EHLERS-DANLOS SYNDROME

 By. Erik, Janelle, Kay and Ryan

http://geneticpeople.com/wp-content/uploads/2009/09/untitled1wk3.jpg

CLASSICAL (TYPE I & II) SYMPTOMS

-Skin Hyperextensibility (Stretchy (like Laffy Taffy!))-Skin is velvety to the touch, smooth and easy to bruise and tear-Joint Hyper Mobility-Leads to sprains, dislocations, and subluxations -Slow and poor wound healing leading to wide scarring-Muscle fatigue and pain-Heart valve problems including mitral valve prolapse and aortic root dilation Classical Type I and II affects 1 in 10,000 to 20,000 people.                                                      Work Cited from Mayo Clinic

HYPERMOBILITY (TYPE III)  SYMPTOMS

                                                                 

-Loose, unstable, joints with many dislocations.-Easy bruising-Muscle fatigue and pain-Chronic Degenerative joint disease-Advanced premature osteoarthritis with chronic pain-Heart valve problems including mitral valve prolapse and aortic root dilation Hypermoblitiy affect approximatley 1 in 10,000 to 15,000 people

VASCULAR TYPE (TYPE IV) SYMPTOMS -Fragile blood vessels and organs that are prone to tearing and rupture-Thin, translucent skin that bruises easily-Characteristic facial appearance, including protruding eyes, thin nose and lips, sunken cheeks and a small chin-Collapsed lung (pneumothorax)-Heart valve problems including mitral valve prolapse and many others       

 http://www.ehlersdanlosnetwork.org/vascular-chest.jpg

 The Vascular type of EDS is the most dangerous to the people it affects. It is also one of the rarest of the six types affecting 1 in 100,000 to 200,000.  There are two other types of EDS but they are extremely rare and not well defined.

GENETIC OCCURENCES The different conditions that contribute to the genetic occurrence of Ehlers-Danlos Syndrome.  Autosomal dominant inheritance where the child has a 50% chance of inheriting the disease from the one parent has a 50% chance of passing on the disease.  

Autosomal recessive inheritance occurs when both parents carry one copy of the mutated gene will have a 25% passing on the gene

with each pregnancy.

X-linked dominant inheritance occurs differently in men and women because of the X and Y chromosomes.  The male passes on his Y chromosome to all of his sons

and his X chromosome to all of his daughters. Therefore, the sons of a man with an X-linked dominant disorder will not be affected, but all of his daughters will inherit the condition.  Women pass on one or the otherof her X chromosomes to each child. Therefore, a woman with an X-linked dominant disorder has a 50 percent chance of having an affected daughter or son

with each pregnancy.    

GENETIC OCCURENCE (CONTINUED)X-linked recessive inheritance : The probability of passing on  X-linked recessive disorder  is also different between men and women. The sons of a man with an X-linked recessive disorder are not affected, and his daughters will carry one copy of the mutated gene With each pregnancy, a woman who carries an X-linked recessive disorder has a 50 % chance of having sons who are affected and a 50% chance of having daughters who carry one copy of the mutated gene.                                                      Codominant  inheritance :  Both parents give a different version of a                                          gene, and both influence the resulting genetic trait. The                                               characteristics depend which  versions of the gene are passed from parents to the child  Mitochondrial inheritance: Mitochondrial  disorders can affect both males and females, only females can pass mutations in mitochondrial DNA to their children

ED syndrome is an inherited genetic syndrome that affects the genes by causing mutations in the genes.( ADAMTS2, COL1A1, COL1A2, COL3A1 ,COL5A1, COL5A2, PLOD1, and TNXB,  genes.)

The Collagen genes provide blueprints for the assembly of collagens from protein. These molecules give structure and strength to connective tissues throughout the body. Other genes ADAMTS2, PLOD1, and TNXB give the instructions to the proteins to work with the collagen. These genetic mutations cause disruptions to the structure, as well as collagen production processing problems. The genetic defect weakens connective tissues in the bones, skin, and other parts of the body.      

http://medpediamedia.com/u/Col3a1.jpg/Col3a1.jpg

EDS IN THE MEDIAIn this particular article we follow a young woman named Fiona and her journey through EDS.

• By the age of 20, Fiona Kennedy was dislocating joints – elbows, knees, ankles, shoulders, toes, ribs and fingers – 1000 times a year.

• At this age, the condition took a turn for the worse and the mass dislocations began – she once had 18 shoulder dislocations in one day. But Fiona refused to let the pain get the better of her, although she took no painkillers.

• Now 27, Fiona is enjoying her first few weeks without pain – or dislocations – thanks to pioneering work by surgeon Gordon Mackay. A short time ago he carried out the last of ten operations, which began in March 2007, using techniques he perfected while working on injured sports stars.

•  Mr Mackay, one of the co-founders of the SPACE Clinic on Dalry Road along with former rugby star Gregor Townsend, explains: "We used keyhole surgery so that we could focus on the stretched tissue, which we were able to tighten."

•   For Fiona it has, so far, proved a complete cure from a condition which first surfaced when she was 14. Stepping out of a car, she dislocated her kneecap. "I was in plaster for a couple of weeks but I just thought it was one of those things."

        http://edinburghnews.scotsman.com/features/Pioneering-op-helps-Fiona-see.4821466.jp 

 

EDS IN THE MEDIAIn severe cases the smallest day to day tasks are nearly impossible. A young woman named Lisa has the disease and finds it nearly impossible to play video games. She is constantly dislocating her thumb as she plays the game. Instead of surgery she bought a specialized glove to help keep her thumb from dislocating.  

http://edinburghnews.scotsman.com/features/Pioneering-op-helps-Fiona-see.4821466.jp

Lisa's glove looked similar to this.

Another young girl named Olivia has the same muatation. She couldn't go outside and play without dislocating her knees or hips. Instead of surgery she went with a Second Skin Suit made out of Lyrcra. The suit holds her body together tightly so the risk for dislocation is almost non-existent.New innovations in technology are creating new braces for all different types of EDS. The braces range from small finger braces to full suits.      

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members.dcsi.net.au

TEST QUESTION 1 & 2

Q1-What type of Elhers Danlos Syndrome is the most serious?  Q2-Which type has symptoms that include Chronic degenerative joint disease and advanced premature osteoarthritis?

Answer choices A.Classical Type I and IIB. Hypermobility Type IIIC. Vascular Type IV 

TEST QUESTION 3 & 4

Q3-What is the goal of the new surgery treatment for EDS?      Q4- What body system are the mutated genes affecting?

A. Increasing bloodflowB. Stretching tight tissueC. Increasing endorphinsD. Tightening stretched tissue   A. Digestive B. ReproductiveC. MuscularD. Excretory  

CREDITS This presentation was brought to you by:

Kay Bolerjack, Ryan Butler, Erik Holfelder and Janelle Kloosterman in the Summer semester of 2010.

CREDITS Kay Bolerjack- Research , content & photos Ryan Butler/ Erik Holfelder- Worked diligently on

the symptoms, writing portion and content of this presentation.

Janelle Kloosterman- Research, media & photos.

OUTLINE:

1.  Introduction (Laffy Taffy/ Stretches)2.  Introduction to ED syndrome (Ryan)3. Types and symptoms4. Current information and research5. Genetic Occurences6. Options for coping with syndrome (Article about girl

treatment)7. Article of interest/scientific article connection8. questions about this genetic disease9. Work cited

WORK CITED  Centre for Genetics Education. "Ehlers-Danlos Syndrome." Genetics Home Reference. N.p., 25 July 2010.        Web. 26 July 2010. http://ghr.nlm.nih.gov/condition/ehlers-danlos-syndrome.   Centre for Genetics Education. "If a genetic disorder runs in my family, what are the chances that my children will have the condition?" Genetics Home Reference. N.p., 25 July 2010. Web. 26 July 2010. http://ghr.nlm.nih.gov/handbook/inheritance/riskassessment.  Mayo Clinic Staff. "Ehlers-Danlos Syndrome Symptoms." Mayo Clinic. N.p., 8 July 2010. Web. 26 July 2010. <http://www.mayoclinic.com/health/ehlers-danlos-syndrome/DS00706/      DSECTION=symptoms>.    

WORK CITED

Sheen, Volney L., and Christopher A. Walsh. "Periventricular Heterotopia: New Insights into Ehlers-Danlos Syndrome ." Clinical Medical Research. N.p., 7 Sept. 2005. Web. 26 July 2010. <http://www.clinmedres.org/cgi/content/full/3/4/229>.  Vickers, Judy. "Pioneering op helps Fiona see the back of daily dislocations." Edinburgh Evening

News. Johnston Press Digital Publishing, 24 Dec. 2008. Web. 26 July 2010. <http://edinburghnews.scotsman.com/features/Pioneering-op-helps-Fiona-see.4821466.jp>.