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Autosomal dominant Emery-Dreifuss muscular dystrophy

MedGen UID:
976017
•Concept ID:
CN293514
•
Disease or Syndrome
Synonyms: autosomal dominant Emery-Dreifuss muscular dystrophy; EDMD2; Emery-Dreifuss muscular dystrophy, autosomal dominant
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Related genes: TMEM43, SYNE1, SYNE2, LMNA
 
Monarch Initiative: MONDO:0020336
Orphanet: ORPHA98853

Definition

EDMD is characterized by myopathic changes in certain skeletal muscles and early contractures at the neck, elbows, and Achilles tendons, as well as cardiac conduction defects. 'Classic' Emery-Dreifuss muscular dystrophy (EDMD1; 310300) is an X-linked disorder caused by mutation in the emerin gene (EMD; 300384) on Xq28 (Emery, 1989). For a discussion of genetic heterogeneity of EDMD, see 310300. [from OMIM]

Recent clinical studies

Etiology

Autosomal dominant Emery-Dreifuss muscular dystrophy caused by a mutation in the lamin A/C gene identified by exome sequencing: a case report.
Iskandar K, Sunartini, Astari FN, Gumilang RA, Ilma N, Shartyanie NP, Adistyawan G, Tan G, Gunadi, Lai PS
BMC Pediatr 2022 Oct 17;22(1):601. doi: 10.1186/s12887-022-03662-y. PMID: 36253810Free PMC Article
Lamin-Related Congenital Muscular Dystrophy Alters Mechanical Signaling and Skeletal Muscle Growth.
Owens DJ, Messéant J, Moog S, Viggars M, Ferry A, Mamchaoui K, Lacène E, Roméro N, Brull A, Bonne G, Butler-Browne G, Coirault C
Int J Mol Sci 2020 Dec 30;22(1) doi: 10.3390/ijms22010306. PMID: 33396724Free PMC Article
Differentiating Emery-Dreifuss muscular dystrophy and collagen VI-related myopathies using a specific CT scanner pattern.
Deconinck N, Dion E, Ben Yaou R, Ferreiro A, Eymard B, Briñas L, Payan C, Voit T, Guicheney P, Richard P, Allamand V, Bonne G, Stojkovic T
Neuromuscul Disord 2010 Aug;20(8):517-23. Epub 2010 Jun 23 doi: 10.1016/j.nmd.2010.04.009. PMID: 20576434
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
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

Diagnosis

Autosomal dominant Emery-Dreifuss muscular dystrophy caused by a mutation in the lamin A/C gene identified by exome sequencing: a case report.
Iskandar K, Sunartini, Astari FN, Gumilang RA, Ilma N, Shartyanie NP, Adistyawan G, Tan G, Gunadi, Lai PS
BMC Pediatr 2022 Oct 17;22(1):601. doi: 10.1186/s12887-022-03662-y. PMID: 36253810Free PMC Article
Differentiating Emery-Dreifuss muscular dystrophy and collagen VI-related myopathies using a specific CT scanner pattern.
Deconinck N, Dion E, Ben Yaou R, Ferreiro A, Eymard B, Briñas L, Payan C, Voit T, Guicheney P, Richard P, Allamand V, Bonne G, Stojkovic T
Neuromuscul Disord 2010 Aug;20(8):517-23. Epub 2010 Jun 23 doi: 10.1016/j.nmd.2010.04.009. PMID: 20576434
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
Autosomal dominant Emery-Dreifuss muscular dystrophy: a new family with late diagnosis.
Colomer J, Iturriaga C, Bonne G, Schwartz K, Manilal S, Morris GE, Puche M, Fernández-Alvarez E
Neuromuscul Disord 2002 Jan;12(1):19-25. doi: 10.1016/s0960-8966(01)00239-5. PMID: 11731280
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

Therapy

Neuromuscular disease. DOK7 gene therapy benefits mouse models of diseases characterized by defects in the neuromuscular junction.
Arimura S, Okada T, Tezuka T, Chiyo T, Kasahara Y, Yoshimura T, Motomura M, Yoshida N, Beeson D, Takeda S, Yamanashi Y
Science 2014 Sep 19;345(6203):1505-8. doi: 10.1126/science.1250744. PMID: 25237101
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

Prognosis

Autosomal dominant Emery-Dreifuss muscular dystrophy caused by a mutation in the lamin A/C gene identified by exome sequencing: a case report.
Iskandar K, Sunartini, Astari FN, Gumilang RA, Ilma N, Shartyanie NP, Adistyawan G, Tan G, Gunadi, Lai PS
BMC Pediatr 2022 Oct 17;22(1):601. doi: 10.1186/s12887-022-03662-y. PMID: 36253810Free PMC Article
Cardiac diseases as a predictor warning of hereditary muscle diseases. The case of laminopathies.
D'Ambrosio P, Petillo R, Torella A, Papa AA, Palladino A, Orsini C, Ergoli M, Passamano L, Novelli A, Nigro V, Politano L
Acta Myol 2019 Jun;38(2):33-36. Epub 2019 Jun 1 PMID: 31309180Free PMC Article
Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene.
Bonne G, Mercuri E, Muchir A, Urtizberea A, Bécane HM, Recan D, Merlini L, Wehnert M, Boor R, Reuner U, Vorgerd M, Wicklein EM, Eymard B, Duboc D, Penisson-Besnier I, Cuisset JM, Ferrer X, Desguerre I, Lacombe D, Bushby K, Pollitt C, Toniolo D, Fardeau M, Schwartz K, Muntoni F
Ann Neurol 2000 Aug;48(2):170-80. PMID: 10939567

Clinical prediction guides

Lamin-Related Congenital Muscular Dystrophy Alters Mechanical Signaling and Skeletal Muscle Growth.
Owens DJ, Messéant J, Moog S, Viggars M, Ferry A, Mamchaoui K, Lacène E, Roméro N, Brull A, Bonne G, Butler-Browne G, Coirault C
Int J Mol Sci 2020 Dec 30;22(1) doi: 10.3390/ijms22010306. PMID: 33396724Free PMC Article
Mouse model carrying H222P-Lmna mutation develops muscular dystrophy and dilated cardiomyopathy similar to human striated muscle laminopathies.
Arimura T, Helbling-Leclerc A, Massart C, Varnous S, Niel F, Lacène E, Fromes Y, Toussaint M, Mura AM, Keller DI, Amthor H, Isnard R, Malissen M, Schwartz K, Bonne G
Hum Mol Genet 2005 Jan 1;14(1):155-69. Epub 2004 Nov 17 doi: 10.1093/hmg/ddi017. PMID: 15548545
Expression and localization of nuclear proteins in autosomal-dominant Emery-Dreifuss muscular dystrophy with LMNA R377H mutation.
Reichart B, Klafke R, Dreger C, Krüger E, Motsch I, Ewald A, Schäfer J, Reichmann H, Müller CR, Dabauvalle MC
BMC Cell Biol 2004 Mar 30;5:12. doi: 10.1186/1471-2121-5-12. PMID: 15053843Free PMC Article
Skeletal muscle pathology in autosomal dominant Emery-Dreifuss muscular dystrophy with lamin A/C mutations.
Sewry CA, Brown SC, Mercuri E, Bonne G, Feng L, Camici G, Morris GE, Muntoni F
Neuropathol Appl Neurobiol 2001 Aug;27(4):281-90. doi: 10.1046/j.0305-1846.2001.00323.x. PMID: 11532159
Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene.
Bonne G, Mercuri E, Muchir A, Urtizberea A, Bécane HM, Recan D, Merlini L, Wehnert M, Boor R, Reuner U, Vorgerd M, Wicklein EM, Eymard B, Duboc D, Penisson-Besnier I, Cuisset JM, Ferrer X, Desguerre I, Lacombe D, Bushby K, Pollitt C, Toniolo D, Fardeau M, Schwartz K, Muntoni F
Ann Neurol 2000 Aug;48(2):170-80. PMID: 10939567

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