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== Systemic Involvement ==
== Systemic Involvement ==
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Emery Dreifuss Muscular Dystrophy
affects voluntary muscles, as well as the heart. Symptoms typically reveal themselves by the age of 10. Early symptoms include weakness and atrophy in a humero-peroneal distribution, that will eventually affect the scapular and pelvic girdle muscles.<ref name="GeneReviews" /> Contractures will occur, and can make arm, neck, ankle, and spine movements difficult, leading to to "toe-walking" and difficulty bending the elbows.<ref name="MDA" /><br>
+
[[Image:Body EDMD.jpg|right|Areas affected by
Emery Dreifuss Muscular Dystrophy
]]
-
Cardiac conduction defecits and arrythmias may occur, resulting in dilated cardiac myopathy, poor exercise tolerance
,
bradycardia, syncope, congestive heart failure, and an increased risk
of
stroke
and
sudden death
.<ref name="
GHR
" /><ref name="
EJHG
" />
+
Emery Dreifuss Muscular Dystrophy affects voluntary muscles
,
as well as the heart. Symptoms typically
reveal themselves by the age
of
10. Early symptoms include weakness
and
atrophy in a humero-peroneal distribution, that will eventually affect the scapular and pelvic girdle muscles
.<ref name="
GeneReviews
" />
Contractures will occur, and can make arm, neck, ankle, and spine movements difficult, leading to to "toe-walking" and difficulty bending the elbows.
<ref name="
MDA
" /
><br
>
-
Women who are genetic carriers for X-linked EDMD
may
also be at risk for
cardiac
problems
,
with the
risk
increasing with age. However, carriers tend not to present with muscle weakness or contractures
.<ref name="
MDA
" />
<
br
>
+
Cardiac conduction defecits and arrythmias
may
occur, resulting in dilated
cardiac
myopathy
,
poor exercise tolerance, bradycardia, syncope, congestive heart failure, and an increased
risk
of stroke and sudden death
.<ref name="
GHR
" /><
ref name="EJHG" /
>
-
[[Image:Body_EDMD
.
jpg|Areas affected by Emery Dreifuss Muscular Dystrophy]]
+
Women who are genetic carriers for X-linked EDMD may also be at risk for cardiac problems, with the risk increasing with age
.
However, carriers tend not to present with muscle weakness or contractures.<ref name="MDA" /> <br>
== Medical Management (current best evidence) ==
== Medical Management (current best evidence) ==
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== Physical Therapy Management (current best evidence) ==
== Physical Therapy Management (current best evidence) ==
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add text here
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Physical Therapy for patients with Emery Dreifuss Muscular Dystrophy is centered on treating the impairments that result from the disease. Active and passive exercises to build muscle strength and prevent contractures are the primary focus. Assistive devices including canes, braces, and wheelchairs may be used to aid in ambulation<ref name="Rare Diseases" />.
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+
<br>
== Alternative/Holistic Management (current best evidence) ==
== Alternative/Holistic Management (current best evidence) ==
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== Differential Diagnosis ==
== Differential Diagnosis ==
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Emery Dreifuss Muscular Dystrophy must be differentiated from other diagnoses, primarily, the other types of muscular dystrophies.
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+
*Duchenne Muscular Dystrophy- First recognized at age 3 to 6. Characterized by muscle weakness and atrophy starting in the pelvic area, progressing to shoulders, and eventually most major muscles of the body.<ref name="Rare Diseases" />
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*Becker Muscular Dystrophy- Begins during second or third decade of life. Affects males almost exclusively. Hip and shoulder muscles are weakened, gait abnormalities develop, as well as possible mild mental retardation.<ref name="Rare Diseases" />
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*Fascioscapulohumeral Muscular Dystrophy (Landouzy-Dejerine Muscular Dystrophy)- Onset is usually during adolescence or early adulthood. Characterized by weakness of facial, shoulder, and upper arm muscles. Impaired ability to close eyes, move the lips, and raise arms overhead may occur. Eventually weakness and atrophy may affect the lower extremity as well.<ref name="Rare Diseases" />
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*Limb Girdle Muscular Dystrophy- a group of rare progressive genetic disorders characterized by atrophy and weakness of the hip and shoulder girdles.<ref name="Rare Diseases" />
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*Rigid Spine Syndrome- rare neuromuscular disorder characterized by hypotonia, weakness, contractures, and atrophy of muscles. Scoliosis often occurs. May occur in conjunction with EDMD.<ref name="Rare Diseases" />
+
*Myopathies- Diseases to consider may include Pompe disease, dermatomyositis, polymyositis, and nemaline myopathy.<ref name="Rare Diseases" />
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*Myasthenia Gravis- autoimmune disorder of the peripheral nerves characterized by weakness with repetitive use of a muscle, followed by recovery during a period of rest. Most commonly affects the bulbar muscles with fluctuating generalized weakness.<ref name="DDx">Lopate, G. Emery-Dreifuss Muscular Dystrophy differential diagnosis. http://emedicine.medscape.com/article/1178994-differential (accessed 6 March 20).</ref>
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*Spinal Muscular Atrophy- Presents with weakness and atrophy in the limbs, respiratory, and bulbar muscles.<ref name="DDx" />
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<br>
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<br>
== Case Reports/ Case Studies ==
== Case Reports/ Case Studies ==
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== Resources <br> ==
== Resources <br> ==
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add appropriate resources here
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<u>Resources for patients and families affected by Emery Dreifuss Muscular Dystrophy:</u>
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The Muscular Dystrophy Association [http://mda.org/ mda.org/]
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National Libray of Medicine Genetics Home Reference [http://ghr.nlm.nih.gov/condition/emery-dreifuss-muscular-dystrophy ghr.nlm.nih.gov/condition/emery-dreifuss-muscular-dystrophy]
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Muscular Dystrophy Campaign [http://www.muscular-dystrophy.org/ www.muscular-dystrophy.org/]
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World Muscle Society [http://www.worldmusclesociety.org/ www.worldmusclesociety.org/]
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Support Groups [http://mda.org/services/finding-support/support-groups mda.org/services/finding-support/support-groups]
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NIH/National Institute of Neurological Disorders and Stroke [http://www.ninds.nih.gov/ www.ninds.nih.gov/]
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Children's Cardiomyopathy Foundation [http://www.childrenscardiomyopathy.org www.childrenscardiomyopathy.org]
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New Horizons Unlimited [http://www.new-horizons.org www.new-horizons.org]
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[http://www.new-horizons.org ][http://rarediseases.info.nih.gov/GARD/AboutGARD.aspx ]
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Genetic and Rare Diseases (GARD) Information Center [http://rarediseases.info.nih.gov/GARD/AboutGARD.aspx rarediseases.info.nih.gov/GARD/AboutGARD.aspx]
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Madisons Foundation [http://www.madisonsfoundation.org www.madisonsfoundation.org]
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Cure CMD (Congenital Muscular Dystrophy) [http://www.curecmd.org www.curecmd.org]
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Child Neurology Foundation [[ http://www.childneurologyfoundation.org|www.childneurologyfoundation.org]]
== Recent Related Research (from [http://www.ncbi.nlm.nih.gov/pubmed/ Pubmed]) ==
== Recent Related Research (from [http://www.ncbi.nlm.nih.gov/pubmed/ Pubmed]) ==