It's good to get a confirmed diagnosis just so doctors and anesthesiologists will take it seriously if you need surgery or emergency medical treatment, but if it's not affecting your quality of life (you don't need medication) and your children seem fine, then it's just a matter of what you feel most comfortable doing.

If your children do show some signs of stiffness then you may want to get a DNA test just to confirm the type of myotonia. Often that doesn't happen until the age of 8-12.

Have you had an EMG that showed myotonic discharges? If so then the only other testing you would need is a blood draw for a DNA test. You can get it free through Dr. Lehmann-Horn's lab in Germany. Just join the Periodic Paralysis Association (PeriodicParalysis.org) for free, and click on genetic testing to get the required paperwork for your doctor to sign. All you pay is the cost of shipping to Germany. It will take several months to get the results vs weeks if you have it done in the US, but you can't beat free.

Jan

Type of Myotonia: Thomsen's

Country: US

Bob:

There's always a chance you could have something other than MC, as myotonia can be a symptom of a few different disorders, and knowing which one you have could better help you manage your symptoms. Also, as Jan said, the doctors will take you more seriously. Before I had the genetic testing, thought I had EMG confirmed myotonia, not knowing the exact type could occasionally produce some frustration at the doctors office, because there was always the question of, is this symptom I'm here for today related to my undetermined myotonic condition or is it something else entirely?

Also, I have heard from a number of people with myotonia causing conditions, who have experienced more difficulty in coping with their disorder with age, even if the severity of the disorder hasn't actually increased, and have found that they are no longer able to work. It is much easier to get disability benefits if you have long term documentation of your disorder.

Type of Myotonia: Becker

Country: USA