurnal. 2017;1:160-164
  • Deliagin V.M. Ultrazvukovoe issledovanie myshts v norme i pri neiromyshechnoi patologii [in Russian]. SonoAce Ultrasound. 2017;27:68-73
  • Willcocks RJ, Rooney WD, Triplett WT, Forbes SC, Lott DJ, Senesac CR et al. Multicenter prospective longitudinal study of magnetic resonance biomarkers in a large Duchenne muscular dystrophy cohort. Ann Neurol. 2016;79(4):535-547. doi:10.1002/ana.24599
  • Vlodavets DV, Kazakov DO. Diagnosticheskie vozmozhnosti MRT myshts pri nervno-myshechnykh zabolevaniiakh [in Russian]. Nevrologicheskii zhurnal. 2014;3:4-12
  • Senesac CR, Lott DJ, Forbes SC, Mathur S, Arpan I, Senesac ES, Walter GA et al. Longitudinal Evaluation of Muscle Composition Using Magnetic Resonance in 4 Boys With Duchenne Muscular Dystrophy: Case Series. Phys Ther. 2015; 95(7): 978-988. doi:10.2522/ptj.20140234
  • Khoroshilova IG, Berezina GM, Sviatova GS, Salimbaeva DN. Molekuliarno-geneticheskaia diagnostika progressiruiushchei miodistrofii Diushenna i spinalnoi myshechnoi amiotrofii v Kazakhstane [in Russian]. Astana meditsinalyk zhurnaly. 2015;4:179-182
  • Abdrakhmanova Zh. Kliniko-diagnosticheskie aspekty verifikatsii myshechnoi distrofii Diushenna [in Russian]. Klinicheskaia meditsina Kazakhstana. 2012;4 (26):97-100
  • Bello L, Pegoraro E. Genetic diagnosis as a tool for personalized treatment of Duchenne muscular dystrophy. Acta Myol. 2016;35(3):122-127
  • Koeks Z, Bladen CL, Salgado D, van Zwet E, Pogoryelova O, McMacken G, et al. Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database. J Neuromuscul Dis. 2017;4(4):293-306. doi: 10.3233/JND-170280.
  • Ricotti V, Mandy W, Scoto M, Pane M, Deconinck N, Messina S, et al. Neurodevelopmental, emotional, and behavioural problems in Duchenne muscular dystrophy in relation to underlying dystrophin gene mutations. Developmental Medicine and Child Neurology. 2016;58(1),77-84. doi.org/10.1111/dmcn.12922
  • Kong X, Zhong X, Liu L, Cui S, Yang Y, Kong L. Genetic analysis of 1051 Chinese families with Duchenne/Becker Muscular Dystrophy. BMC medical genetics. 2019;20(1):139. doi: 10.1186/s12881-019-0873-0
  • Aravind S, Ashley B, Mannan A, Ganapathy A, Ramesh K, Ramachandran A et al. Targeted sequencing of the DMD locus: A comprehensive diagnostic tool for all mutations. Indian J Med Res. 2019;150:282-289 Doi: 10.4103/ijmr.IJMR_290_18
  • Min YL, Bassel-Duby R, Olson EN. CRISPR Correction of Duchenne Muscular Dystrophy. Annu Rev Med. 2019;70:239-255. doi:10.1146/annurev-med-081117-010451
  • Aartsma-Rus A, Ginjaar IB, Bushby K. The importance of genetic diagnosis for Duchenne muscular dystrophy. J Med Genet. 2016;53(3):145-151. doi:10.1136/jmedgenet-2015-103387
  • Okubo M, Minami N, Goto K, Goto Y, Noguchi S, Mitsuhashi S, Nishino I. Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations. J Hum Genet. 2016;61(6):483-489. doi: 10.1038/jhg.2016.7
  • Ji X, Zhang J, Xu Y, Long F, Sun W, Liu X et al. MLPA Application in Clinical Diagnosis of DMD/BMD in Shanghai. J Clin Lab Anal. 2015;29(5):405-411. doi:10.1002/jcla.21787
  • Zhang J, Ma D, Liu G, Wang Y, Liu A, Li L, et al. Genetic analysis of 62 Chinese families with Duchenne muscular dystrophy and strategies of prenatal diagnosis in a single center. BMC Med Genet . 2019;20(180). https://doi.org/10.1186/s12881-019-0912-x
  • Xu Y, Li Y, Song T, Guo F, Zheng J, Xu H, et al. A retrospective analysis of 237 Chinese families with Duchenne muscular dystrophy history and strategies of prenatal diagnosis. J Clin Lab Anal. 2018;32(7):e22445. doi: 10.1002/jcla.22445
  • Jones HF, Bryen SJ, Waddell LB, Bournazos A, Davis M, Farrar MA et al. Importance of muscle biopsy to establish pathogenicity of DMD missense and splice variants. Neuromuscul Disord. 2019;29(12):913-919. doi:10.1016/j.nmd.2019.09.013
  • Dobrescu MA, Chelu G, Tache DE, Purcaru SO, Petrescu IO. Differential Diagnosis between Duchenne Muscular Dystrophy and Limb Girdle Muscular Dystrophy 2a. Curr Health Sci J. 2015;41(4):385-389. doi:10.12865/CHSJ.41.04.15