1. Ehlers-Danlos Syndrome Jenn Huff PESS 462 Dr. Ruth Nearing

2. What is Ehlers-Danlos Syndrome (EDS)? n Heritable connective tissue disorders n Defect in connective tissue, the tissue that provides support to many body parts such as skin, muscles, and ligaments n The fragile skin and unstable joints are because of faulty collagen

3. Ehlers-Danlos Syndrome n Collagen is a protein, which acts as a “glue” in the body, adding strength and elasticity to connective tissue. n Joint hypermobility, skin extensibility, and tissue fragility

4. Causes & Prevalence n Variety of genetic alterations that disrupt the normal production of collagen n Passed on from parent to children n Lack of appropriate collagen synthesis, which leaves their connective tissue weak and unstable. n 1 in 5,000 people are diagnosed n Affects both genders and all racial and ethnic backgrounds

5. Prognosis n Depends on the specific type n Life expectancy can be shortened with the Vascular type because of possible organ and vessel rupture n Life expectancy is not affected in the other types

6. Symptoms n Loose joints (frequent dislocations, joint pain, hyperextensible joints) n Abnormal scar formation n Poor and slow wound healing n Soft, velvety, stretchy skin that bruises and tears easily

7. Less Common Symptoms n Problems with blood clotting n Weak blood vessels n Eye problems n Symptoms can vary depending on the type of EDS

8. Pictures of EDS

9. Six Different Types of EDS n Classical –Skin has a smooth, velvety texture and bruises easily –Joints are hyperextensible, dislocations are common –Decreased muscle tone in children which may delay motor development n Hypermobility –Excessively loose joints, both large and small joints are affected

10. Types of EDS n Vascular –Most severe form –The connective tissue in the intestines, arteries, uterus, and other hollow organs may be unusually weak –Small joints are loose –The skin is thin and translucent n Kyphoscoliosis –Loose joints, low muscle tone at birth, scoliosis at birth, and a fragility of the eyes

11. Types of EDS n Arthrochalasia –Severe generalized joint hypermobility and bilateral hip dislocation present at birth n Dermatosparasis –Severe skin fragility and sagging or aged appearing skin. n Each type runs true in a family. Someone with Vascular Type will not have a child with Classical Type

12. Socio-Emotional Concerns n Most people with EDS look normal n The condition isn’t always taken seriously by doctors, family, and friends n Can be isolating n General lack of awareness and understanding can lead to feelings of frustration, stress, and depression

13. Prevention n Avoid injury n Use protective gear (protective clothing, guards, or padding) n Reduce the clutter (Keep gym area clean) n Use assistive devices (help decrease stress on your joints) n Wear sunscreen

14. Strategies for Coping n Maintain normalcy n Review appropriate caregiving skills (what to do in there is an injury) n Promote activity n Find the best routine

15. Contraindicators n Contact sports n Vigorous, continuous exercise n Heavy lifting

16. Best Activities n Swimming (best activity, less stress on the joints) n Golf n Stationary Bike n Walking n Use softer equipment, such as a foam disc or yarn ball n Individual Adapted Program

17. Video Clip n http://www.ednf.org/ http://www.ednf.org/

18. References n http://www.ednf.org/ http://www.ednf.org/ n http://www.orthop.washington.edu/uw/tabID__3376/ItemID__32/mid_ _10313/PageID__7/Articles/Default.aspx http://www.orthop.washington.edu/uw/tabID__3376/ItemID__32/mid_ _10313/PageID__7/Articles/Default.aspx http://www.orthop.washington.edu/uw/tabID__3376/ItemID__32/mid_ _10313/PageID__7/Articles/Default.aspx n http://www.nlm.nih.gov/medlineplus/ehlersdanlossyndrome.html http://www.nlm.nih.gov/medlineplus/ehlersdanlossyndrome.html n http://www.gtps.k12.nj.us/schools/gtms/genetics/index_files/Page736. html http://www.gtps.k12.nj.us/schools/gtms/genetics/index_files/Page736. html http://www.gtps.k12.nj.us/schools/gtms/genetics/index_files/Page736. html n http://www.ehlers-danlos.org/index.htm http://www.ehlers-danlos.org/index.htm n http://www.answers.com/topic/ehlers-danlos-syndrome?cat=health http://www.answers.com/topic/ehlers-danlos-syndrome?cat=health n http://www.nlm.nih.gov/medlineplus/ency/images/en http://www.newhair.com/images/resources/mp-2002- artofrepair2/image095.jpg cy/fullsize/2409.jpg http://www.nlm.nih.gov/medlineplus/ency/images/en http://www.newhair.com/images/resources/mp-2002- artofrepair2/image095.jpg cy/fullsize/2409.jpg http://www.nlm.nih.gov/medlineplus/ency/images/en http://www.newhair.com/images/resources/mp-2002- artofrepair2/image095.jpg cy/fullsize/2409.jpg n http://www.emedicine.com/derm/images/22902290der0696-02.jpg http://www.emedicine.com/derm/images/22902290der0696-02.jpg