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Hi All, Well, DS7 has been diagnosed with Ehlers Danlos by a genetist this past week. When we went to the neuromuscular clinic the doctor seemed to feel that DS's hypotonia was secondary perhaps to a connective tissue disorder because of his hypermobile joints. She referred us the connective tissue clinic. On Wednesday, we finally had our appointment and Dr. at the connective tissues clinic diagnosed him with Ehlers Danlos. She said it's quite mild but we need to have his heart looked at and monitored (incidently, or maybe not so incidental, mitrol valve issues, leaky heart valves, etc. run strong in my husband's family). I am not sure what to think as no one seems to run any kind of tests - they docs just look at him and talk to us for an hour and make these diagnosis. I know they see A LOT and know their stuff but still it just seems bit 'unscientific' to me. Nevertheless, now that I know what it is, it does seem to fit well albeit mildly. Doc was very nice - her son has dysgraphia and dyslexia (he's 16) we were chatting about that stuff (we were speculating that my DS has two things going on - mild ehlers danlos hypermobility type affecting his joints and this affecting his physical abilities to write for example and probably dysgraphia/dyslexia too). Anyway, just wanted to update y'all. I'm sad he has this but relieved to know the 'cause' and relieved that it is not something more difficult and that it is "mild." Anyone else here with a LO with this diagnosis?

Irena we are waiting for a confirmation of diagnosis from a geneticist, but yes. And there are others too, it seems like there is an unusually high number with EDS, marfans, or similar, considering the size of this board.

Also, Irena, there is not currently any gene test for EDS hypermobility type (which I would guess is the type that has been diagnosed). So diagnosis is by a checklist of features that actually are pretty easy to determine - the features are there or they aren't. It's great that his symptoms are mild now, but knowing he has EDS allows you to understand the risks and hopefully avoid problems in the future. It will also allow you to be on the watch for co-morbid issues that are often overlooked or misunderstood.

I have EDS-hypermobility type and my son has an appointment with a geneticist in Sept. He also has an appointment in the fall for an assessment to determine if he has dyslexia. So he is looking at an EDS/dyslexia combo too.

Have you seen this?

http://www.ednf.org/index.php?option=com_content&task=view&id=2127&Itemid=88889255

So there is no genetic test for EDS? I am wondering if we should get DS evaluated for this. He was diagnosed with benign congenital hypotonia as a baby and is still hypermobile. He also has GERD. I am not aware of any other problems, though he seems to tire more easily than other children (he also has asthma, though). He is only 5 so writing isn't a big part of his life yet, but I don't see any issues with it. One thing we do notice with him is that he drops things a lot--cups, forks, food, pencils, whatever. It's like he can't maintain a hand grip very well.

I don't see any of the skin manifestations--does that rule it out?

I would say you should get him evaluated for it... Hypermobile joints are the hallmark. Also the gerd and his tiring easily, the loose joints cause problems with hand strength. It's better to know b/c you can deal with thigs better and prevent things and monitor things.

I also have some hypermobile joints but not many. DS is more so than me, but not as extreme as the photos of EDS online. I guess maybe it's a spectrum?

There are gene tests for some of the other forms, but not hypermobility type (type 3), which is the most common type. And skin involvement is minimal in type 3, soft skin (whatever that means) but not super stretchy, super stretchy or fragile skin indicates a different type.