Florence Hines 40yearold elementary teacher Mother of five Extreme nauseated Horrible Headaches Extremely sluggish Slight droop in left eye Parents in their 70s and doing fine Kearns Sayre syndrome ID: 934962
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Slide1
Genetic Counselor
Sarah Wilson
Slide2Florence Hines
40-year-old elementary teacher
Mother of five
Extreme nauseated
Horrible Headaches
Extremely sluggish
Slight droop in left eye
Parents in their 70’s and doing fine
Slide3Kearns- Sayre syndrome
Rare
neuromuscular
disorder
Diagnosis may be confirmed with muscle biopsy, and may be supplemented
with PCR of DNA
mutations.
Effects many parts of the body, especially eyes.
Have
progressive external
ophthalmoplegia
, which is weakness or paralysis of the eye muscles that impairs eye movement and causes drooping
eyelids
They also
have an eye condition called
pigmentary
retinopathy,
breakdown
of the retina.
Slide4Symptoms: abnormalities of the electrical signals that control the heartbeat, problems with coordination and balance, or abnormally high levels of protein in the fluid that surrounds and protects the brain and spinal cord.
May also experience muscle weakness in their limbs, deafness, or kidney problems.
Caused by defects in mitochondria.
Generally not inherited
Slide5Possible Questions
Will this condition affect my children?
It could but it will not be because of inherited genes.
Are there treatments?
There are currently
no effective way to
treat mitochondria abnormalities in KSS.
Should I change something in my life style?
Exercising will strengthen you weaker muscles.
Get frequent check ups with your cardiologist and ophthalmologist.
Slide6Recommendation
Your children will not be affected by this condition because of inherited genes.
There is currently research being done on
neuromuscular
disorders.
The researchers are increasing there
understanding of these disorders, and to find ways to prevent, treat, and, ultimately, cure them.
The
most promising approach for treatment in the future will be to alter replication or destroy abnormal mitochondria
.
The closest treatment will
be to alter replication or destroy abnormal mitochondria.
Exercise can help strengthen weakened muscles.
Slide7Ethical Problems
If you test your children and find deletions in the mitochondrial DNA, insurance companies may deny them of insurance.
Slide8Citation
http://www.ninds.nih.gov/disorders/kearns_sayre/kearns_sayre.htm
http://www.disabled-world.com/health/neurology/kearns-sayre.php
http://ghr.nlm.nih.gov/condition/kearns-sayre-syndrome