Linda,

Many people have conditions related to mitochondrial dysfunction...it can be inherited or acquired. We're still trying to pinpoint my exact condition but we know that it affects my energy production and I get much worse when I eat longer chain fatty acids like olive, canola and flax oils or if I eat fish. One of the main treatments for fatty acid oxidation disorders is the amino acid carnitine. I use the form Acetyl-L-Carnitine which you can get at any health food store. It has made a huge difference in my muscle function and stamina.

Coconut oil is a medium chain triglyceride which can also be helpful for certain types of mitochondrial disorders because it can be metabolized much more readily for fuel. That same is true for palm kernel oil. One of the problems with myotonia congenita is the extreme demand on the muscle cells because they are always firing, even when we are at rest. I use a combination of coconut and palm kernel oil called MCT Oil made by NOW Foods (also available at the health food store). Perhaps this is why the coconut oil is helping you.

You might want to give the carnitine a try. I take one capsule a day. That's interesting about the EMG. I had one where the myotonia totally disappeared in an area in my thoracic spine where I had severe nerve damage, but it could be detected in all the other sites they tested. I don't think a pain killer would affect the discharges, but a muscle relaxer might.

It's fairly common to see the "burned out" muscles with either nerve damage or muscle cell damage which is see in paramyotonia congenita (MC and PMC are often confused). It's more likely from injury and poor nerve supply. Did the doctor do a nerve conduction study, too, or just the EMG?

Jan

Type of Myotonia: Thomsen's

Country: USA

Yes, he did a NCS also and it was all normal. He said the were no nerve problems. I had been experiencing what felt like nerve issues but they have gotten better since working with the PT and using the medications. So perhaps there had been some nerve impingement that is now beter. In any case, there was no evidence of a nerve conduction problem (he tested this for the spine also) or damage on the NCS, which is good news. He tested multiple areas of both arms for both the EMG and the NCS. He said the the EMG showed a chronic myopathy. He said that the "spent" muscles had gotten burned out by the MC. When I went for the EMG I did not feel any stiffness. I can tell when the MC is more active. At times I don't feel it at all, so it is interesting that consistent with not feeling the MC symptom of stiffness, nothing showed up on the EMG. As you noted, it may have been the medication used to relax my muscles. Do you know if myotonia will show up on an EMG when a person is taking mexilitine?

I am wondering how common it is for people with MC to have the burning, cramping and weakness I mentioned, especially later in life. It was not until I got to this site and had my genetic testing that things I was experiencing started to add up and make sense. It seems that someone should talk to the neurology God's and have them update their professional info!

I will look into the supplement you mentioned.


Linda

Type of Myotonia: Thomsens

Country: USA

My son was diagnosed with MC today, waiting for a follow up appt. reading on here it seems cramp is a key symptom is this correct?

Type of Myotonia: Not sure yet

Country: Scotland