Anyone had a neuromuscular workup for their child?

[lego_mom]

We had one last year and the dr. did not find anything, but it looks like we will be sent back for further testing.  I am just wondering  what kind of things the dr. can diagnosis and what type of tests they usualy run?  Last time they did not run any new tests but my son has had a lot of testing done already and the dr. reviewed all of his results with us and decided that he did not need any new tests at that time.  The appointment is with a neurologist that specializes in neuromuscular disorders in children.

Any advice from someone that has been through this would be greatly appreciated.  My son is a former premie with a host of (so far) non major medical issues including dev delays and motor planning issues and probably cp.

Thanks,

Jessica.

[Guestmama123]

Just subbing because my DS might be getting one, too.

[MotherWhimsey]

My son has had many and was diagnosed with Mitochondrial Disease. I'll give you a basic run down of how it went once we went to the neuromuscular clinic instead of just regular neurology.

They did the physical exam first and found abnormalities so they drew a CK (checks for some neuromuscular diseases like duchenne muscular dystrophy) and some other labs and scheduled an EMG.

He had the EMG (which was a short but miserable test). That tests the nerve conductivity to see if there is an issue with the nerves instead of the actual muscle tissue. Then they do a "listening" portion of the test and try to hear any abnormalities in the muscle. In my son's case, that portion was abnormal so they knew that if they did a biopsy they could probably see why. That was down the road though, but at that point they had confirmed that he had something neuromuscular.

Once they did that they tested for a ton of things like SMA and anything else that his pattern of presentation fit. Those all came back normal. After basically testing for the most common and most likely diseases they still hadn't found anything so we moved on to a muscle biopsy. He had that done around 18 months and that came back positive for Mito.

If you have any specific questions I'm more than happy to answer them if I can.

[dbsam]

My son’s testing might not be the norm.  With my son, we knew he had mild CP but were afraid there was something else going on.  He was also a preemie and had a very violent delivery resulting in a brain bleed.  He was delayed physically and has a lot of lower body pain but had/has no other delays. He had been seeing the same nuero since 6mo and at age three we did more testing.  Like MotherWhimsey's son, they tested his CPK levels because originally they thought it was DMD.  When that was fine, they went directly to genetic testing.  The genetic tests came back with a variance and they stopped all further testing.  However, we went to two additional neuros who were surprised the original neuros jumped directly to the genetic testing and said they w/h done a NCV test, EMG, and MRI.  We did do a very limited NCV test, had a more complete physical exam, and a brain CT with the second and third neuros. 

[my3peanuts]

My son had a neuromuscular workup and ultimately we came to a diagnosis of a Mitochondrial Disease.

[carrotsprout]

our routine was similar.  only the muscle biopsy brought more questions instead of answers.  mitochondria were normal, sarcoplasmic lysosomes not.  i have mixed feelings about the muscle bx.  the recovery was very very difficult.  she had to use a walker for a few weeks.  probably just mama guilt.  if i had it to do over again, i would probably do the same thing.

the current target of investigation is peroxisomes work-up.  i don't think i spelled that right.

we are going back to neurology sometime this week...i'm sure we'll have more neuromuscular testing.

so this is my two cents:

think about the what ifs on these three extremes before deciding to go further with the search--

what if it was the missing piece that made everything fit?  how might it change your lives?

what if it shows nothing?  how will you feel if after all that, you have to accept "idiopathic" for a time?

and, what if it shows something, but not quite what they thought, and more testing is encouraged?  how are you going to deal with that news.

with those being three possible outcomes--now consider what yes, no, and later mean to each one.

i often think about these on the drive and in the waiting room right before appointments.

good luck :)

Originally Posted by MotherWhimsey 

My son has had many and was diagnosed with Mitochondrial Disease. I'll give you a basic run down of how it went once we went to the neuromuscular clinic instead of just regular neurology.

They did the physical exam first and found abnormalities so they drew a CK (checks for some neuromuscular diseases like duchenne muscular dystrophy) and some other labs and scheduled an EMG.

He had the EMG (which was a short but miserable test). That tests the nerve conductivity to see if there is an issue with the nerves instead of the actual muscle tissue. Then they do a "listening" portion of the test and try to hear any abnormalities in the muscle. In my son's case, that portion was abnormal so they knew that if they did a biopsy they could probably see why. That was down the road though, but at that point they had confirmed that he had something neuromuscular.

Once they did that they tested for a ton of things like SMA and anything else that his pattern of presentation fit. Those all came back normal. After basically testing for the most common and most likely diseases they still hadn't found anything so we moved on to a muscle biopsy. He had that done around 18 months and that came back positive for Mito.

If you have any specific questions I'm more than happy to answer them if I can.

[MotherWhimsey]

See, for us the muscle biopsy was easy. He had it done on his right thigh and they gave him a spinal and heavily sedated him (or tried to at least). When the spinal wore off, he got up and was walking on it immediately and never asked about it or said it hurt or anything at all. He has abnormal sensation though and doesn't feel much pain so that could be why it wasn't a big deal for him.

Even though it was easy for us, I'd still ask yourself what you'd gain before doing it. If it's just to know, you might not need that... or maybe you do. But there's plenty more testing before you get to that point anyway.

[carrotsprout]

i'm glad it was easy for you guys!  honestly, that seems to be the norm.  we expected it to be not so big of a deal.

my daughter just did not do well with it at all.  her weakness was so extreme afterward.  we should have been able to leave the hospital almost right away but it took four days.  i thought she was just scared of it hurting and reluctant until the physical therapist came to help.  within ten minutes she told me she was just very weak.  she called the neuro and they did a team consult to figure out a plan.  we had to do pt with a sheet for 2 days before she could bend her own leg.  i've also noticed since then that it takes a long time to get reflexes from her legs.  however, it may have been like that already. 

on the fourth day post op, we flew home.  the doctor still wrote us a rx preventing her from walking through the scanner at the airport.  at that point she was still not reliable to even stand at a walker on her own.

she was 9 years old at the time.  it would have been really hard if she were bigger.  at just under 60 lbs it wasn't impossible to carry her when i had to.   

[dbsam]

 
Our exerience was different in that our neuro told us it was a big deal; one of the reasons they decided to do other testing before subjecting my son to the muscle biopsy and full NCV test.  We were also trying to avoid putting my son under and with the tests we did he was able to stay awake. 
 

Originally Posted by carrotsprout 

i'm glad it was easy for you guys!  honestly, that seems to be the norm.  we expected it to be not so big of a all.

[carrotsprout]

i really should clarify--we waited for four years into the search to do the muscle bx.  i just kept thinking it was a fluke.  and another fluke.  and another fluke...

i knew the bx was something to be avoided because it was surgery.  what i didn't know is she would be unable to stand on her own for two weeks.  i expected her to be mostly back to her normal within a couple of weeks.  instead, at two weeks, she was just making it to where i thought she would have been the day of surgery.

because i had only read about parents who said their dc did great, or their dc had a rough few days, i didn't expect what happened.  the involved dr's told me it could be tough, but they say that about everything.  they said about other procedures, which were really far easier than i could have hoped for.

Originally Posted by dbsam 

 
Our exerience was different in that our neuro told us it was a big deal; one of the reasons they decided to do other testing before subjecting my son to the muscle biopsy and full NCV test.  We were also trying to avoid putting my son under and with the tests we did he was able to stay awake. 
 

Originally Posted by carrotsprout 

i'm glad it was easy for you guys!  honestly, that seems to be the norm.  we expected it to be not so big of a all.

[dbsam]

I should clarify my post too.  I didn't mean that you did the test lightly.  I was just trying to say that our neuro warned us of experiences like yours.   Our next step w/h/b a bx too.
 

Originally Posted by carrotsprout 

i really should clarify--we waited for four years into the search to do the muscle bx.  i just kept thinking it was a fluke.  and another fluke.  and another fluke...

i knew the bx was something to be avoided because it was surgery.  what i didn't know is she would be unable to stand on her own for two weeks.  i expected her to be mostly back to her normal within a couple of weeks.  instead, at two weeks, she was just making it to where i thought she would have been the day of surgery.

because i had only read about parents who said their dc did great, or their dc had a rough few days, i didn't expect what happened.  the involved dr's told me it could be tough, but they say that about everything.  they said about other procedures, which were really far easier than i could have hoped for.

Originally Posted by dbsam 

 
Our exerience was different in that our neuro told us it was a big deal; one of the reasons they decided to do other testing before subjecting my son to the muscle biopsy and full NCV test.  We were also trying to avoid putting my son under and with the tests we did he was able to stay awake. 
 

Originally Posted by carrotsprout 

i'm glad it was easy for you guys!  honestly, that seems to be the norm.  we expected it to be not so big of a all.

 

[carrotsprout]

lego mom--in my experience the repeat procedures are often more than just a repeat.  just because the dr didn't "find anything" doesn't mean the same doctor won't find something this time.

are you planning on going back to the same specialist?  again, just my experience, if you are uncomfortable with the dr. move on.  however, if you liked the dr i would strongly encourage sticking with the same one ESPECIALLY a nueromuscular work up where the least invasive tests are also subjective.  for instance, let's look at the romberg test...what one doctor sees as "slight swaying" another dr may see as "moderate swaying."  even though their evaluation of your son's swaying doesn't change what is...the inconsistent labeling can lead to either a false alarm or a false reassurance that a progressive process is not progressive.

which brings me back to what i mean about repeat procedures are more than just the same test again. 

one more thing. not finding anything requires clarification.  did they find nothing?  or did they find nothing that lead to a diagnosis?

if i could change one thing about how i managed my end of this experience that would be it.  please be careful when tempted to report "they found nothing" unless you read the original report.  i think we were three or four years into it when i realized i made this huge mistake.  granted,  your pediatrician should make sure your son's specialists get the data they need from other specialists.  at least in our world, that only happens.  every specialist we have ever seen has asked me what another dr said about (fill in the blank).  several years ago i would have answered with "nothing" but today i may say "moderate bilateral distal weakness, a year ago we were still at mild.  however, we don't have a cause yet"  you don't have to know everything on the report. you just have to know enough to make sure the previous exam was not in vain.  that way the dr knows to read it carefully.

good luck lego-mom :)

and hank you dbsam.  the bx was only 6 months ago and i still have a lot of guilt about it.  what i need to keep in mind is we waited a long time and we went in order from least invasive to that.

Originally Posted by dbsam 

I should clarify my post too.  I didn't mean that you did the test lightly.  I was just trying to say that our neuro warned us of experiences like yours.   Our next step w/h/b a bx too.
 

Originally Posted by carrotsprout 

i really should clarify--we waited for four years into the search to do the muscle bx.  i just kept thinking it was a fluke.  and another fluke.  and another fluke...

i knew the bx was something to be avoided because it was surgery.  what i didn't know is she would be unable to stand on her own for two weeks.  i expected her to be mostly back to her normal within a couple of weeks.  instead, at two weeks, she was just making it to where i thought she would have been the day of surgery.

because i had only read about parents who said their dc did great, or their dc had a rough few days, i didn't expect what happened.  the involved dr's told me it could be tough, but they say that about everything.  they said about other procedures, which were really far easier than i could have hoped for.

Originally Posted by dbsam 

 
Our exerience was different in that our neuro told us it was a big deal; one of the reasons they decided to do other testing before subjecting my son to the muscle biopsy and full NCV test.  We were also trying to avoid putting my son under and with the tests we did he was able to stay awake. 
 

Originally Posted by carrotsprout 

i'm glad it was easy for you guys!  honestly, that seems to be the norm.  we expected it to be not so big of a all.