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A Guide to Becker Muscular Dystrophy (Patient Brochure)

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Diagnosis and Management Guide for Families

Becker Muscular Dystrophy Clinical Trials

Becker Muscular Dystrophy Clinical Trials

Video Library

Becker Muscular Dystrophy Video Library

Patient Advocacy

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Genetic Testing

References

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  2. Bello L, Campadello P, Barp A, Fanin M, Semplicini C, Sorarù G, Caumo L, Calore C, Angelini C, Pegoraro E. Functional changes in Becker muscular dystrophy: implications for clinical trials in dystrophinopathies. Sci Rep. 2016 Sep 1;6:32439.
  3. Magot A, Wahbi K, Leturcq F, Jaffre S, Péréon Y, Sole G; French BMD working group. Diagnosis and management of Becker muscular dystrophy: the French guidelines. J Neurol. 2023 Oct;270(10):4763-4781. doi: 10.1007/s00415-023-11837-5. Epub 2023 Jul 9. PMID: 37422773.
  4. Aartsma-Rus A, Ginjaar IB, Bushby K. The importance of genetic diagnosis for Duchenne muscular dystrophy. J Med Genet. 2016 Mar;53(3):145-51. doi: 10.1136/jmedgenet-2015-103387. Epub 2016 Jan 11. PMID: 26754139; PMCID: PMC4789806.
  5. Bushby KM, Gardner-Medwin D. The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy. I. Natural history. J Neurol. 1993 Feb;240(2):98-104. doi: 10.1007/BF00858725. Erratum in: J Neurol 1993 Jul;240(7):453. PMID: 8437027.
  6. De Wel B, Willaert S, Nadaj-Pakleza A, Aubé-Nathier AC, Testelmans D, Buyse B, Claeys KG. Respiratory decline in adult patients with Becker muscular dystrophy: A longitudinal study. Neuromuscul Disord. 2021 Mar;31(3):174-182. doi: 10.1016/j.nmd.2020.12.010. Epub 2020 Dec 26. PMID: 33454189.
  7. van de Velde NM, Hooijmans MT, Sardjoe Mishre ASD, Keene KR, Koeks Z, Veeger TTJ, Alleman I, van Zwet EW, Beenakker JM, Verschuuren JJGM, Kan HE, Niks EH. Selection Approach to Identify the Optimal Biomarker Using Quantitative Muscle MRI and Functional Assessments in Becker Muscular Dystrophy. Neurology. 2021 Aug 3;97(5):e513-e522. doi: 10.1212/WNL.0000000000012233. Epub 2021 Jun 23. PMID: 34162720; PMCID: PMC8356376.
  8. MacDougall, et al., 2024, March. North Star (NSAA and NSAD) Functional Assessments in Individuals with Becker Muscular Dystrophy https://edgewisetx.com/wp-content/uploads/2024/08/MDA_NSAA_Baseline_Poster_-_FINAL.pdf
  9. Petrof BJ, Shrager JB, Stedman HH, Kelly AM, Sweeney HL. Dystrophin protects the sarcolemma from stresses developed during muscle contraction. Proc Natl Acad Sci U S A. 1993 Apr 15;90(8):3710-4. doi: 10.1073/pnas.90.8.3710. PMID: 8475120; PMCID: PMC46371.
  10. Aartsma-Rus A, Van Deutekom JC, Fokkema IF, Van Ommen GJ, Den Dunnen JT. Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule. Muscle Nerve. 2006 Aug;34(2):135-44. doi: 10.1002/mus.20586. PMID: 16770791.
  11. Rajdev A, Groh WJ. Arrhythmias in the muscular dystrophies. Card Electrophysiol Clin. 2015 Jun;7(2):303-8. doi: 10.1016/j.ccep.2015.03.011. Epub 2015 Mar 29. PMID: 26002394; PMCID: PMC4441951.
  12. Ho R, Nguyen ML, Mather P. Cardiomyopathy in becker muscular dystrophy: Overview. World J Cardiol. 2016 Jun 26;8(6):356-61. doi: 10.4330/wjc.v8.i6.356. PMID: 27354892; PMCID: PMC4919702.
  13. Finsterer J, Stöllberger C. Cardiac involvement in Becker muscular dystrophy. Can J Cardiol. 2008 Oct;24(10):786-92. doi: 10.1016/s0828-282x(08)70686-x. PMID: 18841259; PMCID: PMC2643160.
  14. Angelini C, Marozzo R, Pegoraro V. Current and emerging therapies in Becker muscular dystrophy (BMD). Acta Myol. 2019 Sep 1;38(3):172-179. PMID: 31788661; PMCID: PMC6859412.
  15. McDonald CM. Clinical approach to the diagnostic evaluation of hereditary and acquired neuromuscular diseases. Phys Med Rehabil Clin N Am. 2012 Aug;23(3):495-563. doi: 10.1016/j.pmr.2012.06.011. PMID: 22938875; PMCID: PMC3482409.
  16. Magliano L, Scutifero M, Patalano M, Sagliocchi A, Zaccaro A, Civati F, Brighina E, Vita G, Messina S, Sframeli M, Lombardo ME, Scalise R, Colia G, Catteruccia M, Berardinelli A, Motta MC, Gaiani A, Semplicini C, Bello L, Astrea G, Ricci G, D’Angelo MG, Vita G, Pane M, D’Amico A, Balottin U, Angelini C, Battini R, Politano L. Integrated care of muscular dystrophies in Italy. Part 2. Psychological treatments, social and welfare support, and financial costs. Acta Myol. 2017 Jun;36(2):41-45. Erratum in: Acta Myol. 2017 Sep 01;36(3):183. PMID: 28781515; PMCID: PMC5530600.
  17. Latimer R, Street N, Conway KC, James K, Cunniff C, Oleszek J, Fox D, Ciafaloni E, Westfield C, Paramsothy P; Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STAR net). Secondary Conditions Among Males With Duchenne or Becker Muscular Dystrophy. J Child Neurol. 2017 Jun;32(7):663-670. doi: 10.1177/0883073817701368. Epub 2017 Apr 9. PMID: 28393671; PMCID: PMC5502756.
  18. Donovan, J. et al. P.25 Patient-reported aspects of Becker muscular dystrophy from the Duchenne registry, a registry for Duchenne and Becker muscular dystrophy (BMD). Neuromuscular Disorders, Volume 32, S52 – S53.
  19. Riguzzi, P. et al.320P Clinical characterization of a large single-centre cohort of patients with Becker muscular dystrophy. Neuromuscular Disorders, Volume 43, 104441.651
  20. Del Rio-Pertuz G, Morataya C, Parmar K, Dubay S, Argueta-Sosa E. Dilated cardiomyopathy as the initial presentation of Becker muscular dystrophy: a systematic review of published cases. Orphanet J Rare Dis. 2022 May 12;17(1):194. doi: 10.1186/s13023-022-02346-1. PMID: 35549971; PMCID: PMC9097097.
  21. Duan D, Goemans N, Takeda S, Mercuri E, Aartsma-Rus A. Duchenne muscular dystrophy. Nat Rev Dis Primers. 2021 Feb 18;7(1):13. doi: 10.1038/s41572-021-00248-3. PMID: 33602943; PMCID: PMC10557455.
  22. Matthews DJ, James KA, Miller LA, Pandya S, Campbell KA, Ciafaloni E, Mathews KD, Miller TM, Cunniff C, Meaney FJ, Druschel CM, Romitti PA, Fox DJ; MD STARnet. Use of corticosteroids in a population-based cohort of boys with Duchenne and Becker muscular dystrophy. J Child Neurol. 2010 Nov;25(11):1319-24. doi: 10.1177/0883073810362762. Epub 2010 Mar 5. PMID: 20207610; PMCID: PMC5882203.
  23. Cowen L, Mancini M, Martin A, Lucas A, Donovan JM. Variability and trends in corticosteroid use by male United States participants with Duchenne muscular dystrophy in the Duchenne Registry. BMC Neurol. 2019 May 2;19(1):84. doi: 10.1186/s12883-019-1304-8. PMID: 31046703; PMCID: PMC6498563.
  24. Cruz Guzmán Odel R, Chávez García AL, Rodríguez-Cruz M. Muscular dystrophies at different ages: metabolic and endocrine alterations. Int J Endocrinol. 2012;2012:485376. doi: 10.1155/2012/485376. Epub 2012 Jun 3. PMID: 22701119; PMCID: PMC3371686.
  25. Benjamin. 2023. Becker Muscular Dystrophy Workup https://emedicine.medscape.com/article/313417-workup.
  26. American Academy of Neurology Muscular Dystrophy Quality Measurement Set https://www.aan.com/link/73747217993f44e48e17d5073ba432b4.aspx. 2012.
  27. Romitti PA, Zhu Y, Puzhankara S, James KA, Nabukera SK, Zamba GK, Ciafaloni E, Cunniff C, Druschel CM, Mathews KD, Matthews DJ, Meaney FJ, Andrews JG, Conway KM, Fox DJ, Street N, Adams MM, Bolen J; MD STARnet. Prevalence of Duchenne and Becker muscular dystrophies in the United States. Pediatrics. 2015 Mar;135(3):513-21. doi: 10.1542/peds.2014-2044. Epub 2015 Feb 16. Erratum in: Pediatrics. 2015 May;135(5):945. doi: 10.1542/peds.2015-0652. PMID: 25687144; PMCID: PMC4477633.