My Visit with the nuerologist who actually listened/Does anyone know much about MD? Adult Onset

I posted a question about my myopathy and was very confused and found a few good people who answered and helped me and I felt better prepared for yesterdays visit.  First I would like to say I DO NOT HAVE ALS!  I do not have MS.  This doctor did another EMG test and found my muscles are damaged and he is going to do another muscle biospy and he is 80 % sure I have Adult onset MD. I was prepared to hear that.  I am okay with that.  I understand what that means and by how much it will shorten my life.  But right now he is only 80% sure so I still have a 20 % window of it being my MCTD that has been causing my muscle wasting process and my body for whatever reason just didn't respond to any of the medications.  But there are other medications out there to try if this is the case.  

Apparently there are cases of MD that are not inherited and try as I might I can't find anything online so I would appreciate anyone's help in finding a good site in reading up on it.


Also this new doctor thinks the old doctor dropped the ball about the blood clot in my brain.  Two MRI scans show a clot in my brain and the third one did not so they assumed I didn't have one and he thinks that I have one so he is calling my local hospital this morning to get me a MRI asap to check becuase he feels it could be the cause of my vision problems and my speech problems that seemed to have hit me all at once.

Again thank you for any help and insight.

[Quixotic1]

As always I think you should contact the Muscular Dystophy Association of America at mdusa.org.  I did a quick search and found a number of articles which were in "pay" services, so I couldn't read them.   They tantalizingly referenced "adult-onset MD" and "new mutations".  All the MD's I think, can appear without family history with Duchennes's abd Becker's having the highest instance of spontaeous new mutations.  But one article's abstract did contain the info that, although it is more unmcommon than the others, Adult Onset MD can appear with a spontaneous (non-inherited) mutation.  It's also called Steinert's Dystrophy.  Are we talking about the same one?

Until you get the results of the biopsy back and know the exact biochemical deficit or location of the genetic fault, then...oops!  gotta run.  finish later

[Quixotic1]

As I was rambling on.....Until you get the specifics of the type of MD no one can really predict what your course will be.  If the new mutation is exactly the one that causes the disease known as Adult-Onset Muscular Dystrophy - then you can use that as a general idea.  But all people are different.

I'm so pleased about you're NOT having ALS and about having found a great human being in a neurologist.  Just knowing to whom you can turn is an enormous gift!

When I got the diagnosis of MS, I was simultaneously prepared for it and quite shocked.  First, I had done enough reading to know that the only pathological process that fit all of my signs & symptoms  was MS, but at that time I also believed that my MRI was normal and that I was too old.  When the word did come, we were ready to have a sub-jubilant "Diagnosis Party"!  The feeling of being lost in limbo with no one able to help me was more stress than I want to remember.

A month later I was just pissed.  The depression returned, not as bad, and I felt over-whelmingly like it "wasn't fair!"  Yeah, I know that no one ever promised that life would be fair.  Then I started doubting the diagnosis and wondering if I convinced this MS Specialist that I had it.  I'm somewhere in between now.

Stick around with us here and unload if you feel a need.  The people here are wonderfully supportive and compassionate.  

Hugs, Quix