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Clinical aspects of Emery-Dreifuss muscular dystrophy [PDF]
Nucleus, 2018 Emery-Dreifuss muscular dystrophy (EDMD), clinically characterized by scapulo-humero-peroneal muscle atrophy and weakness, multi-joint contractures with spine rigidity and cardiomyopathy with conduction defects, is associated with structural/functional defect of genes that encode the proteins of nuclear envelope, including lamin A and several lamin ...
Agnieszka Madej-Pilarczyk
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Emery-Dreifuss muscular dystrophy
Current Neurology and Neuroscience Reports, 2007Emery-Dreifuss muscular dystrophy (EDMD) is inherited in an X-linked or autosomal manner. X-linked EDMD is caused by mutations in EMD, which encodes an integral protein of the nuclear envelope inner membrane called emerin. Autosomally inherited EDMD is caused by mutations in LMNA, which encodes A-type nuclear lamins, intermediate filament proteins ...
Antoine, Muchir, Howard J, Worman
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Emery-Dreifuss Muscular Dystrophy
2013Emery-Dreifuss muscular dystrophy (EDMD) is a genetically heterogeneous muscular disease characterized by the triad of (1) early contractures of the elbows, ankles, and cervical spine; (2) humero-peroneal muscle wasting and weakness; and (3) cardiomyopathy (Emery AE, Dreifuss FE, J Neurol Neurosurg Psychiatry, 29:338–342, 1966).
N.M. MARALDI, L. MERLINI
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Emery‐dreifuss muscular dystrophy
Annals of Neurology, 1979AbstractA 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 +5 more
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Emery–Dreifuss muscular dystrophy
2011Emery-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, 1991Orthopedic 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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Anaesthetic Management of a Patient with Emery-Dreifuss Muscular Dystrophy [PDF]
Anaesthesia and Intensive Care, 2002 Emery-Dreifuss muscular dystrophy is a rare form of muscular dystrophy associated with cardiac implications such as cardiomyopathy and arrhythmias leading to sudden death. We describe the anesthetic management of a patient with Emery-Dreifuss muscular dystrophy who presented for orthopaedic surgery and discuss the disorder and its potential anaesthetic
Ramesh Agarwal
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Emery–Dreifuss muscular dystrophy with cardiac manifestations
British Journal of Hospital Medicine, 2005An 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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Investigating the pathology of Emery–Dreifuss muscular dystrophy
Biochemical Society Transactions, 2008EDMD (Emery–Dreifuss muscular dystrophy) is caused by mutations in either the gene encoding for lamin A/C (LMNA) located at 1q21.2–q21.3 or emerin (EMD) located at Xq28. Autosomal dominant EDMD caused by LMNA mutations is more common than the X-linked form and often more severe, with an earlier onset.
Susan C, Brown +3 more
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The rigid spine syndrome and Emery-Dreifuss muscular dystrophy
Clinical Neurology and Neurosurgery, 1986We present five patients, three of whom suffered from a rigid spine syndrome and two from Emery-Dreifuss muscular dystrophy. One patient with rigid spine syndrome showed a nonprogressive course, normal cardiac rhythm and mild myopathic changes in muscle histology, while in the other two patients there was a rapidly progressive course, sinus tachycardia
Hideo Hara +2 more
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