josiejacob
Junior Member
Registered: 10/19/09
Posts: 2
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Reply with quote | #1 |
Hi. I am a 35 yr old female who was diagnosed with a "myotonic disorder" about 2 yrs ago after a diagnostic EMG. I went to the neurologist due to c/o weakness, muscle pain and twitching, and swallowing difficulties. I was sent to a specialist who did an EMG which did not show anything so he said that I was fine and sent me on my merry way. My previous nuerologist repeated the EMG which he said definitely showed myotonia in all muscle groups tested. Well, needless to say, I continue with the all of the above symptoms and the weakness in my arms has gotten worse (especially after doing anything strenous) as well as walking up stairs has become quite a struggle at times. I have been dx with GERD, TMJ, IBS, Atrial Tachycardia, and have had complete hysterectomy due to a prolapsed uterus and endometriosis. I do not have a firmative dx and not even sure if I want one but I have 2 children which have shown some signs of the disease and would want to do what is best for them.
I guess I just need some advice on what to do ... thanks for listening.
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sauerpower
Registered: 07/25/09
Posts: 1
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godoggo3
Super Member
Registered: 08/31/07
Posts: 43
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Reply with quote | #3 |
Did the neurologist rule out Myotonic Dystrophy? This is a genetic test to rule out this disease. This would make a definitive diagnosis. There are a lot of types of myotonia but we are just covering myotonic dystrophy in these forums.
Richard
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This is a disease that will be conquered one day!! |
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josiejacob
Junior Member
Registered: 10/19/09
Posts: 2
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Reply with quote | #4 |
No, I have never had the genetic test. I had some lab work to rule out some other types of myotonic disorders but never the DNA test. I did ask him about the dystrophy form and he said for me " not to worry about it and just go on with life" Easy for him to say, right? I have had 2 EMG's which showed myotonia in most muscle groups tested. I do not have grip myotonia unless I am outside in the cold weather. |
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RPittsley
Super Member
Registered: 07/03/08
Posts: 26
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Reply with quote | #5 |
If you live in the US, I would suggest finding your nearest MDA clinic and setting up an appointment with a neurologist there. They are usually attached to teaching universities.
If you test positive, I would also have your children tested. I was diagnosed at age 34 with MMD1. Eventually I had all of my children tested. The neurologist told me, after running them through physical tests, that he did not think any of them had it. I insisted on a blood test, and it turned out that my now 11-yr-old twins had CTG counts of 385 each. That was three years ago. They have had neurological and behavior problems. Knowing the basis of "why" has been definitely helpful. In the past year their physical condition has started to deteriorate. They still do not show any myotonia, but muscle weakness is starting to accelerate. We have been able to get services through the school and social services to help them, and us, because of the Dx.
Rachelle
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