Hi, Michelle
My myotonia is not as bad as yours. But I have a "midlife onset myopathy" that is a painfully disabling weakness of certain most used muscles. This myopathy is an "ancilary condition" that affects about half of those with the SCN4a defect. Your children should be tested so they may be warned that sports may lead to disability later in life.

Please do a Google search for "utsw neuroscience cannon". The first result will be the Faculty Page for Dr. Stephen Cannon. He is the doctor nearest you that has knowledge for the treatment of Sodium Channel Muscle Diseases. There is an email address but it is better to send him a letter, the PDF of his Curiculum Vitae accessed from this Faculty Page has a more complete mailing address. Just because the Muscular Dystrophy Association supports research does not mean that any given MDA Clinic has anyone who knows anything about Sodium Channel Muscle Disease.

Send Dr. Cannon the complete defect data from the Athena report, let him know how your doctor feels about food affects and ask if he can recommend anyone nearer to you for your treatment. I expect that he will recommend that you be seen at UTSW.

By the way tofu and soy milk are products of the soy bean and are potassium heavy foods.

Type of Myotonia: SCN4a PAM

Country: NC (US)

Michelle,

It is definitely possible for you to have myotonia and your daughter to have a mitochondrial disease. I just had DNA testing done to try to determine what is going on in my family related to a metabolic disorder. It comes through my father's side of the family, and the myotonia is from my mother's.

Your mutation would be a sodium ion channel disorder. If you can email me with the exact mutation I can check it for you. I have not found Athena to be the most accurate in classifying the mutations, but I can check with a genetics database to see if it has been reported before. You might want to check Fullerton Genetics to see if they will consult with you and possibly do further testing. They're in North Carolina.

There can be a type of myotonia that shows up on EMGs in complex deficiencies, so she may not have a true genetic myotonia. Does your daughter take the mitochondrial cocktail with carnitine, CoQ10, etc? Most children's hospitals have dieticians that specialize in metabolic disorders. If she does have a sodium channel myotonia you will have to watch for too much potassium in the formula or supplements. I would not suggest Mexitil until she has been tested for the SCN4A mutation. It's a very powerful medication and could cause problems with the mitochondrial disease. Is her diagnosis based on skin biopsies?

There is a lab called Counsyl (Counsyl.com) that can test for mitochondrial disorders for only $99 or less if you have insurance. You might want to have all your children tested by them to be sure the others don't have a complex deficiency. If they have one of the mutations they could be a carrier and not have symptoms, but it would be good to know for the future. It doesn't cover myotonia. I don't know if this was the same genetic testing your daughter had that was negative. Sometimes they have to base it on the skin biopsies and lab tests instead.

Migraines are often caused by a mutation in the MTHFR gene which controls the conversion of folic acid to the active folate form. This is checked on the Counsyl test if you ask for the Universal Plus version of the testing. I have one copy and so do several of my family members so I take a folate supplement. It has cured migraines in all of us.

Another thing you might want to have your doctor check is vitamin D levels. You can develop cataracts if your levels are too low and it is also associated with nerve and muscle pain.

If you haven't already checked this group, you might want to go to HKPP.org and get on their mailing list. They cover the sodium channel mutation conditions like paramytonia congenita.

Jan

Type of Myotonia: Thomsen's

Country: USA

Hi Jan,
I appreciate for your support in this matter. I have Athena test result i can email to you maybe you can explain to me better. About Isabelle, she had fresh muscle biopsies done when she was 3 by DR SHOFFNER.yes she is on l'carnitine and q10. she is on formula bright begginings soy pediatric drink.SHE doesn't eat at all.We feed her by syringe. otherwise she will not eat at all on her own.About my other 2 kids testing. my husband to afraid to do the test.he dosn't want them to live in fear. beacause they both so active in sport.i don't know how i can digest this information about genetic disorder. i wish i know my parent and their family. the sad part i don't know anything about them.my adopted mother still denied my right.i just pray to god that my other 2 kids will be ok now and the future.i don't i can take anymore of this whole ordeal.When i look at IZZY. i feel so responsible that i am giving her the bad gene that she has to go through lives like this.I think no matter what in this lives no parent want to see their child go through pain.i will check the lab in south carolina. and my vitamin d. THANK'S AGAIN. MY HUSBAND EMAIL stevenjordan@msn.com
email me your email address i will email you my test result from Athena. michelle

Type of Myotonia: scn4a

Country: ga