Emerging motor disorder...genetic disorder...metabolic disorder...?????!

[brizzlemom]

The professionals involved with my 4 month old dd are now talking of the above. Are the the same thing?? Anyone having similar diagnoses bandied about? She has hypotonia though they now think her limbs may have too much tone. She also has a weak swallow so is ng tube fed but talk now of a peg. She is smiley and socially responsive currently but still a way off holding her up for more than a few seconds. Thanks in advance for any feedback x

[Louisajane27]

Hi my ds2 is 4month and has similar problems to your dd, he is feed by an nj tube and has problems with muscle tone. we have also been told that it could be metabolic or genetic. From my understanding they can be very different or similar to each other if that makes sense? (I'm still getting my head around this too) they started running tests on ds2 before he was born as they noticed problems with his heart and brain. So far everything has come back negative but they are still running tests. SWAN is great charity that helps children/parents who don't have a diagnosis. You might them helpful. Good luck, I hope you get some answers soon.

[missbluebird]

Hello, I have commented on one of your posts before. I think I am 4 weeks ahead of you in the investigations from the looks of things! As our genetics aren't throwing anything up they have moved into the metabolic disorders. We started testing 3 weeks ago but can't get enough blood out of DS for everything as yet.

My understanding is that they follow a protocol when babies are born with hypotonia. They treat it as a symptom of an underlying condition and then work down a list. They start with possible infections (did your DC have a lumbar puncture and other bloods after birth?) then move into genetics (this happened as we were discharged from SCBU) and then go on to metabolic disorders. All these things have hypotonia as a presenting symptom. We are also scheduled for an MRI scan in two weeks to rule out any brain abnormalities. Once all this is done if nothing shows up we have been told we will be put on wait and see...so wait and see if any other symptoms occur as DS gets older that points to what it might be. This is because it is impossible to check for every single genetic condition going and they need to be pointed towards specific ones.

It may be a formal diagnosis is never made..I've read about benign hypotonia being given as the diagnosis as they can't work out what is causing it.

We are about to go private to get second opinions but NHs have been great and I am not sure what else they could possibly test for but want to cover all bases.

[missbluebird]

Oh and I think my DS is fine socially (lots of smiles and giggles) but has no head control still at 20 weeks. On our most recent appointment we were told he presents not only with hypotonia but also hypertonia and dystonia! Feels like they are trying to cover everything.