12-year old with possible ALS symptoms

[jlcarey1]

Hi, I'm wondering if anyone can answer some questions I have.  I have a 12-year old niece who has been showing some bizarre symptoms.  I want to explain fully so that you may get a clear picture, and hopefully I can get some educated opinions of what the problem may be.  I also understand that we won't know anything for sure until she sees the neurologist (she is scheduled for next Tuesday), but I just have so many questions right now that I figured it couldn't hurt to go ahead and ask.  Here goes:  We noticed about 9-10 months ago that she was having some facial "tics" I guess you would call them.  She would almost constantly squeeze her eyes shut or open them really wide, she would squeeze her chin back as far as it would go and sort of grimace with one side of her mouth, etc.  That lasted for a while, but it never got any worse or seemed to bother her at all.  Now just in the last two months or so, though, she has a whole new set of problems.  It started with my sister noticing that she just never seemed to sit still, she always seemed very fidgety, constantly moving.  Then about 3 weeks ago, we noticed that she wasn't using her left hand (she is right-handed).  She just let it hang at her side most of the time and used her right hand for everything unless she absolutely had to use both hands.  She told us that she had a hard time controlling her hand and we noticed that it would just kind of flop around on it's own.  It curls back sometimes and her whole arm sometimes will just go out to the side or above her head.  Her hand would clench, not tightly, but you would see her fingers curl in, then her hand curl and flip around, etc.  Anyway, about that time, my mom also noticed that sometimes her speech seemed a little slurred, she described it as it seeming like her tongue was too big for her mouth.  Around that time, my sister took her to Cincinnati Children's Hospital, and a doctor (I believe just a GP) saw her at that time.  She ordered an EEG (which came back normal we found out later).  But while she was having the EEG, they said her hands kept hitting the sides of the machine and also her feet were flopping around and that by the time they were done with it, that her shoe was across the room and her sock was off of her foot.  They taped that EEG session for the doctor to see what she was doing, and the doctor saw her, watched her walk, asked her to hold both hands out in front of her and turn her palms up.  When she tried this, her left arm would fling out to the side, so the doctor tried to hold her hands that way and she was jerking the doctor's hands the same way, left hand out to the side.  So they scheduled her an appt. with the neurologist there, but they couldn't get her in for almost a month.  Since then (about 1 1/2 weeks ago), the symptoms have progressed equally to her right hand, so that she can no longer write legibly because her hand moves around so much.  She also has a LOT of trouble trying to stand still and walk.  She is constantly re-balancing and shifting her weight from foot to foot because they spontaneously just move or kick out.  Her speech has gotten progressively worse, to the point that with those of us she is comfortable with, she just taps you and points or mouths what she is trying to say instead of speaking.  I have noticed also, regarding her speech and her mouth, that in the past 4 or 5 days that her tongue tends to hang out of her mouth some when she talks or just to stick out and then back in sometimes when she's just sitting there.  It never seems tensed, more flat and wide, and it tends to cause spit to gather at the corners of her mouth.  My sister has noticed recently some problems with her neck also.  Apparently, she is bending her neck and tilting her head pretty often.  I haven't noticed it myself so I'm not sure if it is a jerky motion or just a constant movement as it was with her hand.  So based on all of this, I've found suggestions of ALS, but I am skeptical about this, as seeing it in a 12-year old seems pretty rare, and even more so with no family history.  It also seems to be progressing much faster than what I've gathered upon reading a lot of information on ALS.  Also, I have asked her about any cramping or fatigue of her muscles and she says there is none, just no control over them.  She has seemed pretty tired herself lately though, and sleeps a bit more than usual.  She has also lost some weight, we're not sure how much, but definitely enough to notice (she was kind of hefty to begin with).  I have been having trouble getting her to eat much most of the time, other times she seems to eat almost normal.  So I know this was very long-winded, but is there anyone knowledgeable about all this that can give me any insight as to what the problem could be.  I am just trying to get an idea if this seems like it may be ALS, or if not, what the other possiblities are.  Thanks for any and all information anyone can provide.  We are on the edge of our seats worrying about what is wrong, and having to wait so long to see the neurologist is just making it worse.  Thanks again!

*Oh, also, we've noticed that when she is sleeping, she has none of the movements that she has when she's awake.  Her hands and feet are always still.  

Jessie

[chochmeh]

what a nice concerned auntie! poor kid...she definitely needs to see a specialist...sounds like a palsy...if it gets so bad and you can't wait, take her to the ER of a good teaching hospital or major medical clinic...go to the MDA website and there should be lists of hospitals and specialty clinics by state...they will probably admit her and get all the tests down in one swoop...if you don't want to do that, keep calling the neuro's office she has an appt with and check to see for cancellations...this got me to the head of the line when i first got an appt...if you do get initial appt...it will probably be another couple of weeks for testing...

[mystBP]

have you looked at dystonia?
im only saying this because i have a close friend who has dystonia and alot of your little girls movements sound similar to what she has.
with dystonia u can have the random muscle jerks and twitches and loss of function but you can have it with or without pain.
have a read up cos if you kno quite abit about vaarious posible conditions when you see the doc you can sugest stuff he prob hasnt thought of.

[jlcarey]

Thanks for the advice!  We did get her in a bit earlier to the neuro., we found out what she has is Sydenham's Chorea.  They put her on fluphenazine and it helped so much at first, then it kinda plateaued, so the neuro. upped her dose, and after that things went downhill pretty quickly, so she went back and they said that basically she had been overmedicated, so he gave her another medicine to counter the bad effects of the fluphenazine, and she will start back on the fluphenazine tomorrow, so hopefully it clears up completely soon and she can go back to school and her friends.  Thanks again for the concern and the great advice!

[jlcarey]

Update: Megan is doing 100% better now!  She is on 3 different medications, one of which is Penicillin and she will be on that AT LEAST until she is 21, if not much longer.  Other than that, all of the choreatic symptoms have disappeared, and she is smiling and happy again.  We had a pretty rough couple of months there, but are so happy it was such an easy fix.  We know how much worse it could have been and are so grateful that they knew right away what was wrong and exactly how to treat it.  Turns out our Children's hospital here in Cincy has a movement disorder research clinic, so we have specialists right here in our backyard!  They diagnosed her within 3 days of her first visit!  Thanks for the suggestions, I really appreciate it, they definitely helped me to find the info I needed, and because of the suggestion of dystonia, I found the chorea (via wemove.org, a movement disorder forum and informational site), and so going in we had a pretty good idea that it was some form of chorea.  Turns out she must have been exposed to the strep throat virus sometime last summer and that was what caused it, hence the reason for the penicillin, to prevent any chance of her contracting strep throat, as that would cause the chorea again and possibly wouldn't go away next time.  Well, again, thanks for the suggestions and support!  We are so happy she is all better now!