- Can Kennedy's Disease Carriers experience symptoms?
- I am a carrier, why do I have severe cramping and difficulty swallowing.
These type questiona are asked frequently. Researchers believe they know the answer, but since carriers are rarely studied, I am not sure we fully understand why some carriers experience far more severe symptoms and earlier onset. Below is a collection of articles on the subject. If anyone has other sources that might better explain the situation, please let me know.
X-linked dominant inheritance
In X-linked dominant inheritance, when the mother alone is the carrier of a mutated, or defective gene associated with a disease or disorder; she herself will have the disorder. Her children will inherit the disorder as follows:
- Of her daughters and sons: 50% will have the disorder, 50% will be completely unaffected. Children of either sex have an even chance of receiving either of their mother's two X chromosomes, one of which contains the defective gene in question.
When the father alone is the carrier of a defective gene associated with a disease or disorder, he too will have the disorder. His children will inherit the disorder as follows:
- Of his daughters: 100% will have the disorder, since all of his daughters will receive one copy of his single X chromosome.
- Of his sons: none will have the disorder; sons do not receive an X chromosome from their father.
- Of their daughters: 100% will have the disorder, since all of the daughters will receive a copy of their father's X chromosome.
- Of the sons: 50% will have the disorder, 50% will be completely unaffected. Sons have an equal chance of receiving either of their mother's X chromosomes.
- Read the entire article at: Wikipedia
So, what does happen when a woman has two defective 'X' chomosomes?
Ed Meyertholen provided an explanation in a KDA Forum. Click Here to read more
- This is an abstract of the study Ed mentioned. Click Here for that
- Read the entire article at: X-inactivation at Wikipedia