Anti-LGI1 LE & Neuromyotonia

The story of Paul

My husband was diagnosed in late 2017 after comments like “It’s just your age – forgetfulness (68) – talk to a psychiatrist; and those are benign fasciculations” – but only when the bracchio-facial dystonic attacks began – it end up being a 30 day hospital stay.

Myokymia and muscle atrophy initially considered to be ALS. Plex wasn’t very helpful and had side-effects; took 4 months to win Rituximab treatment approval, by which time had been readmitted to hospital (19 days) for steroid and other treatment after the second EMG indicated it was Neuromyotonia (Isaacs Syndrome).

Things stabilized for a while, sense of smell returned but sense of taste did not and cognitive damage was permanent. The more attacks you have, the more antibodies are produced and the more the brain is affected… Gone downhill a lot since mid-2019 and now care-dependent. Also non-specific but it seems as if there’s also non-specific Myesthaenia Gravis.

Looking back on it, symptoms in 2014 with choking-like episodes, which the neurologist did not recognize as significant, might have been NPLE in earlier stages – i.e. a late diagnosis. However, possibly no-one would have recognized the anti-LGI1 at that stage and it was much less in the public eye. Championing the cause, GARD uploaded all the relevant profile info on both conditions at my request, and linked article abstracts, in late 2017/early 2018 – so that professionals and patients can make informed decisions and save lives.