Genetic Counselor Sarah Wilson

Florence 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

Kearns- 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. 

Symptoms: 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

Possible 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.

Recommendation 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.

Ethical Problems If you test your children and find deletions in the mitochondrial DNA, insurance companies may deny them of insurance.

Citation http://www.ninds.nih.gov/disorders/kearns_sayre/kearns_s ayre.htm http://www.disabled-world.com/health/neurology/kearns- sayre.php http://ghr.nlm.nih.gov/condition/kearns-sayre-syndrome