No less than two neurologists have diagnosed me with SMA, but I have to say, I'm pretty sure I DON'T have it.
I'm strong, graceful and powerful... the only symptoms I'm experiencing are speech slurring, weak tongue and lips and mild difficulty breathing/swallowing, but not terrible.
My shoulders, pecs and hips are as strong as ever, as far as I can tell.
I was tested for ALS and the SFEMG test sure jumped up and down saying it was that, but again... the strength, stamina and lack of deep-tendon reflexes indicate that it's almost CERTAINLY not ALS.
Besides, bulbar ALS (which is what I'd have if I had it) kills you in 6-18 months so if it was that, I'm setting freaking records here beyond the seven year mark.
It's also not Myasthenia Gravis or Kennedy's Disease.
Are the symptoms variable like this? is there such a thing as Bulbar SMA? It seems like no in Type 4s?
David,
there is 4 types of SMA. 1,2,3,4, and ALS looks like SMA.
What is your age? Do you have a DNA test done? How many copies of SMN1 & SMN2 do you have. With BSMA a male is going to have larger than normal pectorals.
Normal pecs. SMA seems to primarily affect people's strength and muscle groups near their core. It's odd that I have speech problems and a marked lack of weakness when I can't seem to find anyone else like that.
I tested for Kennedy's and don't have that.
I have weak deep-tendon reflexes (the opposite of people with ALS) and no Babinsky response so ALS is pretty much out. My neuros seem to feel that only leaves SMA? The test is $875 and my insurance company doesn't pay for it so I'm not super interested in paying for another negative test that only comes out of my pocket and if positive, can only potentially tell me I have an untreatable disease anyway. I had an MRI and there's no scarring or lesions and my brainstem looks pretty. I do have fasiculations and am more emotional than I was before the symptoms started. The emotionality came along with it, not as a result of diagnosis.
It's confusing.
I'm 48 years old. What's BSMA?
It really depends on Your age as well - with adults, the type 4 SMA is quite probable answer.
In any case - it's the Genetics, who can/will give the final (and undisputable) answer. With such a statement from Neurologist, Genetics is the next place to go and get it analysed.
Good luck and strength.