I was diagnosed with myatonia congenita about 1 1/2 years ago. At the time the only symptoms I was having was stiffness and pain from the myatonia. I have now began to have other symptoms that don't exactly go with myatonia congenita such as extreme sleepiness, weak muscles, hands not able to do normal everyday task such as buttoning/writing/holding heavy objects, tremmors in muscles all over body, myoclonic jerks 24/7, legs appear to be getting smaller. I had an emg run that showed the typical runs associated with mc and also my neurological exaim showed typical issues associated with mc. My question is "Has anyone else been diagnosed with MC and then later changed to MMD? Also do these new symptoms sound like MMD? I have researched MC and these new symptoms don't appear to be associated with it. I also have had fertility issues, am on a CPAP for sleep apnea, and almost every symptom associated with MMD. I have been DNA tested by The Periodic Peralysis Association and received a negative diagnosis for any of the periodic paralysis or paramyatonias. My doctors do not seem to want to further test me with the MDA clinic. Any ideas ore responses will be greatly appreciated as I am very frustrated. It has taken me several years just to get this far.
I had lots of different diag. From a lot of Neurologists and muscle biopsies. It took from 1975 to 2011 to finally get a true diag. After a list of what i didn't have, genetics were done and voila I have a diagnosics. Good luck.
Personally I think my not genetically verified dm2 diagnosis is myotonia congentia(recssive) the oppisite of your situation.Iam awaiting the results of the znf9 test(dm2).The test for clcn1 & scna4 (mc,para,etc) will be next if dm2 is negative an expensive process of elimination brought about in my view as direct lack of knowledge by the neurologist ive seen.Here in Australia the gov pays for test but there is only 1 lab that does dm2,MC etc ALL=delays
Good luck on finding the answers you are seeking. It can be a long and frustrating voyage. It's good you don't have to pay for test. They are deffinantly very expensive.
By the way, I did receive verification that I do indeed have MMD instead of MC. Since January I have developed insulyn resistance which to goes along with MMD. At least I know what it is now.
We still don't know for sure. All we do know is I have a neuromuscular disease/Muscular Dystrophy of unknown etiology.
According to my current neurologist, I am one of about 4-5 patients of the over 1200 they see that fall into this category of suspected Mitochondrial Myopathy, but they can't prove it (or disprove it).
Makes no difference what we call it (although it would be nice to know for sure to know what to expect in the future) it has taken away my ability to function as an independent person. It eats away at me slowly, making sometimes the simplest of tasks impossible to do.
I have a keen and organized mind, but those traits are trapped in an uncooperative body.