General questions

[Jenmicoli]

Hello - My daughter is 18 years old and about two months ago she started having numbness in her foot like it was asleep when walking. She also started to feel like she was feeling weak in her legs which then spread to her arms. JFast forward to today. All blood tests are normal, so far MS, MG, GBS, CIDP and Lymes has been ruled out. She had a contrast MRI which showed no abnormalities. Her NCS was normal but her EMG showed mild muscle denervation in her left quad and calf muscle. On her right side there were normal signals mixed with abnormal signals. I apologize for the lack of detail. So far she has confirmed mild weakness in her legs left side worse, random body muscle twitches and recently showed hyperflexia. Not sure which reflexes as the neurologist was not specific. She will be sending the detailed report in the mail. She also has muscle stiffness which occurs after she has been resting for awhile. Most prominent in the morning. We have been referred to a neuromuscular specialist.

I know that she is young and I know that ALS is rare for her age but I know it does happen. Rare has no meaning for me after my son had a rare autoimmune disorder after receiving a vaccination. I guess I just want to know if her symptoms at all seems like ALS or something else. I figured this would be the best place to ask this question. I don't want to be one of those crazy moms who over worries but I am. This is my daughter and I'm concerned. I know I should just be patient and wait for an official diagnosis (which could take months) and I know you aren't doctors but any insight would be helpful.

 

[Nikki J]

Numbness and feeling weak would not be usual presenting ALS symptoms and you don't have EMG detail for us to know if that is consistent with ALS

You are right non familial ALS is very very very very rare in an 18 yo. There are many strange neurological diseases including some rare genetic diseases. I hope you are going to a major teaching hospital to be seen

Good luck. Let us know what the answer is

 

[Jenmicoli]

Thank you for responding. She no longer has the numbness sensations. That was very early on. She does have confirmed mild weakness in her limbs. Yes we saw the neurologist at the University of PA Children's Hospital of Philadelphia. Our appointment with the neuromuscular specialist will be there as well. Her symptoms are just so strange. It's hard to be patient. Again, thank you for taking the time to respond.

 

[Jenmicoli]

I was able to finally get my daughters full report from her doctors. Here is a part of what it says.

NCS was normal. Needle EMG: of selected muscles of the bilateral L4-S1 myotomes was performed. Bilateral peroneus longus and gastrocnemius muscles showed evidence of mild active denervation where in these muscles only when activated there appeared to be fasciculation where there would be rare giant polyphasic waves crossing in the screen mixed in with otherwise normal units. I did not see these at rest. IMPRESSION: EMG showed questionable active denervation of the bilateral peroneus longus and gastrocnemius muscles concerning for a possibly underlying myositis.

On my exam, she has mild symmetric muscle weakness legs > arms and proximal > distal. GBS/CIDP less likely in the presence of normal to elevated DTRs and normal NCS. Acute central/structural etiology is much less likely in the setting of a normal MRI. Dermatomyositis presents with progressive, symmetric mild-to-moderate proximal muscle weakness of the shoulders but there is no history of cutaneous findings such as a heliotrope rash or shawl sign. Polymyositis similarly presents with muscle weakness in the absence of skin findings. Immune-mediated myopathy can present with subacute proximal weakness associated with myalgias but there is no history of inciting illness (other than temporal history of a flu shot) and acute inflammatory markers were normal. She has a +FHx of myesthenia gravis but her AChRc antibody was reportedly negative.

The talk about myositis but her cK tests (2) have been normal. Also, does myositis cause muscle fasciculations? Two months ago her muscle strength was normal now she shows mild weakness. She has muscle stiffness and muscle cramping mainly in her legs but also has had back pain. Her arms feel heavy. She also gets what she describes as shooting pains in her left leg and sometimes back.

Any way I guess I want someone to tell me that this doesn't at all sound like ALS. We are seeing a neuromuscular specialist in March. All opinions are welcome.

Thanks*

 

[KimT]

Did they mention anything about wanting to do a lumbar puncture and test more extensively for autoimmune diseases? She didn't present with ALS symptoms and the neuromuscular specialist will, hopefully, be able to rule ALS out.

 

[Jenmicoli]

Kim -

Thank you for responding. I wanted to get a lumbar puncture long ago to rule out CIDP but since her NCS was normal and she has hyperflexia (not sure which reflexes it's on the report but things are abbreviated so it's hard to say what they are) they pretty much ruled it out. However I will bring it up again with the neuromuscular specialist. The neurologist really didn't have a clue except to say that we needed to see a neuromuscular specialist.

It's frustrating to watch my daughter go through this and not have a diagnosis yet. We have so far ruled out MS, MG, Lupus, fibromyalgia and lymes. IShe has trouble walking up and down the stairs and her left leg seems to be more bothersome to her than her right. She complains her muscles feel stiff. And she feels the muscle twitches more on her left as well.

I just want to be prepared mentally for the worse yet hope for the best. Trying to be patient for an actual diagnosis. Like I said in my first message I know she is young for ALS but anyone can get struck by lightening. I know ALS is completely random.

 

[lgelb]

I do not see ALS here. The EMG report and symptoms/electrical activity that is different in action vs. rest, speaks to suspicion of an inflammatory, viral or immunologic process that attacks the muscles, not the nerves that control them. CHOP is a great place for her to be, and I am sure the answer will emerge.

Best,
Laurie

 

[Jenmicoli]

Thank you Laurie!

I'm glad I posted here. Just wanted to hear a few people say that it's pointing away from ALS. It could be anything at this point.

Once I find out what's wrong with her I won't worry so much.


Thank you

I send prayers to everyone on here who has been diagnosed with ALS and for their caregivers.

 

[Atsugi]

I understand your concerns. As I started reading, I sat on the edge of my chair, but when you gave a more complete picture I could see clearly this is not ALS. I'm not a doctor, and I'm no expert, but the other two people who said "no ALS" before me are world-class smart on ALS. So you should be thinking of other conditions, not ALS.

You need to go to a really hot-shot neurology clinic for this, I think. Probably a large teaching hospital would be best.

 

[lgelb]

Jen's daughter is receiving care at CHOP (Children's Hospital of Philadelphia), which is indeed world-class.

 

[Jenmicoli]

Thanks everyone for reading my post. I do feel better to some degree that its not ALS but I would like for the doctor to actually rule it out like they have the others. I do realize that there are many other things it could be. .

As far as the polymyositis or auto immune disease suggestions that would be good however she has no elevated inflammatory or autoimmune biomarkers. I would think that if she had myositis her CK and LDH levels would show it. And does polymositis present with muscle twitches?? She actually had two CK tests done which were both negative. Even the neurologists are baffled by her.

I feel confident that the CHOP neuromuscular specialist will have at least some clue to what might be going on. Again the waiting is terribly frustrating. She woke up this morning choking and told me she had to catch her breath. This was a text I received from her while at work. I don't know whether to worry about these types of symptoms or not. She does get short of breath when walking and going up and down the stairs.

I don't talk about about possible diagnosis's. I always tell her that the Dr. will figure it out and we have to be patient. I don't want her to worry and I told her to stay off the internet. Thankfully she doesn't take after her mother in that way!! I do the worrying for both of us.

Anyway I'm ranting now. Thank you all again for your input. It has been helpful. I will write again when I know what's wrong with her. Her appointment is 15-Mar.

Bless you all!