Understanding atrophy with intact nerves

[Jan Bailey]

I had an emg about 15 months ago showing widespread muscle atrophy with intact nerve transmission.  Also had lactate/pruvate ratio of 30 and one amino acid was elevated.  Diagnosis--Mitochondrial myopathy based on very thorough evaluation of biopsy (found 3 rrf's in 3000 cells and "mild atrophy in Type II muscle).  About 3 months ago I begin having daily, sometimes hourly fasics--frequently in back/legs/buttocks and elbow region.  I am having another emg tomorrow and am nervous. I am having increased fatigue in my legs since the fasics--I don't know if I have lost strength in that I can still do much of what I could do a year ago--it just tires me out so much more to do it. It was my understanding that the muscles atrophy in ALS due to demylination of the nerves.  Since I had atrophy with intact nerves on last emg, is it still feasible that this could be from mito?  My neuro says it is probably benight fasiculations, but is that questionable with atrophy in all of my muscles?  The weakness & atrophy began and continue to be symetrical.  Thank you for your wonderful forum...

[Jan Bailey]

I don't know who your "mito expert" was, but you often have atrophy associated with mitochondrial disease.  Myopathy is very common and many people are in wheelchairs because of muscle weakness and atrophy.  My mito diagnosis (when I presented with muscular weakness and atrophy) was confirmed by Dr. Bruce Cohen at the Cleveland Clinic...can't get much better than that.  He could tell by looking at my first biopsy which was read as "normal" at Emory, and the second one with the rrf's confirmed it.  I have no idea which complex's I have--had a frozen biopsy.  And since the treatments are the same, anyway, I'll just let that one go.  My lactic acid was normal, but the lactic/pruvate ratio was off.  I have talked to a few other mito people who "twitch".  Since the lower motor neurons were normal, I am less afraid of ALS and tend to believe that the fasics and fatigue are related to the mito.  You can e-mail me privately at ***@**** if you wish.  JanB

[janelle]

I too have high lactate and was told my weakness was caused by mitochondrial myopathy, emg was normal also with atrophy, my mito was diagnosed by biochimical analysis of the muscle, due to the actual microscopic look was normal.  I was sent to a MDA Dr. who told me it was NOT mito due to in mito disorders there is NO atrophy. Now I am back to square one. Still twitching, still weak and still scared.  Going to CCF at end of Jan. to Hopefully get a proper diagnoses and rest assure it is not als. Did they tell you what COmplex your mito was.  They told me mine was complex I. and the MDA Dr. said alot of people have Mitocondrial defefects, but it doesnt mean you have a mito disorder?  Have you heard that before?  I did not argue because he is soppose to be the expert!


Good luck,

[Jan Bailey]

Thank you so much.  My neuro is a neuromuscular specialist at a University.  My EMG showed a small degree of progression in the atrophy but lower motor neurons remain intact...he checked 3 limbs. NCV's were mildly decreased as well with no reflexes in ankles.  Isn't is possible that I could have benign fasics in addition to having mito (which has caused some muscle atrophy)just as you could have gallbladder attack while being treated for breast cancer?

[CCF-Neuro-M.D.-JT]

The muscle atrophy in ALS is not due to demyelination of the nerves, rather it's due to destruction of the muscle origins in the spinal cord called anterior horn cells which send out the info down the nerves to the actual muscles. The presence of fasciculations (which can be a sign of muscle degeneration) in the setting of objective muscle atrophy is indicative of a problem of the muscle or muscle cell origin (anterior horn cell). With benign fasciculation syndrome, the muscles should be normal. There are a number of diseases that this could represent such as spinal muscular atrophy, primary muscle disorders such as mitochondrial disease and inflammatory/toxic/viral/metabolic (steroids/thyroid/electrolyte abnormalities) myopathies, and ALS. But without examining you or performing your EMG, I cannot make an accurate diagnosis. However, I recommend getting a second opinion from a neuromuscular specialist at an academic center. This could certainly be mitochondrial disease, but it's important that the right diagnosis be made in order to get you started on the approriate treatment. Best of luck.