Ocular Myasthenia Gravis or Congenital Myasthenic Syndrome

[Jen2803]

Has anyone been diagnosed with Ocular Myasthenia Gravis which may have been a misdiagnosis?

Husband diagnosed with seronegative OMG in 2008 age 38 years. Symptoms of double vision

( Diplopia) and ptosis only over the years.

TREATMENT OVER THE YEARS

Mestinon- unsuccessful

Immuran - liver damage

Cellcept- unsuccessful

Plasmapheresis - unsuccessful

IVIG- unsuccessful

SFEMG- abnormal

Prednisone in high dosage that is then tapered down to 5mg has relieved the double vision. Attempts to wean off prednisone brings back the double vision. Years of prednisone has implications for other health conditions he has developed.

He is CEO of a listed company hence continues to lead a highly stressful life. Stress and high temperatures ( South Africa) often worsen the double vision.

Looking at old photographs dating back to when he was a teenager, the ptosis is noticeable. This has led us to believe that the possibility exists that he may have Congenital Myasthenic Syndrome ( A Genetic disease) rather than OMG ( an auto-immune disease).

We are meeting with a Genetic Councillor who will guide us on the appropriate GENETIC TEST

( whole exome sequencing) to confirm if he has indeed been misdiagnosed.

[Nick_Ed]

I have Ocular Myasthenia which could turn out to be a misdiagnosis, though that would be for Lambert Eaton Myasthenic Syndrome rather than the genetic variant. I also have lung cancer, which can trigger LEMS, and it was found after my diagnosis of Myasthenia.

However, a good find of my has congenital myasthenia, and he is on exactly the same medication as me (Predisolone) at a similar dosage (I am on 10mg, he is on 8mg), and that alleviates some of his symptoms including double vision. He has also taken pyridostigmine in the past, and I think ephedrine, but nothing else has been particularly effective.

It could be a misdiagnosis, and the test will likely tell you that, but it may be that the treatment, and side effects, are not all that different.

[Jen2803 in reply to Nick_Ed]

Dear Nick

Thank you for taking the time to reply. Greatly appreciated!

I find it particularly interesting that Prednisone works for both you and your friend with Congenital Myasthenia- as it appears to be what clears my husband’s symptoms of double vision as well.

My husband has used pyridostigmine ( mestinon) in the past. It’s difficult to say whether that has helped with the double vision as it was always used together with the prednisone. Currently he is on salbutamol (2mg 3X a day) together with the prednisone.

Met with the genetic councillor yesterday. Hopefully in 3weeks we should have some clarity on this disease.

The very best with your health.

[Nick_Ed in reply to Jen2803]

I tried pyridostigmine for my symptoms on its own, but it had no effect. I then went on to prednisolone, building up to 30mg. The plan was to gradually reduce it to 5mg over the course of a year and then build it back up if symptoms came back, but my cancer diagnosis (which was found as part of the myasthenia investigation whilst scanning my thymus gland) put paid to those plans. I had to very quickly get down to 10mg so that they can carry out lung surgery to remove the cancer - that will haven on Tuesday next week. Thankfully my symptoms haven't come back yet, so maybe 10mg is ok for me! The hope is that I do actually have LEMS, which only about 1 in 400,000 people get, because there is a good chance that getting rid of the cancer will also get rid of that.

Does your husband takenanything alongside the prednisone tablets to mitigate the long term effects? I also take calcium carbonate (1.5g) for my bones and Lansoprazole (15mg) to counter any stomach problems.

[stiff19 in reply to Nick_Ed]

Hi can I ask you did you have any noticeable symptoms re thymus.I have been ruled out myasthenia on tests but still remain a mystery but steroid trial of a week but not been seen since and I was reading about thymus problems as I have swelling in chest thymus area and neck glands and it said that raising your arms which I posted about can open the eye which it does mine and its been dropped for years leading me to think the problem lies in my thymus and with Lambert eaton being mentioned years ago I think there may be a link.the steroids reduced a lot of inflammation.

good luck with surgery and best wishes