ALS, muscular dystrophy or what?

[haileyone]

I'l try to make this short. I am a 45 year female who has always been healthy until recently. My symptoms started in April with a heavy feeling in my right forearm, which weeks later spread to my left forearm. Over the summer both upper arms and left leg became weaker, with mild atrophy in forearms and hands.
(Atrophy was noticed by my local neurologist.} I also have a heavy feeling on the left side of my face which makes it feel as if it is drooping, although it doesn't look like it is.

All blood tests, spinal tap and brain, spine MRI tests normal. I was even treated for Lyme, even though I tested negative, but it didn't help so the doc stopped the meds.

I have had two abnormal EMGs the first in August at the U. of MD. showing chronic systemic nerve damage. The second abnormal EMG was in January at Johns Hopkins and it revealed short duration small amplitude units in the proximal muscles. He reffered to this in his report as evidence of mild non-irritable myopathy. The doctor who performed this EMG is head of neurology at Johns Hopkins, a very good doctor.

I had a muscle biopsy yesterday of my left upper arm at Johns Hopkins, (which is making typing difficult!) Those results will take two weeks.

Any insight into whether this might be a motor neuron disease or muscular dystrophy? It seems that all benign illnesses have been ruled out. I know ALS is a diagnosis of exclusion. The doctor wants to wait until biopsy results come back to discuss the possibilities, but I'm anxious for an expert opinion.

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

First of all, keep in mind that I am unable to diagnose you because I am unable to examine you, this forum is for educational purposes.      
   The symptoms and story that you present are non-specific, but are most consistent with a myopathy (disease of the muscle).  The asymmetric presentation that you describe (first one arm then the other) and the involvement of the proximal muscles makes a muscle disease more likely than a disease such as a radiculopathy (pinched nerve) or motor neuron disease (ALS).  The suggestion of a 'non-irritable myopathy' likely means that there is not 'active dennervation' going on.  Irritable patterns(presence of sharp waves and fibrillation potentials) with active dennervation are more often seen in inflammatory myopathies such as polymyositis or dermatomyositis (although the muscle biopsy is much better at making the diagnosis than the EMG).  There are a number of possibilities on what your biopsy could show including inclusion body myositis (IBM), metabolic myopthies, toxic myopathy (including steroid myopathy-if you have been on steroids), and non-specific changes (such a fiber size variation, etc).  I agree with you doctor that the biopsy results will help guide your discussion of the possibilities.  Given the limited amount of data that you have provided in this question it is impossible for me narrow down the choices for you, but you could also have a congential myopathy (such as the spinal muscular atrophies) , an aquired myopathy (non-inflammatory vs inflammatory as discussed above) or this may represent motor neuron disease (ALS).  I would suggest close follow up with your neurologist for the biospy results, and you may require additional testing based on the results (genetic testing, metabolic testing, etc.)
I hope this has been helpful.

[haileyone]

I forgot to mention that I have also had muscle twitches that come and go since early summer. Sometimes they are visible sometimes not. I also have a feeling of vibrations occasionally in my left foot and calf.

[Margaretx]

You've had a complete workup, including an EMG and a muscle biopsy, from the head of neurology at Johns Hopkins and you're asking us what we think?  What does it matter what we think?  You need to press your doctor for these answers, whether he wants to give them to you now or not.  

[haileyone]

To Margaretx:

I posted here with a sincere desire to get another opinon while I await test results. Your hostility is unfounded and quite frankly immature. If you have nothing positive to add, then mind your own business please.

To others: I welcome any helpful comments and I'm awaiting the opinion of the medical professional here.

[Margaretx]

I've never understood patients' reluctance to question their own doctors about their conditions.  It amazes me that anyone would allow a physician to perform an invasive procedure like a muscle biopsy without understanding EXACTLY why the doc thinks such a procedure necessary.  I suppose one explanation could be that the patient just doesn't want to know what the possibilities are but this is clearly not true in the present case since you are asking an anonymous doc who has never examined you to explain what's going on with the real doc--an expert in his field and someone who HAS examined you.  It's baffling.

[haileyone]

Margaretx, I am baffled by your continued urge to comment on my post without offering any helpful advice.

I never said that I hadn't talked to or was reluctant to talk to my doctor about why I was getting the muscle biopsy or the possbilities of what is causing my illness.
What I said was he wanted to wait for the biopsy results to discuss the issue further because he wanted more data to work with.
I expressed here that I was anxious for my test results and was curious what the docs on this website might have to offer as I await those results.

Margartex, I don't know who you are or why you have a beef with me, but I suggest  you should visit the Mental Health section of Medhelp.org since you appear to have anger issues. Since you seem more interested in harrasing me then offering helpful advice, please mind your own business and refrain from commenting on my post. Frankly, I'm not interested in your innane comments.

To all others, any helpful comments are still welcome and encouraged. I am suffering here, and waiting for the biopsy results over the last two weeks has been quite difficult. I would appreciate comments from anyone with similar symptoms who might be helpful.

Thank you.

[AMO]

hi,
i     am sorry you have had to go through what you are.
although  i do not have a mND, i do havee a degenerativee neurologic disease with no treat ment.
I had  been throuh mmany years of uncertainty and waiting. Some oof thewaitng time s for test have beenn the hardest.
Hang in ther Hailey, its one dy at a time ,right?
It can bee very tough i know when you may be scared and ffelling badly.
keep faith.... Amo

[holbalsa]

haileyone
i was wondering how you are doing? i wanted you to know---we all are here to get answers and hope/help. also wanted you to know that i understand how hard it is to trust some one you don't know, with your life, your health. i believe to give that much power only works to chip away at our very nature. so- keep on asking the questions you need to ask, with out regret.
trust me - it will keep you strong.

[haileyone]

Thanks for asking. I'm doing the same, anxiously awaiting next week's appointment back at Hopkins. I met with a counselor from the ALS Association today. I am hoping for the best but preparing for the worst. I will post here again if I get a diagnosis. Again, thank you for concern. I'm hanging in there.

[haileyone]

I forgot to mention in my last comment that the muscle biopsy was normal, so ALS is even more likely now.

[anxious girlfriend]

My boyfriend is a very healthy 39 year old.  When we first started dating I noticed that his left eyelid was a little “lazy” or slower than his right (just a little) but I never said anything because I thought he might be self conscious about it.  About 6 or 7 months ago he started getting tingling in his left ring and pinky fingers and also his left foot.  It has progressed into the following symptoms:  Nausea, numb limbs (mostly left- hand, forearm, foot and calf), numb left cheek and chin difficulty breathing or catching his breath at times, occasional raspy voice, blurred or double vision in left eye, twitching and muscle spasms…mostly on left side but now a little on the right, stiff sore neck, stiff left shoulder and back by shoulder blades,  frequent headaches, insomnia, night sweats, wakes up and his left arm is completely numb (asleep), and feels like there is bad circulation to his left hand (red and colder).  These have all gotten progressively worse over the past month.  Over the weekend his left shoulder muscle went into spasms and I could literally see the muscle twitching!

A little health history:  18 years ago he was in an accident where he almost died.  He fractured his skull, the left cheek bone and jaw, broke his collar bone (left) and 3 ribs, and collapsed both of his lungs.  

Something else that I wonder could also be a factor is that he worked at a computer constantly for the past 7 years.  The person who ran his company for him left so he’s been doing everything himself now for about the past 8 or 9 months (wondering if it could be stress related but he still seems pretty calm and together).

He has had blood work to test for vitamin B deficiency and an MRI of his head for MS… clearing both.  We are waiting for the test for Lyme disease to come back and are going back to his Neurologist for more physical examinations this week.  Of course every time he has twitching or numbness it consumes him and he becomes obsessed with it and I feel SO completely helpless.  He thinks it could be something very minor to something as serious as Parkinson’s disease or ALS.  

I would love some opinions or suggestions on what to even test him for.  Please help!

-Anxious Girlfriend

[Irish1983]

A related discussion, POMMS was started.