Hello my name is Karen I'm from Sheffield in England and after reading most of your posts I think that maybe I have a form of Myotonia I have now booked an appointment with my GP to get this checked out.

I can't tell you how relieved I am to read some of your posts and to see that there are other people who have the same symptoms as I do I thought I was going mad my symptoms have got progressively worse since turning 40 I have always been clumsy and falling down was normal to me and somewhat of a joke amongst my family and friends, people said it was because I didn't 'pick my feet up' etc my 'stiffness' is worse in public I feel like people are watching me because of the way I walk (I have to be touching something or my legs freeze without warning) this has happened crossing roads, using escalators, going upstairs and down, and have been accused many times of being intoxicated, I do find I'm much worse when feeling anxious and I'm now on medication (Propranolol 80mg twice a day) to stop panic attacks which helps a little, but what has helped more is finding this site. I just wanted to say a big thankyou for making me feel like I'm not alone and more normal, I was not aware of this condition, Karen

Type of Myotonia: ?

Country: UK

Karen,

I'm so glad you found the forum. Many of us were not diagnosed as children and it made for some difficult years trying to figure out what was wrong. It sounds like you might have Becker's recessive MC which is even harder because often there are no other family members with the condition.

If you can get a referral to the National Centre for Neuromuscular Disease in London, Professor Michael Hanna is a expert on myotonic disorders. Many people on the forum have seen him.

It's unfortunate that doctors try to convince us that we just have an anxiety disorder (mine did for years). Of course the anticipation of falling or seizing up makes us much worse because of the effect of adrenaline on the chloride ion channel. I learned biofeedback techniques to control my panic responses, but sometimes things happen so quickly you can't compensate (like tripping or someone honking their horn when you're crossing a street).

I hope you finally get to solve your mystery - we all know what it's like!

Jan

Type of Myotonia: Thomsen's

Country: USA

Hi Karen:

When you go in to see the doctor, make sure they do a test called an EMG. This is where they insert a needle into your muscles and can see and listen to the signal. Normal muscles should be silent but in people with disorders causing myotonia, myotonic discharges are often seen.

I say often because on occasion, the muscles of someone with a myotonia causing disorder can be silent, especially if the person doesn't have symptoms that day. Though sometimes when we have no symptom, and EMG will still pick up myotonia.

Be sure they test multiple muscles, and that they do this before they have you do any movements. If they don't find anything, have them cool your muscles and do the test again. Be adamant about this.

If they do find true myotonia, the type can be definitively distinguished with a DNA test. The most common disorders that cause myotonia are:

1. Myotonic Muscular Dystrophy, of which there are two types, type I, and the more mild type II.

2. Myotonia Congenita, which is a chloride channel myotonia and comes in two primary forms which are, the dominant form, also called Thomsens's Disease, the the recessive form, also called Becker Myotonia Congenita, or generalized myotonia congenita.

3. Paramyotonia and Potassium Aggravated/Acetazolamide Responsive Myotonia, which are sodium channel myotonias.

And last, some forms of periodic paralysis, which are also usually on the human skeletal muscle sodium channel.

Another disorder that causes true myotonia is Andersen-Tawil syndrome but that usually involves deformities as well.

There are a few other disorders that cause myotonia like symptoms or symptoms that can be confused with myotonia, for example, thyroid problems, Issac's Syndrome/Neuromyotonia, Stiff Person Syndrome, Brody Myopathy (thought to be very rare), and then we hear from people who have what appears to be myotonia but who's genetic tests don't turn anything up.

Type of Myotonia: Becker

Country: USA