inherited MMD

Hello,  My sister-in-law found out after having 3 daughters that she - and 2 of her three sisters - and 2 of her 3 daughters have myatonic muscular dystrophy.  The adults, of course, have adult onset of the disease.  They had all married, had children, then when in their 30's,  began having problems with falling, balance, etc, and after exhaustive testing discovered this inherited disease that is affecting so many in their family.  My sister-in-law, the youngest of the sisters, was the last adult to be diagnosed, after having her children.   Two of her daughters, now ages 7 and 9 years old have the congenital form.  The 7 yr old has mental handicaps as well as learning and coordination problems. The 9 year old is not as affected, but the myatonia is affecting her hands already.   The third daughter, now 5 years old, does not have MMD.  We are all realizing the devastating health problems associated with this disease.  My two-part question is this:  What are the chances that my unaffected 5 year old niece will develope the adult onset of myatonic muscular dystrophy like her mom and aunts did.......and even if she never developes the disease,  is she carrying the gene and if she some day has children,  realizing that every generation will present with worse symptoms,  is there a chance she can pass on this disease even if she does not have it?   Would genetic testing be the answer? Thani you.

[tschock]

I'm sorry for such a late response...was having computer troubles.

I am so sorry to hear this. MMD is such a devastating disease.

I'm also sorry to say that there is as 50/50 chance of your niece developing symptoms, and a 50\50 of her passing it on.

MMD is certainly a disease that runs in
families. Both types are inherited in an
autosomal dominant pattern, meaning it takes
only one flawed gene to cause symptoms of
the disease. So, if one parent has the disorder,
every child of that person has a 50 percent
chance of inheriting the gene that causes it.
If either the type 1 (chromosome 19) or the
type 2 (chromosome 3) genetic abnormality
is passed on, the child almost will certainly
develop the disease. MMD1 very often is
more severe in the child than in the parent. In
MMD2, this increase in severity between generations also occurs, but not as consistently.

My younger brother wasn't diagnosed with his Fascio  until his late teens/early twenties...by that time it was too late...I had already started having children...all boys...which means they all have a 50% chance of getting it...but they won't pass it on...or so the geneticists believe at this point in time.
My brother had a vasectomy after genetic testing...although it's only the women who pass this type down...but he didn't want to take a chance of "making someone else go through this pain".
Each type of dystrophy has it's own way of being passed...so it makes things a little more difficult when deciding what to do about the future.

I wish your family the best.
We're all in the same boat here...and we're here for each other.

[liliana41]

Hi I am 25yrs old female and my mother has muscular dystrophy and she is the only one in her family who got it, none of her grandparents,cousins,no one has ever had it and about 8yrs ago my back and neck started hurting me so badly and now 8yrs later im living with kronic back pain. So my question to whoever can help me here is this some sort of a muscular dystophy gene I got from my mother?

[tschock]

It is VERY possible. Many "diseases" are known to skip generations.

Your best bet is to mention this to your doctor and ask for a biopsy to be performed. This is the only way to know for certain.

You could also be suffering from a crooked spine, arthritis, etc and not muscular dystrophy. Only a biopsy and blood tests can tell you.

[graciamey]

hello! my husband have a muscular dystrophy and i dont have that sickness his sitting on wheelchair always since he is a baby he have that sickness but he can do walk.but on 2008 his weak and he cant do walk he start to use wheelchair until were become bf/gf until we engage and now were married we want to have a kids have posibility that he's sickness pass to our child? if one of us have muscular dystrophy our children have too?we want to have two kids and we want them to be a normal person that dont have that sickness... can you please help me to find out? thanks :)

[tschock]

Muscular Dystrophy ( in most cases ) is hereditary.

It's a 50/50 chance of your future children having it. Normally the female carries it and the male will have it, but not always.

There are several forms of MD...knowing which one he has will help to determine the chances of any future children developing it.

There is no way to say that any children you may have will inherit it.
You could have ten children...3 may develop it...or possibly none of them will.

It's just like red hair. IF you both have red hair, your child has a better chance of being born with red hair. If neither of you has red hair, then the chances are very slim that any children you have would be born with red hair...but if your great great grandfather had red hair, then there is 1% chance that the baby would have red hair.

The only  way to know for sure is to be tested by a geneticist.