Emery Dreifuss Muscular Dystrophy: Difference between revisions

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== Prevalence  ==
== Prevalence  ==


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There are approximately 250,000 individuals in the United States affected by some type of muscular dystrophy.<ref name="Rare Diseases">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).</ref>
 
The incidence of X-linked Emery Dreifuss Muscular Dystrophy is estimated to affect 1 in 100,000 people in the general population 3,4,&nbsp;and it is believed to be the third most common type of muscular dystrophy.<ref name="Rare Diseases" /> 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.
 
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. 4 The autosomal types of EDMD affect males and females equally.&nbsp;<ref name="Rare Diseases" /><br>
 
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== Characteristics/Clinical Presentation  ==
== Characteristics/Clinical Presentation  ==

Revision as of 00:11, 4 March 2014

Welcome to PT 635 Pathophysiology of Complex Patient Problems This is a wiki created by and for the students in the School of Physical Therapy at Bellarmine University in Louisville KY. Please do not edit unless you are involved in this project, but please come back in the near future to check out new information!!

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 3,4, 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.

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. 4 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]

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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. 1.0 1.1 1.2 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).