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