Duchenne muscular dystrophy.
Journal
Nature reviews. Disease primers
ISSN: 2056-676X
Titre abrégé: Nat Rev Dis Primers
Pays: England
ID NLM: 101672103
Informations de publication
Date de publication:
18 02 2021
18 02 2021
Historique:
accepted:
22
01
2021
entrez:
19
2
2021
pubmed:
20
2
2021
medline:
26
11
2021
Statut:
epublish
Résumé
Duchenne muscular dystrophy is a severe, progressive, muscle-wasting disease that leads to difficulties with movement and, eventually, to the need for assisted ventilation and premature death. The disease is caused by mutations in DMD (encoding dystrophin) that abolish the production of dystrophin in muscle. Muscles without dystrophin are more sensitive to damage, resulting in progressive loss of muscle tissue and function, in addition to cardiomyopathy. Recent studies have greatly deepened our understanding of the primary and secondary pathogenetic mechanisms. Guidelines for the multidisciplinary care for Duchenne muscular dystrophy that address obtaining a genetic diagnosis and managing the various aspects of the disease have been established. In addition, a number of therapies that aim to restore the missing dystrophin protein or address secondary pathology have received regulatory approval and many others are in clinical development.
Identifiants
pubmed: 33602943
doi: 10.1038/s41572-021-00248-3
pii: 10.1038/s41572-021-00248-3
pmc: PMC10557455
mid: NIHMS1934855
doi:
Substances chimiques
Dystrophin
0
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
13Subventions
Organisme : NIAMS NIH HHS
ID : R01 AR069085
Pays : United States
Organisme : NIAMS NIH HHS
ID : R01 AR070517
Pays : United States
Organisme : NINDS NIH HHS
ID : R01 NS090634
Pays : United States
Références
J Clin Med. 2019 May 10;8(5):
pubmed: 31083420
Mol Ther. 2015 Jan;23(1):192-201
pubmed: 25322757
Muscle Nerve. 2014 Jun;49(6):822-8
pubmed: 24307279
Lancet Neurol. 2018 Mar;17(3):251-267
pubmed: 29395989
JAMA Neurol. 2016 Jan;73(1):111-6
pubmed: 26594870
Cells. 2020 Jul 09;9(7):
pubmed: 32660168
Compr Physiol. 2018 Sep 14;8(4):1313-1356
pubmed: 30215857
Arch Phys Med Rehabil. 2015 Jul;96(7):1242-7
pubmed: 25731937
Hum Gene Ther. 2018 Jul;29(7):737-748
pubmed: 29433343
Pediatr Int. 2010 Aug;52(4):648-52
pubmed: 20136722
Cell Mol Life Sci. 2008 Jun;65(11):1621-5
pubmed: 18327663
Lancet. 2019 Nov 30;394(10213):2025-2038
pubmed: 31789220
J Cell Sci. 2013 Dec 1;126(Pt 23):5325-33
pubmed: 24293330
Neuromuscul Disord. 2007 Oct;17(9-10):721-2
pubmed: 17651971
Soc Sci Med. 1999 Apr;48(8):977-88
pubmed: 10390038
Neurogenetics. 2005 Feb;6(1):29-35
pubmed: 15655674
Neuromuscul Disord. 2018 Jan;28(1):4-15
pubmed: 29203355
Anaesth Crit Care Pain Med. 2020 Jun;39(3):333-339
pubmed: 32426441
Am Heart J. 2007 Sep;154(3):596-602
pubmed: 17719312
Muscle Nerve. 2012 Sep;46(3):351-9
pubmed: 22907225
Development. 1992 Feb;114(2):395-402
pubmed: 1592000
Nat Neurosci. 1999 Jul;2(7):611-7
pubmed: 10404183
Mol Ther. 2020 Mar 4;28(3):845-854
pubmed: 31981493
Hum Mutat. 2015 Apr;36(4):395-402
pubmed: 25604253
Heart. 2008 May;94(5):633-6
pubmed: 17932095
J Cell Biol. 2001 Jul 23;154(2):435-45
pubmed: 11470830
J Cell Physiol. 2009 May;219(2):402-14
pubmed: 19117013
Am J Hum Genet. 2016 Nov 3;99(5):1163-1171
pubmed: 27745838
J Genet. 2004 Dec;83(3):235-44
pubmed: 15689625
Muscle Nerve. 2017 Apr;55(4):458-464
pubmed: 27462804
Proc Natl Acad Sci U S A. 2020 Jul 14;117(28):16456-16464
pubmed: 32616572
Mol Ther Nucleic Acids. 2016 Jan 26;5:e283
pubmed: 26812655
Neuromuscul Disord. 2020 Jun;30(6):437-442
pubmed: 32522501
Neuromuscul Disord. 2019 Aug;29(8):569-575
pubmed: 31395305
Neuromuscul Disord. 2007 Jun;17(6):470-5
pubmed: 17490881
Biochem Biophys Res Commun. 2010 Jan 1;391(1):812-7
pubmed: 19945424
J Neuromuscul Dis. 2019;6(1):147-159
pubmed: 30614809
JAMA Neurol. 2020 Sep 1;77(9):1122-1131
pubmed: 32539076
Biochim Biophys Acta Mol Cell Res. 2018 Nov;1865(11 Pt B):1687-1697
pubmed: 30040966
Clin Pharmacol Drug Dev. 2019 Oct;8(7):922-933
pubmed: 30650257
Mol Neurobiol. 2010 Feb;41(1):1-21
pubmed: 19899002
J Muscle Res Cell Motil. 2013 Feb;34(1):1-13
pubmed: 23104273
Cardiovasc Res. 2013 Mar 15;97(4):666-75
pubmed: 23263329
J Neurol Neurosurg Psychiatry. 2013 Jun;84(6):698-705
pubmed: 23250964
Rinsho Shinkeigaku. 2012;52(4):211-7
pubmed: 22531652
Expert Opin Biol Ther. 2017 Feb;17(2):225-236
pubmed: 27936976
Proc Natl Acad Sci U S A. 2000 Dec 5;97(25):13818-23
pubmed: 11087833
Science. 2011 Sep 9;333(6048):1440-5
pubmed: 21903813
Lancet Neurol. 2018 May;17(5):445-455
pubmed: 29398641
J Med Genet. 1965 Mar;2(1):38-46
pubmed: 14296923
Neuromuscul Disord. 2015 Jan;25(1):5-13
pubmed: 25497400
Nat Med. 2014 Sep;20(9):992-1000
pubmed: 25108525
Pediatrics. 2018 Oct;142(Suppl 2):S72-S81
pubmed: 30275251
J Biol Chem. 2008 Mar 28;283(13):8070-4
pubmed: 18252718
J Neurol. 2011 Sep;258(9):1610-23
pubmed: 21399986
Lancet. 2018 Feb 3;391(10119):451-461
pubmed: 29174484
Ann Neurol. 2010 Jun;67(6):771-80
pubmed: 20517938
Genomics. 1988 Jan;2(1):90-5
pubmed: 3384440
J Biol Chem. 2018 May 4;293(18):6637-6646
pubmed: 29535188
Hum Mol Genet. 2016 Sep 1;25(17):3647-3653
pubmed: 27378693
Neurology. 2019 Sep 24;93(13):e1312-e1323
pubmed: 31451516
J Biol Chem. 1996 May 24;271(21):12364-71
pubmed: 8647839
Nat Commun. 2015 Feb 18;6:6244
pubmed: 25692716
EMBO Mol Med. 2013 Oct;5(10):1569-85
pubmed: 24014378
Hum Genet. 1986 Oct;74(2):193-6
pubmed: 2876949
J Neuromuscul Dis. 2019;6(1):43-54
pubmed: 30452422
Ann Phys Rehabil Med. 2013 Sep;56(6):443-54
pubmed: 23876223
J Am Coll Cardiol. 2005 Mar 15;45(6):855-7
pubmed: 15766818
J Hum Genet. 2017 Apr;62(4):459-463
pubmed: 27974813
Hum Mol Genet. 1992 Oct;1(7):505-10
pubmed: 1307251
Redox Biol. 2020 Oct;37:101730
pubmed: 33002761
Mol Ther. 2019 Sep 4;27(9):1568-1585
pubmed: 31327755
Circulation. 2015 May 5;131(18):1590-8
pubmed: 25940966
Circ Res. 1993 Feb;72(2):349-60
pubmed: 8418988
Genet Med. 2019 Dec;21(12):2774-2780
pubmed: 31197268
Sci Rep. 2016 Sep 01;6:32439
pubmed: 27582364
Medicine (Baltimore). 2019 Jun;98(26):e15858
pubmed: 31261494
Neuromuscul Disord. 2014 Jun;24(6):482-91
pubmed: 24780148
Neurology. 2019 Oct 22;93(17):e1597-e1604
pubmed: 31594858
Cochrane Database Syst Rev. 2016 May 05;(5):CD003725
pubmed: 27149418
Lancet. 2017 Sep 23;390(10101):1489-1498
pubmed: 28728956
Neuropediatrics. 2013 Oct;44(5):257-64
pubmed: 23794445
Compr Physiol. 2015 Jul 1;5(3):1223-39
pubmed: 26140716
Trends Mol Med. 2006 Mar;12(3):122-9
pubmed: 16443393
J Pediatr. 2019 Jan;204:305-313.e14
pubmed: 30579468
Neuromuscul Disord. 2017 Jun;27(6):569-573
pubmed: 28434908
Drugs Today (Barc). 2019 Oct;55(10):627-639
pubmed: 31720560
J Biol Chem. 1998 Oct 23;273(43):28419-23
pubmed: 9774469
Nat Med. 2009 Mar;15(3):325-30
pubmed: 19198614
Dis Model Mech. 2020 Mar 2;13(2):
pubmed: 32224496
J Neurol Neurosurg Psychiatry. 1972 Aug;35(4):451-5
pubmed: 4115002
Int Rev Cytol. 2008;265:191-225
pubmed: 18275889
Prenat Diagn. 2004 Nov;24(11):913-7
pubmed: 15565644
Angew Chem Int Ed Engl. 2020 Feb 3;59(6):2420-2428
pubmed: 31755636
J Comp Eff Res. 2020 Apr;9(5):341-360
pubmed: 31997646
Phys Med Rehabil Clin N Am. 1998 Feb;9(1):233-48
pubmed: 9894142
Hum Genet. 1984;66(1):17-40
pubmed: 6365739
Lancet Neurol. 2018 Apr;17(4):347-361
pubmed: 29395990
Science. 2004 Dec 3;306(5702):1796-9
pubmed: 15528407
J Pathol. 2011 Jan;223(1):88-98
pubmed: 21125668
Muscle Nerve. 2006 Aug;34(2):135-44
pubmed: 16770791
Nat Rev Neurol. 2017 Nov;13(11):647-661
pubmed: 28960187
Orphanet J Rare Dis. 2012 Jul 09;7:45
pubmed: 22776072
Nat Struct Biol. 2000 Aug;7(8):634-8
pubmed: 10932245
J Health Psychol. 2002 Mar;7(2):169-81
pubmed: 22114236
Qual Life Res. 2014 Sep;23(7):1945-52
pubmed: 24566887
Hum Gene Ther. 2018 Mar;29(3):299-311
pubmed: 28793798
Bioorg Med Chem. 2013 Apr 15;21(8):2241-2249
pubmed: 23498916
Cell Tissue Res. 2005 Feb;319(2):299-313
pubmed: 15565469
PLoS One. 2015 Aug 14;10(8):e0133214
pubmed: 26275215
Muscle Nerve. 2020 Jan;61(1):26-35
pubmed: 31599456
Hum Gene Ther. 2018 Jul;29(7):733-736
pubmed: 29463117
Dev Med Child Neurol. 2016 May;58(5):435-6
pubmed: 26534893
Muscle Nerve. 2014 Oct;50(4):477-87
pubmed: 25042182
J Med Genet. 1986 Apr;23(2):171-3
pubmed: 3712394
J Neuropathol Exp Neurol. 2006 Apr;65(4):371-86
pubmed: 16691118
Muscle Nerve. 2019 Jun;59(6):650-657
pubmed: 30706490
Cell. 1987 Dec 24;51(6):919-28
pubmed: 3319190
J Pediatr Urol. 2016 Dec;12(6):398.e1-398.e4
pubmed: 27567595
Hum Mutat. 2013 Nov;34(11):1449-57
pubmed: 23913485
Lancet. 2015 May 2;385(9979):1748-1757
pubmed: 25907158
FASEB J. 2018 Feb;32(2):1025-1043
pubmed: 29097503
J Child Neurol. 2015 Oct;30(11):1472-82
pubmed: 25660133
J Clin Invest. 2009 Mar;119(3):624-35
pubmed: 19229108
Sci Transl Med. 2015 Aug 5;7(299):299rv4
pubmed: 26246170
Sci Signal. 2012 Aug 07;5(236):ra56
pubmed: 22871609
J Appl Physiol (1985). 1999 Mar;86(3):924-31
pubmed: 10066706
Mol Biol Cell. 2005 Sep;16(9):4280-93
pubmed: 16000376
Ann Neurol. 2012 Mar;71(3):304-13
pubmed: 22451200
Cell. 2008 Dec 26;135(7):1189-200
pubmed: 19109891
Curr Opin Neurol. 2015 Oct;28(5):528-34
pubmed: 26263473
Ann Neurol. 2016 Feb;79(2):257-71
pubmed: 26573217
PM R. 2009 Aug;1(8):755-68
pubmed: 19695529
Neuromuscul Disord. 2007 Jan;17(1):38-46
pubmed: 17142039
Nat Rev Neurol. 2019 Jul;15(7):373-386
pubmed: 31147635
PLoS One. 2012;7(8):e43515
pubmed: 22937058
Health Qual Life Outcomes. 2018 Dec 19;16(1):237
pubmed: 30567556
J Hum Genet. 2016 Jul;61(7):663-7
pubmed: 27009627
Hum Mutat. 2008 May;29(5):728-37
pubmed: 18348289
Sci Rep. 2017 Oct 3;7(1):12575
pubmed: 28974727
Hum Mol Genet. 1995 May;4(5):837-42
pubmed: 7633443
Neuromuscul Disord. 2016 Jul;26(7):423-7
pubmed: 27234309
Clin Genet. 1980 Nov;18(5):329-41
pubmed: 7460369
J Med Genet. 2016 Mar;53(3):145-51
pubmed: 26754139
Cochrane Database Syst Rev. 2008 Oct 08;(4):CD004571
pubmed: 18843663
Clin Genet. 2009 May;75(5):465-72
pubmed: 19475718
Chin Med J (Engl). 2017 Oct 5;130(19):2273-2278
pubmed: 28937030
N Engl J Med. 2018 Aug 2;379(5):464-473
pubmed: 30067923
Skelet Muscle. 2018 Nov 22;8(1):36
pubmed: 30466494
Anim Genet. 2018 Dec;49(6):505-519
pubmed: 30125951
Neurology. 1975 Dec;25(12):1111-20
pubmed: 1105232
Proc Natl Acad Sci U S A. 2013 Jan 8;110(2):525-30
pubmed: 23185009
J Vis Exp. 2014 Mar 27;(85):
pubmed: 24747372
Ann Neurol. 2014 Sep;76(3):403-11
pubmed: 25043804
J Child Neurol. 2010 Sep;25(9):1116-29
pubmed: 20581335
Mol Ther. 2018 Oct 3;26(10):2337-2356
pubmed: 30093306
Eur J Hum Genet. 2020 Jun;28(6):815-825
pubmed: 31896777
Brain. 1962 Mar;85:109-20
pubmed: 14484759
Front Aging Neurosci. 2014 Jul 24;6:188
pubmed: 25104934
Arq Neuropsiquiatr. 2015 Jan;73(1):52-7
pubmed: 25608128
Neuromuscul Disord. 2020 Jun;30(6):492-502
pubmed: 32522498
Dev Med Child Neurol. 2016 Jan;58(1):77-84
pubmed: 26365034
JAMA. 1992 May 20;267(19):2609-15
pubmed: 1573747
Neuromuscul Disord. 2017 Feb;27(2):107-114
pubmed: 28003112
Hum Gene Ther. 2019 May;30(5):535-543
pubmed: 30648435
Clin Chim Acta. 2013 Aug 23;423:35-8
pubmed: 23588064
Am J Physiol Regul Integr Comp Physiol. 2006 Sep;291(3):R704-10
pubmed: 16614063
Nat Genet. 1993 May;4(1):77-81
pubmed: 8513330
Brain Res Bull. 2015 Jan;110:1-13
pubmed: 25445612
Neuromuscul Disord. 2004 Sep;14(8-9):476-82
pubmed: 15336688
Biochim Biophys Acta. 2014 Feb;1838(2):635-42
pubmed: 24021238
Biochem Biophys Res Commun. 2006 Aug 4;346(3):768-77
pubmed: 16777071
Acta Myol. 2005 Dec;24(3):209-16
pubmed: 16629055
Neurosci Lett. 1992 Jul 20;141(2):181-6
pubmed: 1279470
Child Care Health Dev. 2006 Jan;32(1):19-31
pubmed: 16398788
Am J Phys Med Rehabil. 2002 Nov;81(11 Suppl):S162-74
pubmed: 12409821
Neuromuscul Disord. 2018 Jul;28(7):572-581
pubmed: 29801751
Eur J Neurol. 2004 Aug;11(8):541-4
pubmed: 15272899
Microsc Res Tech. 2001 Nov 15;55(4):223-35
pubmed: 11748861
Mol Ther. 2018 Nov 7;26(11):2604-2616
pubmed: 30195724
Cell Death Dis. 2012 Nov 15;3:e418
pubmed: 23152054
Nature. 1988 Oct 20;335(6192):735-8
pubmed: 3173492
Ann N Y Acad Sci. 1958 Oct 13;75(1):235-49
pubmed: 13627822
Nucleic Acid Ther. 2019 Feb;29(1):13-15
pubmed: 30526286
Neuromuscul Disord. 2016 Oct;26(10):643-649
pubmed: 27566866
Physiol Rev. 2016 Jan;96(1):253-305
pubmed: 26676145
Orphanet J Rare Dis. 2017 Apr 26;12(1):79
pubmed: 28446219
Nat Med. 2008 Apr;14(4):442-7
pubmed: 18345011
Mol Ther Methods Clin Dev. 2020 Sep 28;19:320-329
pubmed: 33145368
Nat Med. 2015 Dec;21(12):1455-63
pubmed: 26569381
Cell. 1995 Sep 8;82(5):743-52
pubmed: 7545544
Nature. 1990 Mar 1;344(6261):64-5
pubmed: 2406613
Acta Myol. 2012 Oct;31(2):121-5
pubmed: 23097603
Neurology. 2019 Feb 19;92(8):e866-e878
pubmed: 30674601
Nat Commun. 2017 Oct 20;8(1):1068
pubmed: 29051551
Proc Natl Acad Sci U S A. 1992 Aug 15;89(16):7506-10
pubmed: 1380160
J Biol Chem. 1996 Mar 22;271(12):6605-10
pubmed: 8636075
Muscle Nerve. 2018 Feb;57(2):185-188
pubmed: 28981144
J Clin Invest. 2020 Jun 1;130(6):2766-2776
pubmed: 32478678
Neurology. 2020 May 26;94(21):e2270-e2282
pubmed: 32139505
Nat Commun. 2014 Jul 16;5:4425
pubmed: 25028121
Hum Mol Genet. 1993 May;2(5):521-4
pubmed: 8518789
Clin Chem. 2017 Apr;63(4):908-914
pubmed: 28209627
Int J Med Sci. 2014 Jul 17;11(10):988-93
pubmed: 25076844
Am J Respir Crit Care Med. 2004 Aug 15;170(4):456-65
pubmed: 15302625
Nature. 1991 Aug 8;352(6335):536-9
pubmed: 1865908
Cell Stem Cell. 2018 May 3;22(5):755-768.e6
pubmed: 29681515
Acta Myol. 2012 May;31(1):9-15
pubmed: 22655511
J Cell Biol. 2007 Mar 26;176(7):965-77
pubmed: 17389230
Cell. 1987 Jul 31;50(3):509-17
pubmed: 3607877
Ann Pharmacother. 2020 Aug;54(8):788-794
pubmed: 32019318
Hum Mol Genet. 2017 Jul 15;26(14):2781-2790
pubmed: 28472288
J Muscle Res Cell Motil. 2008;29(6-8):177-80
pubmed: 19140017
Hum Mutat. 2009 Jun;30(6):934-45
pubmed: 19367636
Cell. 2020 Apr 2;181(1):136-150
pubmed: 32243786
Am J Phys Med Rehabil. 1991 Jun;70(3):129-35
pubmed: 2039614
J Cell Biol. 2009 Aug 10;186(3):363-9
pubmed: 19651889
Hum Mol Genet. 1995 Mar;4(3):329-35
pubmed: 7795584
Pharmacol Rev. 2016 Jan;68(1):49-75
pubmed: 26668301