My son, Tyler, has hypotonia and we don't know the cause yet. It's torture, not knowing. I do know that hypotonia is a symtom and not a diagnosis which means, there is a reason they have hypotonia. We went to the hypotonia center at Johns Hopkins on Aug. 10. Their goal is to find the underlying cause of the hypotonia. They are running lots of tests and we may have an answer soon. They are amazing there...caring and supportive. They told me that when a child has hypotonia it is either that there is a muscle disease or a disconnect between the brain and the muscles and that the signals that the brain sends to the muscles doesn't work quite right. Tyler's hypotonia is the brain/muscle disconnect....it's nice to know that. They were able to tell me that the day they saw him. Good luck, keep me posted.

Thanks for your reply Tylersparents. That is awesome that you have such a wonderful resource close to you!! We had to travel 90 miles just to go to the closest pediatric neurologist. How were they able to tell that Tyler's is the brain/muscle disconnect? We had 2 MRIs done (brain & lumbar), which were normal. All of the metabolic/genetic bloodwork was also normal. I'm not sure we will ever have an answer at this point. It's just frustrating that he won't walk (he is 21 months). Is your son walking?
I'm thinking if there is a medical reason for Luke's, it is probably a muscle disease. I really don't want to do the muscle biopsy though.
Good luck with Tyler:) Let me know how his tests go!!

Thanks!

hi tylersparents

my son's hypotonia is also a brain/muscle disconnect. was just wondering if there was anything in particular that you found particularly useful regarding his therapy. my son does ot and pt once a week (increasing it soon)... hoping for some supportive feedback as well as realistic i guess, as to what i can kinda expect ( i know every child is different but trends do follow)..
my son is 13 months and not walking or crawling..he recently was able to bear some weight when hes on his all fours, and is tolerating his tummy much more...still sitting supported though... thanks

My daughter was born with the hypotonia. We have yet to have a diagnosis but thanks to Tyler's parents telling his story we were able to also make an appointment at John Hopkins in Oct. PT and OT has really made alot of difference. But I am still scared. What does the brain/muscle disconnect mean? Our neurologist doesn't think her's is muscular. Keep me posted with his progress.

hi, my daughter is hypotonic in her trunk and hypertonic in her legs and arms, with some spasticity (tightness). we think she has mild cerebral palsy, which is a neurological symptom, but we still don't really know what's going on yet. going to a new neurologist tomorrow, hopefully they'll be able to add some info. we almost did an EMG test to determine muscle/brain issue, but chickened out after hearing some scary stories. still trying to stay optimistic and hope that maybe she'll just grow out of this. but with a bit of a speech delay going on too now, i'm worried that it might be a bigger issue.

My daughter, Colbie, is 19 months old and was "diagnosed" with Hypotonia at 6 months old. She also has microcephely (small head) which was acquired (dropped down to 3-5% around 6 months). We have been through a lot of testing to find the cause of her hypotonia. She has had 2 MRI's (looking at physical structure), and MRI spectroscopy (chemical makeup of brain), EMG (reading of muscle activity), and extensive chromosomal testing...everything came back typical/normal. The neurologist seems to think, after tesing for everything he can think of, that her hypotonia has to do with the networking in her brain (which can't be seen on any test). So basically her muscles are not getting the messages needed. With her being so young, all her therapies (PT, OT, developmental specialist, speech) should help make those connections in her brain. She has improved through therapy... she is now sitting with minimal support, rolling from back to belly (not belly to back), and not yet crawling or walking. We are working on that in PT though. How are your children developing congnitively? Colbie does not know her name and she does not know "No".

Glad to hear the great PT stories. My daughter has a myelination problem in her brain. I believe this was compounded by the fact that I was breastfeeding & did not know I have celiac disease, so she wasn't getting her vitamins (celiac caused vitamin deficiency in me). When we switched to pediasure her hair started growing, and so did she. She had stopped rolling over and now can roll again almost all the way from back to belly (arm gets stuck) and belly to back. She is almost 30 months old and can't sit up. We have had an incredible amount of tests, and one doctor thinks she has some unknown leukodystrophy, while the others have no idea. My daughter has great doctors, but one of the best things we did was take her around to the more well known doctors. She has seen Dr. Vanderver in DC and Dr. Koenig in Houston. Others I have heard are great are Dr. Naidu in Baltimore, Dr. Natowicz in Cleveland, & Dr. Shoffner in Atlanta, & Mayo clinic. I'd probably try Dr. Koenig if it might be muscle and you need an answer.
My daughter is light years ahead of where she was since her diet change, but there's something else going on so we are going to look until we find out what that is. Good luck to you.

Also, we did the EMG during an MRI. No big deal. However, Dr. Koenig told us she really doesn't trust an emg if it isn't done by a neurologist. Good to know.

Hi, I've been these comments with interest. My daughter is now 5 and i haven't had a diagnosis/explanation of hypotonia, although from my own research she fits the bill! She can sit for short periods(a recent development) but is unable to stand unaided (she's been trying to pull herself up, mainly by using my hair!), and cannot yet talk. I know from MRI scan that she has Agenesis Corpus Collosum, but the neurologist has always been unclear as to whether her brain damage is the only reason she has such low muscle tone. She also has very wide-set eyes and a high pallet. After numerous genetic tests and scans, i'm still no closer to an answer.

I have been reading everyone's posts and am in the same boat. We have a beautiful little boy who is now 17 months old. He was diagnosed with a developmental delay and hypotonia at about 10 months. He has PT twice a week and OT once a week - he has improved, but it seems to be going slowly. We are getting ready to start with water therapy and have heard great things about it. One of our biggest concerns is that he seemed to regress, he rolled over on time and could sit up but now, he has to be propped to sit. So he is kind of relearning things he used to do!

We have had tons of blood work done, genetics testing, MRI, EEG and everything has come back normal. Our peditrician has said that hypotonoia is a nueormuscular disorder that is usually genetic but we are still waiting on an answer. We live in Florida and are making a trip to Gainesville to Shands hospital to see a neuromuscular specialist and are anticipating that they will want to do a muscle biopsy. I have talked to several mothers with children who have this disorder and the good news is, eventually - they get there! Every child is different but with diligence and hard work, they will catch up!

Good luck to us all :) !!!!!!

Hi I just found this group and could have written some of your posts! My daughter is 10 months today, delayed. We know she has hypotonia but do not know why. MRI and bloodwork done. She has GERD, had congenital exotropia that she's had 2 surgeries for, was tongue tied (had frenulectomy), has a high arched pallate, borderline microcephaly (dropped in %s at about 6 months), slightly dismorphic facial features...what else? She's receiving OT therapy at this time.

I'd not heard about the brain/muscle disconnection before.

Hi, My daughter will be 3 in June and is still not walking yet. She was born with hypotonia and has not had a diagnosis, although all her MRIs have come back normal. Here in the uk, they are called SWANs, Syndrome Without A Name!! She has physio and had a pony walker to get around in, She still has no speech so are starting to use some sign language and PECs which is picture exchange.

My son, Luke, is 2 years old and hasn't had a diagnosis as well. I agree with all those who say therapy helps, it has really helped Luke. But the progress is slow. I recently learned about John Hopkins as well, and suggest you look into it. I live 14 hours from there but was able to get some very helpful information over the phone. We are going to go to a genetics doctor that is closer to home first, who was recommended by John Hopkins, then we may go out East if we don't find answers with that. Even if you just look at John Hopkins' Hypotonia Center online, there is lots of info there I never knew.

i know that you are all parents who have kids with hypotonia, but i am a sixteen year old who has had it since birth. I have it everywhere in my pbody and not just in a certain location. We did all the tests possible since I lived very close to the Cincinnati Children's Hospital when I was younger and even though it was a great hospital with wonderful doctors who were able to help with my other conditions, no cause of the hypotonia was found for me. From when my parents found out i had hypotonia to the end of elementary school, I was in PT, OT, speech therapy, and writing therapy. They helped a ton and even though I don't know the underlying cause of my condition, I lead an almost normal life and love it! no one even knows I have hypotonia or notices anything unusual until I tell them! If you have any questions on what to expect or what it is like from the child's point of view, please let me know and i would be happy to answer them!

My daughter, Lisa, is 35 years old. We did not get a definitive diagnosis until she was 21 when she ha an MRI that showed a non-functioning spot in her cerebellum. This area controls muscle tone, fine motor and expressive language disorder.