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justqanh

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Hi everyone, first of all, english is not my native language so sorry if my words confuse you.

So I have been diagnosed with a mild type of SMA for 7 years, since I was 16-17 year old. I do a check up once every 2 years, and the result is still SMA everytime. The disease first starts with my right hand, with common LMN symptoms such as atrophy, weakness and fasciculation. It progresses very slowly, has just started to affect my left hand and both legs in the last 2 years, and my back and shoulders since the last year. Now I’m having overall atrophy and weakness of my body but not much, I’m still strong enough to go to the gym, doing deadlifts, chest press and stuff. I have no problem walking or doing everyday activities, just feel a bit fatigue recently.

Last week I went to a new neurologist, he said I may have some type of ALS, which terrifies me, since my SMN gene test is negative. I returned to the old neurologist for advice, she reassured me that she doesn’t think I have ALS, because Im missing UMN sign, the slow progression of my disease and the young onset age. She also said that only SMN gene testing is not enough since SMA covers a wide range of mutated gene. But I still worry about what the other neurologist said, because my disease seems to speed up recently.

So what do you guy think? Is there any case of ALS that progress that slow? Do I need to worry? If I do have ALS, with that slow progression what is my pronosis? Thanks
 

Atsugi

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I see no reason to disagree with your neurologist. No UMN signs, no weakness, and fatigue all point away from ALS.
 

justqanh

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I already stated that I have overall weakness and fatigue mike, although they are mild. I have motor neuron disease so I don’t see any reason of not having those symtoms.
 

lgelb

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I know of no cases that young that are that slow. So I would tend to believe your old neurologist. And it is true that many different genes are implicated in SMA and similar syndromes.

I don't know if there is access to Spinraza® in Vietnam, but it is worth considering.

Best,
Laurie
 

Clearwater AL

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Just wondering... has your Neurologist mentioned demyelinating diseases?

Maybe one of the more knowledgeable members can chime in on this if it not in the realm.

PS. Spinal Muscular Atrophy can often closely mimic ALS. At your age it would be Type 4.
 
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justqanh

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She didn’t mention demyelinating disease. And since my SMN gene testing is negative, she believes i have a more rare type of SMA, which affect other genes than SMN.
 

justqanh

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I know of no cases that young that are that slow. So I would tend to believe your old neurologist. And it is true that many different genes are implicated in SMA and similar syndromes.

I don't know if there is access to Spinraza® in Vietnam, but it is worth considering.

Best,
Laurie
Thanks Laurie!
Is there any chance that I have PMA? I heard that it’s slower than ALS and it only involves LMN. But then again I heard that it’s an adult onset disease.
Unfortunately, Spinraza is for SMN gene-related SMA only.
 

lgelb

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SMN-related SMA is said to represent 95% of cases, and as you indicated, not all genes are known. So from what I have read, it has been used in all SMA subtypes, known and not.

PMA seldom proceeds for the several years you have had without UMN dysfunction for the full ALS picture and as you say, it's adult-onset and would look different on an EMG than SMA.
 
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