Neurologic condition still unclear

[JoannaP79]

Hi all, I sincerely hope I don't insult you by posting here. I have a pretty horrible neurological illness and facing difficulty getting clear diagnosis. I'm not convinced it's als but have thought of PMA.
I have numerous rheumatic autoimmune conditions including sjogrens which has caused severe autonomic neurological damage, all small fibre nerves destroyed and trigeminal neuropathies. The issue is I have been wasting for 4 years and have lost significant muscle bulk and all muscle tone throughout my body. It looks very much like PMA. I have had numerous swallowing troubles and feel like breathing is difficult. I do have scoliosis now because of this which I feel may be contributing to breathing trouble. I've had numerous nerve conduction emgs and mri of all muscles. All came back clear despite the significant wasting. I have weakness but it's not what you call clinical weakness as strength tests I pass despite being so atrophied. My right sterno muscle has recently gone completely and so cannot tense this anymore. I had a muscle biopsy of triceps which was clear. Poss not a good idea as that muscle doesn't appear atrophied.
Saw a neuro recently who said when he sees swallowing issues it often turns out to be mnd. I don't quite believe this tbh. I have significant twitching everywhere and have for some time.
Emg tests have been very painful as time has gone on due to the damage to my muscles - whatever this is.
I have no clue what this is but lower motor neurons appear affected ( I'm self diagnosing here). I don't know if any of you here have PMA and whether diagnostic tests came back clear for some time initially. The wasting is very obvious visually and is causing huge issues such as scoliosis etc. Yet no explanation. It is body wide.
This has been progressing for approx 4 years. I have significant neurological pain with this also.
Thankyou all for your time.

 

[Atsugi]

I think Joanna is asking for advice on identifying PMA. Progressive muscular atrophy, or Duchenne-Aran muscular atrophy is a rare subtype of MND that affects only the lower motor neurons. Some PMA patients have gone on to develop ALS.

There are few people, not many, but some, who know PMA. I think someone will come along today or tonight who can post knowledgeably about it.

 

[Nikki J]

PMA is essentially the flip side of PLS. It is a disease of the lower motor neurons. PLS is upper and ALS is both. People with what is technically PMA may be given the label of LMN dominant ALS for easier access to benefits and it often turns out that way clinically too.

Joanna Since people with PMA have clinical weakness and abnormal EMGs it does not appear to be your issue. After 4 years of progressing symptoms it seems as if you should have been referred to an academic neurology center which you certainly have in the UK. There are many weird and difficult to diagnose neurological diseases that are not MNDs. Good luck in finding out what it is.

 

[KarenNWendyn]

If you had significant lower motor neuron disease, it would be reflected in your EMGs. The normal EMGs rule out PMA, which is basically a pure lower motor neuron disease, but often evolves into ALS over time.

Sjogren Syndrome can be associated with neuropathy, myopathy, and also fibromyalgia. That, along with severe scoliosis, probably accounts for many of your symptoms. However, nothing in your post suggests motor neuron disease.
Best of luck.

 

[JoannaP79]

Thank you kindly for your very helpful replies. The clear emgs for so long must suggest this not to be the case as you have stated in your messages. Thankyou kindly for taking the time to reply. I have seen numerous 'experts who are quite miffed by my presentation and have suggested lack of excercise which is ridiculous. Hence coming onto forums and hassling you guys.
I'm due to be seen at NHNN London and will leave the PMA possibility aside now. Best wishes to you all. Jo