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Duchenne and Becker muscular dystrophy

MedGen UID:
762198
•Concept ID:
C3542021
•
Disease or Syndrome
Synonyms: Duchenne and Becker Muscular Dystrophy; Duchenne Becker Muscular Dystrophy; Duchenne-Becker Muscular Dystrophy; Muscular Dystrophy, Duchenne and Becker Types; Muscular Dystrophy, Duchenne-Becker
Modes of inheritance:
X-linked recessive inheritance
MedGen UID:
375779
•Concept ID:
C1845977
•
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
See: This record
X-linked recessive inheritance (Orphanet)
 
Orphanet: ORPHA262

Definition

A group of rare, genetic, progressive muscular dystrophies, including Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD) and a symptomatic form in female carriers. The diseases represent a spectrum of severity ranging from progressive skeletal and cardiac muscle wasting and weakness (DMD, BMD) to less severe muscle weakness or isolated cardiomyopathy affecting carrier females. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDuchenne and Becker muscular dystrophy

Professional guidelines

PubMed

Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy.
Taylor PJ, Maroulis S, Mullan GL, Pedersen RL, Baumli A, Elakis G, Piras S, Walsh C, Prósper-Gutiérrez B, De La Puente-Alonso F, Bell CG, Mowat DR, Johnston HM, Buckley MF
J Med Genet 2007 Jun;44(6):368-72. Epub 2007 Jan 26 doi: 10.1136/jmg.2006.047464. PMID: 17259292Free PMC Article
New treatment alternatives for Duchenne and Becker muscular dystrophy.
Restrepo S
Neurology 2004 Mar 23;62(6):E10. doi: 10.1212/wnl.62.6.e10. PMID: 15037729
Diagnostic criteria for Duchenne and Becker muscular dystrophy.
Miller G
Neuromuscul Disord 1992;2(3):225. doi: 10.1016/0960-8966(92)90010-4. PMID: 1483049

Recent clinical studies

Etiology

A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
Megarbane A, Bizzari S, Deepthi A, Sabbagh S, Mansour H, Chouery E, Hmaimess G, Jabbour R, Mehawej C, Alame S, Hani A, Hasbini D, Ghanem I, Koussa S, Al-Ali MT, Obeid M, Talea DB, Lefranc G, Lévy N, Leturcq F, El Hayek S, Delague V, Urtizberea JA
J Neuromuscul Dis 2022;9(1):193-210. doi: 10.3233/JND-210652. PMID: 34602496Free PMC Article
A systematic review and meta-analysis on the epidemiology of Duchenne and Becker muscular dystrophy.
Mah JK, Korngut L, Dykeman J, Day L, Pringsheim T, Jette N
Neuromuscul Disord 2014 Jun;24(6):482-91. Epub 2014 Mar 22 doi: 10.1016/j.nmd.2014.03.008. PMID: 24780148
Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy.
Taylor PJ, Maroulis S, Mullan GL, Pedersen RL, Baumli A, Elakis G, Piras S, Walsh C, Prósper-Gutiérrez B, De La Puente-Alonso F, Bell CG, Mowat DR, Johnston HM, Buckley MF
J Med Genet 2007 Jun;44(6):368-72. Epub 2007 Jan 26 doi: 10.1136/jmg.2006.047464. PMID: 17259292Free PMC Article
Pilot trial of albuterol in Duchenne and Becker muscular dystrophy.
Fowler EG, Graves MC, Wetzel GT, Spencer MJ
Neurology 2004 Mar 23;62(6):1006-8. doi: 10.1212/01.wnl.0000118530.71646.0f. PMID: 15037714
Limb-girdle muscular dystrophy.
Mathews KD, Moore SA
Curr Neurol Neurosci Rep 2003 Jan;3(1):78-85. doi: 10.1007/s11910-003-0042-9. PMID: 12507416

Diagnosis

Advances in Dystrophinopathy Diagnosis and Therapy.
Saad FA, Siciliano G, Angelini C
Biomolecules 2023 Aug 28;13(9) doi: 10.3390/biom13091319. PMID: 37759719Free PMC Article
Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing events.
Segarra-Casas A, Domínguez-González C, Hernández-Laín A, Sanchez-Calvin MT, Camacho A, Rivas E, Campo-Barasoain A, Madruga M, Ortez C, Natera-de Benito D, Nascimento A, Codina A, Rodriguez MJ, Gallano P, Gonzalez-Quereda L
J Med Genet 2023 Jun;60(6):615-619. Epub 2022 Dec 19 doi: 10.1136/jmg-2022-108828. PMID: 36535754Free PMC Article
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
Megarbane A, Bizzari S, Deepthi A, Sabbagh S, Mansour H, Chouery E, Hmaimess G, Jabbour R, Mehawej C, Alame S, Hani A, Hasbini D, Ghanem I, Koussa S, Al-Ali MT, Obeid M, Talea DB, Lefranc G, Lévy N, Leturcq F, El Hayek S, Delague V, Urtizberea JA
J Neuromuscul Dis 2022;9(1):193-210. doi: 10.3233/JND-210652. PMID: 34602496Free PMC Article
A systematic review and meta-analysis on the epidemiology of Duchenne and Becker muscular dystrophy.
Mah JK, Korngut L, Dykeman J, Day L, Pringsheim T, Jette N
Neuromuscul Disord 2014 Jun;24(6):482-91. Epub 2014 Mar 22 doi: 10.1016/j.nmd.2014.03.008. PMID: 24780148
Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy.
Taylor PJ, Maroulis S, Mullan GL, Pedersen RL, Baumli A, Elakis G, Piras S, Walsh C, Prósper-Gutiérrez B, De La Puente-Alonso F, Bell CG, Mowat DR, Johnston HM, Buckley MF
J Med Genet 2007 Jun;44(6):368-72. Epub 2007 Jan 26 doi: 10.1136/jmg.2006.047464. PMID: 17259292Free PMC Article

Therapy

Advances in Dystrophinopathy Diagnosis and Therapy.
Saad FA, Siciliano G, Angelini C
Biomolecules 2023 Aug 28;13(9) doi: 10.3390/biom13091319. PMID: 37759719Free PMC Article
The Pathogenesis and Therapy of Muscular Dystrophies.
Guiraud S, Aartsma-Rus A, Vieira NM, Davies KE, van Ommen GJ, Kunkel LM
Annu Rev Genomics Hum Genet 2015;16:281-308. Epub 2015 Jun 4 doi: 10.1146/annurev-genom-090314-025003. PMID: 26048046
A systematic review and meta-analysis on the epidemiology of Duchenne and Becker muscular dystrophy.
Mah JK, Korngut L, Dykeman J, Day L, Pringsheim T, Jette N
Neuromuscul Disord 2014 Jun;24(6):482-91. Epub 2014 Mar 22 doi: 10.1016/j.nmd.2014.03.008. PMID: 24780148
New treatment alternatives for Duchenne and Becker muscular dystrophy.
Restrepo S
Neurology 2004 Mar 23;62(6):E10. doi: 10.1212/wnl.62.6.e10. PMID: 15037729
Pilot trial of albuterol in Duchenne and Becker muscular dystrophy.
Fowler EG, Graves MC, Wetzel GT, Spencer MJ
Neurology 2004 Mar 23;62(6):1006-8. doi: 10.1212/01.wnl.0000118530.71646.0f. PMID: 15037714

Prognosis

Global prevalence of Duchenne and Becker muscular dystrophy: a systematic review and meta-analysis.
Salari N, Fatahi B, Valipour E, Kazeminia M, Fatahian R, Kiaei A, Shohaimi S, Mohammadi M
J Orthop Surg Res 2022 Feb 15;17(1):96. doi: 10.1186/s13018-022-02996-8. PMID: 35168641Free PMC Article
Epigenetics of neuromuscular disorders.
Coppedè F
Epigenomics 2020 Dec;12(23):2125-2139. Epub 2020 Nov 6 doi: 10.2217/epi-2020-0282. PMID: 33155830
Duchenne and Becker muscular dystrophy presenting as nonalcoholic fatty liver disease.
Veropalumbo C, Del Giudice E, Capuano G, Gentile C, Di Cosmo N, Vajro P
J Pediatr Gastroenterol Nutr 2011 Oct;53(4):463-4. doi: 10.1097/MPG.0b013e318217f5d9. PMID: 21970998
Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy.
Taylor PJ, Maroulis S, Mullan GL, Pedersen RL, Baumli A, Elakis G, Piras S, Walsh C, Prósper-Gutiérrez B, De La Puente-Alonso F, Bell CG, Mowat DR, Johnston HM, Buckley MF
J Med Genet 2007 Jun;44(6):368-72. Epub 2007 Jan 26 doi: 10.1136/jmg.2006.047464. PMID: 17259292Free PMC Article
Pilot trial of albuterol in Duchenne and Becker muscular dystrophy.
Fowler EG, Graves MC, Wetzel GT, Spencer MJ
Neurology 2004 Mar 23;62(6):1006-8. doi: 10.1212/01.wnl.0000118530.71646.0f. PMID: 15037714

Clinical prediction guides

Global prevalence of Duchenne and Becker muscular dystrophy: a systematic review and meta-analysis.
Salari N, Fatahi B, Valipour E, Kazeminia M, Fatahian R, Kiaei A, Shohaimi S, Mohammadi M
J Orthop Surg Res 2022 Feb 15;17(1):96. doi: 10.1186/s13018-022-02996-8. PMID: 35168641Free PMC Article
Intron mutations and early transcription termination in Duchenne and Becker muscular dystrophy.
Waldrop MA, Moore SA, Mathews KD, Darbro BW, Medne L, Finkel R, Connolly AM, Crawford TO, Drachman D, Wein N, Habib AA, Krzesniak-Swinarska MA, Zaidman CM, Collins JJ, Jokela M, Udd B, Day JW, Ortiz-Guerrero G, Statland J, Butterfield RJ, Dunn DM, Weiss RB, Flanigan KM
Hum Mutat 2022 Apr;43(4):511-528. Epub 2022 Mar 7 doi: 10.1002/humu.24343. PMID: 35165973Free PMC Article
Epigenetics of neuromuscular disorders.
Coppedè F
Epigenomics 2020 Dec;12(23):2125-2139. Epub 2020 Nov 6 doi: 10.2217/epi-2020-0282. PMID: 33155830
Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy.
Taylor PJ, Maroulis S, Mullan GL, Pedersen RL, Baumli A, Elakis G, Piras S, Walsh C, Prósper-Gutiérrez B, De La Puente-Alonso F, Bell CG, Mowat DR, Johnston HM, Buckley MF
J Med Genet 2007 Jun;44(6):368-72. Epub 2007 Jan 26 doi: 10.1136/jmg.2006.047464. PMID: 17259292Free PMC Article
Pilot trial of albuterol in Duchenne and Becker muscular dystrophy.
Fowler EG, Graves MC, Wetzel GT, Spencer MJ
Neurology 2004 Mar 23;62(6):1006-8. doi: 10.1212/01.wnl.0000118530.71646.0f. PMID: 15037714

Recent systematic reviews

Electrophysiologic and cardiovascular manifestations of Duchenne and Becker muscular dystrophies.
Hakimi M, Burnham T, Ramsay J, Cheung JW, Goyal NA, Jefferies JL, Donaldson D
Heart Rhythm 2025 Jan;22(1):192-202. Epub 2024 Jul 10 doi: 10.1016/j.hrthm.2024.07.008. PMID: 38997055
DMD Gene and Dystrophinopathy Phenotypes Associated With Mutations: A Systematic Review for Clinicians.
Andrews JG, Galindo MK, Thomas S, Mathews KD, Whitehead N
J Clin Neuromuscul Dis 2023 Jun 1;24(4):171-187. doi: 10.1097/CND.0000000000000436. PMID: 37219861
Global prevalence of Duchenne and Becker muscular dystrophy: a systematic review and meta-analysis.
Salari N, Fatahi B, Valipour E, Kazeminia M, Fatahian R, Kiaei A, Shohaimi S, Mohammadi M
J Orthop Surg Res 2022 Feb 15;17(1):96. doi: 10.1186/s13018-022-02996-8. PMID: 35168641Free PMC Article
Instruments for the Assessment of Behavioral and Psychosocial Functioning in Duchenne and Becker Muscular Dystrophy; a Systematic Review of the Literature.
Hellebrekers DMJ, Lionarons JM, Faber CG, Klinkenberg S, Vles JSH, Hendriksen JGM
J Pediatr Psychol 2019 Nov 1;44(10):1205-1223. doi: 10.1093/jpepsy/jsz062. PMID: 31429914
A systematic review and meta-analysis on the epidemiology of Duchenne and Becker muscular dystrophy.
Mah JK, Korngut L, Dykeman J, Day L, Pringsheim T, Jette N
Neuromuscul Disord 2014 Jun;24(6):482-91. Epub 2014 Mar 22 doi: 10.1016/j.nmd.2014.03.008. PMID: 24780148

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