Results 171 to 180 of about 8,752 (229)

Emery‐dreifuss muscular dystrophy

Annals of Neurology, 1979
AbstractA man had weakness of humeroperoneal distribution associated with limited range of motion of the cervical spine and elbows. At age 25 he developed permanent atrial paralysis, and a cardiac pacemaker was inserted. Although this case was sporadic, most others have been transmitted as an X‐linked recessive trait. Mixed patterns in electromyography
L P, Rowland, M, Fetell, M, Olarte, A, Hays, N, Singh, F E, Wanat   +5 more
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Emery–Dreifuss muscular dystrophy

2011
Emery-Dreifuss muscular dystrophy (EDMD) is a progressive muscle-wasting disorder defined by early contractures of the Achilles tendon, spine, and elbows. EDMD is also distinctive for its association with defects of the cardiac conduction system that can result in sudden death.
Megan, Puckelwartz, Elizabeth M, McNally
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Orthopedic Deformities in Emery–Dreifuss Muscular Dystrophy

Journal of Pediatric Orthopaedics, 1991
Orthopedic deformities in Emery-Dreifuss muscular dystrophy are discussed based on a study of four patients and an extensive literature review. The condition is characterized by slowly progressive humeroperoneal muscle weakness; ankle equinus, elbow flexion, and neck extensor muscle contractures; paravertebral muscle tightness; and cardiac ...
F, Shapiro, L, Specht
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Emery‐Dreifuss muscular dystrophy with unusual features

Muscle & Nerve, 1993
AbstractTwo families with Emery‐Dreifuss muscular dystrophy (EMD) are described. Several unusual features for EMD are emphasized. One of the patients had severe neuromuscular disability with inability to walk during early childhood. This patient also had mild bifacial paresis. His brothers had the typical slow progression of EMD.
F, Deymeer, A E, Oge, C, Bayindir, C, Kaymaz, Y, Nişanci, K, Adalet, J R, Yates, C, Ozdemir   +7 more
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Emery–Dreifuss muscular dystrophy with cardiac manifestations

British Journal of Hospital Medicine, 2005
An asymptomatic 40-year-old man attended clinic for cardiology assessment before cataract surgery. He had been diagnosed 9 years earlier with a ‘non specified limb-girdle muscular dystrophy’ following investigation for lower limb muscle weakness. Earlier electrocardiograms (ECGs) showed a bradycardic, junctional escape rhythm of 30–40 beats per minute
D, Cullington, J R, Pyatt
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Mutation analysis in emery-dreifuss muscular dystrophy

Pediatric Neurology, 1999
The purpose of this study was to search for STA gene defects in three families with clinically typical Emery-Dreifuss muscular dystrophy. Emery-Dreifuss is an X-linked muscular dystrophy with humeroperoneal weakness and life-threatening, but treatable, cardiac abnormalities in male patients and in female carriers.
Y, Nevo, M, Al-Lozi, A S, Parsadanian, J L, Elliott, A M, Connolly, A, Pestronk   +5 more
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Cardiac involvement in Emery–Dreifuss muscular dystrophy

Clinical Genetics, 2005
Emery–Dreifuss muscular dystrophy (EDMD) is a common form of muscular dystrophy frequently involving cardiac muscle, thus leading to dilated cardiomyopathy. Clinical outcome and prognosis is frequently determined by the involvement of the cardiac conduction system causing symptomatic bradyarrhythmias, as well as tachyarrhythmias and, if untreated ...
R, Wessely, S, Seidl, A, Schömig
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Emery-Dreifuss Humeroperoneal Muscular Dystrophy: Cardiac Manifestations

Canadian Journal of Cardiology, 2012
Emery-Dreifuss muscular dystrophy (EDMD) is an inherited disorder affecting skeletal and cardiac muscles and characterized by muscular atrophy, contractures, and cardiomyopathy with conduction defects. It can be X-linked or autosomal. Not all patients with EDMD develop heart involvement, but heart disease associated with EDMD can be unpredictable and ...
Parmar, Malvinder S., Parmar, Kamalpreet S.   +1 more
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Emery-Dreifuss Muscular Dystrophy

Nihon rinsho. Japanese journal of clinical medicine, 1998
Emery-Dreifuss muscular dystrophy (EDMD) is an inherited muscular disorder characterized by the triad of progressive weakness in humero-peroneal muscles, early onset contractures and cardiomyopathy with conduction block that shows a high risk of sudden death. In 1994, the gene responsible for X-linked EDMD has been identified to Xq28 (designated as STA)
Toniolo D, Bione S, Arahata K
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Molecular signatures of Emery–Dreifuss muscular dystrophy

Biochemical Society Transactions, 2008
Mutations in genes encoding the nuclear envelope proteins emerin and lamin A/C lead to a range of tissue-specific degenerative diseases. These include dilated cardiomyopathy, limb-girdle muscular dystrophy and X-linked and autosomal dominant EDMD (Emery–Dreifuss muscular dystrophy).
Wheeler, Matthew A., Ellis, Juliet A.
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