U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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
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
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
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
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
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
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
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

Prognosis

Duchenne and Becker muscular dystrophy: Cellular mechanisms, image analysis, and computational models: A review.
Escobar-Huertas JF, Vaca-González JJ, Guevara JM, Ramirez-Martinez AM, Trabelsi O, Garzón-Alvarado DA
Cytoskeleton (Hoboken) 2024 Jun-Jul;81(6-7):269-286. Epub 2024 Jan 15 doi: 10.1002/cm.21826. PMID: 38224155
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

Clinical prediction guides

Mutation spectrum analysis of DMD gene in Indonesian Duchenne and Becker muscular dystrophy patients.
Dwianingsih EK, Iskandar K, Hapsara S, Ping Liu C, Malueka RG, Gunadi, Matsuo M, Lai PS
F1000Res 2022;11:148. Epub 2023 Nov 17 doi: 10.12688/f1000research.73476.3. PMID: 38009102Free PMC Article
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

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

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...