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Genetic Home Reference: Kearns-Sayre Syndrome, Dec 2011.
http://ghr.nlm.nih.gov/condition/kearns-sayre-syndrome
National Institute of Neurological Disorders and Stroke: NINDS Kearns-Sayre Syndrome Information Page, 4 June 2012.
http://www.ninds.nih.gov/disorders/kearns_sayre/kearns_sayre.htm
I believe that if there were any real ethical or moral concerns, it would have to be with the children. Some people are against getting their children tested because technically the children have no say in whats happening or what might happen to them. Some might want the children to have their own voices heard, even though in this case, it might be too late. Also, this especially applies to this case since only the mother can pass down this unfortunate syndrome.
Orphanet: Kearns-Sayre Syndrome, July 2007.
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=480
The chart shows that the mother is a carrier and all of her children will inherit the problem because it is passed through the mitochondrial DNA but that no males children will inherit it from him.
1. Can my children inherit the problem from me?
Yes, because Kearns- Sayre Syndrome is passed through the mitochondrial DNA which only the mother passes to her children.
2. Can my children pass this on to their children?
The girls can pass it on through their mitochondrial DNA but the boys can not.
3. Is this worth testing my children for?
Yes, when and if symptoms arise.
Unfortunately, there is no treatment or cure. In fact, all the symptoms worsen which can make you die even faster. They do recommend that you try to exercise to keep your muscles strengthened. Also, you can get a pace maker to help treat your heart block.
The first option would be a spinal tap to that test the lactate and protein in the cerebrospinal fluid. If you have KSS, the levels would be elevated.
The other option would be a biopsy of your muscle tissue. This is used to check if the DNA in their mitochondria is abnormal.
Everyone dies anyways.
As on honest as it gets, its not easy. There are many problems associated with the disease that you have to overcome. Some with the disease actually admit to it being more of a psychological problem than physical problem. Although, the physical problems can become a little extreme, like eye paralysis and very weak muscles. It will be hard to do any physical activities. Some supportive services to seek would be those of a physical, speech, or respiratory therapist.
A rare neuromuscular disorder.
Slowly Progressive.
Passed by the mother through the mitochondrial DNA specifically a deletion but the environment can cause the syndrome to become active.
Life Expectancy: Kearns- Sayre Syndrome decreases life expectancy but the specific figures are unknown.
The symptoms that the patient(s) might be affected by are as followed:
Limited eye movements until they are immobile.
Eye lid droop
Muscle weakness
Heart Block
Short Stature
Hearing Loss
Limited coordination of voluntary movements.
Diabetes
Impaired cognitive function.
Infrequent seizures