X-Linked Emery-Dreifuss Muscular Dystrophy

Emery-Dreifuss muscular dystrophy associated with mutations on emerin (EMD gene) or four and a half LIM domains 1 (FHL1 gene) both located on X chromosome.

Also Known As:

Benign Scapuloperoneal Muscular Dystrophy with Early Contractures; Emery-Dreifuss Muscular Dystrophy 6; Emery-Dreifuss Muscular Dystrophy 6, X-Linked; Emery-Dreifuss Muscular Dystrophy, 1; Emery-Dreifuss Muscular Dystrophy, X-Linked; Myopathy, X-Linked, With Postural Muscle Atrophy; Scapuloperoneal Syndrome, X-Linked; Emerinopathies; Emery Dreifuss Muscular Dystrophy 1; Emery Dreifuss Muscular Dystrophy 1, X Linked; Emery Dreifuss Muscular Dystrophy 6; Emery Dreifuss Muscular Dystrophy 6, X Linked; Emery Dreifuss Muscular Dystrophy, 1; Emery Dreifuss Muscular Dystrophy, X Linked; Scapuloperoneal Syndrome, X Linked; X Linked Emery Dreifuss Muscular Dystrophy; X-Linked Scapuloperoneal Syndrome; EDMD1; Emerinopathy; Emery-Dreifuss Muscular Dystrophy 1; Emery-Dreifuss Muscular Dystrophy 1, X-Linked; Muscular Dystrophy, Emery-Dreifuss, X-Linked; XMPMA

Networked: 70 relevant articles (0 outcomes, 3 trials/studies)

Disease Context: Research Results

Related Diseases

1.	X-Linked Emery-Dreifuss Muscular Dystrophy
2.	Laminopathies
3.	Emery-Dreifuss Muscular Dystrophy (Scapuloperoneal Muscular Dystrophy)
4.	Contracture
5.	Muscle Weakness

Experts

1.	Holaska, James M: 7 articles (01/2020 - 09/2004)
2.	Worman, Howard J: 4 articles (12/2015 - 01/2005)
3.	Wilson, Katherine L: 4 articles (01/2013 - 09/2004)
4.	Madej-Pilarczyk, Agnieszka: 3 articles (11/2019 - 12/2011)
5.	Ellis, Juliet A: 3 articles (03/2010 - 01/2002)
6.	Morris, G E: 3 articles (10/2001 - 01/2000)
7.	Machowska, Magdalena: 2 articles (01/2021 - 01/2019)
8.	Piekarowicz, Katarzyna: 2 articles (01/2021 - 01/2019)
9.	Rzepecki, Ryszard: 2 articles (01/2021 - 01/2019)
10.	Nigro, Gerardo: 2 articles (11/2019 - 03/2010)

Drugs and Biologics

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

1.	emerinIBA 01/01/2022 - "When mutated or absent, emerin causes X-linked Emery-Dreifuss muscular dystrophy (EDMD). " 01/01/2022 - "X-Linked Emery-Dreifuss muscular dystrophy is caused by mutations in the gene encoding emerin. " 01/01/2020 - "Mutations in the gene encoding emerin cause EDMD1. " 10/01/2019 - "Mutations in the gene encoding emerin are responsible for the majority of cases of X-linked Emery-Dreifuss muscular dystrophy (X-EDMD). " 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. "
2.	Proteins (Proteins, Gene)FDA Link 02/01/2015 - "Here we present a clinical description and in vitro characterization of a mildly affected EDMD1 female carrying the heterozygous EMD mutation c.174_175delTT; p.Y59* that yields loss of protein. " 05/15/2014 - "Here, RBM, SPM and XMPMA FHL1 mutants were expressed in C2C12 cells and showed equivalent protein expression to wild-type FHL1. " 08/18/2009 - "In the spectrum of FHL1opathies, the preserved FHL1C protein is likely responsible for the moderate XMPMA phenotype compared with the more severe reducing body myopathy/scapuloperoneal myopathy phenotype." 03/01/2012 - "Immunohistochemical staining using an emerin antibody showed absence of the protein in a fragment of muscle tissue and genetic study identified a mutation associated with EDMD1. " 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. "
3.	Lamin Type A (Lamin A)IBA 03/01/2010 - "X-linked Emery-Dreifuss muscular dystrophy with lamin A deficiency and IBM inclusions." 12/01/2023 - "Different subtypes of EDMD have been described, with the two most common forms represented by the X-linked EDMD1, caused by mutations in the EMD gene encoding emerin, and the autosomal EDMD2, due to mutations in the LMNA gene encoding lamin A/C. " 02/15/2006 - "Emery-Dreifuss muscular dystrophy (EDMD1) is caused by mutations in either the X-linked gene emerin (EMD) or the autosomal lamin A/C (LMNA) gene. " 04/01/2014 - "The study included 24 patients suffering from either of the two EDMD forms: 17 with emerinopathy (EDMD1; EDMD caused by mutations in the emerin gene) and 7 with laminopathy (EDMD2; EDMD caused by the lamin A/C gene mutations). "
4.	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. "
5.	Nonsense Codon (Nonsense Mutation)IBA 01/01/2019 - "We infer that the EDMD1 phenotype may be strengthened by the toxicity of truncated emerin expressed in patients with certain nonsense mutations in EMD." 01/01/2020 - "Most EDMD1 patients harbor nonsense mutations and have no detectable emerin protein. " 10/12/2001 - "X-linked Emery-Dreifuss muscular dystrophy is usually caused by absence of the nuclear membrane protein, emerin, due to nonsense mutations or deletions, but a few missense mutations also exist. "
6.	LaminsIBA 10/01/2002 - "Increased solubility of lamins and redistribution of lamin C in X-linked Emery-Dreifuss muscular dystrophy fibroblasts." 06/10/2007 - "Disorders caused by mutations in genes encoding lamin-associated integral inner nuclear membrane proteins include X-linked Emery-Dreifuss muscular dystrophy, sclerosing bone dysplasias, HEM/Greenberg skeletal dysplasia and Pelger-Huet anomaly. "
7.	Membrane Proteins (Integral Membrane Proteins)IBA 01/01/2013 - "Loss of function mutations in the nuclear inner membrane protein, emerin, cause X-linked Emery-Dreifuss muscular dystrophy (X-EDMD). " 06/01/1999 - "These results confirmed the diagnosis of X-linked Emery-Dreifuss muscular dystrophy (EDMD), and reinforce the necessity of molecular genetic diagnosis of the membrane protein emerin in younger patients with possible EDMD before appearance of the typical symptoms, to avoid sudden cardiac death."
8.	Genetic Markers (Genetic Marker)IBA 02/01/1993 - "We report three new families with X linked Emery-Dreifuss muscular dystrophy studied with DNA markers from Xq27-qter and three previously published families typed for additional markers. " 12/01/1986 - "We have searched for linkage between polymorphic loci defined by DNA markers on the X chromosome and X-linked Emery-Dreifuss muscular dystrophy (EDMD). "
9.	OsteopontinIBA 12/01/2011 - "Serum levels of osteopontin were quantified by means of sandwich immunoassay in 25 EDMD patients (10 laminopathies AD-EDMD and 15 emerinopathies--X-EDMD), eight carriers of X-EDMD, nine disease controls (patients with dystrophinopathy) and 20 age-matched healthy controls. "
10.	Protein Isoforms (Isoforms)IBA 08/01/2007 - "Furthermore, we are the first to report that emerin mutations which give rise to X-linked Emery-Dreifuss muscular dystrophy, disrupt binding to both nesprin-1alpha and -2beta isoforms, further indicating a role of nesprins in the pathology of Emery-Dreifuss muscular dystrophy."

Therapies and Procedures

1.	Noninvasive Ventilation 11/01/2011 - "XMPMA: acute on chronic ventilatory failure managed successfully with non-invasive ventilation."
2.	Defibrillators (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. "