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International Myotonic Dystrophy Organization > Forums > Is it possible to only 'carry' the gene?
 
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Hazel78

Registered: 11/06/09
Posts: 1

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    11/06/09 at 02:35 PMReply with quote#1
I have been trying to find out if it is possible to only 'carry' the defective gene for myotonic dystrophy and not actually have the condition?  Reason I ask, is that my father had MD, being diagnosed age 30.  I am aware that symptoms become more severe from generation to generation, due to the expansion of the defective gene.  I am one of 3 children, and both myself and my brother have had the genetic test for MD, and do not have the condition, however, my other brother has never been tested.  He is now age 33, and I suspect if he did have MD the symptoms would have appeared by now.  However, he has a son, and I worry if there is a possibility MD could still be passed on?
dmchat

Super Member
Registered: 05/01/07
Posts: 71

    11/12/09 at 06:43 AMReply with quote#2
This is not the full answer I think you are looking for:

When the faulty gene is passed on by a man it doesn't always expand, and if it does expand it generally doesn't expand by large numbers. The only sure way to find out is by having the genetic test.

I know some people with DM1 and the only thing they have was cataracts.


Hope this helps a little
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Simon
Pumpman

Senior Member
Registered: 04/01/06
Posts: 17

    11/30/09 at 09:29 PMReply with quote#3
Did the son have any symptoms of DM? TO be sure your brother should be tested for DM. Each child has a 50% chance of having the disease if the parent has it. Your brother should consider testing to eliminate any doubt if that is what he chooses.

Richard
debs

Junior Member
Registered: 07/24/08
Posts: 3

    01/06/10 at 09:59 AMReply with quote#4
Hi My husband has Myotonic Dystrophy although idon't know if it is one or two type. It was passed on from his father although he showed no obvious symptoms and his problems were put dow to old age. My husband didn't show obvios symptoms till he was about 35 years when his gate was affected, by 39 he was falling asleep all the time and had several falls, he is now in a wheel chair although can stand with difficulty. his sister died at age 37 undiagnosed, but we are convinced that she too had MD and didn't show symptoms till shortly before she died. It would be best if your brother was tested

Regards
nlr1977

Senior Member
Registered: 08/28/07
Posts: 16

    07/20/10 at 05:03 PMReply with quote#5
There is no such thing a s a carrier... you either have it or you don't.
Every body has CTG repeats on their DNA. Non affected people whave CTG repeats betweek 5 -35. They are stabel repeats. Each person has 2 sets of CTG repeats in their DNA.
Anything above this is unstable.
For example you have a male with repeats 12 and 28, and a female with repeats 8 and 17. When they conceive a child each will pass on a set of repeats.
For example the Dad passes on his 12 repeat and the mother passes on her 17 repeat. The child will have repeats of 12 and 17.
For the FATHER TO PASS IT ON
A Male with MMD ~ they will have one stable repeat like 18 and an unstable repeat such as 56. If they have a child with a female with normal repeats, eg. 12 and 25.
It the mother passes on her 25 repeat with the Father's 12 repeats, the child is unaffected. But if the father passes on the unstable repeat of 56, it may mulitpy, as did in my case... to 133.
This child will be born with a repeat of 133 from the fater and a repeat of 25 from the mother.
Now if this child is a boy, the case will be the same. Their repeats will be 25 and 133. When they have a child, they may pass on the normal repeat or the unstable repeat. However, it is not know for the fathers repeat to multiply greatly, eg, the 133 repeat, may decrease.
If the child born is a female, this is where Congenital Myotonic Dystrophy can occur.
FOR the MOTHER TO PASS IT ON
In my case I passed on my unstable repeat of 133 and my husband passed on his repeat of 12 to our son. My son was born with repeats of 12 and 1033. My repeat multiplied by 10 and my son was born with Congenital Myotonic Dystrophy, meaning it was seen at birth.
He had trouble breathing, swallowing, sucking and was very floppy.
I had no signs of this and wuld probably never have know I had it if it hadn't been for my son.
My first child doesn't have it.
Affected Parents
Some parednt only ever have a stiffness in thier hands or cataracts.
There is no 2 people the same. Some have high repeats and some have low repeats.
Generally, the Adult onset will occur sometime during adulthood. But this isn't a rule.
My son has repeats of 1033, he is 4 and is still not walking , talking, feding himself, but is making great progress with all these areas. Friend I have me have children with 1500 repeats, who were slighly delayed in all areas, but are walking, talking, eating and toilet trained at 2 years old.
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