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RETT SYNDROME

Human Genetics Webquest Alex Henson. RETT SYNDROME. MEDICAL. How does a person inherit it? Is it dominant or recessive?. 95% of the time it is caused by “de novo” mutation, so they don’t inherit it from either parent.

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RETT SYNDROME

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  1. Human Genetics Webquest Alex Henson RETT SYNDROME

  2. MEDICAL

  3. How does a person inherit it? Is it dominant or recessive? • 95% of the time it is caused by “de novo” mutation, so they don’t inherit it from either parent. • The other 5% of the time its inherited from phenotypically normal moms who have germline mutations in the MECP2 gene. • It is dominant.

  4. What are the possible genotypes of the parents? • If the mom has a germline mutation of MECP2, it is located on the x chromosome at Xq28. • If it is caused by a de novo mutation the gene that is mutated is the male copy of the X chromosome of the MECP2 gene.

  5. How prevalent is this disease? • About 1 in every 12,500 females have Rett syndrome by the age of 12. • Because it is on the X chromosome, if a male has the disease they usually can not survive because they don’t have another normal X chromosome that can make the necessary proteins.

  6. What are the chances of passing on this disease? • If the mom has the disease, when/if she passes it on to her children, it is VERY unlikely that she will pass it on to the next child.. • If the mom has it on the MECP2 gene she can give it to her offspring

  7. How is Rett Syndrome Diagnosed? • Usually the person that has Rett syndrome is not diagnosed until 6-18 months old. They will have symptoms similar to autism, and sometimes will be misdiagnosed, and also similar symptoms of cerebral palsy, but the regression is different. • “Doctors diagnose Rett syndrome by observing signs and symptoms during the child's early growth and development, and conducting ongoing evaluations of the child's physical and neurological status.” • They also have recently made a genetic test that confirms whether or not the child has the disease.

  8. Symptoms • screaming fits • Panic attacks • inconsolable crying • avoidance of eye contact • lack of social/emotional reciprocity • general lack of interest • impaired use of nonverbal behaviors to regulate social interaction • loss of speech • Balance and coordination problems

  9. Symptoms (continued) • possible short stature, and/or might be unusually proportioned because of difficulty walking or mailnutrition due to difficulty swallowing. • hypotonia • delayed or absent ability to walk • gait/movement difficulties • ataxia • microcephaly in some - abnormally small head, poor head growth • some forms of spasticity • spasmodic movements of hand or facial muscles • dystonia • grinding of teeth

  10. Life Expactancy • Males: it is uncommon for a male to survive past birth, if they do they usually die before two years old. • Females: can live up to 40 years old.

  11. Treatments • There is no cure for Rett syndrome. • Treatments include: Managing gastrointestinal and nurtrition issues • Monitering scoliosis • Increasing communication skills • Parent counseling • Social medications • Sleep aids • Anti-psychotics • Therapy (occupational, speech and phsical)

  12. Studies show.. • Although there is no cure yet, they have found that restoring MECP2 function, it may lead to a cure. • IGF-1 has been used in mutant mice and has shown to partially reverse symptoms.

  13. PERSONAL

  14. Everyday life • What it is like: • Most have no verbal skills, making socializing very difficult. • It is obviously a much harder life than regular people, and they face the criticism of society as well. • Sometimes they don’t have the ability to walk.

  15. Quality of life • Although females with the disease can live up to 40 years old, there are a large portion of deaths that are abrupt. • It is overall, not a very high quality life style.

  16. Limitations • Inability to speak • Inability to walk • Inability to socialize

  17. Organizations • International Rett Syndrome Foundation • Rett Syndrome Association UK • Rett Syndrome Research Foundatoin

  18. Possible Cures • There is a ton of research that goes on for Rett syndrome, so it is very possible they will find the cure for it, if there is one. There are a lot of people working on it, and a lot of progress has been made already.

  19. Resources • www.wikipedia.com • www.google.come • http://www.serett.org/gallery2/main.php?g2_view=core.DownloadItem&g2_itemId=46&g2_serialNumber=2 • www.nlm.nih.gov/medlineplus/images/dna.jpg • http://www.ninds.nih.gov/disorders/rett/detail_rett.htm

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