Anyone else looking into Congenital Myasthenic Syndrome after near-normal workup?
28F here. Been dealing with significant episodic symptoms for 6+ years. All antibodies negative, RNS only showed one borderline finding in orbicularis, everything else normal. Yet the symptoms are very much not normal.
I *am* suspected to have mitochondrial myopathy but all the MG symptoms fluctuate too much for it to be myopathic in origin.
I’ve been going down the rabbit hole of Congenital Myasthenic Syndrome lately. I know it’s usually a childhood thing but apparently late/adult onset does exist and I can’t help wondering if some of us in the seronegative ambiguous-findings camp might actually have an undiagnosed CMS.
Has anyone here looked into this or had genetic testing done? Or is anyone else just stuck in the same frustrating diagnostic limbo?
Would love to hear from people in the same boat.