Emery Dreifuss Muscular Dystrophy: Difference between revisions
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== Associated Co-morbidities == | == Associated Co-morbidities<br> == | ||
Individuals with EDMD present with a wide variety of cardiac abnormalities including atrial standstill, atrial fibrillation, congestive heart failure, and cardioembolic stroke. The population is at high risk for devloping severe bradyarrhythmias which carries a risk of sudden death, and supraventricular tachyarrhythmias which are associated with a high risk for thromboembolic stroke. It is important to note that cardiac and muscular involvement have not been shown to be closesly related, with cases of severe cardiomyopathy occuring in patients with only mild muscular symptoms. It is possible for stroke to be the first clinical manifestation of EDMD.<ref name="AHA">Boriani G, Gallina M, Merlini L, et al. Clinical Relevance of Atrial Fibrillation/Flutter, Stroke, Pacemaker Implant, and Heart Failure in Emery-Dreifuss Muscular Dystrophy: A Long-Term Longitudinal Study . Stroke . 2003;34 (4 ):901–908. Available at: http://stroke.ahajournals.org/content/34/4/901.abstract.</ref> | |||
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== Medications == | == Medications == | ||
Revision as of 01:03, 4 March 2014
Original Editors - Kori Ivanchak & Madelaine Nolan from Bellarmine University's Pathophysiology of Complex Patient Problems project.
Top Contributors - Madelaine Nolan, Kim Jackson, Rucha Gadgil, Elaine Lonnemann, Wendy Walker, Evan Thomas, WikiSysop, Meaghan Rieke, Lucinda hampton, Kehinde Fatola and Shreya Pavaskar
Definition/Description[edit | edit source]
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Prevalence[edit | edit source]
There are approximately 250,000 individuals in the United States affected by some type of muscular dystrophy.[1]
The incidence of X-linked Emery Dreifuss Muscular Dystrophy is estimated to affect 1 in 100,000 people in the general population[2][3], and it is believed to be the third most common type of muscular dystrophy.[1] X-linked EDMD is fully expressed in males only; however, 10-20% of female carriers for X-linked EDMD will develop heart conduction defects and/or muscle weakness.[1]
The frequency of autosomal dominant EDMD is unknown. The autosomal recessive type of the disorder is very rare, with only a few reported cases worldwide.[3] The autosomal types of EDMD affect males and females equally. [1]
Characteristics/Clinical Presentation[edit | edit source]
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Associated Co-morbidities
[edit | edit source]
Individuals with EDMD present with a wide variety of cardiac abnormalities including atrial standstill, atrial fibrillation, congestive heart failure, and cardioembolic stroke. The population is at high risk for devloping severe bradyarrhythmias which carries a risk of sudden death, and supraventricular tachyarrhythmias which are associated with a high risk for thromboembolic stroke. It is important to note that cardiac and muscular involvement have not been shown to be closesly related, with cases of severe cardiomyopathy occuring in patients with only mild muscular symptoms. It is possible for stroke to be the first clinical manifestation of EDMD.[4]
Medications[edit | edit source]
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Diagnostic Tests/Lab Tests/Lab Values[edit | edit source]
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Etiology/Causes[edit | edit source]
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Systemic Involvement[edit | edit source]
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Medical Management (current best evidence)[edit | edit source]
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Physical Therapy Management (current best evidence)[edit | edit source]
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Alternative/Holistic Management (current best evidence)[edit | edit source]
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Differential Diagnosis[edit | edit source]
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Case Reports/ Case Studies[edit | edit source]
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Resources
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Recent Related Research (from Pubmed)[edit | edit source]
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References[edit | edit source]
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- ↑ 1.0 1.1 1.2 1.3 Lammerding, J. Emery Dreifuss Muscular Dystrophy. Available at: http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/590/viewFullReport. Accessed March 3, 2014. (accessed 3 March 2014).
- ↑ Helbling-Leclerc A, Bonne G, Schwartz K. Emery Dreifuss Muscular Dystrophy. http://www.nature.com/ejhg/journal/v10/n3/full/5200744a.html (accessed 3 March 2014).
- ↑ 3.0 3.1 Emery Dreifuss Muscular Dystrophy. http://ghr.nlm.nih.gov/condition/emery-dreifuss-muscular-dystrophy (accessed 3 March 2014).
- ↑ Boriani G, Gallina M, Merlini L, et al. Clinical Relevance of Atrial Fibrillation/Flutter, Stroke, Pacemaker Implant, and Heart Failure in Emery-Dreifuss Muscular Dystrophy: A Long-Term Longitudinal Study . Stroke . 2003;34 (4 ):901–908. Available at: http://stroke.ahajournals.org/content/34/4/901.abstract.
