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jennibf

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Hi everyone. I am freaking out a bit right now as you can probably relate to.

12 years ago I was diagnosed with Cardiomyopathy and Congestive Heart Failure. I was 29 and seemingly healthy. I had a virus prior to the diagnosis but it's still idiopathic (unknown origin). The short version is that I am better, I have scar tissue but a normal heart aside from that. I went through all kinds of medications, cardiac ablation, etc. and have enjoyed good health for about nine years.

Quick fact: Muscle diseases run in my family. I had two uncles and a nephew who died of SMA (the most severe form of muscular dystrophy). I requested testing before having a child and was told I am not a carrier. As far as I know that is the only thing they tested me for.

Fast forward to now and why I am on an ALS forum. I am about to turn 42 and for the past year I have had these strange symptoms. My doctor is now wanting to test for ALS.

Here are my symptoms and what I hope you will give me feedback on:

pain/stiff left hip for over a year (my leg has almost buckled on me). This causes me to walk funny, especially when standing and just starting off walking.

fasciculations just started last week.

stiff and painful neck (ruled out anything cardiac related, do not have meningitis-did have bacterial meningitis a few years ago)....

Also, when I was little I had to have shots to build up my immunity.

They have ruled out everything else, no lesions or anything on my brain during MRI.
They were looking for disc issues or lesions, I found out after the fact.

So, does anyone have anything similar to what I described above above as symptoms? Does any of this sound familiar?
 

laurel

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Hi Jenn,
I was reading about adult onset spinal muscular atrophy and found this. Somewhere in the middle of what is quoted it says that they think that adult onset SMA is not inherited. And some of your symptoms do fit with the adult onset SMA. They say the prognosis is much better than that of ALS and sometimes the two get confused. Good luck.
Laurel

Adult Onset Spinal Muscular Atrophy
What are the Effects of Adult Onset SMA?

The effects of Adult Onset SMA depend upon the muscles affected - proximal (near the body, e.g. thighs and upper arms) or distal (extremities, e.g. hands and feet).

In the majority of cases the weakness is asymmetrical at the onset, maybe in one leg but not the other, but may progress with time to both sides. Often there is no pain, but tired aching muscles, a feeling of heaviness, numbness, tingling and cramp may be experienced. Fatigue is also common.

SMA is a disease where there is degeneration of the anterior horn cells of the spinal cord resulting in muscular weakness. It is a condition where the motor neurones do not work properly. A distinction should be made between Adult Onset SMA which affects the lower motor neurones and Motor Neurone Disease (Amyotrophic Lateral Sclerosis or ALS) which affects both the upper and lower motor neurones. People are sometimes told they have a motor neurone disease and assume they have ALS. Whereas ALS may prove fatal, Adult Onset SMA is not life threatening.

Prognosis of the progression of Adult Onset SMA is difficult because individuals vary enormously.
How is Adult Onset SMA Diagnosed?

The main diagnostic methods are by electromyogram (EMG) and muscle biopsy (taking a tiny sample of muscle). The EMG will show if the nerve signals are diminished, and the biopsy will reveal any reduction in muscle cells. Some people may have MRI and CT scans as well and a range of blood tests. However even with all these tests it is not straightforward to ascertain at which point in the motor unit the damage is occurring.
Is Adult Onset SMA Hereditory?

There are many different inheritance patterns to SMA, so the answer to this question is not as simple as for Type I or II SMA.

In some cases the pattern of inheritance may be autosomal recessive (i.e. both parents must carry the faulty gene) in others it may be autosomal dominant (i.e. it needs only one parent to pass on a faulty gene). Recent research has shown that a small number of individuals with Adult Onset SMA have been shown to have mutations in the Survival Motor Neuron (SMN) gene, in these cases it is believed that Adult Onset SMA is non-hereditory.
 

jennibf

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Thank you. My nephew passed away from SMA type 1. We are unsure of what type my uncles had as it was so long ago; all they know is that the symptoms were almost identical. One lived for a couple of years so it may have been another form of SMA.

I guess only time will tell....that and the tests....

Again, thank you so much!
 

laurel

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Joined
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1,431
Reason
DX UMND/PLS
Diagnosis
07/2007
Country
CA
State
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City
Vancouver
You are welcom

Thank you. My nephew passed away from SMA type 1. We are unsure of what type my uncles had as it was so long ago; all they know is that the symptoms were almost identical. One lived for a couple of years so it may have been another form of SMA.

I guess only time will tell....that and the tests....

Again, thank you so much!

Hi Jenn,
You are most welcome, and I just said a prayer that all goes well for you. Let us know please.
Laurel
 
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