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Emery-Dreifuss muscular dystrophy(EDMD)

MedGen UID:
96078
Concept ID:
C0410189
Disease or Syndrome
Synonyms: EDMD; Humeroperoneal neuromuscular disease, (formerly); Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures; Scapuloperoneal syndrome, X-linked (formerly)
SNOMED CT: Emery-Dreifuss muscular dystrophy (111508004); EMD - Emery-Dreifuss muscular dystrophy (111508004); Benign scapuloperoneal muscular dystrophy with early contractures (111508004)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
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.
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.
 
Related genes: TMEM43, SYNE1, SYNE2, LMNA, FHL1, EMD
 
Monarch Initiative: MONDO:0016830
OMIM® Phenotypic series: PS310300
Orphanet: ORPHA261

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]
Authors:
Gisèle Bonne  |  France Leturcq  |  Rabah Ben Yaou   view full author information

Additional description

From MedlinePlus Genetics
Emery-Dreifuss muscular dystrophy is a condition that primarily affects muscles used for movement (skeletal muscles) and the heart (cardiac muscle). Among the earliest features of this disorder are joint deformities called contractures. Contractures restrict the movement of certain joints, most often the elbows, ankles, and neck, and usually become noticeable in early childhood. Most affected individuals also experience muscle weakness and wasting that worsen slowly over time, beginning in muscles of the upper arms and lower legs and later also affecting muscles in the shoulders and hips.

Almost all people with Emery-Dreifuss muscular dystrophy develop heart problems by adulthood. In many cases, these heart problems are abnormalities of the electrical signals that control the heartbeat (cardiac conduction defects) and abnormal heart rhythms (arrhythmias). If untreated, these abnormalities can lead to a sensation of fluttering or pounding in the chest (palpitations), an unusually slow heartbeat (bradycardia), fainting (syncope), heart failure, and an increased risk of sudden death.

Researchers have identified several types of Emery-Dreifuss muscular dystrophy that are distinguished by their pattern of inheritance: X-linked, autosomal dominant, and autosomal recessive. The types usually have similar signs and symptoms, although a small percentage of people with the autosomal dominant form experience heart problems without any weakness or wasting of skeletal muscles.  https://medlineplus.gov/genetics/condition/emery-dreifuss-muscular-dystrophy

Term Hierarchy

Follow this link to review classifications for Emery-Dreifuss muscular dystrophy in Orphanet.

Professional guidelines

PubMed

Groh WJ, Bhakta D, Tomaselli GF, Aleong RG, Teixeira RA, Amato A, Asirvatham SJ, Cha YM, Corrado D, Duboc D, Goldberger ZD, Horie M, Hornyak JE, Jefferies JL, Kääb S, Kalman JM, Kertesz NJ, Lakdawala NK, Lambiase PD, Lubitz SA, McMillan HJ, McNally EM, Milone M, Namboodiri N, Nazarian S, Patton KK, Russo V, Sacher F, Santangeli P, Shen WK, Sobral Filho DC, Stambler BS, Stöllberger C, Wahbi K, Wehrens XHT, Weiner MM, Wheeler MT, Zeppenfeld K
Heart Rhythm 2022 Oct;19(10):e61-e120. Epub 2022 Apr 29 doi: 10.1016/j.hrthm.2022.04.022. PMID: 35500790
Wang S, Peng D
Int Heart J 2019 Jan 25;60(1):12-18. Epub 2018 Dec 5 doi: 10.1536/ihj.17-604. PMID: 30518714
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

Recent clinical studies

Etiology

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
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Groh WJ, Bhakta D, Tomaselli GF, Aleong RG, Teixeira RA, Amato A, Asirvatham SJ, Cha YM, Corrado D, Duboc D, Goldberger ZD, Horie M, Hornyak JE, Jefferies JL, Kääb S, Kalman JM, Kertesz NJ, Lakdawala NK, Lambiase PD, Lubitz SA, McMillan HJ, McNally EM, Milone M, Namboodiri N, Nazarian S, Patton KK, Russo V, Sacher F, Santangeli P, Shen WK, Sobral Filho DC, Stambler BS, Stöllberger C, Wahbi K, Wehrens XHT, Weiner MM, Wheeler MT, Zeppenfeld K
Heart Rhythm 2022 Oct;19(10):e61-e120. Epub 2022 Apr 29 doi: 10.1016/j.hrthm.2022.04.022. PMID: 35500790
Wang S, Peng D
Int Heart J 2019 Jan 25;60(1):12-18. Epub 2018 Dec 5 doi: 10.1536/ihj.17-604. PMID: 30518714
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 AE
Lancet 2002 Feb 23;359(9307):687-95. doi: 10.1016/S0140-6736(02)07815-7. PMID: 11879882

Diagnosis

Groh WJ, Bhakta D, Tomaselli GF, Aleong RG, Teixeira RA, Amato A, Asirvatham SJ, Cha YM, Corrado D, Duboc D, Goldberger ZD, Horie M, Hornyak JE, Jefferies JL, Kääb S, Kalman JM, Kertesz NJ, Lakdawala NK, Lambiase PD, Lubitz SA, McMillan HJ, McNally EM, Milone M, Namboodiri N, Nazarian S, Patton KK, Russo V, Sacher F, Santangeli P, Shen WK, Sobral Filho DC, Stambler BS, Stöllberger C, Wahbi K, Wehrens XHT, Weiner MM, Wheeler MT, Zeppenfeld K
Heart Rhythm 2022 Oct;19(10):e61-e120. Epub 2022 Apr 29 doi: 10.1016/j.hrthm.2022.04.022. PMID: 35500790
Heller SA, Shih R, Kalra R, Kang PB
Muscle Nerve 2020 Apr;61(4):436-448. Epub 2019 Dec 28 doi: 10.1002/mus.26782. PMID: 31840275Free PMC Article
Madej-Pilarczyk A, Kochański A
Folia Neuropathol 2016;54(1):1-8. doi: 10.5114/fn.2016.58910. PMID: 27179216
Helbling-Leclerc A, Bonne G, Schwartz K
Eur J Hum Genet 2002 Mar;10(3):157-61. doi: 10.1038/sj.ejhg.5200744. PMID: 11973618
Emery AE
Lancet 2002 Feb 23;359(9307):687-95. doi: 10.1016/S0140-6736(02)07815-7. PMID: 11879882

Therapy

Wang S, Peng D
Int Heart J 2019 Jan 25;60(1):12-18. Epub 2018 Dec 5 doi: 10.1536/ihj.17-604. PMID: 30518714
Faiella W, Bessoudo R
CMAJ 2018 Dec 3;190(48):E1414-E1417. doi: 10.1503/cmaj.180410. PMID: 30510046Free PMC Article
Homma K, Nagata E, Hanano H, Uesugi T, Ohnuki Y, Matsuda S, Kazahari S, Takizawa S
Tokai J Exp Clin Med 2018 Sep 20;43(3):103-105. PMID: 30191544
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
Ellis JA, Craxton M, Yates JR, Kendrick-Jones J
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Prognosis

Yunisova G, Ceylaner S, Oflazer P, Deymeer F, Parman YG, Durmus H
Neuromuscul Disord 2022 Sep;32(9):718-727. Epub 2022 Jul 13 doi: 10.1016/j.nmd.2022.07.397. PMID: 35922275
Bianchi A, Manti PG, Lucini F, Lanzuolo C
Nucleus 2018 Jan 1;9(1):276-290. doi: 10.1080/19491034.2018.1460044. PMID: 29619865Free PMC Article
Orrell RW
Handb Clin Neurol 2011;101:167-80. doi: 10.1016/B978-0-08-045031-5.00013-X. PMID: 21496633
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
Emery AE
Lancet 2002 Feb 23;359(9307):687-95. doi: 10.1016/S0140-6736(02)07815-7. PMID: 11879882

Clinical prediction guides

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
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Kardiol Pol 2021;79(12):1335-1342. Epub 2021 Nov 16 doi: 10.33963/KP.a2021.0159. PMID: 34783354
Santi S, Cenni V, Capanni C, Lattanzi G, Mattioli E
Cells 2020 Jul 20;9(7) doi: 10.3390/cells9071735. PMID: 32698523Free PMC Article
Liang WC, Mitsuhashi H, Keduka E, Nonaka I, Noguchi S, Nishino I, Hayashi YK
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