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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

EMQN best practice guidelines for genetic testing in dystrophinopathies.
Fratter C, Dalgleish R, Allen SK, Santos R, Abbs S, Tuffery-Giraud S, Ferlini A
Eur J Hum Genet 2020 Sep;28(9):1141-1159. Epub 2020 May 18 doi: 10.1038/s41431-020-0643-7. PMID: 32424326Free PMC Article
Prenatal diagnosis of congenital myopathies and muscular dystrophies.
Massalska D, Zimowski JG, Bijok J, Kucińska-Chahwan A, Łusakowska A, Jakiel G, Roszkowski T
Clin Genet 2016 Sep;90(3):199-210. Epub 2016 Jun 2 doi: 10.1111/cge.12801. PMID: 27197572
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

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
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
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
The muscular dystrophies.
Bushby KM
Baillieres Clin Neurol 1994 Aug;3(2):407-30. PMID: 7952855

Diagnosis

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
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
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
Update in Duchenne and Becker muscular dystrophy.
Waldrop MA, Flanigan KM
Curr Opin Neurol 2019 Oct;32(5):722-727. doi: 10.1097/WCO.0000000000000739. PMID: 31343429
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
Update in Duchenne and Becker muscular dystrophy.
Waldrop MA, Flanigan KM
Curr Opin Neurol 2019 Oct;32(5):722-727. doi: 10.1097/WCO.0000000000000739. PMID: 31343429
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
Genetics and emerging treatments for Duchenne and Becker muscular dystrophy.
Wein N, Alfano L, Flanigan KM
Pediatr Clin North Am 2015 Jun;62(3):723-42. Epub 2015 Apr 20 doi: 10.1016/j.pcl.2015.03.008. PMID: 26022172
Ongoing therapeutic trials and outcome measures for Duchenne muscular dystrophy.
Govoni A, Magri F, Brajkovic S, Zanetta C, Faravelli I, Corti S, Bresolin N, Comi GP
Cell Mol Life Sci 2013 Dec;70(23):4585-602. Epub 2013 Jun 18 doi: 10.1007/s00018-013-1396-z. PMID: 23775131

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
Skeletal Muscle Metabolism in Duchenne and Becker Muscular Dystrophy-Implications for Therapies.
Heydemann A
Nutrients 2018 Jun 20;10(6) doi: 10.3390/nu10060796. PMID: 29925809Free PMC Article
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
The muscular dystrophies.
Bushby KM
Baillieres Clin Neurol 1994 Aug;3(2):407-30. PMID: 7952855

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
Duchenne and Becker muscular dystrophies: an Indian update on genetics and rehabilitation.
Nadkarni JJ, Dastur RS, Viswanathan V, Gaitonde PS, Khadilkar SV
Neurol India 2008 Jul-Sep;56(3):248-53. doi: 10.4103/0028-3886.43442. PMID: 18974550
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

Recent systematic reviews

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 of risk factors associated with muscular dystrophies.
Barakat-Haddad C, Shin S, Candundo H, Lieshout PV, Martino R
Neurotoxicology 2017 Jul;61:55-62. Epub 2016 Mar 24 doi: 10.1016/j.neuro.2016.03.007. PMID: 27018093
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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