I can't quite be certain, but it seems as though the researchers who've written about an atypical, SCN4A-related form of myotonia congenita are referring to the disorder that other researchers have called "sodium-channel myotonia," which I've read about before under its alternate name, potassium-aggravated myotonia. In fact, I've not only read about it before, I emailed my husband with a link a couple of days before my appointment with Dr. January, saying, "This is my guess."
However, I'm still really confused. I looked more closely at Dr. January's report, and he says, "I suspect myotonia congenita associated with a chloride channel alteration, but there are other considerations." Okay, SCN4A is a sodium channel. CLCN1 is a chloride channel. I just don't have a chloride channel mutation. I don't. On the other hand, it's now beyond doubt that I do have a sodium channel mutation. It's true that I'm not a doctor of any sort, but this isn't up for debate. Laypeople can understand definitions; doctors don't get to rewrite them without a (generally) hard-to-get consensus.
Believe me, I'm thrilled that an expert is ready to put a name to this. But I do find the discrepancies in the language disheartening. I don't know if the doctor misspoke when dictating his report, or if he misread the report from Athena.
Hopefully, the EMG results in a couple of weeks will be clear cut and leave no room for confusion. I'm trying to figure out just how to ask about this diplomatically if they do, or if the language still leaves me confused.
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