For the most part, I can somehow get through life, working and such, although everything I do is slower and more labored. Since my 20's, I've been going through periods where my weakness and imbalance are unbearable. Does anyone else go through these periods? I'm not talking about the rigid muscles, etc., I've been dealing with those all my life, obviously. I'm talking about periods where you have no strength whatsoever and your balance is non-existent. I've talked to my neurologist who wants me to go to PT, but I keep trying to tell him that it's not always like that. But when it does get like that, I have several weeks of living my worst nightmare. Plus, I have to take public transportation which makes it that much worse. There have been other things changing lately, as well.

Type of Myotonia: Thomsen\\\'s

Country: USA

Rolma, your symptoms sound so much more like paramyotonia than Thomsen's. I can't remember if you had the DNA testing, but if not, I would ask for it. The long periods of weakness are very common with PMC. It is much more affected by potassium, cold and exercise, and does tend to be more of a progressive condition.

There are some drugs specifically for the SCN4A mutations that are not usually prescribed for myotonia congenita. That's why I feel it's important to get the differential testing.

If you have had testing and you know for sure it's just Thomsen's, then I would go to a rheumatologist or another neurologist and start looking for a separate cause for the weakness and balance issues (possibly an autoimmune disease). If the symptoms seemed to get worse suddenly at a specific point in time, then I would even check with an infectious disease specialist or ask your doctor to test you for lyme.

I've known hundreds of people with myotonia congenita, and by itself you just don't see those types of issues. But we are just as susceptible to other acquired conditions as anyone else so we have to be sure the doctors aren't just blaming everything on MC when we could be getting treatment for a separate problem.

This information sheet from the HKPP.org discusses the symptoms of the various types of paramyotonia which include long periods of weakness.

Paramyotonia Congenita

I hate for you to keep suffering when there might be a very helpful treatment. This is one of the drugs that was recently approved for compassionate use for periodic paralysis (which includes PMC):

Daranide

It has helped people tremendously who have had severe periodic paralysis including weakness, difficulty breathing, etc.

Jan

Type of Myotonia: Thomsen's

Country: US

Thanks for the info, Jan. Do you know how to get DNA testing done and whether or not insurances cover it?

Type of Myotonia: ????

Country: USA

The first step would be to ask your doctor for a referral to a geneticist. They can order the testing and work with the insurance company for pre-authorization. They are usually affiliated with a hospital or university medical school and often are in pediatrics or neonatology departments. Some hospitals have an adult genetics clinic.

There are two labs that do the testing in the US. They are Fullerton Genetics with Mission Hospital in Asheville, NC, and Athena Diagnostics in Massachusetts. Both can sequence the CLCN1 and SCN4A genes to determine the type of myotonia you have. If you an only get one covered, I would go for the SCN4A. You can call the billing departments for the labs and ask about your insurance. Your doctor can order the testing directly, but most won't.

MDA clinics used to pay for the testing, but they had a lot of funding cuts so it's up to the individual clinics if they will cover what your insurance won't pay.

In your case I think it's very important because your symptoms are atypical for myotonia congenita and you may not be getting the most effective treatment.

Jan

Type of Myotonia: Thomsen's

Country: US

Thanks so much, Jan. I figured if anyone would know about all of this, it would be you. :)

Type of Myotonia: ????

Country: USA

Hi Rolma

one of my daughter and I have recently been confirmed as having Myotonia Congenita and my daughter also has hyperkalaemic periodic paralysis.
Over the past two years one of my sons has had problems with imbalance which results in him having lack of concentration... when he concentrates on e.g. reading, for a few minutes he gets headaches which get worse and cause him to feel ill and sick. his imbalance is currently being helped with taking Cinarazine. for the first year the problems would last between 1 and 3 weeks every couple of months but he has had them continually since October 2013. He had the genetic blood test on Tuesday and so have to wait 2 months for the results.... the reason they have done the test is because he recently had an EMG which showed the same result as his sister.
Now, my writing to you is to ask, is the imbalance a known symptom of Myotonia Congenita because our consultant said he hasn't seen / heard of any cases that he has dealt with / read about that includes this symptom; although he's not ruling it out because it's an extremely rare condition and he hasn't seen many cases. Having read your thread I thought you may be able to help.
I look forward to your response
Pam

Type of Myotonia: Myotonia congenita

Country: UK