Adult-onset Muscular Dystrophy

Has anyone on the forume here receiveved a diagnosis of Muscular Dystrophy as an adult?  

Most of the time dystrophies are diagnosed in newborns or very young children, but it can also show up as an adult.  

I would be interested in seeing if any one else who is posting or just reading the posts here has this condition or knows someone who has this condition.  I have some chromosone abnormalities that are pointing to in that direction and so that is what has me interested in learning more about it.  

Thanks.

Sarahsmom

[eureka254]

There are several types of muscular dystrophies, and though many of them are apparent when individuals are young, there are also types that are diagnosed later in adults (one example is myotonic dystrophy). There are also x-linked muscular dystrophies that may be considered in light of your chromosomal mosaicism.  However, keep in mind that there are also conditions that may manifest with symptoms similar to muscular dystrophy but are not actually muscular dystrophy.  Hope that helps, and best of luck to you. ~eureka

[CKennedy]

I was diagnosed in 05 with Myotonic Muscular Dystrophy Type I. It was a long journey gettting to the diagnosis. I am 29 now and have a long road ahead of me. I'll gladly answer any questions you have.

[suzie4101968]

I was diagnosed with md 5 years ago i am now 43 i am finding it difficult in some day to day things but am fighting it as much as possible ,i am the youngest of 4 and 2 other siblings have also got md,i will help to answer any questions if i can,just keep moving i think i know it can get hard but my quote is if you dont use it youll lose it so i take walks and do exercises  daily...hope i have been of some help ,hope to hear back from you..

[tschock]

My younger brother was diagnosed with Facioscapulohumeral Muscular Dystrophy as an adult.
He has it, and I carry it...hence my four sons could possibly inherit this.

I see Genetic counselors on a regular basis, as they are not convinced that this is what my brother has. I have shown many signs myself, and I have an appointment in October for further testing.
The genetics deptartment at the U of A would love to have my brother come in for more testing, but he insists that if it's something worse he would not care to know. We have tried in vain to get him to go...in order to possibly help my sons when/if they start to develop like symptoms...but he won't.
I think part of his fear stems from the first time they cut his leg open to obtain a sample...it left quite a big scar and took a very long time to heal...which is not totally normal they told us.
The head Geneticist here thinks that it's a far more rare form, and there is only one other family in the world ( that's been tested and documented ) that has the same symptoms that our family is showing. There could be many others that have not been tested of
course.
I underwent some serious testing when I was pregnant with my last son. I was over 40 when I had him...so they ran the typical tests...and some "not so typical" ones.
At the time of my pregnancy they found quite a few abnormalities in quite a few genes and chromasomes. They told me to expect a Down's Syndrome baby...quite frightening.

Thankful to say that he is happy, healthy, albeit very "busy" little boy.

My second oldest has a broken chromasome X...yet the only problems he's faced so far are: a wide spread between his big toes and the rest, and some shoulder pains/weakness.
He also cannot spell. He can read just fine, but just can't seem to make the pencil in his hand work with his brain.
That was sort of "off topic" but the geneticists are taking all of that into consideration as well...so thought it might be of some "importance". lol

I'm hoping that in October they will have a better understanding of what it is that my family is "carrying".

[Sarahsmom46]

Thank you for sharing your story.  I was subsequently diagnosed with Turner's Syndrom (syndrome) Mosaicism based on the final results of my DNA testing they did on my chromosones.  I am relieved it wasn't an MD, but it does mean my additional diagnosis of MS isn't going away.  

Your story is quite compelling and is very similar to a friend I have who has a yet undiagnosed  immunodeficiency disorder.  She also happens to be from Canad, Newfoundland.  She has been very fortunate to life way longer than any doctor predicted now in her 30s and also had a brother with this same immunodeficiency.  She was invited to come to the US, NIH in Maryland since her case was so interesting and unkown.  They wanted her brother to come too and he kept finding one reason or another for not making the trip even though it would be at no cost to him.  I'm sorry to say that he passed away at age 40 before even a drop of blood was taken that may have helped them figure out what was going on in this family.  I don't know what more they could have done, like you and your family has tried to do, to get the person to agree to more testing.  It is heartbreaking to know that he can maybe help but has chosen for his own reasons not to.  It is his right, but still hard to imagine why this was the decision.  

As for me, my kids were all checked and none even carriers so their children will not be affected by this abnormality.  I am truly thankful about this.  I hope you gets some answers in October.  You all will definitely benefit from finding answers.

If you haven't heard of the "Undiagnosed Diseases" program at the NIH in US and are interested, you can google it or the Director of the program William Gahl.  I am a patient of Dr. Gahl and think the world of him and his teams passion in trying to help patients in your situation.  You all have good centers in Canada, but this is another option you might want to look into.  I am sure they would be very interested in your famlily.  

Take good care and thanks again for your comments.

Sarahsmom

[tschock]

Might be a good idea.
Was re-reading some of my older results from 2005 today...confusing and amusing at the same time.  Was kind of funny to see doctors being stumped.

At one point the one doctor is saying that he thinks I may have had some sort of stroke...but some of the symptoms aren't linked with that.
Then the other doctor figured it was MD but he's not too sure because I pee every 5 minutes. lol

They start talking about my cholestrol, GERD, IBS, asthma, heart murmur, and all of the operations I have had in the past.
Doc #1 goes on to say that the family history is extremely interesting.
Doc#2 states that the whole family seems to have weakness.
Doc#1 says that I had a Trendelenburg's gait, and that I was unable to tandem walk.
Doc#2 said that my genetic results were somewhat confusing. My one son and I both have an abnormal chromosome 16.
Doc#1 said that I have some particularily bothersome proximal pelvic muscle and hip musculature, and that he is quite bothered by my examination.
Doc#2 noted that I had no specific sensory level.  ( whatever that's supposed to mean lol)
Doc#1 is extremely bothered by the fact that I have hyperactive reflexes, especially in the lower extremities and that I have at least one up going toe.

With Muscular Dystrophy you would hardly expect to find abnormal reflexes...so this makes them even more confused...me too.

Doc #1 goes on to say: Abnormal reflexes, particularly hyperreflexic reflexes obviously suggest more of an upper motor neuron condition, perhaps something like demyelination.
However, it is noteworthy that there are genetic conditions where patients can, for example, develop weakness in the lower extremities with spasticity. An example would be familial spastic hemiparesis.

In 2007 my family doctor said that my brother does have Facio and that I have a different one altogether...still to be determined.

So...that still leaves me nowhere. lol
The genetics staff has been very helpful, but they still can't piece it all together...which is perhaps my fault as I'm claustrophobic and have so far refused MRI.
The noise from the machines also makes me go insane...I have Menniere's Disease so the buzzing makes my ears feel like they are about to explode.
They said that they would give me a mild sedative but...have had that sedative before and I never want to have it again. It was the worst feeling in the world...kept me calm on the outside but inside I was screaming my head off trying to get out of my own body.
I'm allergic to the dye they use when they do "inner" testing so that is out as well.
My only hope is for my brother or one of my sons to have the testing done...but like I said, my brother doesn't want any more testing.
I believe that he's afraid that the results will come back as a lesser problem than what he was originally diagnosed with ( the facio) and that he will be cut off from government disability...always comes back to the money doesn't it?

Hopefully they'll have some sort of new testing when I go back in October.

[Sarahsmom46]

You are definitely the interesting patient.  I've also been told that I'm not a boring patient.  I don't know whether to take that as a compliment (doctor's like interesting patients) or that they are stumped and that's all they can come up with.

From what you are describing, this sounds a lot like MS.  Did you make it through a brain MRI?  I don't like MRIs either. I have had so many of them that I fight like mad when it is suggested that I have to go back in there.  Forget the sedative.  If they want me to go in, I want to be out cold.

Have they ever mentioned MS to you?  I think the only other test they could do is an LP which makes an MRI look like a walk in the park.   As for your brother, I can understand  his concern about a lesser diagnosis.  That is a valid concern for sure.

I am on the MS forum here as well.  We had one of our members get diagnosed with familial spastic paraplegia which really looks a lot like MS.  I don't know much about it, but it looks like one of those hard diseases to diagnose correctly and then treat.  I hope that this is not what you have.  

Wishing you good luck in October. It is not that far off of a wait.  

[tschock]

Yes, they tried to convince me that it was MS for quite some time...however, one specialist pointed out to my ( then ) doctor, that there were so many indications to MD and that some of the symptoms didn't jive with MS...so who knows.

Nope...never made it in for the MRI...they'll have to knock me out cold...which they can't do to get an accurate reading they say...so poop on them.

One doc said fibromyalgia, because of the pressure points on my body that induce severe pain when touched...but most of them claim it's some form of MD.

Of course, there's those that claim it's all anxiety related because I had been diagnosed with anxiety when my ex husband had had a gambling problem...which was around the same time...13 years ago...but the anxiety left when the gambling stopped and we could pay our bills.  The symptoms continued.

All I know is that I've been waking up in the middle of the night recently due to severe pains in the muscle between my neck and shoulder, I can't hold my arms above my head ( let alone hold or lift anything ) for more than a few seconds, can't walk downstairs some days because my legs give out, my neck is in constant pain ( causing headaches ) and the chiropractor told me to save my money cause there's nothing he can do for me anymore. lol

Did I mention that I have an indent, the size of a nickel, in a muscle/tendon ( whatever that thing is ) that runs along my shoulder?  It's like something or someone bit a chunk out of me.
Thanks for the best wishes, appreciate it.

[Sarahsmom46]

I would like to continue our disucssion offline if you don't mind.  I'm sending you a PM.