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RETT SYNDROME

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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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how does a person inherit it is it dominant or recessive
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.
what are the possible genotypes of the parents
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.
how prevalent is this disease
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.
what are the chances of passing on this disease
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
how is rett syndrome diagnosed
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.
symptoms
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
symptoms continued
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
life expactancy
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.
treatments
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)
studies show
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.
everyday life
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.
quality of life
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.
limitations
Limitations
  • Inability to speak
  • Inability to walk
  • Inability to socialize
organizations
Organizations
  • International Rett Syndrome Foundation
  • Rett Syndrome Association UK
  • Rett Syndrome Research Foundatoin
possible cures
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.
resources
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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