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</html>	";s:4:"text";s:6012:"<br>Emery-Dreifuss muscular dystrophy (EDMD) is one of nine types of muscular dystrophy, a group of genetic, degenerative diseases primarily affecting voluntary muscles. For more, see The Muscular Dystrophy Association (MDA) is a qualified 501(c)(3) tax-exempt organization.©2020, Muscular Dystrophy Association Inc. All rights reserved.The Muscular Dystrophy Association (MDA) is a qualified 501(c)(3) tax-exempt organization.2020, Muscular Dystrophy Association Inc. All rights reserved. 2011 Dec;39(6):1693-7. doi: 10.1042/BST20110658. Review. Among the earliest features of this disorder are joint deformities called contractures. <br> <br>It usually begins in childhood or adolescence. <br> <br>Folia Neuropathol. <br> <br>Epub 2000 Mar 16. Emery-Dreifuss muscular dystrophy (EDMD) is one of nine types of muscular dystrophy, a group of genetic, degenerative diseases primarily affecting voluntary muscles. Muscle weakness may not become a source of difficulty until later in life, although cardiac problems are usually detectable by age 20. Getty Images. This story originally aired on Morning Edition on July 8, 2014. <br> <br>Areas of genetic research in EDMD include gene therapy, gene silencing and cell therapy.At the same time, other MDA-supported scientists are studying ways to preserve muscle despite the presence of a degenerative disease. 2016;54(1):1-8. Review. <br> <br>Emery-Dreifuss muscular dystrophy is a condition that primarily affects muscles used for movement (skeletal muscles) and the heart (cardiac muscle). Some individuals with autosomal dominant EDM…  <br>2000 Apr;66(4):1407-12. An encore of a conversation with Ben and Emily Dreyfuss, the adult children of actor Richard Dreyfuss, after they re-watched Jaws. 2004 Sep 29 [updated 2015 Nov 25]. Some affected individuals may experience childhood onset with rapid disease progression and severe complications; others may experience adult onset and a slowly progressive course. Handb Clin Neurol. EDMD can be inherited several different ways, although symptoms are essentially the same for all inheritance patterns. Like other muscular dystrophies it is a wasting disease of muscle. <br> <br>This form of muscular dystrophy was so named after Professor Emery in the UK and Professor Dreifuss in the United States, who together first described the disorder nearly 40 years ago. Raffaele Di Barletta M, Ricci E, Galluzzi G, Tonali P, Mora M, Morandi L, Romorini A, Voit T, Orstavik KH, Merlini L, Trevisan C, Biancalana V, Housmanowa-Petrusewicz I, Bione S, Ricotti R, Schwartz K, Bonne G, Toniolo D. Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy. Ziat E, Mamchaoui K, Beuvin M, Nelson I, Azibani F, Spuler S, Bonne G, Bertrand AT. <br> <br>It is named for Alan Emery and Fritz Dreifuss, physicians who first described the disorder among a Virginia family in the 1960s. What are the symptoms of EDMD? Author: Emily Dreyfuss Emily Dreyfuss. For more, see EDMD is caused by mutations in the genes that produce proteins in the membrane surrounding the nucleus of each muscle cell. GeneReviews® [Internet]. Users with questions about a personal health condition should consult with a Bonne G, Leturcq F, Ben Yaou R. Emery-Dreifuss Muscular Dystrophy. <br> Emery AE. Seattle (WA): University of Washington, Seattle; 1993-2017. Emery-Dreifuss muscular dystrophy - a 40 year retrospective. Am J Hum Genet. Neuromuscul Disord. <br> <br>Meinke P, Nguyen TD, Wehnert MS. The age of onset, severity, and progression of EDMD varies greatly from case to case, even among individuals of the same family. <br> <br>Review. Biochem Soc Trans. 2016 Nov 29;3(4):497-510. <br> <br>2000 Jun;10(4-5):228-32. Review. Another prominent aspect of EDMD is the appearance of contractures (stiff joints) in the elbows, neck and heels very early in the course of the disease.Finally, and very importantly, a type of heart problem called a conduction block is a common feature of EDMD and requires monitoring. Muscle weakness and atrophy is usually slowly progressive during the first three decades of life. <br> <br>Available from http://www.ncbi.nlm.nih.gov/books/NBK1436/ Bonne G, Quijano-Roy S. Emery-Dreifuss muscular dystrophy, laminopathies, and other nuclear envelopathies. <br> <br>Madej-Pilarczyk A, Kochański A. Emery-Dreifuss muscular dystrophy: the most recognizable laminopathy. J Neuromuscul Dis. FHL1B Interacts with Lamin A/C and Emerin at the Nuclear Lamina and is Misregulated in Emery-Dreifuss Muscular Dystrophy. COVID-19 is an emerging, rapidly evolving situation.Changes in several other genes result in conditions that resemble In females (who have two X chromosomes), a mutation typically must be present in both copies of the gene to cause X-linked The resources on this site should not be used as a substitute for professional medical care or advice. For more, see EDMD progresses slowly. The LINC complex and human disease. Intellect isn’t affected.Researchers have identified the genes that, when defective, lead to EDMD, and MDA-supported scientists are building on that knowledge in a variety of ways. 2013;113:1367-76. doi: 10.1016/B978-0-444-59565-2.00007-1. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors.  Emily Dreyfuss is a senior writer at WIRED, covering technology’s impact on society. <br> <br>Emery-Dreifuss muscular dystrophy is a condition that affects the joints, … Eventually, it may become more rapid. <br> <br>Silicon Valley is coming for death. It is named for Alan Emery and Fritz Dreifuss, physicians who first described the disorder among a Virginia family in the 1960s.EDMD usually shows itself by age 10 and is characterized by wasting and weakness of the muscles that make up the shoulders and upper arms and the calf muscles of the legs. 03.23.17; 04:38 pm; Silicon Valley Would Rather Cure Death Than Make Life Worth Living . <br>";s:7:"keyword";s:22:"emily dreyfuss disease";s:5:"links";s:5177:"<a href='https://duassis.com/blog/21rss.php?347799=douglas-emhoff-children'>Douglas Emhoff Children</a>,
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