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Which type have I got

Hi all,

This may sound a bit strange but I was told that I had a mild form of myotonia back in 2006. I was not aware that it had different variations until I started searching the net a few days ago.

A bit of background;
I first noticed that something was wrong when I played an inter departmental softball game (funny how I've heard that a lot) and fell over when went to try and get first base. I struggled to get up and after being laughed at a lot I eventually got up only to do it again when I was next at bat.

I was 39 at the time and it was the first instance of anything like that at the time. I was always sporty and active, playing soccer 2-3 times in one weekend and had not had any problems at all.

I then started getting the stiff leg problem when getting up and after going to have the diver bomber test was put on Carbamazapine (Tegretol), which I have been taking ever since.

I've noticed that some of the symptoms have started to resurface after being pretty dormant for the last 6/7 years.

I am going to see the doctor tomorrow to get some answers but was hoping to get some insight from fellow sufferers.

Type of Myotonia: Unknown

Country: England

Re: Which type have I got

Becker MC, the recessive form of myotonia congenita, seems to affect the legs more. While it has high phenotype variability, and the manifestation of symptoms probably depend on many different variables, I've never heard of it on setting so late in life, but I guess it's not impossible.

If I were that doctor though I might have been a little suspicious and tested you for thyroid problems or neuromyotonia.

If it's determined that your myotonia is a "pure" myotonia, then genetic testing is the gold standard to determine the type.

Type of Myotonia: Becker

Country: USA

Re: Which type have I got

Hi Jenna thanks for the reply.

Having looked it up, your prognosis of neuromyotonia seems to fit with my symptoms, especially as the onset ages seems to fit and no-one else in my family is known to have any form of Myotonia.

I have been tested for thyroid problems, (slighty overactive), but they were never suggested to me that they may be the problem.

I'm guessing the EMG test which gave the 'Dive Bomber' result lends itself to the problem being Myotonic.

Like I said I'll be visiting the doctor today, so will hopefully get some more information.

Again thanks for the reply & I'll let you know what I come back with.

Type of Myotonia: Unknown

Country: England

Re: Which type have I got

Just come back from the doctors and they have to look at my paper records to let me know the type of Myotonia, it's not available on their electronic records. Hopefully know on Monday.

I don't think it's neuromyotonia, as apparently that does not fit with the 'Dive Bomber' EMG I had.

Trying to get a self prognosis via the internet sends you round in circles.

Type of Myotonia: Unknown

Country: England

Re: Which type have I got

James:

Apparently there are some differences between how "pure" myotonia and neuromyotonia appear and sound on an EMG and I'm not very familiar with them. I had been under the impression that some doctors might have trouble distinguishing the differences, but as I said, the gold standard when "pure" myotonia is suspected is genetic testing. With Becker myotonia congenita, the recessive from of the disorder, you usually wouldn't have a family history unless you live in a very genetically isolated area where people have been marrying cousins for a while. I don't think that's a problem in England :-)

Additionally, sometimes the dominant form of myotonia congenita and sodium channel myotonias has whats called "low penetrance", meaning the symptoms are so mild in some individuals that it's not apparent they have it.

Type of Myotonia: Becker

Country: USA