Emery-Dreifuss muscular dystrophy
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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.
Descrizione
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.
Modelli di ereditarietà
The source lists the following possible inheritance patterns: Autosomal dominant; Autosomal recessive; X-linked recessive. More than one pattern can apply in different cases.
Related genes
Altri nomi
Benign scapuloperoneal muscular dystrophy with early contractures
EDMD
Emery-Dreifuss syndrome
Muscular dystrophy, Emery-Dreifuss type
Related patient information and medicines
Patient information leaflet
Distrofia muscolare
Muscular dystrophy is an inherited (genetic) disorder causing muscle weakness. Muscular dystrophy (MD) is the name given to a group of... Emery-Dreifuss muscular dystrophy Emery-Dreifuss MD starts in childhood or adolescence. It can affect the muscles of the shoulders and upper arms, making it difficult to lift heavy objects. Also, the muscles in.
Patient information leaflet
Debolezza muscolare
It is also seen in a condition called distrofia muscolare (discussed further below). Rare causes of muscular weakness Genetic conditions affecting muscles Muscular dystrophies : These are inherited diseases which affect muscles. They are rare Sintomi dei disturbi della tiroide but the best known and most common is Distrofia muscolare di Duchenne. ...hood and include.
Patient information leaflet
Test genetici
Genetic testing is a type of medical test that identifies changes in chromosomes, genes or proteins. It can identify changes in the number of chromosomes ( for example, Down's syndrome in... Fluorescent in situ hybridisation (FISH) analysis - this test looks at certain parts of the chromosomes and can detect very small pieces of chromosomes that.
Patient information leaflet
Gas nel sangue arterioso
An arterial blood gas (ABG) test is a quick and reliable blood test which can help medical professionals determine the diagnosis and treatment required. There are many reasons why this might happen. For example, this may be because of a neurological or muscular disease - myasthenia gravis , Guillain-Barré syndrome , distrofia muscolare , or a.
Patient information leaflet
Scoliosi e cifosi
Structural scoliosis In these cases, the curve is fixed and doesn't go away when the person changes position. Neuromuscular scoliosis. This means the curve is caused by a condition which affects muscles or nerves of the back. For example, it may happen in some people with distrofia muscolare , polio , cerebral palsy , or neurofibromatosis. Each of.
Patient information leaflet
Campionamento dei villi coriali
Chorionic villus sampling (CVS) is a procedure that is carried out during pregnancy to diagnose or exclude various chromosomal or genetic conditions. Chorionic villus sampling (CVS) is a procedure that is carried out during early pregnancy. If you have, or... Examples include sickle cell anaemia , thalassaemia , cystic fibrosis or Duchenne.
Ulteriori letture e riferimenti
- Emery-Dreifuss muscular dystrophy; MedlinePlus, National Library of Medicine.
- Ben Yaou R, Leturcq F, Bonne G. Emery-Dreifuss Muscular Dystrophy. 2004 Sep 29 [updated 2025 Sep 18]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1436/
- Bonne G, Quijano-Roy S. Emery-Dreifuss muscular dystrophy, laminopathies, and other nuclear envelopathies. Handb Clin Neurol. 2013;113:1367-76. doi: 10.1016/B978-0-444-59565-2.00007-1.
- Emery AE. Emery-Dreifuss muscular dystrophy - a 40 year retrospective. Neuromuscul Disord. 2000 Jun;10(4-5):228-32. doi: 10.1016/s0960-8966(00)00105-x.
- Madej-Pilarczyk A, Kochanski A. Emery-Dreifuss muscular dystrophy: the most recognizable laminopathy. Folia Neuropathol. 2016;54(1):1-8. doi: 10.5114/fn.2016.58910.
- Meinke P, Nguyen TD, Wehnert MS. The LINC complex and human disease. Biochem Soc Trans. 2011 Dec;39(6):1693-7. doi: 10.1042/BST20110658.
- 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. Am J Hum Genet. 2000 Apr;66(4):1407-12. doi: 10.1086/302869. Epub 2000 Mar 16.
- Ziat E, Mamchaoui K, Beuvin M, Nelson I, Azibani F, Spuler S, Bonne G, Bertrand AT. FHL1B Interacts with Lamin A/C and Emerin at the Nuclear Lamina and is Misregulated in Emery-Dreifuss Muscular Dystrophy. J Neuromuscul Dis. 2016 Nov 29;3(4):497-510. doi: 10.3233/JND-160169.
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