Return to Website

Myotonia Congenita Forum

 

This forum has been closed for comments.  You can still search archived messages.

 

Visit  the Non-Dystrophic Myotonias  Facebook Group

Myotonia Congenita Forum
Start a New Topic 
Author
Comment
View Entire Thread
Re: Sjogren's Syndrome ?

Hi Jenna,

I tried to post a reply to your message earlier and did not see it up. Please excuse if you see more than one incase it shows up later on. Thank you for the information, I will surely look into this. I did not have a genetic test yet or anything to distinquish what type of myotonia I have. I have to wait well into November to see the specialist. They are very booked up in my area. I have had very mild symptoms of myotonia for many many years. Just some stiffness when it is cold or when I do not eat for long periods of time. I do recall one winter where I was out in the cold and was not able to catch my breath. Also, I recall a time where I was splashed with freezen cold water on a water ride at an amusment park where also I was not able to catch my breath right away where others were hit with the cold water and nothing happen to them. I am just confused with the dry eyes and mouth at times and rash along with a slight positve ANA test. Along with the bout of optic neuritis in 2005 and last year a bout of iritis in the same eye. Very very strange. It is the reason I am wondering if Lupus or something like this could cause a EMG to show myotonic symptoms ? It seems that doctors really do not know much about this problem. Thanks and have a great weekend.

Gia

Type of Myotonia: Not sure

Country: USA

Re: Sjogren's Syndrome ?

Gia:

The genetic testing should give you some definitive answers. From your symptoms, if it is indeed a true myotonia, and I had to guess, I would bet a chloride channel myotonia such as Thomsen or Becker MC, or a sub type called Myotonia Levior...you don't hear much about that last one but it's a very mild, dominant form of chloride channel myotonia congenita.

If you had a chloride channel myotonia, it would usually show up on Athena Diagnostic's test 128, the "CLCN1 DNA Sequencing Test"

If your insurance will pay for it, or you can afford it, I would ask the doctor to test for all forms of myotonia by doing the "Complete Myotonia Evaluation", test, 147, because it can save a lot of time and trouble, and some people have been found to have two different myotonia causing disorders.

As for the other symptoms, it's possible to have myotonia and an unrelated autoimmune disorder, as autoimmune disorders tend to be fairly common.

Type of Myotonia: Becker

Country: USA

Re: Sjogren's Syndrome ?

Hi

I suffer from the Sjögren Syndrom and Myotonia. My ANA is 1:350 and my eyes are absolutely dry as well as my throat and lungs. I do have stiffness, musclepain, fasciculations and symptoms of a mild periodic paralysis after activities. My EMG shows myotonic (or pseudomyotonic patterns, every doctor says something else). The muscular problems get worse with cold, hunger, stress, infections, menstruation/hormons and injuries.

My bloodresults are all ok, exept the mild increase of ANA, I dont have polymyositis, so it's not prouved that the sicca syndrom has an autoimmune cause. Many family members suffer/ed from the same problems, so it has to be a genetic defect. But up to now they didn't find the mutation, I should do a chromosomal mirco-array, but the costs are not covered.

So I'm living without diagnosis and treatment.

Stephany

Type of Myotonia: unknown

Country: Switzerland