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Emery-Dreifuss muscular dystrophy 1, X-linked(EDMD1)

MedGen UID:
1720295
Concept ID:
C5243475
Disease or Syndrome
Synonym: EDMD1
 
Gene (location): EMD (Xq28)
 
Monarch Initiative: MONDO:0100531
OMIM®: 310300

Definition

Emery-Dreifuss muscular dystrophy inherited in an X-linked recessive pattern and caused by mutations in the EMD gene, encoding emerin. [from NCI]

Clinical features

From HPO
Sudden cardiac death
MedGen UID:
38841
Concept ID:
C0085298
Pathologic Function
The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset).
Knee flexion contracture
MedGen UID:
98042
Concept ID:
C0409355
Finding
A type of knee joint contracture in which the knee is in a fixed bent (flexed) configuration such that it cannot be straightened actively or passively.
Atrioventricular block
MedGen UID:
13956
Concept ID:
C0004245
Disease or Syndrome
Delayed or lack of conduction of atrial depolarizations through the atrioventricular node to the ventricles.
Palpitations
MedGen UID:
14579
Concept ID:
C0030252
Finding
A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia.
Atrial arrhythmia
MedGen UID:
39317
Concept ID:
C0085611
Pathologic Function
A type of supraventricular tachycardia in which the atria are the principal site of electrophysiologic disturbance.
First degree atrioventricular block
MedGen UID:
43215
Concept ID:
C0085614
Disease or Syndrome
Delay of conduction through the atrioventricular node, which is manifested as prolongation of the PR interval in the electrocardiogram (EKG). All atrial impulses reach the ventricles.
Absent P wave
MedGen UID:
324892
Concept ID:
C1837847
Finding
The P wave that normally precedes each QRS complex by a fixed PR interval of 120 to 200 milliseconds is not present.
Waddling gait
MedGen UID:
66667
Concept ID:
C0231712
Finding
Weakness of the hip girdle and upper thigh muscles, for instance in myopathies, leads to an instability of the pelvis on standing and walking. If the muscles extending the hip joint are affected, the posture in that joint becomes flexed and lumbar lordosis increases. The patients usually have difficulties standing up from a sitting position. Due to weakness in the gluteus medius muscle, the hip on the side of the swinging leg drops with each step (referred to as Trendelenburg sign). The gait appears waddling. The patients frequently attempt to counteract the dropping of the hip on the swinging side by bending the trunk towards the side which is in the stance phase (in the German language literature this is referred to as Duchenne sign). Similar gait patterns can be caused by orthopedic conditions when the origin and the insertion site of the gluteus medius muscle are closer to each other than normal, for instance due to a posttraumatic elevation of the trochanter or pseudarthrosis of the femoral neck.
Loss of ambulation
MedGen UID:
332305
Concept ID:
C1836843
Finding
Inability to walk in a person who previous had the ability to walk.
Myopathy
MedGen UID:
10135
Concept ID:
C0026848
Disease or Syndrome
A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.
Elbow flexion contracture
MedGen UID:
98367
Concept ID:
C0409338
Acquired Abnormality
An elbow contracture that limits the ability of the elbow joint to be extended (straightened), meaning that the elbow is fixed in an flexed (bent) position.
Achilles tendon contracture
MedGen UID:
98052
Concept ID:
C0410264
Anatomical Abnormality
A contracture of the Achilles tendon.
Muscular atrophy
MedGen UID:
892680
Concept ID:
C0541794
Pathologic Function
The presence of skeletal muscular atrophy (which is also known as amyotrophy).
Decreased cervical spine flexion due to contractures of posterior cervical muscles
MedGen UID:
326933
Concept ID:
C1839653
Finding
Pectus excavatum
MedGen UID:
781174
Concept ID:
C2051831
Finding
A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance.
Type 1 muscle fiber atrophy
MedGen UID:
868775
Concept ID:
C4023180
Disease or Syndrome
Atrophy (wasting) affecting primary type 1 muscle fibers. This feature in general can only be observed on muscle biopsy.
Elevated circulating creatine kinase concentration
MedGen UID:
69128
Concept ID:
C0241005
Finding
An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.
Abnormality of the neck
MedGen UID:
540042
Concept ID:
C0266623
Congenital Abnormality
An abnormality of the neck.

Professional guidelines

PubMed

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
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
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

Therapy

Smith GC, Kinali M, Prasad SK, Bonne G, Muntoni F, Pennell DJ, Nihoyannopoulos P
J Cardiovasc Magn Reson 2006;8(5):723-30. doi: 10.1080/10976640600723862. PMID: 16891232
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
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
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
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

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
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
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
Yazdanpanah P, Javan A, Nadimi B, Shirazi HR
East Mediterr Health J 2007 Jan-Feb;13(1):201-5. PMID: 17546924
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

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
Wehnert MS, Bonne G
Semin Pediatr Neurol 2002 Jun;9(2):100-7. doi: 10.1053/spen.2002.33806. PMID: 12138994
Burke B, Mounkes LC, Stewart CL
Traffic 2001 Oct;2(10):675-83. doi: 10.1034/j.1600-0854.2001.21001.x. PMID: 11576443
Funakoshi M, Tsuchiya Y, Arahata K
Neuromuscul Disord 1999 Mar;9(2):108-14. doi: 10.1016/s0960-8966(98)00097-2. PMID: 10220866
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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