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Emery-Dreifuss Muscular Dystrophy (X-Linked Emery-Dreifuss Muscular Dystrophy)

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A heterogenous group of inherited muscular dystrophy without the involvement of nervous system. The disease is characterized by MUSCULAR ATROPHY; MUSCLE WEAKNESS; CONTRACTURE of the elbows; ACHILLES TENDON; and posterior cervical muscles; with or without cardiac features. There are several INHERITANCE PATTERNS including X-linked (X CHROMOSOME), autosomal dominant, and autosomal recessive gene mutations.

Also Known As:

X-Linked Emery-Dreifuss Muscular Dystrophy; Scapuloperoneal Muscular Dystrophy; Muscular Dystrophy, Emery-Dreifuss; Autosomal Dominant Emery-Dreifuss Muscular Dystrophy; Autosomal Recessive Emery-Dreifuss Muscular Dystrophy; Emery-Dreifuss Muscular Dystrophy 2; Emery-Dreifuss Muscular Dystrophy, Autosomal Recessive; Emery-Dreifuss Muscular Dystrophy, X-Linked; Emery-Dreifuss Type Muscular Dystrophy; Hauptmann-Thannhauser Muscular Dystrophy; Muscular Dystrophy, Emery-Dreifuss Type; Muscular Dystrophy, Emery-Dreifuss, Autosomal Dominant; Muscular Dystrophy, Emery-Dreifuss, Autosomal Recessive; Muscular Dystrophy, Scapuloperoneal; Scapuloilioperoneal Atrophy with Cardiopathy; Scapuloperoneal Syndrome, X-Linked; Autosomal Dominant Emery Dreifuss Muscular Dystrophy; Autosomal Recessive Emery Dreifuss Muscular Dystrophy; Emery Dreifuss Muscular Dystrophy 2; Emery Dreifuss Muscular Dystrophy, Autosomal Recessive; Emery Dreifuss Muscular Dystrophy, X Linked; Emery Dreifuss Syndrome; Hauptmann Thannhauser Muscular Dystrophy; Muscular Dystrophy, Emery Dreifuss; Scapuloperoneal Syndrome, X Linked; X Linked Emery Dreifuss Muscular Dystrophy; X-Linked Scapuloperoneal Syndrome; Emery-Dreifuss Syndrome; Muscular Dystrophy, Emery-Dreifuss, X-Linked

Networked: 289 relevant articles (3 outcomes, 8 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy)
2.	Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker)
3.	Dilated Cardiomyopathy (Cardiomyopathy, Congestive)
4.	Muscular Diseases (Myopathy)
5.	Distal Myopathies (Distal Muscular Dystrophy)

Experts

1.	Wilson, Katherine L: 21 articles (01/2013 - 03/2002)
2.	Worman, Howard J: 14 articles (12/2015 - 01/2003)
3.	Holaska, James M: 12 articles (02/2015 - 02/2003)
4.	Wehnert, Manfred: 11 articles (09/2014 - 12/2002)
5.	Bonne, G: 11 articles (02/2011 - 08/2000)
6.	Stewart, Colin L: 11 articles (01/2009 - 03/2002)
7.	Ellis, Juliet A: 10 articles (02/2011 - 01/2002)
8.	Bonne, Gisèle: 9 articles (01/2013 - 12/2002)
9.	Lammerding, Jan: 8 articles (05/2013 - 02/2004)
10.	Squarzoni, S: 8 articles (08/2011 - 09/2000)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Emery-Dreifuss Muscular Dystrophy:

1.	Lamin Type A (Lamin A)IBA 02/01/2002 - "The aim of this study was to evaluate the spectrum of muscle involvement on MRI in patients with autosomal dominant Emery-Dreifuss muscular dystrophy (EDMD2) due to mutations in the lamin A/C gene and to compare it to the pattern found in other conditions with similar phenotype. " 11/25/2014 - "Here we have focused on autosomal dominant Emery-Dreifuss Muscular Dystrophy, one such laminopathy where R453W is the causative mutation located in the Ig domain of lamin A. " 04/01/2012 - "Autosomal recessive Emery-Dreifuss muscular dystrophy caused by a novel mutation (R225Q) in the lamin A/C gene identified by exome sequencing." 01/01/2011 - "Lamin A is a nuclear envelope constituent involved in a group of human disorders, collectively referred to as laminopathies, which include Emery-Dreifuss muscular dystrophy. " 03/01/2010 - "X-linked Emery-Dreifuss muscular dystrophy with lamin A deficiency and IBM inclusions."
2.	Phosphotransferases (Kinase)IBA 01/01/2013 - "Previously, we demonstrated increased activity of extracellular signal-regulated kinase (ERK) 1/2 in hearts of LmnaH222P/H222P mice, a model of autosomal Emery-Dreifuss muscular dystrophy, and that blocking its activation improved cardiac function. " 01/15/2009 - "We demonstrated previously abnormal activation of the extracellular signal-regulated kinase (ERK) branch of the mitogen-activated protein kinase (MAPK) signaling cascade in hearts of Lmna H222P 'knock in' mice, a model of autosomal Emery-Dreifuss muscular dystrophy. "
3.	Phosphatidylinositol 3-KinasesIBA 04/01/2008 - "Differentiation of C2C12 myoblasts expressing lamin A mutated at a site responsible for Emery-Dreifuss muscular dystrophy is improved by inhibition of the MEK-ERK pathway and stimulation of the PI3-kinase pathway."
4.	DystrophinIBA 11/01/1993 - "In the other 5 patients dystrophin assay helped to differentiate between Duchenne muscular dystrophy and the Becker muscular dystrophy in 2 patients suspected to have limb-girdle muscular dystrophy, it differentiated Duchenne muscular dystrophy from the Emery-Dreifuss muscular dystrophy and detected a manifest female carrier with Duchenne's dystrophy. "
5.	DNA (Deoxyribonucleic Acid)IBA 11/01/2004 - "Autosomal dominant Emery-Dreifuss muscular dystrophy and facioscapulohumeral dystrophy are exclusively identified by DNA study. " 01/01/1992 - "Further DNA linkage studies on two previously described X-linked recessive Emery-Dreifuss muscular dystrophy (EMD) families are reported, which refine the localization of the gene responsible for EMD. " 01/01/2003 - "The experience of DNA-diagnosis of X-linked recessive Emery-Dreifuss muscular dystrophy for the first time made in Russia is presented. " 01/01/2003 - "[DNA-diagnosis of Emery-Dreifuss muscular dystrophy]." 09/01/1988 - "Two unrelated pedigrees, which show recurrence of Emery-Dreifuss muscular dystrophy (EDMD) in three generations, have been studied using 13 X-linked DNA polymorphisms and somatic cell hybrids to establish the phase of the corresponding alleles in some obligate carriers. "
6.	emerinIBA 06/01/1999 - "Confocal immunofluorescence microscopy studies of the intracellular targeting of truncated forms of emerin, some of which are found in patients with Emery-Dreifuss muscular dystrophy, show that the nucleoplasmic, amino-terminal domain is necessary and sufficient for nuclear retention. " 12/18/2015 - "More than 100 genetic mutations causing X-linked Emery-Dreifuss muscular dystrophy have been identified in the gene encoding the integral inner nuclear membrane protein emerin. " 02/01/2015 - "Mutations in EMD, encoding emerin cause skeletal muscle and heart defects in patients with X-linked Emery-Dreifuss muscular dystrophy (X-EDMD) but the underlying mechanisms leading to cardiac defects are poorly understood. " 01/01/2014 - "Emery-Dreifuss muscular dystrophy (EDMD) is caused by mutations in the EMD gene on the X chromosome, which codes for emerin, an inner nuclear membrane protein. " 09/30/2013 - "X-linked Emery-Dreifuss muscular dystrophy is caused by loss of function of emerin, an integral protein of the inner nuclear membrane. "
7.	LaminsIBA 02/01/2011 - "Autosomal dominant Emery-Dreifuss muscular dystrophy is caused by mutations in LMNA gene encoding lamins A and C. " 09/01/2010 - "In humans, mutations in A-type lamins give rise to diseases that exhibit tissue-specific defects, such as Emery-Dreifuss muscular dystrophy. " 05/01/2008 - "Autosomal dominant Emery-Dreifuss muscular dystrophy (EDMD) is characterized by muscle wasting and is caused by mutations in the LMNA gene encoding A-type lamins. " 09/01/2005 - "Mutations in the LMNA gene, which encodes nuclear lamins A and C by alternative splicing, can give rise to Emery-Dreifuss muscular dystrophy. " 09/01/2005 - "Lamins A and C are differentially dysfunctional in autosomal dominant Emery-Dreifuss muscular dystrophy."
8.	Proteins (Proteins, Gene)IBA 04/01/2014 - "Mutations in several genes encoding nuclear envelope (NE) associated proteins cause Emery-Dreifuss muscular dystrophy (EDMD). " 06/01/2001 - "These results suggest that an abnormal ultrastructural arrangement of the nuclear periphery is a common feature in the known forms of Emery-Dreifuss muscular dystrophy, and that several proteins of the nuclear scaffold are necessary in muscle cells to maintain the nuclear structural/functional integrity and a normal muscle cell metabolism." 01/01/2001 - "The discovery that mutations in nuclear lamina proteins cause heritable tissue-specific diseases, including Emery-Dreifuss muscular dystrophy, is prompting a fresh look at the nuclear lamina to devise models that can account for its diverse functions and dynamics, and to understand its enigmatic structure." 05/01/2009 - "Laminopathic diseases affect the distribution of the SUN-KASH complexes, and mutations in KASH-domain proteins can cause Emery Dreifuss muscular dystrophy and recessive cerebellar ataxia. " 12/01/2008 - "The nesprins [also known as SYNEs (synaptic nuclear envelope proteins)] are a family of type II transmembrane proteins implicated in the tethering of membrane-bound organelles and in the genetic aetiology of cerebellar ataxia and Emery-Dreifuss muscular dystrophy. "
9.	CollagenIBA 11/01/2009 - "For the first time our study provides epidemiological information for X-linked Emery-Dreifuss muscular dystrophy and the collagen VI disorders. " 08/01/2010 - "They are caused by mutations in collagen VI (ColVI) genes (COL6A1, COL6A2, and COL6A3) while LMNA mutations cause autosomal dominant Emery-Dreifuss muscular dystrophy. " 08/01/2010 - "Differentiating Emery-Dreifuss muscular dystrophy and collagen VI-related myopathies using a specific CT scanner pattern."
10.	type 1B Limb-girdle muscular dystrophyIBA 02/01/2011 - "Mutations in LMNA cause a variety of diseases affecting striated muscle including autosomal Emery-Dreifuss muscular dystrophy (EDMD), LMNA-associated congenital muscular dystrophy (L-CMD), and limb-girdle muscular dystrophy type 1B (LGMD1B). " 10/01/2005 - "This review focuses on laminopathies affecting the striated muscle tissue only, namely Emery-Dreifuss muscular dystrophy (EDMD), limb girdle muscular dystrophy type 1B (LGMD1B) and dilated cardiomyopathy with conduction defects (DCM-CD). " 04/01/2010 - "Leg muscle imaging investigations were performed in a cohort of patients with LMNA gene alterations who were suffering from Emery-Dreifuss muscular dystrophy, limb-girdle muscular dystrophy type 1B, isolated cardiac disorders or a phenotype of cardiac disorders, and lipodystrophy, including one individual with peripheral neuropathy. " 04/01/2005 - "Cardiac dysrhythmias,cardiomyopathy and muscular dystrophy in patients with Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy type 1B." 04/01/2005 - "Emery-Dreifuss muscular dystrophy (EDMD) and limb-girdle muscular dystrophy type 1B (LGMD1B) are characterized by cardiac dysrhythmias, late-onset cardiomyopathy, slowly progressive skeletal myopathy and contractures of the neck, elbows and ankles. "

Therapies and Procedures

1.	Heart Transplantation (Grafting, Heart) 12/01/2007 - "Heart transplantation in patients with Emery-Dreifuss muscular dystrophy: case reports." 04/01/2004 - "Cardiac transplantation in twins with autosomal dominant Emery-Dreifuss muscular dystrophy." 08/01/1990 - "Cardiac transplantation in female Emery-Dreifuss muscular dystrophy." 01/01/2012 - "In vitro contracture test results and anaesthetic management of a patient with emery-dreifuss muscular dystrophy for cardiac transplantation."
2.	Defibrillators (Defibrillator) 05/01/2015 - "We present the case of a 28-year-old female with Emery-Dreifuss muscular dystrophy and breast hypoplasia, who underwent implantation of a subpectoral defibrillator and bilateral breast augmentation during a single elective procedure at our institution." 05/01/2015 - "Combined subpectoral implantation of a cardioverter defibrillator and breast augmentation surgery in a patient with Emery-Dreifuss muscular dystrophy." 01/01/2014 - "In accordance with a diagnosis of Emery-Dreifuss muscular dystrophy (EDMD), provocative testing of VT was carried out, and a cardiac resynchronization therapy defibrillator (CRT-D) was implanted. " 01/01/2014 - "[Case with Emery-Dreifuss muscular dystrophy diagnosed forty-two years after onset and implanted with a cardiac resynchronization therapy defibrillator]." 03/01/2010 - "We report the case of 14-year-old boy with X-linked Emery-Dreifuss muscular dystrophy who developed sick sinus syndrome and required placement of an implantable intracardiac cardioverter-defibrillator (ICD) to prevent sudden death. "
3.	Cardiac Resynchronization Therapy 01/01/2014 - "In accordance with a diagnosis of Emery-Dreifuss muscular dystrophy (EDMD), provocative testing of VT was carried out, and a cardiac resynchronization therapy defibrillator (CRT-D) was implanted. " 01/01/2014 - "[Case with Emery-Dreifuss muscular dystrophy diagnosed forty-two years after onset and implanted with a cardiac resynchronization therapy defibrillator]." 02/01/2015 - "ICD role in preventing sudden cardiac death in Emery-Dreifuss muscular dystrophy with preserved myocardial function: 2013 ESC Guidelines on Cardiac Pacing and Cardiac Resynchronization Therapy."
4.	Implantable Defibrillators (Implantable Cardioverter-Defibrillator) 07/01/1999 - "We report a case of fully transvenous single-unit biventricular implantable cardioverter defibrillator (ICD) use in a 43-year-old woman with a manifesting carrier form of muscular dystrophy (Emery-Dreifuss syndrome). " 04/01/2008 - "We report the first case of witnessed sudden death of an Emery-Dreifuss muscular dystrophy (EDMD) patient with a properly functioning implantable cardioverter-defibrillator (ICD). " 04/01/2008 - "Sudden death in an Emery-Dreifuss muscular dystrophy patient with an implantable defibrillator." 07/01/1999 - "Biventricular implantable cardioverter defibrillator use in a patient with heart failure and ventricular tachycardia secondary to Emery-Dreifuss syndrome."
5.	Cesarean Section (Caesarean Section) 07/01/2010 - "We describe the anaesthetic management of a 29-year-old patient with Emery-Dreifuss muscular dystrophy presenting for elective caesarean section and discuss the disorder and its potential anaesthetic implications." 07/01/2010 - "Elective caesarean section for a woman with Emery-Dreifuss muscular dystrophy." 10/01/1996 - "[Anesthesia for cesarean section in a case of Emery-Dreifuss muscular dystrophy]."