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Emery-Dreifuss muscular dystrophy 6(EDMD6)

MedGen UID:
440709
•Concept ID:
C2749106
•
Disease or Syndrome
Synonyms: EDMD6; EMERY-DREIFUSS MUSCULAR DYSTROPHY 6, X-LINKED
 
Monarch Initiative: MONDO:0800318
OMIM®: 300163; 300696

Professional guidelines

PubMed

Genetic Testing for Early Onset Atrial Arrhythmias Changes Clinical Management: 2 Cases of Cardiac Emerinopathy.
Yoneda ZT, Anderson KC, Estrada JC, Quintana JA, Strickland T, Montgomery JA, Michaud GF, Roden DM, Shoemaker MB
JACC Clin Electrophysiol 2021 Mar;7(3):410-412. Epub 2021 Jan 27 doi: 10.1016/j.jacep.2020.11.006. PMID: 33516708
Primary laminopathy fibroblasts display altered genome organization and apoptosis.
Meaburn KJ, Cabuy E, Bonne G, Levy N, Morris GE, Novelli G, Kill IR, Bridger JM
Aging Cell 2007 Apr;6(2):139-53. Epub 2007 Feb 5 doi: 10.1111/j.1474-9726.2007.00270.x. PMID: 17274801
Genotype-phenotype analysis in X-linked Emery-Dreifuss muscular dystrophy and identification of a missense mutation associated with a milder phenotype.
Yates JR, Bagshaw J, Aksmanovic VM, Coomber E, McMahon R, Whittaker JL, Morrison PJ, Kendrick-Jones J, Ellis JA
Neuromuscul Disord 1999 May;9(3):159-65. PMID: 10382909

Recent clinical studies

Etiology

Emery-Dreifuss muscular dystrophy Type 1 is associated with a high risk of malignant ventricular arrhythmias and end-stage heart failure.
Cannie DE, Syrris P, Protonotarios A, Bakalakos A, Pruny JF, Ditaranto R, Martinez-Veira C, Larrañaga-Moreira JM, Medo K, Bermúdez-Jiménez FJ, Ben Yaou R, Leturcq F, Mezcua AR, Marini-Bettolo C, Cabrera E, Reuter C, Limeres Freire J, Rodríguez-Palomares JF, Mestroni L, Taylor MRG, Parikh VN, Ashley EA, Barriales-Villa R, Jiménez-Jáimez J, Garcia-Pavia P, Charron P, Biagini E, García Pinilla JM, Bourke J, Savvatis K, Wahbi K, Elliott PM
Eur Heart J 2023 Dec 21;44(48):5064-5073. doi: 10.1093/eurheartj/ehad561. PMID: 37639473Free PMC Article
Emery-Dreifuss muscular dystrophy, laminopathies, and other nuclear envelopathies.
Bonne G, Quijano-Roy S
Handb Clin Neurol 2013;113:1367-76. doi: 10.1016/B978-0-444-59565-2.00007-1. PMID: 23622360
Emery-Dreifuss muscular dystrophy - a 40 year retrospective.
Emery AE
Neuromuscul Disord 2000 Jun;10(4-5):228-32. doi: 10.1016/s0960-8966(00)00105-x. PMID: 10838246
Emery-Dreifuss muscular dystrophy.
Zacharias AS, Wagener ME, Warren ST, Hopkins LC
Semin Neurol 1999;19(1):67-79. doi: 10.1055/s-2008-1040827. PMID: 10711990
Dystrophies and heart disease.
Cox GF, Kunkel LM
Curr Opin Cardiol 1997 May;12(3):329-43. PMID: 9243091

Diagnosis

Emery-Dreifuss muscular dystrophy: the most recognizable laminopathy.
Madej-Pilarczyk A, Kochański A
Folia Neuropathol 2016;54(1):1-8. doi: 10.5114/fn.2016.58910. PMID: 27179216
Emery-Dreifuss muscular dystrophy, laminopathies, and other nuclear envelopathies.
Bonne G, Quijano-Roy S
Handb Clin Neurol 2013;113:1367-76. doi: 10.1016/B978-0-444-59565-2.00007-1. PMID: 23622360
Emery-Dreifuss muscular dystrophy - a 40 year retrospective.
Emery AE
Neuromuscul Disord 2000 Jun;10(4-5):228-32. doi: 10.1016/s0960-8966(00)00105-x. PMID: 10838246
Emery-Dreifuss muscular dystrophy.
Zacharias AS, Wagener ME, Warren ST, Hopkins LC
Semin Neurol 1999;19(1):67-79. doi: 10.1055/s-2008-1040827. PMID: 10711990
Emery-Dreifuss syndrome.
Emery AE
J Med Genet 1989 Oct;26(10):637-41. doi: 10.1136/jmg.26.10.637. PMID: 2685312Free PMC Article

Therapy

Clinical relevance of atrial fibrillation/flutter, stroke, pacemaker implant, and heart failure in Emery-Dreifuss muscular dystrophy: a long-term longitudinal study.
Boriani G, Gallina M, Merlini L, Bonne G, Toniolo D, Amati S, Biffi M, Martignani C, Frabetti L, Bonvicini M, Rapezzi C, Branzi A
Stroke 2003 Apr;34(4):901-8. Epub 2003 Mar 20 doi: 10.1161/01.STR.0000064322.47667.49. PMID: 12649505
Early onset of cardiomyopathy in two brothers with X-linked Emery-Dreifuss muscular dystrophy.
Talkop UA, Talvik I, Sõnajalg M, Sibul H, Kolk A, Piirsoo A, Warzok R, Wulff K, Wehnert MS, Talvik T
Neuromuscul Disord 2002 Nov;12(9):878-81. doi: 10.1016/s0960-8966(02)00134-7. PMID: 12398842
Novel mutations in the emerin gene in Israeli families.
Nevo Y, Ahituv S, Yaron Y, Kedmi M, Shomrat R, Legum C, Orr-Urtreger A
Hum Mutat 2001 Jun;17(6):522. doi: 10.1002/humu.1139. PMID: 11385714
Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy.
Bonne G, Di Barletta MR, Varnous S, Bécane HM, Hammouda EH, Merlini L, Muntoni F, Greenberg CR, Gary F, Urtizberea JA, Duboc D, Fardeau M, Toniolo D, Schwartz K
Nat Genet 1999 Mar;21(3):285-8. doi: 10.1038/6799. PMID: 10080180
Aberrant intracellular targeting and cell cycle-dependent phosphorylation of emerin contribute to the Emery-Dreifuss muscular dystrophy phenotype.
Ellis JA, Craxton M, Yates JR, Kendrick-Jones J
J Cell Sci 1998 Mar;111 ( Pt 6):781-92. doi: 10.1242/jcs.111.6.781. PMID: 9472006

Prognosis

Three novel FHL1 variants cause a mild phenotype of Emery-Dreifuss muscular dystrophy.
Borch JDS, Krag T, Holm-Yildiz SD, Cetin H, Solheim TA, Fornander F, Straub V, Duno M, Vissing J
Hum Mutat 2022 Sep;43(9):1234-1238. Epub 2022 Jul 16 doi: 10.1002/humu.24415. PMID: 35607917Free PMC Article
Osteopontin--a fibrosis-related marker--in dilated cardiomyopathy in patients with Emery-Dreifuss muscular dystrophy.
Niebroj-Dobosz I, Madej-Pilarczyk A, Marchel M, Sokołowska B, Hausmanowa-Petrusewicz I
Scand J Clin Lab Invest 2011 Dec;71(8):658-62. doi: 10.3109/00365513.2011.619272. PMID: 22077867
Hereditary muscular dystrophies and the heart.
Hermans MC, Pinto YM, Merkies IS, de Die-Smulders CE, Crijns HJ, Faber CG
Neuromuscul Disord 2010 Aug;20(8):479-92. doi: 10.1016/j.nmd.2010.04.008. PMID: 20627570
Matrix metalloproteinases in serum of Emery-Dreifuss muscular dystrophy patients.
Niebroj-Dobosz I, Madej-Pilarczyk A, Marchel M, Sokołowska B, Hausmanowa-Petrusewicz I
Acta Biochim Pol 2009;56(4):717-22. Epub 2009 Dec 8 PMID: 19997654
Emery-Dreifuss syndrome.
Emery AE
J Med Genet 1989 Oct;26(10):637-41. doi: 10.1136/jmg.26.10.637. PMID: 2685312Free PMC Article

Clinical prediction guides

Surgical Treatment for Severe Cervical Hyperlordosis and Thoracolumar Kyphoscoliosis with Emery-Dreifuss Muscular Dystrophy: A Case Report and Literature Review.
Tang Z, Hu Z, Qin X, Zhu Z, Liu Z
Orthop Surg 2022 Dec;14(12):3448-3454. Epub 2022 Oct 17 doi: 10.1111/os.13526. PMID: 36250567Free PMC Article
Three novel FHL1 variants cause a mild phenotype of Emery-Dreifuss muscular dystrophy.
Borch JDS, Krag T, Holm-Yildiz SD, Cetin H, Solheim TA, Fornander F, Straub V, Duno M, Vissing J
Hum Mutat 2022 Sep;43(9):1234-1238. Epub 2022 Jul 16 doi: 10.1002/humu.24415. PMID: 35607917Free PMC Article
The nuclear muscular dystrophies.
Wehnert MS, Bonne G
Semin Pediatr Neurol 2002 Jun;9(2):100-7. doi: 10.1053/spen.2002.33806. PMID: 12138994
The nuclear envelope in muscular dystrophy and cardiovascular diseases.
Burke B, Mounkes LC, Stewart CL
Traffic 2001 Oct;2(10):675-83. doi: 10.1034/j.1600-0854.2001.21001.x. PMID: 11576443
Emerin and cardiomyopathy in Emery-Dreifuss muscular dystrophy.
Funakoshi M, Tsuchiya Y, Arahata K
Neuromuscul Disord 1999 Mar;9(2):108-14. doi: 10.1016/s0960-8966(98)00097-2. PMID: 10220866

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