Human genetics webquest alex henson
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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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RETT SYNDROME

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Human genetics webquest alex henson

Human Genetics Webquest

Alex Henson

RETT SYNDROME


Medical

MEDICAL


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.


Personal

PERSONAL


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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