Ehlers Danlos Syndrome

1. Mary Chipamn Ehlers Danlos Syndrome

2. Genetic Disorders Genetic disorders can be caused by abnormalities in genes or chromosomes. In some cases the disorder is passed down from the parents, but it can also be caused by mutations in DNA. If a genetic disorder is hereditary it means that there is a mutated gene being passed down through the family. The mutation is carried in the parents reproduction cell. When the offspring is being produced the mutation will go into every cell in their body.

3. Ehlers Danlos Syndrome It was first discovered in 400 BC by Hipprocrates. It gets its name from two European dermatologists, Edvard Ehlers and Henri- Alexandre Danlos. It is known to be one of the earliest causes for bruising and bleeding. History

4. Ehlers Danlos Syndrome ( EDS) Hypermobility: 1 in 10,00-15,000 Classical: 1 in 20,000-50,000 Vascular: 1 in 100,000-250,000 Kyphoscoliosis : 60 cases reported Arthrochalisis : 30 cases reported Dermatosparaxis : 10 cases reported Ehlers Danlos Syndrome is a heterogeneous group of connective tissue disorders. It is caused by defect in the Collagen. The Collagen is part of the connective tissues that makes sure that the tissues do not deform. Some forms of EDS are very dangerous and can lead to sudden death due to rupturing vessels and organs. Although most forms of EDS do not include a short life span. Every type of EDS has the same symptoms, but in some types certain symptoms are more prominent.

5. Hypermobility Lose joints, joint dislocation, chronic joint pain and double- jointedness are most prominent in this type. Stretchy skin can be found, but it isn’t as severe as in other types. It is caused by mutations genes

6. Classical In this type the skin is highly affected. Elastic –like skin, easy bruising and scarring are commonly found. Caused mainly from defective Collagen

7. Vascular This is considered to be the most dangerous form of EDS. Organs and vessels are very weak so they are very likely to rupture. Big eyes, thin nose and lips, translucent skin, small chin, sunken cheeks. 80% of people with this type will experience very serious health issues by the age of 40.

8. Kyposcoliosis Caused by a deficiency of a certain enzyme Very weak muscles, eyes and spine

9. Arthrochalisis Very lose joints, especially in the hips Dislocation of joints often

10. Dermatosparaxis Extremely saggy skin Easily bruised and scared

11. Symptoms Some symptoms of EDS are: Difficulty in healing wounds Easy scarring and bruising Elastic-like skin Double- jointedness Extremely lose joints Flat feet Joint pain and dislocation

12. Treatment In most cases there isn’t much that can be done. EDS can not be cured. Physical therapy is often the only way of making it better. Puberty is usually when it is at its worse. Throughout time it can get better just on its own. Some connective surgeries can be done to decrease pain. There are very few symptoms of EDS that can be improved. Joint strengthening can be done by working out with weights. Once joints are strengthened it will decrease the likelihood of joint dislocation. For flat footedness it is recommended to wear arches in all pairs of shoes. It is also encouraged that the joints that are double-jointed should not ever be stretched. Treatments Improvement

13. Complications Since there really is no treatment for EDS, there are no side effects to treatment. How ever, there are many complications that can happen by having it. Some complications include: Rupture in organs and major vessels Rupture of the eyeball Rupture of membranes in pregnancy Arthritis Joint pain

14. Gene Therapy Gene therapy is an experimental technique used to try and correct or prevent genetic disorders. Gene therapy can be done in three ways. It can replace a mutated gene already present, inactivate a mutated gene or bring a whole new gene in. Gene Therapy can be used and is actually recommended for EDS. For carriers of EDS, if thinking about getting pregnant, genetic counseling is also recommended. Gene Therapy Gene Therapy in EDS

15. Bibliography Pictures: http://uechi.typepad.com/konayogacom/2007/06/ double_jointed.html http ://www.mayoclinic.com/images/image_popup/ r7_edselasticskin.jpg http ://www.edmontonfootdoc.com/wp-content/uploads/2012/04/ Flatfoot.jpg Information: http://www.medicine.wisc.edu/~williams/eds_review_2008. pdf http://ghr.nlm.nih.gov/handbook/therapy/ genetherapy http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002439 / http ://learn.genetics.utah.edu/content/disorders/whataregd /