Undiagnosed hypotonia

Jenilee - posted on 11/23/2008 ( 29 moms have responded )

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I have two beautiful little girls named Camryn,3, and Briana, 16 mths. Camryn is my special needs baby and the closest thing we have for a diagnosis is "Benign Congenital Hypotonia." Essentially, they're not sure...She is currently in PT, Ot ans we're just starting with an SLP. We have done genetic and neurological testing and haven't found the root cause of her hypotonia although the best guess we've had is that she lacked oxygen at birth (she had a very difficult birth.) She is an absolute joy to be around and we're looking to connect with other families to share our experiences and hopefully lear from others.

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my son has a leukodystrophy. he is six years old. we went through many years of testing to get this diagnosis. check out www.ulf.org

many of the posts on here remind me of my son's attributes that concerned us and the doctors. good luck to everyone

Dixie - posted on 01/18/2009

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Cincinnati Children's Hospital Dr. Wesstlekemper is wonderful!!!  My son has delayed meylination....he found it right away!!

Crystal - posted on 01/15/2009

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My daughter was given the diagnosis of hypotonia and I am not aware of any testing they did on her other than therapy testing for delays. I am wondering what testing needs to be done to determine CP? My daughter is non ambulatory and is 5 years old, but her therapists don't see many reasons why she couldn't be other than she doesn't have the strength yet and no motivation to get places on her own because she is also totally blind.

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Tracy - posted on 01/30/2012

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My son, Joshua, is 6 years old in 1st grade with hypotonia, we still have not found the cause but he too had a traumatic birth and lacked oxygen. I am trying to research possible links. Since your post in 2008 have you had any luck - can you suggest any exercises that worked for her?

Stephanie - posted on 01/21/2009

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Madeleine,



I am so sorry that your son has been in the hospital for so long - how difficult for you! When my baby was born (Feb. 08), he had a lot of fluid in his lungs (due to c-section - it's called transient tachypnea of newborn) and he did not struggle to compensate by breathing hard, so the doctors told us that they did not know if he was going ot survive. He had to be on oxygen for about 6 hours and then he started making the effort to maintain his oxygen level. Maybe the hypotonia prevents them from being able to breath when their lungs are compromised??? Just guessing. Please let us know how it turns out and I hope you get answers!

Madeleine - posted on 01/21/2009

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My 8mo old son was born with Benign Central Hypotonia. Like everyone else he was showing normal on all the testing as well as the genetic testing. We were told by the Neurologist that he will grow out of it. He has PT and ST once a week but then he got sick with the flu....I went to his crib on the morning of 12/14 to find him grey in color and bluish-purple lips and fingernails. When I picked him up it sounded like he had a lot of mucus in the back of his throat.

He was admitted on the 12/14 to the PICU with flu then in and out of the PICU with pneumonia twice. His CO2 levels were elevated and he has to be on oxygen to help him breathe.



He has been in the hospital over 35 days and I am getting desperate for answers. They are going to do another sleep study test on him to with a Bi-PAP machine and if that doesn’t help they are going to have to Trach him to get these CO2 levels down.

I am looking for support and answers to see if anyone has a Hypotonia baby that had to be Trached.

Stephanie - posted on 01/21/2009

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The only abnormality in the MRI was the Chiari Malformation (nothing was mentioned about the myelin, so maybe we can cross that off the list...?). We have plenty of follow-up tests coming our way...they need to rule out any other conditions before they can make a decision on whether to involve surgery for the chiari (and by the way, a week ago I had never heard of Chiari, either. Crazy how life can throw curve balls, huh?). Sorry about your son's diagnosis...and thanks for the explanation.

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my son's diagnosis came after mri's. it was very apparant that that his myelin was not normal. they had to bring in a neurologist from the netherlands to get a diagnosis for him. we live in cincinnati and are very, very fortunate to have access to cincinnati children's hospital. he is one of 15 people in the world that has the diagnosis of 4H syndrome. this type of leukodystrophy is so rare and newly found that there is very little information on it. we have not much of any idea on life expectancy. his cerebellum is heavily involved with the disease. i know that my son had elevated levels of CPK. jennifer - have you checked out the group on inspire.com? there are a lot of people on there and it can be really helpful. i actually ended up in contact with the mother of one of the other 14 people with my son's disorder through this site. lots of great people that have information and support for all of the leukodystrophys, especially MLD since it is one of the more common forms.

stephanie--i would ask the doctors if leukodystrophy is a possibility. were there any abnormalities with the myelin in the mri that was done? i am not familiar with Chiari Malformation?

good luck to you both....and everyone on here.

Jennifer - posted on 01/20/2009

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Erin, I and so sorry to hear of your sons diagnosis! My 6 yr old little girl was diagnosed with Metachromatic leukodystrophy in Feb. of 2008. It has been down hill since then, and we are getting ready to have a feeding tube put in. Are you a member of the MLD family? Where are you from? There arent many of us out there so when you do meet someone having the same experience, it makes you feel as if you arent alone in this fight. God Bless! keep in touch. Jennifer Mullen

Stephanie - posted on 01/20/2009

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Erin, what test finally found the leukodystrophy? I'm waiting on some follow-up tests due to a mildly elevated CPK level. Is CPK elevated in leukodystrophy? I know it is in the MD's..

Shar - posted on 01/19/2009

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Hi Jenilee, my daughter Aimee is now 20 (yep that does make me feel old, but not quite as much as her 21 year old brother!). Aimee's birth was very traumatic for both of us and I was aware of a problem right from the begining, although the medical staff were not. When Aimee was 10 weeks old a problem was picked up on and we were sent for exhaustive tests non of which were conclusive. She was, however, given the diagnosis of 'Unexplained hypotonia with a global developmental delay'. We moved from London to Northampton when Aimee was 13 months old and got a new Paediatrician who the diagnosed Cerebral Palsy. I truly believe that this was caused by lack of oxygen at birth but have never been able to prove this.



All that said the last 20 years have been very hard work but the most rewarding. Aimee's mental age is around the 18 month mark and she communicates through limited (very) speech and Makaton signing (limited) but she is so loving and giving.



Most of the posts I've read are by mothers of younger Special Needs children, but I feel I can help and truthfully say there is light at the end of the tunnel.

Geri - posted on 01/18/2009

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Hi Jenilee-

My daughter Camryn is my special needs cutie!! She is almost 11m old and is hypotonic in her core. She is microcephalic and her brain did not form as many folds as it should have. She also has bilateral hearing loss and is aided. It looks like it could be CMV that has lead to her issues. She has PT weekly and a D/H/H teacher that comes weekly too.

Dixie - posted on 01/18/2009

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Cincinnati Children's Hospital Dr. Wesstlekemper is wonderful!!!  My son has delayed meylination....he found it right away!!

Jennifer - posted on 01/18/2009

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Hi Dixie, my name is Jennifer. My 6 yr old daughter Cheyenne was diagnosed with a demylinating disease called Metachromatic Leukodystrophy. In her case the demylination continues, Iknow first hand how hard it is to watch your child go through this. My little girl will eventually loose her life to this, as there is no treatment or cure. My prayers go out to you, God bless!

Stephanie - posted on 01/17/2009

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I'm sorry to hear about the things your daughter has been through! It sounds like your docs are on top of it. CP would have shown up in an MRI  (I think).

Crystal - posted on 01/16/2009

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She has had multiple MRIs because of what caused all her issues...a brain tumor they resected at 8 months of age. She has a pediatric neurologist and many other doctors. They have not said anything about CP to me although nothing has been brought up about it. She has had bloodwork also...but I don't know what specific things they tried to look for other than calcium and vitamin D deficiency and sodium levels.

Stephanie - posted on 01/16/2009

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Crystal, to test for CP, I think she would need an MRI. Also, probably bloodwork to detect any muscular problems. If she is not able to walk it would be reasonable to see a pediatric neurologist and request this type of testing. My son has Chiari I Malformation which was diagnosed via MRI. His hypotonia is quite mild, but the possible complications of CM are important for us to be aware of. Good luck!

Stephanie - posted on 01/14/2009

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My update: we got the MRI/bloodwork results back to day regarding my 10 month old son't hypotonia. He has Chiari Malformation of the brain/spinal column. Also, his CPK levels were elevated, requiring further investigation (possible muscular dystrophy??). We will be meeting with a Neurosurgeon regarding treatment or surgery for the Chiari.



I really believed in my heart that nothing was wrong with my son. I was pretty floored today by the results, but I have summoned up the strength to continue down this path of more tests, treatments, etc...

Elisabeth - posted on 01/14/2009

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Hypotonia, unexplained and sezure disorder here.  They say the 2 are not connected but my husband and I suspect that its all due to birth trauma.  We also suspect that a CP diagnosis is in her future.  Its becoming clear now that in addition to the hypotonia and seziure disorder she also has motor planning issues.  We are on the hunt for anew Neuro doc because ours keeps blowing off the gross motor delays and problems. 

Kayla - posted on 01/14/2009

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Hi everyone, I'm new to this site. I have a 3 yr old dd who has Hypotonia, vision imparment, undxed siezure disorder, oral dysphagia, and global developmental delay. We have had all kinds of test ran since birth with no dx. all the genetic tests have been normal, only recently we have found out that her cerebelum is smaller than it should be. So they ran more test for deginatrive brain disorders and they were all normal. we have had 3 different genetists, neuro's and developmental ped. all have been puzzled by my catie girl. She is crawling now, and stands up in front of the couch. and she can climb like a monkey. She has no speech, and only a few signs( more, eat, cup). but she is a happy little girl and still is making progress, so we are blessed with that.

Jenilee - posted on 01/05/2009

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Hi Rebecca,



I know how you feel.  I family friend had a little girl a month after Camryn was born so everyone compared the two and when Sarah was doing something that Camryn hadn't done yet everyone would get quiet or say "Oh well, she'll  catch up."  We did genetic testing as well but notihng showed up for us.  We still don't know what's causing Camryn's hypotonia.  Thankfully she has no other medical issues.  She is delayed across the board but only significantly in her receptive language.  It's almost getting harder as she's getting older because it becomes more noticeable that she's not understanding as much as her peers.  She doesn't understand everything when adults talk to her and doesn't often respond so people tend to look at me like she's either very shy or just being rude.  I've found that the therapies have made a significant impact with her and it really helps to have a great team involved.  It's just so hard not knowing what the future holds.  Not only do we have to worry about the average things but I find myself worrying about how she'll do in school, if she'll be ina regular curriculum and especially how other kids will be with her and if she'll be picked on because she's behind. 



 

Rebecca - posted on 01/05/2009

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when I read the word "hypotonia" I had no idea what it was, but I just did a search on it and that sounds like what my son is dealing with. When my son was not sitting unsupported by 9,10,11, & even 12 months of age, I knew something was wrong. The pediatrician says he has low muscle tone, but we do not know why. He started physical therapy at around a year and has improved drastically since then, but his legs are still fairly weak. He is supposed to see a geneticist at the end of this month so hopefully they can figure out what is going on. I know how difficult it can be sometimes. I always have people asking me if he is doing this or that. I have to say no. They usually look at me kinda funny after that.

Iridescent - posted on 01/04/2009

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My daughter was diagnosed with "Benign Congenital Hypotonia" at 6 months, and a few days later they sent us to Mayo Clinic urgently because it turns out she has that mitochondrial disease someone else mentioned. She has OTC Deficiency, which causes a lot of problems, and when she's sick she loses all muscle tone (even the ability to breathe when bad). Right now she's doing better, but if she gets sick she'll lose tone again and have to relearn if she recovers.

Dixie - posted on 01/01/2009

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Hey Jenilee! My name is Dixie, my son Stirling, 2 years, has hypotonia along with a few other things....we went to Cincinnati Children's hospital because I kept getting the run around from every other doctor I took him to see. Something with him just wasn't right, to me, being a special ed teacher, it was so obdvious, my friends also agreed, but my husband thought I was crazy. Anyway, we drool fairly bad, wear sure step braces to help with his feet turning in and tripping over them (from the low muscle tone), have sensory issues (mostly oral motor but there are other things) , dysphagia (difficulty swallowing) and are slow to process receptive language. We were finally diagnosed with delayed meylination which is where the meylin on the nerves in his brain isn't formed completely. It is amazing how that affects everything. Is there anything else other than the low muscle tone? Feel free to email me at dxylee@yahoo.com I sometimes have a hard time navigating these websites and may not find this particular page again. Good Luck!

Stephanie - posted on 12/31/2008

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Hi All! My 10 month old son was diagnosed with "upper-extremity hypotonia" at 6 months. He has been in PT since then (and ST for lack of babbling). I saw a ped. neurologist last week who feels that there may be an underlying condition, so we are now going down the road of testing...MRI, bloodwork and ultrasound. I was devastated at first, but I guess you learn to live with what the future may bring. I have to say that he is progressing very well...he just started crawling, although quite unsteady. He doesn't babble much at all, but he is getting tubes in his ears on Friday. I am hoping that the speech delay has to do with the chronic ear infections and not the hypotonia or underlying condition. He also has reflux (on prevacid).

Marla - posted on 11/25/2008

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My daughter was diagnosed with benign congenital hypotonia at 6 months. We've done lots of testing, everything is normal. The lastest thing ruled out has been mitochondrial. We plan on going to see a neurologist who specializes in movement disorders soon. My husband and I have fought with the insurance company and she now gets 13 therapies a week and has made steady progress. At 2 1/2 she crawls great and cruises. She can take a couple very unsteady steps in between furniture. She can also walk with a walker. She is cognitively on tract. She has just recently began verbalizing a few words. She mostly uses sign language for communication. This has been a long 2 years, but I will continue to try to find an answer. I'm a neonatal nurse practitioner, so it's hard for me to hear that this may be some undiscovered neuro-genetic disorder. I'm going to keep trying. Thank goodness she is progressing so well. She is a fighter.

Bethea - posted on 11/25/2008

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My son is almost 3 and also had a diagnosis of hypotonia. He just received a diagnosis of mild cerebral palsy, which I guess hypotonia is a form of CP. It's easier for people to understand CP though. He also has verbal and oral apraxia and does not yet speak. He has some sounds, but not yet words. He has been receiving special education services through our school district since he was 9 months old. We still don't know why he has the problems he has and will probably never know. I've done a lot of reading about hypotonia/CP and it seems it could be something as simple as having a urinary tract infection during pregnancy. I also had a difficult pregnancy, but nothing that I know of that would have deprived him of oxygen. It sounds like you're doing everything you can for her. Keep working with her and you'll be amazed at the progress.

Sheila - posted on 11/23/2008

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Has she had any developmental testing done by a Developmental Pediatrician? I see she is 3 now, has she been evaluated by the school system? I know every state is a little different, but the majority start to evaluate kids at 3. Just a thought. My son now 41/2 also had hypotonia. His diagnosis is PDD and Mild MR, among others. He too has seen loads of doctors and has had testing done with nothing. It took a long time for me to even get a diagnosis, just in August. Don't give up. It good that she no genetic issues. But keep going back every year, they come up with new tests all the time. Keep on with the therapies. Always look for a second and third opinion.

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