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doybal

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May 9, 2011
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Learn about ALS
Country
MX
State
DF
City
Mexico
When I was 18 (2004) I started to notice that my right leg was weak (Calf area), constant twitches, and tremor in fingers. I had EMG done and it had the following conclusions (Translated from spanish, please excuse any mistakes):

Abnormal results with signs of Peripheric motor neuron.

Doctor that did the EMG test recommended to focus on ALS.

Biopsy: Showed evidence of motor neuron disease

Doctor closed his case with SMA III

A year later I had genetic test for SMA III and it came back negative.

Since my symptoms where not all that bad and was getting mentally tired and depressed of going to the doctors I stopped going and accepted the fact that I had SMA III.

9 years have passed and right leg is alot weaker still mainly in the calf area (I can still walk without problems, and run short distances), I have twitches all day and all over my body, my left leg and arms are starting to get weaker, I also have small cramps all day they start once i get out of bed and they arent very painful but last a long time this happens mainly in my upper/lower legs, arms, and back.

My first MRI will be on saturday.

With all these symptoms I am very confused on what it can be, since 9 years have passed and symptoms have progressed slowly.

Can anybody please help me understand what disorder my symptoms point too.
 
You probably have SMA like your Doctors have told you. If the gene test is not positive or helpful, then I believe it is diagnosed by EMG and biopsy. You should be having regular follow ups with a neurologist to help you with the problems that occur with the progression of SMA.
What you need to do is go back to the neurologisyt who diagnosed the SMA. you need to be helped with symptom control and rehabilitation.
Aly
 
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