Low Muscle Tone & Small Feet

Your niece is not developing according to averages. She has seen a specialist and is getting PT. There may or may not be anything more to be "done" at this stage. I would suggest broaching this subject very carefully and politely if at all with the parents. I have a brother with three boys who all have had developmental delays due to premature birth. Our family was concerned that the parents weren't addressing the issues, but later found out that they had gotten diagnosis, treatments, and special services that they had not shared with us. They didn't want their kids to be a set of diagnosis and labels to our family, but just boys. In the end, this girl's parents are in charge of her care.

I have a son with developmental disabilities and when a family member questions what I am doing for him, it is very aggravating. Like I can't take care of the problem myself. However, when a family member mentions that they "Ran into" or stumbled upon some new information and pass it on to me, that is much easier to take. Then I can look into the information and determine the next step to take. With that said, as concerned as you are, look into more information regarding your niece and kindly pass it on. That is more helpful then anything else.

Hi,
My cousin had a daughter, that did not hold her head up very well and was slow to do crawling and walking. Drs. made not much of it. When she was about a year and a half- her Aunt babysat and had a very trying day. She was constantly falling down and bumping into things because she couldn't walk straight. When she left, the Aunt popped in home videos and was very upset to see that 6 months before she had actually walked better. She finally talked her sister into specialists and they took some muscle out to test it and found some rare muscle disease. I'm not sure of the name, but I do know that she takes medication and has therapy. She also got teeth late- another thing the Drs. didn't make much of until they saw the first two teeth at age 2- they looked like sticks! That also had to do with whatever she has. I hope this helps.

I would say you need to push this issue for your neices good. I am studing medicine so these kinds of thing interest me, i did a quick search based on what you said her syptoms where and there is a condition known as Prader-Willi_syndrome that fits her syptoms, if you do a quick google search you can find more information on it. From what i read this could be what is causing her problems. It isn't life threatening and they can do lab work to diagnos if this is it and hormone treatment takes care of more of the syptoms over time. But there where also a few other syndromes that came up with some but not all of her syptoms.

My point is that you should aproach her parents as a concerned aunt wanting the best for your neice not that there is something wrong with her but that she may have a genetic problem that needs treatment so she can live a full and happy life. If you do some research before you talk to them you can help inform them not just scare them. But be prepared they may not want to hear that anything is wrong with their little girl and if that is the case then you just have to back off.

Almost three years have passed since this questions was posted so I suspect that a diagnosis has been made by now. But I believe that this child has Prader-Willi syndrome until proven otherwise. All the same, it seems likely that a more complete clinical picture is available by now.

Rett Syndrome is another possibility...genetic disorder primarliy in girls...low muscle tone is a characteristic....as well as developmental delays or regression. We have friends whose daughter was recently diagnosed after much physical therapy wasn't showing the results they had hoped. Anyway, they should definitely be concerned and should push for genetic testing.

I'm not sure about the small feet- and most doctor's prefer not to "diagnose" specific developmental delays unless they are something obvious or genetic until the age of six because many children will develop and catch up before that age however that is what's called the window of opportunity when all the neurons are making their connections so if you're going to push for intervention and/or diagnosis, now is the time. After 6, they will not be able to develop as quickly.

My daughter has low muscle tone due to Cerebral Palsy which generally is related to a number of other symptoms such as speech and feeding problems, colic, reflux, sensative skin, late sitting up and crawling, etc..

The thing is that the treatment for almost all diagnosis is going to be the same (speech therapy, feeding therapy, physical therapy, and occupational therapy) so if they can't find a diagnosis, at least you know you did everything you could.

I say push.

I would also recommend a good rehabilitation specialist- Dan Mclullen at Childrens in MPLS. He gave us a diagnosis when no one else really wanted to get into it at the time.

Look at the symptoms of Delang Syndrom...it's on Web MD...my friend's nephew has it and sounds very similar. Good luck!