hypotonic CP anyone?

[hdirks]

Does anyones kiddo have Hypotonic CP? Lani's Physiatrist thinks this is a good possibility for her but it doesn't fit all of her "quirks". So she may have this along with another type of syndrome....they just can't figure out what. So we haven't gotten the official dx but was just wondering what symptoms your kids exhibit if they have this? Thanks!

[CorbinsMama]

My daughter has CP, but she has mixed tone. She turned 4 in April. She has a lot of rounding in her shoulders and does not sit super straight and upright. She has very tight hamstrings, something we hope to have alleviated soon by Botox injections. She can walk with support and using a reverse walker. Her legs know what to do, but her muscle tone prevents this and she sometimes scissors her legs (another thing we hope will be helped by the Botox).

I don't know what else to say about her, but if you have any questions, I would be happy to share our experience.

[mekat]

Hypotonic CP isn't really an all encompassing diagnosis so there can be quirks outside of this diagnosis.  If they give her the diagnosis that doesn't mean that will be her primary diagnosis.  My son for example has two primary diagnosis of 7q monosomy & 4q trisomy.  He got hit with two genetic disorders because his is from an unbalanced translocation between the two.  He is definitely hypotonic but it is really a manifestation of his genetic disorders.  Actually as you can imagine with two genetic syndromes he actually has a lot of medical issues but they are all secondary to his genetic syndromes. 

Basically what I am saying is she has hypotonia.   So what now?  That doesn't tell you what is causing her abnormal muscle tone.  There is still a cause lurking out there and that will then be her primary diagnosis. 

Did that make sense? Hopefully, it did.

Have you followed up with a neurologist?  How about a geneticist?   Did they run a basic Karyotype, do MRI's or take tissue samples?  These all are directions you may need to go in to find a primary diagnosis.  Hopefully one of her doctors has a decent educated guess what direction to go in.  There is a vast amount of things that can go wrong in a human body and some things aren't as easy to test for as others.  For example my son's karyotype is definitely abnormal but we had one karyotype test come back completely normal from one lab and another showed problems with chromsome 7 being too long.  Duplicaton of 4 material had attached to 7 but the test wasn't sensitive enough to determine the extra length was due to genetic material from another chromosome.   The lack of sensitivity caused the test to throw an error thus it gave a preliminary result of a trisomy on 7 which was the exact opposite of what he had.   I have heard  mosaic genetic defects and mitochondrial diseases can be extremely difficult to diagnosis.   Rearrangements in chromosomes can also cause false test results.  Small mutations in a couple of genes would probably be hard to pinpoint unless they know exactly where to look.

I hope you get your answer but it might not be easy to come by.  

ETA - Forgot to answer the original question.   My son 7 years old and has hypotonia all over.  He has mild scoliosis from uneven muscle tone at least that is what ortho tells me but I think it may also be an issue because of deformities in his lower spine but when questioned about it the ortho tends to avoid giving an answer.  So far so good his hypotonia has not caused hip displacement *knock on wood* but because of his hypotonia he is at very high risk for it.  Never underestimate the value of positioning and weight bearing.  I am certain weight bearing and good positioning in daily life have kept his ortho issues mild and research data backs me up in my conclusions.   We may eventually have to deal with pandora's box of ortho issues but I am doing my best to keep them at bay as long as possible in the meantime.  He has been wheeling his own wheelchair since the age of five.  He has been walking in a gait trainer since the age of six.  He has been crawling since the age of two and has been rolling since one year old.   Under the age of one he barely ever moved.  Now, he is very mobile and does not depend on me to get him places.  I do carry him up & down stairs or push his wheelchair in unsafe areas or if he is being stubborn.  He always takes the school staff by surprise when they are new.  He delights in taking off on them and making them chase him down.  Chase me has become a game for him and one he makes me play frequently in stores until I get fed up and snap the breaks down on his wheelchair tires and of course that always causes a tantrum.   Because he is hypotonic he tires easily and quickly and we have to be careful not to baby him and force him to work.  One thing we can never do is leave his seat in his gait trainer or he will sit on it instead of standing.   We do have a mild problem with him scissoring his legs in the gait trainer and neither his PT or I can figure it out since his hips are fine and he doesn't have the high tone typically seen in kids that scissor so we do use very lose custom made ankle straps to keep him from tripping over his feet in the gait trainer. 

Edited by mekat - 8/21/11 at 7:18am

[hdirks]

We have seen two geneticists and follow up with a neurologist every 6 months. In total she has 27 specialists and nobody can really give us an answer. She has had 3 MRIs. They have never taken tissue samples but have done a basic karyotpye as well as some other genetic testing because she is also profoundly deaf and has assymetric ventricles in her brain and some missing white matter. So far we haven't come up with anything that would tie everything together and all of her gentic testing has come back normal.

We did just see her neurologist on friday and he mentioned doing some testing for mitochondiral disease so I think that will be our next step.

She is 2 1/2 and not quite walking on her own but does walk with a walker. She does get very tired and really blotchy very quickly while walking. Her feet turn bright red and are extremely hot to the touch as well. Not quite sure if that means anything or not.

She is progressing developmentally so that is good news, just wish we had more of a difinitive diagnosis so we would know what to expect or how to better help her.

[mekat]

Originally Posted by hdirks She does get very tired and really blotchy very quickly while walking. Her feet turn bright red and are extremely hot to the touch as well. Not quite sure if that means anything or not.

She is progressing developmentally so that is good news, just wish we had more of a difinitive diagnosis so we would know what to expect or how to better help her.

Has any one mentioned autonomic problems to you?  Sounds to me like she might have some involvement in that area.  Alec doesn't have those issues so I can't really give you great details but  Complex Child magazine  has a whole section on dysautonomia on their site.  

Having my son's diagnosis hasn't really helped me as much as I would have liked.  There is just too broad of a developmental range for his syndromes and then having combined syndromes makes it even harder to try and guess any future or longevity.   I even got hit with a surprise diagnosis (natural killer cell functional deficiency) 2 years ago that scared the crude out of me because I had thought we had already discovered all his medical conditions.  It took me a couple of weeks of searching but I finally found one tiny sentence in a United Kingdom report on 7q monosomy mentioning frequent repeat infections in 7q children.  On the flip side I knew he had a tethered spinal cord before the tests proved me right because of how prevalent tethered cord and Spina Bifida are in 7q children.  There are also so many things the syndromes say he should be and he isn't; For example 4q children are known for being very verbal, my son has no verbal language what so ever even at the age of 7 and probably will never be verbal but then again 4q children are often born with a heart defect with a high fatality rate that he also thankfully doesn't have. 

[hdirks]

Wow....thanks so much for the info!

Looking at the pictures and reading the information on autonomic dysfunction I DEFINITELY think this is what she has! Still not a primary diagnosis but will definitely be bringing it up with her ped as well as when they are wanting to test for mito disease. Thanks for the reply!

[devon]

My son has hypotonic hemiplagic CP.  He is overall hypotonic, but he has a pretty noticable right sided weakness (limps, droopy hand, etc).  He also has a genetic condition - Noonan Syndrome - which has hypotonia as a common symptom.  The only reason we found out about the brain issues (and thus had the CP diagnosis) was that he had the right sided discrepancy pretty much from the get-go, and it was staying pronounced even with physical/occupational therapy, which was otherwise helping the hypotonia.  

He has a pretty mild case of CP.  He started sitting upright around 8 months by himself, rolling at around 6-7 months.  He could army crawl around 13 months, and regular crawled and walked right at 18 months.  He got some low ankle level orthotics at 15 months which gave him some stability.  He now has an orthotic on the right side above the ankle and just an insert on the left.  He can't jump, still has issues climbing/with stairs (he's 2.5 yo now).  We are having some issues with hip dysplasia on the right side, even though he is very mobile, and are anxiously hoping that it has gotten better by Sept, otherwise we'll be heading into surgery (he went from a 20% subluxation in Nov '10 to a 40-50% subluxation in May '11)  He is compounded by the fact that there is some hip dysplasia and scoliosis associated with his genetic condition as well

Good luck!  Hypotonia is a tough dx because a lot of kids with CP don't have it and not all practitioners are well versed in the difference and difficulties it brings. 

[sbgrace]

I replied to your response to the mitochondrial thread.

[DBZ]

My daughter has hemiplegic cp due to a stroke she had inutero. She requires support (me or a walker) for standing or walking. Most of the tone in her legs is low. The exception is her hamstrings. Her MRI also said something about white matter being affected. On and MRI, a stroke shows up as a dark mass. 

How old was your kid when they did the MRIs? It's not perfect technology. Some things get "hidden" as the child grows. 

For me, my daughter's diagnosis has helped. It gives me something to be mad at, something to blame, etc.

[askew]

 

Originally Posted by DBZ 

 Her MRI also said something about white matter being affected. On and MRI, a stroke shows up as a dark mass. 

PVL? My daughter has this, she had a stroke too. Either in utero or at birth. Periventricular leukomalacia. (sp?) Is death of the white matter outside of ventricles. 

So far we don't have a CP diagnosis though. DD is 2. She has mild hypotonia, but we think it comes from a genetic difference she has, not the stoke. We are starting to notice some lack of fine motor coordination on her left hand, and this would likely be from the stoke. 

[DBZ]

Originally Posted by askew 

PVL? My daughter has this, she had a stroke too. Either in utero or at birth. Periventricular leukomalacia. (sp?) Is death of the white matter outside of ventricles. 

So far we don't have a CP diagnosis though. DD is 2. She has mild hypotonia, but we think it comes from a genetic difference she has, not the stoke. We are starting to notice some lack of fine motor coordination on her left hand, and this would likely be from the stoke. 

Yes, it does say PVL. Thank you for kind of clearing up what that really means. 

Zoe, got a cp diagnosis quickly because she is one of the more severely affected kids. Most of the kids who had a stoke in utero or around birth are walking, talking and all that. Most kids have some issue with one hand, but for a lot of kids it is no big deal. Zoe's hand is primarily a helper hand. She can use it to support a doll in between her middle and ring fingers or pick up something that isn't small. There are support groups and information sites on the internet and social networking sites. Look up "hemi kids" and "pediatric stroke awareness"

[marcelle]

Dear mates,

I am glad I have found this forum and to be honest I am really suprised that so many children suffer :(. Till now I felt myself that there is just my child with this strange condition far away around I even have never heard before about hypotonia till the time we starded experienced problems with significant development delay at one year of age. And I have already learnt a lot from all the posts in this group. Now I have finally better idea what we should expect in the near future because I was always having no idea what it is going to be as doctors are saying “nothing” and after some time I think I know more about this “diagnosis” then they do. They significantly has no other experience with the child with hypotonia before and I see their wonder and interest in my son progression. It is because I am from small town and the neurological threatment here is as well very terrible. Therapist do more nothing then something :( Unfortunatelly any specialist is too far from us as well as any suitable therapy so we do hard work at home mainly on our own.

I am really wonder if anybody has an experience with SCENAR therapy? Or has heard about someone has tried it? I have heard a lot about this therapy and it’s rumoured possitive curing effects. Like excellent progresses while threating cerebral palsy (and other neurological, skin, ... and many many other diagnosis). It looks like it can help to get progress within any diagnosis. You can find some doctor’s recommendations onto this therapy on internet but I cannot find any evidence of someone’s real experience or someone’s apparent positive achievements while threating their diagnosis with scenar.

I would be very grateful for sharing your or somebody you know experience whatever it is…

My son has decreased muscle tone and still cannot walk independently in his 24 months because of this hypotonia. So I think we might try this therapy…

I really appreciate your comments… :)