Saw my meuro Tuesday. I do not have MS. :) The test for Issac's was normal. I asked her if she thought that still may be what I have and she said she didn't know. All she knows is I have a very severe form of myotonia (that does not get better with or without exercise) but does not know what is causing it. She did not remove the diagnosis of myatonia congenita even though the dna test said I don't have it which is good because I can still go to the MDA clinic. She did say I have a lot of arthritis and degenerative disk disese in my spine and feels that is what is causing my neurological issues that have gotton much worse in the past 8 months. I will be starting PT soon in hopes it will loosen up my spine. Right now I am on 500 mgs of mexeletine and 40 mgs of baclofen per day. This has helped with the constant stiffness as long as I take it faithfully and on time. This is also helping me get a more restfull sleep. Thank you Jesus!!! I actually slept through the night last night and even dreamed. Haven't done that in a long while. She gave me zoloft for the anxiety. You would think with all of these meds I would be a walking zombi. So I guess I am going to wait and see what happens over the next 4 months. If she can get some of my symptoms under control I will not worry so much about a diagnosis. I'm just greatful for what she has done thus far.
Teresa

Type of Myotonia: still unknown

Country: USA

Wow, you definitely have a mystery diagnosis in the works! At least you have a doctor who is willing to keep working on finding and answer and in the meantime give you some relief. I'm so glad the MS was negative!

Have you ever been tested for lyme disease? I had a friend who had a MS diagnosis for years, but when they did the spinal tap it was actually lyme causing the symptoms.

One other thing I don't think I have mentioned in a while is Pompe Disease. My doctor had been to a seminar last year where they talked about it possibly being confused with myotonia congenita because of the myotonic discharges on an EMG, but the DNA tests would come back negative. It's also covered by the MDA. It's caused by an enzyme deficiency and fortunately they do have a treatment for it. The symptoms can show up in infancy or as late as your 60s. It might be worth checking.

Jan

Type of Myotonia: Thomsen's

Country: USA

No to all those questions but I will be looking into lyme and pompe. Thanks Jan!

Type of Myotonia: still unknown

Country: USA

Teresa:

You might be a case for Dr. Tawil or Dr. Ptáĉek. They have done research in novel forms of myotonia.

Type of Myotonia: Becker

Country: USA