Welcome, Anne!

There are many conditions that can be associated with an EMG showing myotonic discharges. If you're experiencing things like spasms, twitching and jerking, you might want to look up neuromyotonia or Isaac's Syndrome, Stiffperson Syndrome and Myokymia.

If you do have MC, then you probably would have had symptoms of stiffness from a young age. For instance when you get up out of a chair and try to walk right away your legs lock up for several seconds. Or if you grip something hard it is difficult to let go for a few seconds.

The swelling and edema are not related to MC and usually muscles recover well after surgery. Fructose malabsorption is usually associated with irritable bowel syndrome - fructose is not absorbed properly in the intestines and it ferments and causes gas, diarrhea, etc. You also might want to get checked for celiac disease. That can be at the root of many autoimmune disorders and will set you up for IBS, Crohn's, etc.

Another thing you might want to check is mitochondrial diseases (some are also called metabolic myopathies - umdf.org is a good site to check some of these). There is one in particular, Pompe Disease, that can have myotonic discharges on an EMG. It is also called acid maltase deficiency.

If you are reacting to meds, then it's very likely either you have some sort of mitochondrial disorder alone or in combination with MC. Often there are deficient enzymes to process medications that go through the cytochrome P450 pathway. That is why I don't use medications for myotonia.

Hopefully you can get DNA results soon. If you can't get tested in Australia you can join the Periodic Paralysis Association for free (PeriodicParalysis.org) and get free DNA testing through a lab in Germany. It takes several months, but they also look for unusual types of ion channel disorders.

Feel free to ask any questions -

Jan

Type of Myotonia: Thomsen's

Country: USA

Thank you Jan. With the EMG as soon as Dr put probe in before he moved it the sounds started registering so he called everyone in to listen. Originally when I was 17 I was diagnosed with McArdles Disease (Glycogen Storage 5)through muscle biopsy. Because I no longer have results Dr has disregarded the diagnosis. When younger I did have stiffness in the legs & they would lock up and then release. As a child I had a lot of leg pain and Dr put it down to growing pains. I have been diagnosed with Crohn's/Colitis and IBS.

Type of Myotonia: Unknown

Country: Australia

That's very interesting about the muscle biopsy. Do you think there's any way you can get the original results? I can't believe the doctor would disregard the biopsy!

There was a paper several years ago about a correlation between McArdle's and myotonia congenita. We have deteriorating or absent Type IIB fibers in our muscles, and those are the fibers that contain high amounts of myophosphorylase which is deficient in McArdle's. So perhaps that is the connection.

Since you already have an autoimmune condition, I would definitely get checked for celiac if you haven't already. They can start with blood tests, but an intestinal biopsy is the standard. Isaac's Syndrome is also an autoimmune disorder caused by antibodies to potassium ion channels and can cause some of the symptoms you mentioned. I have seen many autoimmune disorders, even serious ones like lupus, disappear with a gluten-free diet. But you have to do it 100%, not even a crumb with gluten grains on your food. It's being diagnosed so frequently now in the US that we have whole sections in the grocery stores devoted to gluten-free foods.

Jan

Type of Myotonia: Thomsen's

Country: USA

I have tried to get the results of the biopsy but that was 36 yrs ago. I even tried my childhood Dr to no avail. Some symptoms are similar to both McArdles & Myotonia Congenita.

Last year I had a biopsy for celiac, came back negative but as GP said I was following GF diet.I have been going to a dietician to sort out health issues so presently it feels like there is very little I can eat as I need to be dairy free also.

Thank you Jan

Type of Myotonia: Unknown

Country: Australia

Anne,

We have so many great resources now for gluten-free/dairy-free products and recipes in the US. Many parents of autistic children find it really helps, so the demand for good recipes really increased. Here are a few links for you:

LivingWithout.com

Special Diet Bloggers

Once a Month Recipes

Jan

Type of Myotonia: Thomsen's

Country: USA

Thank you Jan I will look up the sites. Can you please tell me though what could symptoms of MC be? Thank you for the wonderful support of this forum.

Type of Myotonia: Unknown

Country: Australia

Anne,

MC is a condition that affects the skeletal muscles. The chloride channels which allow the exchange of chloride and sodium are altered by one or two mutations and this delays relaxation after a muscle is contracted. If you haven't read the MDA Quest article, it has a very good explanation:

Myotonia Congenita - MDA Quest

Although some women only have noticeable symptoms when they are pregnant, most of us begin to experience the stiffness when we are young - some as toddlers, others around puberty.

The muscles affected include arms, legs, hands, feet, abdominals, diaphragm, throat and upper part of esophagus, face, eyelids, ocular (behind the eyes), scalp and tongue. The stiffness disappears as you warm up the muscle, but sets in again after a period of rest, even just minutes of being inactive. Some people have pain and cramping because of damaged muscle cells related to the myotonia, others have no pain and only experience the stiffness.

With the recessive form it seems to be more likely that you can freeze up suddenly which is very dangerous if you trip or are startled. If you fall you can't catch yourself.

MC does not affect smooth muscle as a rule (although some sphincter muscles may morph over time to include some skeletal muscle). So that means your gastrointestinal tract is not affected, and theoretically neither is your heart, although many of us do have palpitations or arrythmias that seem to be correlated with the stiffness.

Hope that helps -

Jan

Type of Myotonia: Thomsen's

Country: USA

Jan
Thank you

Type of Myotonia: Unknown

Country: Australia