Does anyone have ALS and a Myopathy?

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robc

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I have upper motor neuron disease at this point plus some sort of myopathy, presumed to be metabolic. I have been told by OHSU & the Cleveland Clinic that these are separate & unrelated. I understand this is very rare & I find very little literature on this occuring.

Thought I'd check to see if anyone here had been diagnosed with both Motor Neuron disease and a myopathy.

Thanks!

-Rob
 

CindyM

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Hi Rob- I hope there is some wiggle-room for a mistake in their DX. Two bad diseases are just not fair at all. :cry: Cindy
 

robc

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Hi Cindy,

Thanks for the hopeful thoughts - at first when they said I had a myopathy I got excited & thought great, maybe this is better than a motor neuron disease. It took lots of explanation from two specialists for me to understand how they could be separate & unrelated, as bizarre as it is.

I will touch base with Leslie - thanks!

-Rob
 

ltr

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Rob,

I will get a hold of you privately, but for the forum's sake, can you tell us how you were diagnosed with myopathy? I had clean EMG and CK's, but muscle biopsy was positive. The good news is that a muscle biopsy with inflammation should not ever be als, at least that's what the neuro said!
 

robc

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ltr said:
Rob,

I will get a hold of you privately, but for the forum's sake, can you tell us how you were diagnosed with myopathy? I had clean EMG and CK's, but muscle biopsy was positive. The good news is that a muscle biopsy with inflammation should not ever be als, at least that's what the neuro said!


While I did have one normal EMG, three others showed small motor unit potentials, which from what I understand is indicitive of myopathy.

While my biopsy showed prior dennervation/reinnervation & did not show inflammation, it did show lipid (fat) storage in the muscle, which is indicitive of a metabolic myopathy.

I do not have myogloburina (rust colored urine) or elevated CK indicating muscle tissue breakdown that you'd see in many myopathies, but I have had excercise intolerance for 7 years (extra extra sore for days with any sort of real excercise).

I also had an abnormal lactic acid test. Actually the first lactic acid test I did (forearm aschemic test) was normal, but then I had a more reliable full human peformance lab test where they put me on a treadmill, measured my heart rate, oxygen utilization, etc. & took blood before and after. What they found was not lactic acidosis which is common in many metabolic myopathies, but the opposite - my lactic acid levels didn't increase very much - about half the level of normal.

Motor Neuron stuff has come on in the last year - brisk reflexes, spasticity, awkward gait, cramps, weakness, fatigue, etc.

The doctor I saw at the Cleveland Clinic had never seen a myopathy + metabolic disease before so I guess I'm some sort of superfreak :)

On the upside, I figure if I can't do anything about the motor neuron disease at least maybe I can do something about the metabolic disease.
 

ltr

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It goes to show that tests such as CK levels and EMG's aren't always reliable. Your lactic acid test is interesting. I wish there was some way to convince my neuro to do one, since, when I think back into my past I can think of exercise problems for a long time. Do you ever get the feeling they are missing something with you? And what do you do about the metabolic disease.....hopefully your treatment of that will reduce many of your symptoms. Actually I'm praying they disappear for you completely.
 

robc

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I'm not sure how much trouble the metabolic myopathy is causing me now since I can't do much physical activity now due to fatigue, spasticity, weakness, spasms, cramps (all new with onset of upper motor neuron disease in the last year).

Excercise intolerance had caused me really bad soreness and a flu like ache for days. This had started 7 or 8 years ago and kept getting worse

Have you had an eschemic forearm test? They have you squeeze a ball and check your lactic and pyruvate blood levels.
 
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