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@jakefix82
Myotonic Congenita: There are two types.
Thomsen disease: A milder, autosomal dominant form that presents early in childhood.
Becker disease: An autosomal recessive form that usually appears later.
I would say even if a person doesn't have major issues due to this, it can effect your bodies response to anesthesia so if you would need surgery, it is good to let the dr's know if you have this.
They said Dystrophic Myotonia 2 is also one that appears later and has very similar symptoms of Fibromyalgia.
The variant that came back for me was on the CLCN1 gene. While the variant that showed up on mine was not known as well, Variant of Uncertain Significance, the doctor and report stated that any variant on this gene can produce disease or symptoms. How significant of an impact remains to be seen for me but for others if they have the more common one, it could be very significant.
Reading about these different diseases or genetic issues doesn't seem as problematic or altering, however for those of us who suffer with Fibro or ME/CFS, manifestations of genetics is so varied in everyone that it definitely could be significant. For some they may never have symptoms or problems, for others might be worse. This may be something that just adds difficulty to treatment, but for me it did explain why I had scoliosis and other odd symptoms throughout my life.
Sorry for the ramble - It has all been new info for me, but definitely something I have NOT ever read on any of the website, forums, books or anything else regarding Fibromyalgia until I had this injury and then sent to a neuromuscular specialist.
Replies to "@jakefix82 Myotonic Congenita: There are two types. Thomsen disease: A milder, autosomal dominant form that presents..."
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@lisakaypowers Thank-you so much for the info! Now that I’m 77, I’m dealing with a different set of issues that don’t seem to align with the fibro issues I’ve had in the past.
In recent years, I’ve had 2 UTIs, the diagnosis for each was preceded by the onset of severe muscle clenching. First time, my left hip wouldn’t function - muscles were wound so tight that the joint froze and the muscles were inflamed. Once the UTI was diagnosed, antibiotics cleared it up quickly, but it took more than 3 months for the muscles to resolve.
Then a few months ago, I developed clenching of muscles in my left flank. Within a couple weeks, signs of a UTI were apparent and the infection cleared up within a week with antibiotics. After 3 1/2 months, the left flank muscles have resolved in the last week. . Until now, any movement aggravated and inflamed those tight flank muscles.
It seems my muscles over-react to any sign of infection in my body a few weeks before it’s apparent that there’s an infection somewhere. I’m now on hormone cream to hopefully prevent another UTI - but months of rest so the muscle tension resolves at my age means my muscles weaken. I can no longer take anti inflammatory drugs, as they cause internal bleeding. I just started back with mild exercising a few days ago - so far, so good. But my legs are shaky. I use a cane and I also have idiopathic peripheral neuropathy. I’m thinking I need to see a neurologist to sort this out. Just had a full neurological workup five years ago and that’s when the neuropathy was diagnosed.
Thanks again!