EhlersDanlos Syndrome

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Huh? What is Ehlers-Danlos Syndrome?
Ehlers-Danlos syndrome is a group of rare genetic disorders that diminish the body's ability to make connective tissues. It is caused by the inability of the body to synthesize different collagen types of a defect in synthesis.
EDS affects the connective tissues -- the tissues that support various parts of the body such as skin, muscles, tendons and ligaments. In EDS, the fibrous protein collagen is faulty, causing the connective tissue to not be elastic or strong.
Depending on the individual mutation, the severity of the disease can vary from extremely mild to life-threatening.
There is no known cure, other than symptomatic treatments.
(The above information was taken from http://en.wikipedia.org/wiki/Ehlers-Danlos_Syndrome
and
http://www.arthritis.org/conditions/DiseaseCenter/eds.asp)
Even though it may seem as if not too many people suffer from this illness, information as well as support can be found online. Here are some of the 'main' websites that have been created for those affected by EDS.
Ehlers-Danlos National Foundation
6399 Wilshire Blvd., Suite 510
Los Angeles, CA 90048
213-651-3038
http://www.ednf.org/
Ehlers-Danlos Support Group
http://www.ehlers-danlos.org/
EDS Today
PO Box 88814
Seattle, WA 98138-2814
http://www.edstoday.org/
You may have Ehlers Danlos Syndrome, just like him or her, or even I... but there are many different types within the name itself.
In the past, there were more then 10 recognized types of Ehlers-Danlos syndrome. In 1997, researchers proposed a simpler classification that reduced the number of major types to six and gave them descriptive names.
These six major types are listed below. Other types of the condition may exist, but they have been reported only in single families or are not well characterized.
Except for hypermobility, the specific mutations involved have been identified and they can be precisely identified by genetic testing; this is valuable due to a great deal of variation in individual presentation of symptoms which may confuse classification of individuals on purely symptomatic basis.
In order of prevalence in the population, they are:
* Hypermobility, formerly known as EDS type 3, is caused by an autosomal dominant mechanism. Mutations in either of two separate genes (which are also involved in Vascular EDS and Tenascin-X deficiency EDS, respectively) may lead to this variant, and it can only be identified by examination of a sample of skin collagen. Frequent symptoms include loose and unstable joints; chronic musculoskeletal pain and reduced proprioception may also be present. Major skeletal deformities are not seen. Often these symptoms result in slow or reduced development of motor skills, and a general "clumsiness". Skin abnormalities are mild, so that there is not a clear diagnostic boundary with the non-Ehlers-Danlos hypermobility syndromes mentioned above. Clinically serious effects may include mitral valve prolapse which creates an increased risk for infective endocarditis during surgery, particularly dental surgery, as well as possibly progressing to a life-threatening degree of severity. (OMIM 130020)
* Classical EDS, formerly known as types 1 and 2, affects approximately 2 to 5 in 100,000 people. In addition to the joint and cardiac effects noted above for hypermobility, this variant is characterized by soft, highly elastic, velvety skin which may tear, bruise, or scar easily and/or be slow to heal, and which has a tendency to develop benign fatty growths as well as benign fibrous growths on pressure areas. Pregnancy can be life-threatening in this variant. (OMIM 130000 and OMIM 130010)
* Vascular EDS, formerly known as type 4, is an autosomal dominant defect in the type 3 collagen synthesis; affecting approximately 1 in 100,000 people, it is clinically serious, reducing life expectancy to around 40 years. Joint symptoms are usually limited to the fingers or toes, but the delicate skin noted above is joined by fragile blood vessel walls and organ membranes, with a tendency to rupture or develop aneurysms. Distinctive facial features are associated with this variant; protruding eyes, small chin, thin nose and lips, and sunken cheeks. Pregnancy can be life-threatening in this variant as well. (OMIM 130050)
* Kyphoscoliosis, formerly known as EDS type 6, is an autosomal recessive defect due to deficiency of an enzyme called lysyl hydroxylase; it is very rare, with fewer than 60 cases reported. Symptoms include progressive scoliosis, progressive severe weakness of muscles, and fragile sclera. (OMIM 225400 and OMIM 229200)
* Arthrochalasis, formerly known as EDS types 7A and 7B, is also very rare, with about 30 cases reported. This variant may result in very loose and unstable joints, including the hips, which may lead to early and/or severe osteoarthritis and fractures, and stretchy, fragile skin. (OMIM 130060)
* Dermatosparaxis, formerly known as EDS type 7C, is also very rare, with about 10 cases reported. This variant combines the loose and unstable joints with extremely fragile skin which loses elasticity. (OMIM 225410)
To find info for a 'local chapter' near you... I can suggest this site that is currently being used for arthritis...
http://www.arthritis.org/ChapterLocator.asp
This myspace page grew from finding eachother in the Ehlers Danlos group. There were only a few of us in the beginning and we watched it grow to atleast where it is now. The support that everyone gives is something i would have never imagined. Since Ehlers Danlos Syndrome can be a lot worse than pain 24/7.... we unfortunately lost one of our dearest friends. Barry will always be remembered in our hearts. He was one of the few males to first join the group, which gave the other men some hope. He always had a positive point of view even though he had been to the hospital countless times. Without a cure for such hell, he fought for what gave him some relief.
You will be missed Barry, but never forgotten. You gave me a reality check and a kick in the ass to find our cure.-R.I.P. Barry-