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X-linked Emery-Dreifuss muscular dystrophy

MedGen UID:
148284
•Concept ID:
C0751337
•
Disease or Syndrome
Synonyms: EMD-Related Emery-Dreifuss Muscular Dystrophy, X-Linked; Muscular dystrophy, tardive Emery-Dreifuss type, with contractures
SNOMED CT: X-linked Emery-Dreifuss muscular dystrophy (1156836006)
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)
 
Related genes: FHL1, EMD
 
Monarch Initiative: MONDO:0010680
OMIM®: 300384
Orphanet: ORPHA98863

Disease characteristics

Excerpted from the GeneReview: Emery-Dreifuss Muscular Dystrophy
Emery-Dreifuss muscular dystrophy (EDMD) is characterized by the clinical triad of: joint contractures that begin in early childhood; slowly progressive muscle weakness and wasting initially in a humero-peroneal distribution that later extends to the scapular and pelvic girdle muscles; and cardiac involvement that may manifest as palpitations, presyncope and syncope, poor exercise tolerance, and congestive heart failure along with variable cardiac rhythm disturbances. Age of onset, severity, and progression of muscle and cardiac involvement demonstrate both inter- and intrafamilial variability. Clinical variability ranges from early onset with severe presentation in childhood to late onset with slow progression in adulthood. In general, joint contractures appear during the first two decades, followed by muscle weakness and wasting. Cardiac involvement usually occurs after the second decade and respiratory function may be impaired in some individuals. [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Characteristics  |  Genetically Related (Allelic) Disorders  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  Chapter Notes  |  References
Authors:
Gisèle Bonne  |  France Leturcq  |  Rabah Ben Yaou   view full author information

Additional description

From OMIM
Emery-Dreifuss muscular dystrophy (EDMD1) is a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system. Flexion deformities of the elbows dating from early childhood, mild pectus excavatum, signs of cardiac involvement and absence of muscle pseudohypertrophy, involvement of the forearm muscles, and mental retardation distinguish the Emery-Dreifuss form (EDMD1) from the Becker form (300376). Genetic Heterogeneity of Emery-Dreifuss Muscular Dystrophy Autosomal dominant Emery-Dreifuss muscular dystrophy-2 (EDMD2; 181350) is caused by mutation in the lamin A/C gene (LMNA; 150330); autosomal recessive EDMD3 (616516) is also caused by mutation in the LMNA gene. Additional autosomal dominant forms include EDMD4 (612998), caused by mutation in the SYNE1 gene (608441); EDMD5 (612999), caused by mutation in the SYNE2 gene (608442); and EDMD7 (614302), caused by mutation in the TMEM43 gene (612048). A second X-linked form (EDMD6; see 300696) is caused by mutation in the FHL1 gene (300163).  http://www.omim.org/entry/310300

Professional guidelines

PubMed

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
Muscle MRI as a Diagnostic Challenge in Emery-Dreifuss Muscular Dystrophy.
Pinto MJ, Fromes Y, Ackermann-Bonan I, Leturcq F, Verebi C, Romero NB, Stojkovic T
J Neuromuscul Dis 2022;9(5):649-654. doi: 10.3233/JND-220823. PMID: 36031908
Cardiac and muscle imaging findings in a family with X-linked Emery-Dreifuss muscular dystrophy.
Carboni N, Mura M, Mercuri E, Marrosu G, Manzi RC, Cocco E, Nissardi V, Isola F, Mateddu A, Solla E, Maioli MA, Oppo V, Piras R, Marini S, Lai C, Politano L, Marrosu MG
Neuromuscul Disord 2012 Feb;22(2):152-8. Epub 2011 Oct 10 doi: 10.1016/j.nmd.2011.09.001. PMID: 21993399
Nuclear envelope proteins and associated diseases.
Nagano A, Arahata K
Curr Opin Neurol 2000 Oct;13(5):533-9. doi: 10.1097/00019052-200010000-00005. PMID: 11073359
Emery-Dreifuss muscular dystrophy: linkage to markers in distal Xq28.
Yates JR, Warner JP, Smith JA, Deymeer F, Azulay JP, Hausmanowa-Petrusewicz I, Zaremba J, Borkowska J, Affara NA, Ferguson-Smith MA
J Med Genet 1993 Feb;30(2):108-11. doi: 10.1136/jmg.30.2.108. PMID: 8445613Free PMC Article

Diagnosis

Muscle MRI as a Diagnostic Challenge in Emery-Dreifuss Muscular Dystrophy.
Pinto MJ, Fromes Y, Ackermann-Bonan I, Leturcq F, Verebi C, Romero NB, Stojkovic T
J Neuromuscul Dis 2022;9(5):649-654. doi: 10.3233/JND-220823. PMID: 36031908
X-Linked Emery-Dreifuss Muscular Dystrophy: Study Of X-Chromosome Inactivation and Its Relation with Clinical Phenotypes in Female Carriers.
Viggiano E, Madej-Pilarczyk A, Carboni N, Picillo E, Ergoli M, Gaudio SD, Marchel M, Nigro G, Palladino A, Politano L
Genes (Basel) 2019 Nov 11;10(11) doi: 10.3390/genes10110919. PMID: 31718017Free PMC Article
X-linked Emery-Dreifuss muscular dystrophy manifesting with adult onset axial weakness, camptocormia, and minimal joint contractures.
Brisset M, Ben Yaou R, Carlier RY, Chanut A, Nicolas G, Romero NB, Wahbi K, Decrocq C, Leturcq F, Laforêt P, Malfatti E
Neuromuscul Disord 2019 Sep;29(9):678-683. Epub 2019 Jun 19 doi: 10.1016/j.nmd.2019.06.009. PMID: 31474437
Multipoint linkage mapping of the Emery-Dreifuss muscular dystrophy gene.
Kress W, Müller E, Kausch K, Kullmann F, Mostacciuolo ML, Rietschel M, Rotthauwe HW, Schmalenberger B, Siciliano G, Voit T
Neuromuscul Disord 1992;2(2):111-5. doi: 10.1016/0960-8966(92)90042-5. PMID: 1422197
X-linked muscular dystrophy with early contractures and cardiomyopathy (Emery-Dreifuss type).
Emery AE
Clin Genet 1987 Nov;32(5):360-7. doi: 10.1111/j.1399-0004.1987.tb03302.x. PMID: 3319295

Therapy

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
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

FHL1-related myopathy may not be classified by reducing bodies in muscle biopsy.
Chen T, Lu X, Shi Q, Guo J, Wang H, Wang Q, Yin X, Zhang Y, Pu C, Zhou D
Neuromuscul Disord 2020 Feb;30(2):165-172. Epub 2019 Nov 28 doi: 10.1016/j.nmd.2019.11.011. PMID: 32001145
Cardiac and muscle imaging findings in a family with X-linked Emery-Dreifuss muscular dystrophy.
Carboni N, Mura M, Mercuri E, Marrosu G, Manzi RC, Cocco E, Nissardi V, Isola F, Mateddu A, Solla E, Maioli MA, Oppo V, Piras R, Marini S, Lai C, Politano L, Marrosu MG
Neuromuscul Disord 2012 Feb;22(2):152-8. Epub 2011 Oct 10 doi: 10.1016/j.nmd.2011.09.001. PMID: 21993399
Early onset of X-linked Emery-Dreifuss muscular dystrophy in a boy with emerin gene deletion.
Fujimoto S, Ishikawa T, Saito M, Wada Y, Wada I, Arahata K, Nonaka I
Neuropediatrics 1999 Jun;30(3):161-3. doi: 10.1055/s-2007-973484. PMID: 10480214
Severe clinical expression in X-linked Emery-Dreifuss muscular dystrophy.
Hoeltzenbein M, Karow T, Zeller JA, Warzok R, Wulff K, Zschiesche M, Herrmann FH, Grosse-Heitmeyer W, Wehnert MS
Neuromuscul Disord 1999 May;9(3):166-70. doi: 10.1016/s0960-8966(98)00120-5. PMID: 10382910
Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy.
Nagano A, Koga R, Ogawa M, Kurano Y, Kawada J, Okada R, Hayashi YK, Tsukahara T, Arahata K
Nat Genet 1996 Mar;12(3):254-9. doi: 10.1038/ng0396-254. PMID: 8589715

Clinical prediction guides

Muscular Dystrophy Mutations Impair the Nuclear Envelope Emerin Self-assembly Properties.
Herrada I, Samson C, Velours C, Renault L, Östlund C, Chervy P, Puchkov D, Worman HJ, Buendia B, Zinn-Justin S
ACS Chem Biol 2015 Dec 18;10(12):2733-42. Epub 2015 Oct 5 doi: 10.1021/acschembio.5b00648. PMID: 26415001Free PMC Article
Abnormal proliferation and spontaneous differentiation of myoblasts from a symptomatic female carrier of X-linked Emery-Dreifuss muscular dystrophy.
Meinke P, Schneiderat P, Srsen V, Korfali N, Lê Thành P, Cowan GJ, Cavanagh DR, Wehnert M, Schirmer EC, Walter MC
Neuromuscul Disord 2015 Feb;25(2):127-36. Epub 2014 Oct 6 doi: 10.1016/j.nmd.2014.09.012. PMID: 25454731Free PMC Article
Ventricular arrhythmia in X-linked Emery-Dreifuss muscular dystrophy: a lesson from an autopsy case.
Ishikawa K, Mimuro M, Tanaka T
Intern Med 2011;50(5):459-62. Epub 2011 Mar 1 doi: 10.2169/internalmedicine.50.4598. PMID: 21372459
The Emery-Dreifuss muscular dystrophy associated-protein emerin is phosphorylated on serine 49 by protein kinase A.
Roberts RC, Sutherland-Smith AJ, Wheeler MA, Jensen ON, Emerson LJ, Spiliotis II, Tate CG, Kendrick-Jones J, Ellis JA
FEBS J 2006 Oct;273(19):4562-75. doi: 10.1111/j.1742-4658.2006.05464.x. PMID: 16972941
Multipoint linkage mapping of the Emery-Dreifuss muscular dystrophy gene.
Kress W, Müller E, Kausch K, Kullmann F, Mostacciuolo ML, Rietschel M, Rotthauwe HW, Schmalenberger B, Siciliano G, Voit T
Neuromuscul Disord 1992;2(2):111-5. doi: 10.1016/0960-8966(92)90042-5. PMID: 1422197

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