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Re: Diagnosed with Myotonia Congenita, but unsure

Hi

I suffer from Myotonia (EMG positiv) wich is not MD 1 and not MD 2 and not the Isaacs syndrom and the gentesting for SCN4A and CLCN1 was without any result.

But I have these pains, stiffness and fascicualtions, too, and my dougther and three uncles (father and grandfather side) suffer from the same.
My father, witout myotonic symptoms, hat exactly the same liver problems and gallbladder full with concrements like you, and he wore a peacemaker. But noone of us has a cataract.

My liver is cystic, but still the function is good and I have no increased CK. Did you make a sonography oder MRI?

So I'm sure that there are more types of myotonia oder myotonic dystrophies.

Stephany

Type of Myotonia: unknown

Country: Switzerland

Re: Diagnosed with Myotonia Congenita, but unsure

Stephany, do you know if your CLCN1 and SCN4A testing was full gene sequencing or only known mutations? Some labs just check for previously published mutations so if yours is unique to your family, it may not have been noted in literature yet.

Jan

Type of Myotonia: Thomsen's

Country: US

Re: Diagnosed with Myotonia Congenita, but unsure

It was only a testing for point mutations. So there could be still a deletion or duplication mutation, but my health assurence is not paying any testing anymore and in Switzerland it will cost as much as a monthly income to look exactly at the CLCN1 and SCN4A genes.

Type of Myotonia: unknown

Country: Switzerland

Re: Diagnosed with Myotonia Congenita, but unsure

I'm sorry you can't confirm the type. I have Thomsen's and my mother never had any symptoms even though her EMG was positive. It's interesting how much variation there can be even within families.

Dr. Lehmann-Horn's lab in Ulm, Germany used to do full sequencing free for members of the Periodic Paralysis Association, but he retired several months ago and they quit offering the service.

Do you have myotonia affecting your eyes, tongue, throat, diaphragm, etc? That seems to be strongly associated with dominant MC...most of the people I know with Becker's don't seem to have as much trouble with the muscles in the face.

Jan

Type of Myotonia: Thomsen's

Country: USA

Re: Diagnosed with Myotonia Congenita, but unsure

Dear Jan

I was writing to Mr. Lehmann-Horn about two years ago. He let me fill in a form of 20 pages and then diagnosed a hyperPP with Myotonia, but he was not 100% sure. He didn't offer a free testing. He send me an estimate of costs and it was too much for me to pay.

Yes, I do have problems with the diaphragma ( in the water I cant breathe at all and after coughing a lot or singing I suffer from respiratory depression) and with my eye muscles (the inner ones) and a bit with my face (masticatory muscle), but my tongue and throat are not really affected. But when I speak for a longer time, I fell a kind of pain and my voice gets raucous, so I have to stop using my voice and be quiet for a cuple of hours or a day.

My EMG was positive. It cannot be Becker because my doughter has the same.

Stephany

Type of Myotonia: unknown

Country: Switzerland

Re: Diagnosed with Myotonia Congenita, but unsure

Hi Stephany,

I hope you are able to organise a clearer diagnosis. I am still in limbo myself, waiting to see the neurologist. Fingers crossed for you and your family.

Regards,
Dave

Type of Myotonia: Unknown

Country: Australia