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Clinical and Demographic Characteristics of Becker Muscular Dystrophy Cases

Year 2025, Volume: 19 Issue: 3, 123 - 129, 14.05.2025

Yiğithan Güzin , Deniz Sevcan Doğan , Gamze Sarıkaya Uzan , Gizem Doğan , Bakiye Tunçay , Berk Özyılmaz , Figen Baydan

https://doi.org/10.12956/tchd.1557901

Abstract

Objective: Becker Muscular Dystrophy (BMD) is a rare and progressive muscle disease characterized by mutations in the dystrophin gene. Although similar to Duchenne Muscular Dystrophy (DMD), BMD usually has a milder course. The aim of this study was to analyze the clinical and genetic profiles of BMD.

Material and Methods: Evaluations were made of 67 patients diagnosed with BMD between 2006 and 2024. Clinical findings, laboratory tests, and genetic analysis of the patients were retrospectively analyzed.

Results: The study group consisted of 67 patients with a mean age of 11.6±4.1 years and age at diagnosis of 4.6±3.3 years. A total of 7.5% of the patients had a history of consanguineous marriage, and 35.8% had a family history of BMD. The most common clinical symptoms were exercise intolerance (44.8%), fatigue (19.4%), and exercise-related pain (14.9%). Cardiac involvement was detected in 11.9% of the patients, and mutations between exons 45-55 were most frequently detected in these patients. Psychiatric problems were detected in 22.4% of patients, and 66.7% of these patients had mutations involving the exon 45 region. There was no significant difference in the clinical and laboratory findings of patients with reading frame mutations.

Conclusion: Although patients with BMD usually have milder clinical features, it was observed that cardiac and psychiatric involvement in particular may be associated with certain genetic mutations. Genetic analysis is considered to be an important tool in the diagnosis and prognosis of BMD, which may reduce the need for muscle biopsy.

Keywords

Becker muscular dystrophy Clinical characteristics Genetic mutations Reading frame mutations

Supporting Institution

yoktur

References

  • Thada PK, Bhandari J, Forshaw KC, Umapathi KK. Becker Muscular Dystrophy. Published online 2024:1-10.
  • Andrew LaPelusa; Ria Monica D. Asuncion; Michael Kentris . Muscular Dystrophy. Published online 2024:1-31.
  • Fox H, Millington L, Mahabeer I, van Ruiten H. Duchenne muscular dystrophy. BMJ 2020;368:l7012.
  • Cai A, Kong X. Development of CRISPR-Mediated Systems in the Study of Duchenne Muscular Dystrophy. Hum Gene Ther Methods 2019;30:71-80.
  • Landrum Peay H, Fischer R, Tzeng JP, Hesterlee SE, Morris C, Martin AS, et al. Gene therapy as a potential therapeutic option for Duchenne muscular dystrophy: A qualitative preference study of patients and parents. PLoS One 2019;14:e0213649.
  • Romitti PA, Zhu Y, Puzhankara S, James KA, Nabukera SK, Zamba GK, et al. Prevalence of Duchenne and Becker muscular dystrophies in the United States. Pediatrics 2015;135:513-21.
  • 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 J Rare Dis 2017;12:79.
  • Bradley WG, Jones MZ, Mussini JM, Fawcett PR. Becker-type muscular dystrophy. Muscle Nerve 1978;1:111-32.
  • Basil T Darras M. Duchenne and Becker muscular dystrophy: Clinical features and diagnosis. UpToDate Published online 2023.
  • Darras BT, Urion DK, Ghosh PS. Dystrophinopathies Summary Genetic counseling GeneReview Scope. GeneReviews Published online 2018:1-35.
  • Banihani R, Smile S, Yoon G, Dupuis A, Mosleh M, Snider A, et al. Cognitive and Neurobehavioral Profile in Boys With Duchenne Muscular Dystrophy. J Child Neurol 2015;30:1472-82.
  • Mavrogeni S, Markousis-Mavrogenis G, Papavasiliou A, Kolovou G. Cardiac involvement in Duchenne and Becker muscular dystrophy. World J Cardiol 2015;7:410-4.
  • Paternostro-Sluga T, Grim-Stieger M, Posch M, Schuhfried O, Vacariu G, Mittermaier C, et al. Reliability and validity of the Medical Research Council (MRC) scale and a modified scale for testing muscle strength in patients with radial palsy. J Rehabil Med. 2008;40:665-71.
  • Lee T, Takeshima Y, Kusunoki N, Awano H, Yagi M, Matsuo M, et al. Differences in carrier frequency between mothers of Duchenne and Becker muscular dystrophy patients. J Hum Genet 2014;59:46-50.
  • Zimowski JG, Pilch J, Pawelec M, Purzycka JK, Kubalska J, Ziora-Jakutowicz K, et al. A rare subclinical or mild type of Becker muscular dystrophy caused by a single exon 48 deletion of the dystrophin gene. J Appl Genet 2017;58:343-7.
  • Ciafaloni E, Fox DJ, Pandya S, Westfield CP, Puzhankara S, Romitti PA, et al. Delayed diagnosis in duchenne muscular dystrophy: data from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet). J Pediatr 2009;155:380-5.
  • Angelini C, Marozzo R, Pegoraro V. Current and emerging therapies in Becker muscular dystrophy (BMD). Acta Myol 2019;38:172-9.
  • Hoffman EP, Fischbeck KH, Brown RH, Johnson M, Medori R, Loike JD, et al. Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne’s or Becker’s muscular dystrophy. N Engl J Med 1988;318:1363-8.
  • Gao QQ, McNally EM. The Dystrophin Complex: Structure, Function, and Implications for Therapy. Compr Physiol 2015;5:1223-39.
  • van den Bergen JC, Wokke BH, Janson AA, van Duinen SG, Hulsker MA, Ginjaar HB, et al. Dystrophin levels and clinical severity in Becker muscular dystrophy patients. J Neurol Neurosurg Psychiatry 2014;85:747-53.
  • Angelini C, Fanin M, Pegoraro E, Freda MP, Cadaldini M, Martinello F. Clinical-molecular correlation in 104 mild X-linked muscular dystrophy patients: characterization of sub-clinical phenotypes. Neuromuscul Disord 1994;4:349-58.
  • Angelini C, Fanin M, Freda MP, Martinello F, Miorin M, Melacini P, et al. Prognostic factors in mild dystrophinopathies. J Neurol Sci 1996;142:70-8.
  • Monaco AP, Bertelson CJ, Liechti-Gallati S, Moser H, Kunkel LM. An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus. Genomics 1988;2:90-5.
  • Kesari A, Pirra LN, Bremadesam L, McIntyre O, Gordon E, Dubrovsky AL, et al. Integrated DNA, cDNA, and protein studies in Becker muscular dystrophy show high exception to the reading frame rule. Hum Mutat 2008;29:728-37.
  • Zambon AA, Waldrop MA, Alles R, Weiss RB, Conroy S, Moore-Clingenpeel M, et al. Phenotypic Spectrum of Dystrophinopathy Due to Duchenne Muscular Dystrophy Exon 2 Duplications. Neurology 2022;98:e730-e8.
  • Vengalil S, Preethish-Kumar V, Polavarapu K, Mahadevappa M, Sekar D, Purushottom M, et al. Duchenne Muscular Dystrophy and Becker Muscular Dystrophy Confirmed by Multiplex Ligation-Dependent Probe Amplification: Genotype-Phenotype Correlation in a Large Cohort. J Clin Neurol 2017;13:91-7.
  • Silvestri NJ, Ismail H, Zimetbaum P, Raynor EM. Cardiac involvement in the muscular dystrophies. Muscle Nerve 2018;57:707-15.
  • Melacini P, Fanin M, Danieli GA, Fasoli G, Villanova C, Angelini C, et al. Cardiac involvement in Becker muscular dystrophy. J Am Coll Cardiol 1993;22:1927-34.
  • Ishizaki M, Fujimoto A, Ueyama H, Nishida Y, Imamura S, Uchino M, et al. Life-threatening Arrhythmias in a Becker Muscular Dystrophy Family due to the Duplication of Exons 3-4 of the Dystrophin Gene. Intern Med 2015;54:3075-8.
  • Aranmolate A, Tse N, Colognato H. Myelination is delayed during postnatal brain development in the mdx mouse model of Duchenne muscular dystrophy. BMC Neurosci 2017;18:63.
  • Rae MG, O’Malley D. Cognitive dysfunction in Duchenne muscular dystrophy: a possible role for neuromodulatory immune molecules. J Neurophysiol 2016;116:1304-15.
  • García-Cruz C, Merino-Jiménez C, Ceja V, Aragon J, Siqueiros-Marquez L, Reyes-Grajeda JP, et al. The dystrophin isoform Dp71e(Δ71) is involved in neurite outgrowth and neuronal differentiation of PC12 cells. J Proteomics 2019;191:80-7.
  • Pezzoni L, Brusa R, Difonzo T, Magri F, Velardo D, Corti S, et al. Cognitive abnormalities in Becker muscular dystrophy: a mysterious link between dystrophin deficiency and executive functions. Neurol Sci 2024;45:1691-8.
  • Young HK, Barton BA, Waisbren S, Portales Dale L, Ryan MM, Webster RI, et al. Cognitive and psychological profile of males with Becker muscular dystrophy. J Child Neurol 2008;23:155-62.
  • Lambert JT, Darmahkasih AJ, Horn PS, Rybalsky I, Shellenbarger KC, Tian C, et al. Neurodevelopmental, behavioral, and emotional symptoms in Becker muscular dystrophy. Muscle Nerve 2020;61:156-62.
  • Mori-Yoshimura M, Mizuno Y, Yoshida S, Yoshida S, Ishihara N, Minami N, et al. Psychiatric and neurodevelopmental aspects of Becker muscular dystrophy. Neuromuscul Disord 2019;29:930-9.
  • Thangarajh M, Hendriksen J, McDermott MP, Martens W, Hart KA, Griggs RC. Relationships between DMD mutations and neurodevelopment in dystrophinopathy. Neurology 2019;93:e1597-e604.

Year 2025, Volume: 19 Issue: 3, 123 - 129, 14.05.2025

Yiğithan Güzin , Deniz Sevcan Doğan , Gamze Sarıkaya Uzan , Gizem Doğan , Bakiye Tunçay , Berk Özyılmaz , Figen Baydan

https://doi.org/10.12956/tchd.1557901

Abstract

Supporting Institution

yoktur

References

  • Thada PK, Bhandari J, Forshaw KC, Umapathi KK. Becker Muscular Dystrophy. Published online 2024:1-10.
  • Andrew LaPelusa; Ria Monica D. Asuncion; Michael Kentris . Muscular Dystrophy. Published online 2024:1-31.
  • Fox H, Millington L, Mahabeer I, van Ruiten H. Duchenne muscular dystrophy. BMJ 2020;368:l7012.
  • Cai A, Kong X. Development of CRISPR-Mediated Systems in the Study of Duchenne Muscular Dystrophy. Hum Gene Ther Methods 2019;30:71-80.
  • Landrum Peay H, Fischer R, Tzeng JP, Hesterlee SE, Morris C, Martin AS, et al. Gene therapy as a potential therapeutic option for Duchenne muscular dystrophy: A qualitative preference study of patients and parents. PLoS One 2019;14:e0213649.
  • Romitti PA, Zhu Y, Puzhankara S, James KA, Nabukera SK, Zamba GK, et al. Prevalence of Duchenne and Becker muscular dystrophies in the United States. Pediatrics 2015;135:513-21.
  • 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 J Rare Dis 2017;12:79.
  • Bradley WG, Jones MZ, Mussini JM, Fawcett PR. Becker-type muscular dystrophy. Muscle Nerve 1978;1:111-32.
  • Basil T Darras M. Duchenne and Becker muscular dystrophy: Clinical features and diagnosis. UpToDate Published online 2023.
  • Darras BT, Urion DK, Ghosh PS. Dystrophinopathies Summary Genetic counseling GeneReview Scope. GeneReviews Published online 2018:1-35.
  • Banihani R, Smile S, Yoon G, Dupuis A, Mosleh M, Snider A, et al. Cognitive and Neurobehavioral Profile in Boys With Duchenne Muscular Dystrophy. J Child Neurol 2015;30:1472-82.
  • Mavrogeni S, Markousis-Mavrogenis G, Papavasiliou A, Kolovou G. Cardiac involvement in Duchenne and Becker muscular dystrophy. World J Cardiol 2015;7:410-4.
  • Paternostro-Sluga T, Grim-Stieger M, Posch M, Schuhfried O, Vacariu G, Mittermaier C, et al. Reliability and validity of the Medical Research Council (MRC) scale and a modified scale for testing muscle strength in patients with radial palsy. J Rehabil Med. 2008;40:665-71.
  • Lee T, Takeshima Y, Kusunoki N, Awano H, Yagi M, Matsuo M, et al. Differences in carrier frequency between mothers of Duchenne and Becker muscular dystrophy patients. J Hum Genet 2014;59:46-50.
  • Zimowski JG, Pilch J, Pawelec M, Purzycka JK, Kubalska J, Ziora-Jakutowicz K, et al. A rare subclinical or mild type of Becker muscular dystrophy caused by a single exon 48 deletion of the dystrophin gene. J Appl Genet 2017;58:343-7.
  • Ciafaloni E, Fox DJ, Pandya S, Westfield CP, Puzhankara S, Romitti PA, et al. Delayed diagnosis in duchenne muscular dystrophy: data from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet). J Pediatr 2009;155:380-5.
  • Angelini C, Marozzo R, Pegoraro V. Current and emerging therapies in Becker muscular dystrophy (BMD). Acta Myol 2019;38:172-9.
  • Hoffman EP, Fischbeck KH, Brown RH, Johnson M, Medori R, Loike JD, et al. Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne’s or Becker’s muscular dystrophy. N Engl J Med 1988;318:1363-8.
  • Gao QQ, McNally EM. The Dystrophin Complex: Structure, Function, and Implications for Therapy. Compr Physiol 2015;5:1223-39.
  • van den Bergen JC, Wokke BH, Janson AA, van Duinen SG, Hulsker MA, Ginjaar HB, et al. Dystrophin levels and clinical severity in Becker muscular dystrophy patients. J Neurol Neurosurg Psychiatry 2014;85:747-53.
  • Angelini C, Fanin M, Pegoraro E, Freda MP, Cadaldini M, Martinello F. Clinical-molecular correlation in 104 mild X-linked muscular dystrophy patients: characterization of sub-clinical phenotypes. Neuromuscul Disord 1994;4:349-58.
  • Angelini C, Fanin M, Freda MP, Martinello F, Miorin M, Melacini P, et al. Prognostic factors in mild dystrophinopathies. J Neurol Sci 1996;142:70-8.
  • Monaco AP, Bertelson CJ, Liechti-Gallati S, Moser H, Kunkel LM. An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus. Genomics 1988;2:90-5.
  • Kesari A, Pirra LN, Bremadesam L, McIntyre O, Gordon E, Dubrovsky AL, et al. Integrated DNA, cDNA, and protein studies in Becker muscular dystrophy show high exception to the reading frame rule. Hum Mutat 2008;29:728-37.
  • Zambon AA, Waldrop MA, Alles R, Weiss RB, Conroy S, Moore-Clingenpeel M, et al. Phenotypic Spectrum of Dystrophinopathy Due to Duchenne Muscular Dystrophy Exon 2 Duplications. Neurology 2022;98:e730-e8.
  • Vengalil S, Preethish-Kumar V, Polavarapu K, Mahadevappa M, Sekar D, Purushottom M, et al. Duchenne Muscular Dystrophy and Becker Muscular Dystrophy Confirmed by Multiplex Ligation-Dependent Probe Amplification: Genotype-Phenotype Correlation in a Large Cohort. J Clin Neurol 2017;13:91-7.
  • Silvestri NJ, Ismail H, Zimetbaum P, Raynor EM. Cardiac involvement in the muscular dystrophies. Muscle Nerve 2018;57:707-15.
  • Melacini P, Fanin M, Danieli GA, Fasoli G, Villanova C, Angelini C, et al. Cardiac involvement in Becker muscular dystrophy. J Am Coll Cardiol 1993;22:1927-34.
  • Ishizaki M, Fujimoto A, Ueyama H, Nishida Y, Imamura S, Uchino M, et al. Life-threatening Arrhythmias in a Becker Muscular Dystrophy Family due to the Duplication of Exons 3-4 of the Dystrophin Gene. Intern Med 2015;54:3075-8.
  • Aranmolate A, Tse N, Colognato H. Myelination is delayed during postnatal brain development in the mdx mouse model of Duchenne muscular dystrophy. BMC Neurosci 2017;18:63.
  • Rae MG, O’Malley D. Cognitive dysfunction in Duchenne muscular dystrophy: a possible role for neuromodulatory immune molecules. J Neurophysiol 2016;116:1304-15.
  • García-Cruz C, Merino-Jiménez C, Ceja V, Aragon J, Siqueiros-Marquez L, Reyes-Grajeda JP, et al. The dystrophin isoform Dp71e(Δ71) is involved in neurite outgrowth and neuronal differentiation of PC12 cells. J Proteomics 2019;191:80-7.
  • Pezzoni L, Brusa R, Difonzo T, Magri F, Velardo D, Corti S, et al. Cognitive abnormalities in Becker muscular dystrophy: a mysterious link between dystrophin deficiency and executive functions. Neurol Sci 2024;45:1691-8.
  • Young HK, Barton BA, Waisbren S, Portales Dale L, Ryan MM, Webster RI, et al. Cognitive and psychological profile of males with Becker muscular dystrophy. J Child Neurol 2008;23:155-62.
  • Lambert JT, Darmahkasih AJ, Horn PS, Rybalsky I, Shellenbarger KC, Tian C, et al. Neurodevelopmental, behavioral, and emotional symptoms in Becker muscular dystrophy. Muscle Nerve 2020;61:156-62.
  • Mori-Yoshimura M, Mizuno Y, Yoshida S, Yoshida S, Ishihara N, Minami N, et al. Psychiatric and neurodevelopmental aspects of Becker muscular dystrophy. Neuromuscul Disord 2019;29:930-9.
  • Thangarajh M, Hendriksen J, McDermott MP, Martens W, Hart KA, Griggs RC. Relationships between DMD mutations and neurodevelopment in dystrophinopathy. Neurology 2019;93:e1597-e604.
There are 37 citations in total.

Details

Primary Language English
Subjects ​Internal Diseases
Journal Section ORIGINAL ARTICLES
Authors

Yiğithan Güzin 0000-0002-8748-5586

Deniz Sevcan Doğan 0009-0001-3063-2741

Gamze Sarıkaya Uzan 0000-0002-5028-9995

Gizem Doğan 0000-0002-2913-717X

Bakiye Tunçay 0000-0003-0475-4240

Berk Özyılmaz 0000-0003-2654-3698

Figen Baydan 0000-0001-6853-6555

Publication Date May 14, 2025
Submission Date October 2, 2024
Acceptance Date December 23, 2024
Published in Issue Year 2025 Volume: 19 Issue: 3

Cite

APA Güzin, Y., Doğan, D. S., Sarıkaya Uzan, G., Doğan, G., et al. (2025). Clinical and Demographic Characteristics of Becker Muscular Dystrophy Cases. Türkiye Çocuk Hastalıkları Dergisi, 19(3), 123-129. https://doi.org/10.12956/tchd.1557901
AMA Güzin Y, Doğan DS, Sarıkaya Uzan G, Doğan G, Tunçay B, Özyılmaz B, Baydan F. Clinical and Demographic Characteristics of Becker Muscular Dystrophy Cases. Turkish J Pediatr Dis. May 2025;19(3):123-129. doi:10.12956/tchd.1557901
Chicago Güzin, Yiğithan, Deniz Sevcan Doğan, Gamze Sarıkaya Uzan, Gizem Doğan, Bakiye Tunçay, Berk Özyılmaz, and Figen Baydan. “Clinical and Demographic Characteristics of Becker Muscular Dystrophy Cases”. Türkiye Çocuk Hastalıkları Dergisi 19, no. 3 (May 2025): 123-29. https://doi.org/10.12956/tchd.1557901.
EndNote Güzin Y, Doğan DS, Sarıkaya Uzan G, Doğan G, Tunçay B, Özyılmaz B, Baydan F (May 1, 2025) Clinical and Demographic Characteristics of Becker Muscular Dystrophy Cases. Türkiye Çocuk Hastalıkları Dergisi 19 3 123–129.
IEEE Y. Güzin, D. S. Doğan, G. Sarıkaya Uzan, G. Doğan, B. Tunçay, B. Özyılmaz, and F. Baydan, “Clinical and Demographic Characteristics of Becker Muscular Dystrophy Cases”, Turkish J Pediatr Dis, vol. 19, no. 3, pp. 123–129, 2025, doi: 10.12956/tchd.1557901.
ISNAD Güzin, Yiğithan et al. “Clinical and Demographic Characteristics of Becker Muscular Dystrophy Cases”. Türkiye Çocuk Hastalıkları Dergisi 19/3 (May 2025), 123-129. https://doi.org/10.12956/tchd.1557901.
JAMA Güzin Y, Doğan DS, Sarıkaya Uzan G, Doğan G, Tunçay B, Özyılmaz B, Baydan F. Clinical and Demographic Characteristics of Becker Muscular Dystrophy Cases. Turkish J Pediatr Dis. 2025;19:123–129.
MLA Güzin, Yiğithan et al. “Clinical and Demographic Characteristics of Becker Muscular Dystrophy Cases”. Türkiye Çocuk Hastalıkları Dergisi, vol. 19, no. 3, 2025, pp. 123-9, doi:10.12956/tchd.1557901.
Vancouver Güzin Y, Doğan DS, Sarıkaya Uzan G, Doğan G, Tunçay B, Özyılmaz B, Baydan F. Clinical and Demographic Characteristics of Becker Muscular Dystrophy Cases. Turkish J Pediatr Dis. 2025;19(3):123-9.
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