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Untitled Prezi

Ehler Danlos project

tania Boeskin

on 13 February 2014

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Transcript of Untitled Prezi

Ehlers-Danlos Syndrome
What is Ehlers Danlos Syndrome (EDS)?
What is Connective Tissue ?
Progression & Complications
Though life with EDS will have many difficulties, those with the more common forms of EDS can expect to have a normal life span.
EDS is the name for a group of genetic disorders that affects the connective tissues in the body.
There are several major types of this disease which are characterized by defective connective tissues causing a variety of symptoms, mainly with the joints and skin.
To understand EDS it is helpful to know a little about connective tissue.
Connective Tissue
is Made of Collagen
Connective tissue is found throughout the body and does a variety of things for us; it binds our organs together, support us (bones), helps us move around (muscles), protect us and keeps us warm (fat), provides immune protection, and serves as a way for our body to transport all the many substances that we have inside us to where they need to go (blood).
With all the connective tissue in our bodies, it is easy to see why having it be defective is a big problem!
Most connective tissue is primarily made up of the protein collagen; which is the most abundant protein in our body.
Collagen is found in many common items like leather, gelatin and glue. In other words it is TOUGH, FLEXIBLE and can BIND THINGS TOGETHER
really well.
People with EDS have particular mutations in their genetic makeup that cause abnormalities in their collagen.

This leads to defects in their connective tissue.
(U.S. National Library of Medicine)

Manifestation of symptoms
Though each type of EDS has specific symptoms associated with it, there are some symptoms that are common to most types. These include:
-Hypermobile joints
-Unstable joints that are prone to dislocation
-Joint pain
-Skin that is velvety soft and tears easily
-Fragile skin that tears and bruises easily
-Overly stretchy skin
-Abnormal scarring
-Difficulty healing wounds
-Eye problems
(Penn State Hershey, Milton S. Hershey Medical Center)
(Parapia and Jackson)
(Parapia and Jackson)
(Department of Orthopaedics and Sports Medicine, University of Washington)
Stretchy Skin
Overly Flexible Joints
Fragile skin

However, in some of the rare forms of the disease, such as Vascular EDS, there can be severe complications that pose a high risk of sudden death.
U.S. National Library of Medicine)
Some of the possible complications associated with EDS are:
-Chronic joint pain

-Early onset arthritis

-Failure of surgical wounds to close

-Stitches that tear out from skin fragility

-Rupture of the eyeball

-Rupture of blood vessels and organ
How do you
get EDS?
Since EDS is a genetic disease, you cannot contract it, you have to inherit it from your parents. There are 2 patterns for inheritance;
Autosomal Dominant
Autosomal Recessive
Only one parent has to have a copy of the abnormal gene.
Both parents must have a copy of the abnormal gene.
50% chance of having the disease
25% chance of having the disease.
(Ehlers-Danlos National Foundation)
There is no cure for EDS. Medical intervention is targeted at alleviating symptoms
At this time, research statistics of EDS show the prevalence as 1 in 2,500 to 1 in 5,000. It is known to affect both males and females of all racial and ethnic backgrounds.
Physical Therapy
for EDS
It works kind of like glue in our bodies.
Types of Connective Tissues
One of the biggest issues facing people with EDS is acute and chronic musculoskeletal pain that tends to get worse over time.
Repeated dislocations and/or sublaxations (partial dislocations) are common in the overly mobile joints of people with EDS. Due to these repeated injuries the muscles and ligaments supporting the joints never fully heal.
This causes chronic pain and further joint laxity (looseness) making re-injury even more likely.
The normal goals of physical therapy used to address joints issues are relevant to people with EDS.

Decreasing pain
Strengthening to prevent further injury
However, extreme caution must be used to avoid damage to fragile joints and skin,
specific considerations for exercise and pain relief techniques are necessary.
Physical Therapy Considerations
Because they already have excessive mobility in their joints, exercise should proceed in a very limtied range of motion.
Avoid vigorous stretching, even if they complain of tightness

-Avoid exercising in their full range of motion

-Avoid aggressive rapid muscle building

-No aggressive massage to protect skin integrity.
-Start with a focus on symptom relief, gentle joint mobilization, education about biomechanics, and assisted exercise in a protected range of motion.

- When pain subsides, use 'Dynamic Stabilization" or exercise to promote joint stabilization, but in a gentle and gradual manner.

-Use closed-chain exercises for better protection of the joint, but incorporate open-chain too in a controlled range.

-Use pool therapy for exercise while relieving stress on joints
Pain relief modalities should be used with caution due to fragility of skin.
(Ehlers-Danlos National Foundation
The symptoms run a spectrum from relatively mild; such as overly mobile joints and stretchy skin, to more life threatening symptoms; such as ruptures in blood vessels and organs, found in the more rare forms of EDS. (U.S. National Library of Medicine)
Department of Orthopaedics and Sports Medicine, University of Washington. Ehlors- anlosSyndrome. 21 03 2011. Document. 20 06 2013.

Ehlers-Danlos National Foundation. Ehler-Danlos National Foundation http://www.ednf.org/index.php?option=com_frontpage. 2009. 26 06 2013.

Greene, Denver. Connexions http://cnx.org/content/m43137/1.1/. 17 February 2012. document. 21 06 2013.

Parapia, Liakat A and Carolyn Jackson. "Ehlers-Danlos syndrome – a historical review." British Journal of Haematology (2008): 141, 32–35.

Penn State Hershey, Milton S. Hershey Medical Center. "Hyperelastic Skin." 20 11 2012. photo. 20 June 2013.

Saladin, Kenneth S. Anatomy & Physiology, the unity of form and Function 4th ed. New York: Mc Graw-Hill, 2007. book.

U.S. National Library of Medicine. Ehlers-Danlos syndrome. 8600 Rockville Pike, Bethesda, MD 20894, 26 November 2012. Genetics Home Reference.
—. Medline Plus. 10 11 2012. Document. 21 06 2013.

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