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Hypotonia in children

post #1 of 88
Thread Starter 
This is a long post that I hope will lead to discussion among others who are dealing with a diagnosis of hypotonia.

Ds was recently diagnosed with pervasive hypotonia. To fit a long story into one sentence, I had him evaluated as a toddler (motor delayed but not enough to get services), and again as a 4 year old (pt thought he was just weak from a recent heart surgery) and each year I brought up motor skill concerns at every check up--the issue was always blamed (by the doctor) on ds not wanting to be a very active, outdoors-y child. This answer was never good enough for me, but I let it go, encouraged more outdoor activities, and when ds still displayed hypotonic behaviors, I finally decided to force his new doctor into a referral for a pt evaluation.

The new pt was stunned by this past history. Her swift and accurate diagnosis was pervasive hypotonia and a host of hypotonia-related problems (pronation of the ankles, postural orientation problems, etc.). She was frankly amazed that ds has displayed hypotonia for so long, in the presence of so many doctors, with me *saying* something seemed wrong, and not a single one made an accurate diagnosis. I don't think she was surprised, just amazed, as doctors are infamous for bungling this kind of diagnosis.

Anyway, now that we have the diagnosis, and ds is getting weekly physical therapy, I am trying to better understand this condition.

Hypotonia in infants is well documented, and ds had all the classic signs--all of his motor skills were very delayed, from holding up his head to walking. He was always floppy, never clung to you when carried, had a slouched posture, and was also a very, very poor nurser, with an unbelievably weak latch. I *knew* something was off, pointed this out to everyone at the time, but it was always brushed aside by doctors as ds' heart condition demanded their attention.

There is less said about hypotonic older children. The symptoms now are subtle but quite pervasive. Ds is physically incapable of moving at the speed of other children. He can get there--eventually--but he goes pretty slow at any gross motor activity. He cannot, and I must emphaise cannot, be rushed or hurried without disastrous results. Hurrying gross motor activities of any sort leads to panic, tripping, falling, confusion, total frustration etc.

Good posture is difficult.

His joints are hyper flexible--if he extends his arm fully, it keeps going past the straight point and bends in the other direction. He could (but is forbidden as it is bad for the joint), turn his ankle around practically sideways (yes he totally freaked me out the first time he did this!).

He uses his eyes to compensate for instinct--he watches his feet and hands when climbing a ladder, for example, to know where to place them, and must train his brain through repetition, rather than instinctive assessment, when learning competency at a new skill (such as navigating unfamiliar styles of stairways, or walking a narrow ledge). He can't just do these things quickly from the start--he has to go slowly, practice, and eventually, the skill becomes a habit.

Mainly, ds has compensating by becoming a highly verbal, intellectual person. He loves conversation, discussion of any kind, board games, computer games, anything that can be done at the table. He also loves slow paced walking and hiking, and was born the best traveller on the planet. He has a zest for going somewhere new, and with his very active mind, is almost never bored.

With other children ds will volunteer to be "the announcer" or "the referee" or "scorekeeper" if a group decides on a fast paced game. He did this naturally from an early age, knowing he could not keep up with running or moving quickly. I suppose this is a great era in which to be a hypotonic child, as ds has no problem making friends with sit-down activities like yu-gi-oh, Wii, Manga, you name it.

I have read that hypotonia is sometimes classified as a form of non-degenerative muscular dystrophy. Has anyone heard this description? It does fit, as ds simply cannot do more than he does, without habit, practice, and routine to replace the instinctive coordination and skills children naturally possess.

This is an excerpt from the excellent website linked below:

Quote:
For the child with BCH, “every movement is a fight against gravity” (Brown, 1998). While other children are reaching out for toys and exploring their environment, the hypotonic child is struggling to maintain his position. As a result of this struggle, development is delayed for the child with BCH. Parents carry the child with BCH like a young infant and lay the child flat for dressing. As a result, the hypotonic child becomes a passive onlooker. The child with BCH also talks late due to facial muscle weakness. Nonverbal communication is frequently limited which is interpreted as low cognitive ability.
http://www.lightlink.com/vulcan/benign/
post #2 of 88
I'm sorry it took you so long to get someone to pay attention.

I have heard of Hypotonia as being classified as a form of Muscular Dystrophy. Is your son healthy otherwise? I ask because I tend to believe Hypotonia is not really a diagnosis but more of a symptom of another issue. Whether that be something like Muscular Dystrophy or another Myopathy, Metabolic Disorders, etc.
post #3 of 88
My DD is also hypotonic and at 5.5 I FINALLY got a doctor to WRITE it on something (as if that makes it real or something but for me, emotionally, I needed that validation). It's been frustrating. She has so many other things going on, I know people don't feel that this mere symptom (do you hear my sarcasm?) is that important. But it impacts SO much in her life - it's crucial to me to have it addressed.

Her latest dev ped says that he thinks hypotonia goes undiagnosed because lots of kids can "pull it together" or stiffen their muscles enough during an exam that things appear normal or at least only very mild. It's when he watches a child that doesn't realize they are being examined that he sees them in true "resting" mode and sees the hypotonic tendencies.

I can relate so much to what you are saying. Haley is not SEVERELY hypotonic but her resting tone is pretty low and everything she does takes so much effort! She does have multiple neurological conditions - her balance and coordination are poor. But she's also just, well, weak. Her motor planning isn't very good, too. She can't walk any distance worth mentioning without becoming so exhausted. She gets so tired just sitting up and trying to attend to anything. She also can't be rushed or she falls apart. She still often has an open mouth and shallow/labored breathing whenever she puts forth any kind of effort.

She's also a great traveler and is very, very verbal. She only learns motor skills through repetition AFTER you actually make her body do what you want it to do. She generally cannot just watch something and then imitate it. That's why we finally dropped out of gymnastics.

My biggest concern is how she'll manage a long school day. She just cannot possibly do it. I'm planning to fight for a shortened day. How does your son manage his school day?
post #4 of 88
Let's see where to start...

My ds is currently 3 years old and was dx with Benign Congential Hypotonia when he was about 9mos.

All of his motor skills were and still are delayed... Held his head up late, sat up late, walked late. He is and has always been very weak, he appears to not be b/c he is a big kid in stature but he is VERY weak. He has always tired easily, a 20min therapy session would put him into a 2-3 hr nap.

His joints are hyperflexible I too can turn his feet pretty much completely facing behind him, same with his knees and elbows. His hands can almost touch his forearm when they are pushed back. He also has flat feet and walks on the insides of his feet (he wears orthotics for this)

Ds has very poor balance compared to other children his age, he has a hard time climbing over things, jumping ect. He likes to play at the playground but things are more difficult for him there. My ds is also cognitively delayed.

Ds's neurologist has run numerous tests and so far hasn't come up with anything specific. He said that BCH can be JUST a dx but I am not convinced, I think there MAY be something more underlying than that.
post #5 of 88
Linden has hypotonia. He has the most trouble with central hypotonia though. His abdomen pokes out like he's pregnant cause his muscles are too weak to hold it all in. He has started walking, but even with DAFO's he still collapses a lot and gets really tired. But his hypotonia is listed as a symptom, not a diagnosis. I don't know if that makes a difference at all or not.
post #6 of 88
I figured I'd chime in since you mentioned hypotonia in older children. Dd is 7, and generalized hypotonia is among her many diagnoses (she has an underlying syndrome). For her, the hypotonia has caused a lot of issues and I suspect will continue to do so. Like you mentioned, she cannot keep up with other children, even if she really, really tried. Add in her vision loss, and I'm sure you can imagine that going to the playground is an exhausting experience for her.

We are a family who loves to hike and take long nature walks. Dd can't keep up a pace that satisfies the older kids, and so those kinds of outings can be torture for everyone -- dd feels badly, the older kids get cranky, dh or I end up carrying dd, and then the day goes downhill from there

Walking with dd is a bit like walking with a person whose had a few too many, iykwim. She sort of walks quickly, then shuffles a bit while pulling/yanking on my arm, then speeds up or walks in this kind of hunched over quick-walk.

Like one of the pp's mentioned, dd's hypotonia is frequently dismissed as being "less important" than her other issues. But it impacts so much of her life that I think that does a disservice to her. We are blessed with a wonderful PT who has been working with her through the school for several years, and I LOVE her. She totally gets dd, gets what keeps her motivated, and pushes her just enough to see some real gains.
post #7 of 88
Andrew is four and has had hypotonia from birth. He was in PT by 6 months for missing milestones but as long as he was in PT he met most of them, though on the late side. He was really slow to do some later skills though after we ended PT. In what you described I'd wonder about motor planning too which can go along with hypotonia.

But in general I will say that hypotonia is a symptom of something else. In our case it is metabolic--though we didn't know until my son was 3.5. He had other symptoms too.
post #8 of 88
Carter is 5 yrs 10 mos and BCH was his very first dx at 8 mos. He also has distinct right sided weakness and hyper-flexibility.

It's paradoxical, but DS looks stiff to most people now because he holds himself rigid to compensate for his tone. He can usually keep up with his friends for awhile, but he gets tired much faster. I'm lucky that he's small for his age and I can still put him in a stroller. I keep him home from school on field trip days because he gets too tired, and at least twice a week at school he goes over to the nurse's office after lunch to lay down for awhile.

I would describe Carter as almost anything BUT passive, though. He's a fighter, even if he can barely stay awake for it. Sometimes I suspect that his hyperactivity is at least a little related to his hypotonia, like he has to get really wound up to compensate KWIM? But he really does a number on himself. He gets himself so exhausted trying to keep up with the more average kids and will actually get to the point where he's hysterical and vomiting because he hits a wall.

Somebody mentioned a shortened school day and we're considering doing that for next year. Shouldn't be a problem because Carter's developmental pediatrician is very willing to get really bossy with the school if he needs to. Who knows where we'll be by the end of the summer when he goes back. Plenty of time to decide then.
post #9 of 88
I've got a referee, scorekeeper, etc. kid too. It is amazing how well kids figure out what works for them.

The one thing I want to toss out is that really hypotonia is not much of a definitive diagnosis. To me it is akin to saying dizzy or headache. There can be lots of reasons why a person has hypotonia and if the hypotonia is severe there probably should be some efforts put into investigating why - is it brain based or muscle based? Are we positive it isn't progressive? Is there any possibility that there may be some additional help for that? Is there the possibility of a mitochondrial or other genetic problem? It bothers me when it is just decided a kid has hypotonia so there is no need for further investigation and that is what happened to our kid early on. He's older now and we are looking more at mitochondrial problems as a possibility.
post #10 of 88
Thread Starter 
I just want to say I am awed by this thread already. I will have more time to respond later. THANK YOU all so much for describing your older hypotonic children. I see a lot of symptoms that ds has which I forgot to mention.

I am intrigued by the idea of an underlying disorder. I feel scared just thinking of that

Ds was also born with other, more demanding problems. I wonder if this all adds up to something? I will post more later!
post #11 of 88
DS is just about 3 1/2, and is hypotonic due to CP. I totally agree about not rushing. DS melts down and slaps me if I try to hurry him. I thought it was more of a sensory thing, but it makes sense that it would be tone related. He has a host of delays, but he certainly can't play like his peers. He, too, has compensated by being very sweet and friendly, so that people don't notice/forget that he's not like other kids.

post #12 of 88
DS2s tone is variable, he tends more toward high tone, but at the same time some places tone is low. He keeps his facial muscles drawn in at a pucker, and can't smile. (It is possible that he is overusing some muscles to make up for weakness in others.) This discussion is interesting to me, cause I think I have a mild form of hypotonia and always have had. I was thinking it was a form of SPD. Things like riding a bike were very difficult for me to learn. Horseback riding is more natural since my body takes cues from the horse. I'm naturally flexible. Since physical activity is so demanding, I tend to conserve energy and have a slower metabolism as a result. Like your child heartmama, I put alot of energy into verbal and intellectual development. As a child I also looked for ways to get out of physically demanding games, because I couldn't keep up. I'm starting to wonder myself if there isn't more to the children who are just labeled "not athletic". I was saying something to my mom the other day about what ds is not doing, and she said "well, you didn't do much yourself - you talked early, but that's the only thing." I guess I never knew that - there aren't alot of pictures of me as a baby.
post #13 of 88
my ds#3 is hypotonic. it's not so obvious anymore, and they've dropped him from physical therapy ( : ) but i still see it. he's always been prone to tripping and stumbling over apparently nothing. he was a poor nurser, to the point where he wasn't gaining weight b/c he couldn't latch well or for long, and, sadly, i let the dr's and WIC push me to give him formula rather than doing any serious pumping so he was weaned by 4 months old. if i knew then what i know now.... but that's another thread!

i'll post more another time, when i can focus better!
post #14 of 88
I'm coming out of lurkdom to respond to this interesting thread.

My DD (17 months) is a bit of a mystery baby- suffered a full on regression of all motor skills at 6 months and has sloooowly gained, but remains severely delayed (can't sit up, crawl, fed by g-tube, etc. ) We have done an absolute poopload of diagnostic testing, the most recently being a muscle biopsy, but so far everything's coming back normal.

She's been labeled with central hypotonia and developmental delay. Its never even occured to me that hypotonia could be a diagnosis in and of itself. Very interesting!

Anyone out there with an older hypotonic kiddo who eventually learned to walk after super-delayed sitting? I keep reading that kids who don't sit by two generally don't learn to walk. I hope she's sitting by then, but that birthday's just kind of hanging out there like a dark cloud.
post #15 of 88
Quote:
Originally Posted by coreybreeze View Post
I'm coming out of lurkdom to respond to this interesting thread.

My DD (17 months) is a bit of a mystery baby- suffered a full on regression of all motor skills at 6 months and has sloooowly gained, but remains severely delayed (can't sit up, crawl, fed by g-tube, etc. ) We have done an absolute poopload of diagnostic testing, the most recently being a muscle biopsy, but so far everything's coming back normal.

She's been labeled with central hypotonia and developmental delay. Its never even occured to me that hypotonia could be a diagnosis in and of itself. Very interesting!

Anyone out there with an older hypotonic kiddo who eventually learned to walk after super-delayed sitting? I keep reading that kids who don't sit by two generally don't learn to walk. I hope she's sitting by then, but that birthday's just kind of hanging out there like a dark cloud.

There is a good hypotonia board on Ivillage that you might be interested in checking out.
post #16 of 88
Quote:
Originally Posted by coreybreeze View Post
My DD (17 months) is a bit of a mystery baby- suffered a full on regression of all motor skills at 6 months and has sloooowly gained, but remains severely delayed (can't sit up, crawl, fed by g-tube, etc. ) We have done an absolute poopload of diagnostic testing, the most recently being a muscle biopsy, but so far everything's coming back normal.
Was the muscle biopsy for mitochondrial disorder? Where did you have it done?

Our geneticist and many others would say that hypotonia is never a primary diagnosis--just that sometimes technology hasn't yet found the cause. With regression like you describe metabolics seems likely. It sounds like she's had a full work up though. I'd love to know who your specialist is and if you're happy.
post #17 of 88
Thread Starter 
Coreybreeze--are you saying that your baby was developmentally typical, and then at 6 months suffered a total regression?

From what I am reading, congenital hypotonia begins at birth. The baby always seems floppy, slow to reach milestones, a weak latch with nursing etc.

I am so sorry you are going through this mystery That has to be so frustrating.
post #18 of 88
The Ivillage hypotonia board looks interesting... I'm going to check it out.

The muscle biopsy was for suspected mitochondrial disorder... from what I understand, there's only a 70% chance of finding it if there is one with the biopsy. We had it done at Children's Hospital in Seattle. We're doing all of our work-ups done there and have had several inpatient stays. We have been frustrated with the lack of answers, but absolutely thrilled at the quality of care she has received. We're seeing folks in Neurodevelopmental and Biochemical Genetics.

To answer your question, heartmama (sorry, still figuring out how to do the quote thing), Libby was, as far as we know, perfectly normally developing until 6 months. At that time, I fell down the stairs while I was holding her. I took her to the ER numerous times, and kept being sent home. To make a REALLY REALLY long story short, we finally took her to another hospital and found out she had a broken jaw. She had become really dehydrated during those few days, and that's when she suffered the big regression.

Her regression isn't progressive though. She continues to make gains, albeit very small ones. We're grateful for that. So no, she doesn't have congenital hypotonia, its just low tone in her trunk and mouth region.

I don't mean to hijack here, but if anyone's up for a little sleuthing or is just curious about Libby, you can read her caringbridge site at www.caringbridge.org/visit/libbymitchell
post #19 of 88
This has metabolic markers all over it but I know you know that. And in that area/hoping it isn't one of the metabolic issues it's encouraging that she's not had any further regression. But in reading that it just fits the profile to me and I don't know what else would given the tests she had then coming back "clean". Gosh, reading your story is so hard--just imagining that experience.

Can you tell me what metabolic tests she's had, under what conditions (fasting, illness, etc.) and if there were any abnormal values at all? You can pm me if you don't want to share it. It does make you wonder if there is something mito that didn't show up in that biospy. Has there been any discussion of doing DNA analysis for mito? Did she ever have skin biopsy?
post #20 of 88
Quote:
Originally Posted by sbgrace View Post
This has metabolic markers all over it but I know you know that. And in that area/hoping it isn't one of the metabolic issues it's encouraging that she's not had any further regression. But in reading that it just fits the profile to me and I don't know what else would given the tests she had then coming back "clean". Gosh, reading your story is so hard--just imagining that experience.

Can you tell me what metabolic tests she's had, under what conditions (fasting, illness, etc.) and if there were any abnormal values at all? You can pm me if you don't want to share it. It does make you wonder if there is something mito that didn't show up in that biospy. Has there been any discussion of doing DNA analysis for mito? Did she ever have skin biopsy?

Oh sbgrace, thank you for understanding! She's had a full blown metabolic workup done quite a few times during "normal" times as well as during illness. Not during fasting, though... I can't believe I haven't thought of that considering the major "event" happened after a period of long term fasting. We've got a follow-up in Seattle in a few weeks, I am definitely going to bring that up. She's had the mDNA analysis, lots of specific genetic testing (like for angleman's, rett's, prader-willi, fragile X, etc etc ETC!) but not a skin biopsy. I think I'm going to push for a lumbar puncture to test CSF, although that doesn't sound fun. I think a EMG might be helpful too... again, I don't like the thought of all this icky invasive testing.

Sorry, I'm bouncing around here, my brain's a bit fried today, but my husband and I were just talking again today about what a shame it was that they didn't do some basic metabolic testing when she presented to the ER (when we finally found out about the broken jaw and she was so so sick). They did some basic blood work, and the only thing that was way wacky was her CO2 level, which was 9. Since then, she's never had a normal co2 level, its always pretty low. And she almost always comes back with an elevated anion gap.

She's our little mystery girl, but she brings us so much joy! Thanks for letting me ramble, everyone!
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