ehlers danlos syndrome

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  • 1. +Ehlers DanlosSyndromeMary Chipamn

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 SyndromeHistory Itwas first discovered in 400 BC by Hipprocrates. Itgets its name from two European dermatologists,Edvard Ehlers and Henri-Alexandre Danlos. It isknown to be one of the earliest causes for bruisingand bleeding. 4. +Ehlers Danlos Syndrome ( EDS) Ehlers Danlos Syndrome is aheterogeneous group ofconnective tissue disorders. It iscaused by defect in the Hypermobility: 1 in 10,00-15,000Collagen. The Collagen is partof the connective tissues that Classical: 1 in 20,000-50,000makes sure that the tissues donot deform. Some forms of EDS Vascular: 1 in 100,000-250,000are very dangerous and canlead to sudden death due to Kyphoscoliosis: 60 cases reportedrupturing vessels and organs.Although most forms of EDS do Arthrochalisis: 30 cases reportednot include a short life span.Every type of EDS has the Dermatosparaxis: 10 cases reportedsame symptoms, but in sometypes certain symptoms aremore prominent. 5. +Hypermobility Lose joints, joint dislocation, chronic joint pain and double-jointedness are most prominent in this type. Stretchy skin canbe found, but it isnt 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, easybruising 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 torupture. Big eyes, thin nose and lips, translucent skin, small chin,sunken cheeks. 80% of people with this type will experience very serious healthissues 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. +SymptomsSome 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. +TreatmentTreatmentsImprovement In most cases there isnt much Joint strengthening can bethat can be done. EDS can notdone by working out withbe cured. Physical therapy isweights. Once joints areoften the only way of making itstrengthened it will decreasebetter. Puberty is usually whenthe likelihood of jointit is at its worse. Throughout dislocation. For flat footednesstime it can get better just on its it is recommended to wearown. Some connective arches in all pairs of shoes. It issurgeries can be done to also encouraged that the jointsdecrease pain. There are verythat are double-jointed shouldfew symptoms of EDS that can not ever be stretched.be improved. 13. +Complications Since there really is no treatment for EDS, there are no sideeffects 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 TherapyGene Therapy in EDS Gene therapy is an Gene Therapy can be used andexperimental technique used to is actually recommended fortry and correct or prevent EDS.genetic disorders. For carriers of EDS, if thinking Gene therapy can be done inabout getting pregnant, geneticthree ways. It can replace a counseling is alsomutated gene already present,recommended.inactivate a mutated gene orbring a whole new gene in. 15. BibliographyPictures:http://uechi.typepad.com/konayogacom/2007/06/double_jointed.htmlhttp://www.mayoclinic.com/images/image_popup/r7_edselasticskin.jpghttp://www.edmontonfootdoc.com/wp-content/uploads/2012/04/Flatfoot.jpgInformation:http://www.medicine.wisc.edu/~williams/eds_review_2008.pdf+http://ghr.nlm.nih.gov/handbook/therapy/genetherapyhttp://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002439/http://learn.genetics.utah.edu/content/disorders/whataregd/

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