Genetic disorders mistaken for cerebral palsy?

[AnnabelleQ]

This might be a long shot but does anyone know anything about genetic disorders that cause spasticity and cerebral palsy like effects? My 5 year old is being looked at for CP but she wasn’t premature/no injury that we know of, and I’m so worried it isn’t actually standard CP.

In my clinical experience yes, I have never seen a patient with HSP who is only unilaterally affected. There are of course many other genetic conditions other THAN HSP. I really would try to wait for the scans and focus on what you can do for your daughter now eg physio. The consultants will have been down this diagnostic path many times and know what they are doing. Genetic testing is not straightforward in any case.

Thanks @piglywigly89 I really will try. It’s so hard though because I resolve to stop worrying, even manage it for a couple of minutes, and five minutes later I’m anxious and desperately wanting answers, terrified of what’s going to happen to her!

Take day by day
Sounds like she doing well
Yes there us plentyiterature
And you could ask for testing to rule out some of them

More because some may be treatable or treated differently
Rather than because progressive

adc.bmj.com/content/85/5/356

ojrd.biomedcentral.com/articles/10.1186/s13023-014-0197-2

www.disabled-world.com/health/neurology/cerebral-palsy/misdiagnosis.php

www.cbsnews.com/news/woman-misdiagnosed-with-cerebral-palsy-gets-cure-after-33-years/

www.cbsnews.com/news/wom

@Embracelife thanks, yes she’s doing amazingly well and it barely affects her currently. It really is how we go from where we are now to a proper diagnosis as it all sounds like such a minefield to get to that point. I also just want to know she won’t get lots worse, it would be so hard for her to have to cope with that.

Genetics takes time
Unless some sudden change then you probably doing all you can
So long as you not seeing deterioration
(There might be changes as she grows maybe)
Then should be ok
Take videos of her moving every three months or so just for recording progress

Ataxia-telangiectasia is often mistaken for CP for many years in early childhood. It is very rare though.

I think I was on your previous thread. I have CP and used to support parents of kids with it. I’ve known of one child who was diagnosed with CP then had the diagnosis changed.

Someone I know through a hobby has a disabled child who they also originally thought had CP but I’m not sure if she was ever diagnosed with CP as this was before I met her mum.

In both cases they were younger than your DC when it was changed

Thanks @Embracelife I will try and do this and see. So hard waiting without worrying!

@DamnShesaSexyChick yes it seems there are so many! And I tell myself they are rare but then some people still have to have them. I guess with most of these genetic disorders, not much can be done anyway?!

@playmelikeasymphony hi again was the diagnosis more life affecting and how did they find out, do you know - for the child who was misdiagnosed? Interesting they were younger, maybe there is hope we would have seen more changes by now.

guess with most of these genetic disorders, not much can be done anyway?!

Some can have different specific treatments
Like glut1
Or dopamine sensitive

But if she stable and not getting worse?

Of course, someone can have the rare condition and it can be your dc, why not?

I don’t know if she’s getting worse than she would be with non progressive CP, so hard to know! I didn’t realise some of these disorders do have treatments. I posted in a HSP forum to find out from people with progressive genetic disorders how it presented itself and sadly some are saying only one side can be affected so I guess that isn’t an indicator of it being non progressive. Such a minefield.

So has she got worse since last year?
"emerging spasticity"
Do you mean there was no evidence age two or three or four?
If there is a marked change
Clearly it needs investigation
Do your own videos
So you can monitor or and show doctors znd physio

My daughter has HSP. All her MRIs and tests kept coming back clear till they did the genetic tests. HSP has over 80 different types, and those with the same type (even in the same family) may not progress the same or necessarily share the same symptoms. It does make the condition a bit of a nightmare as it's so variable. It's got to be one to rule out for your daughter if nothing else.

@Embracelife I have watched videos and feel like I can see it only ever so slightly when she’s a toddler and more now. Not drastically though at all. So I’d hope this shows it won’t get really bad, but I wonder if it will start to more rapidly progress. There are people with HSP (genetic disorders) who say it started at 7 for example, so I don’t know how hopeful to feel about the slow rate so far?

@MrsNotserp yes it’s so unpredictable if it is genetic rather than classic CP which is brain damage isn’t it. How is your daughter doing with it? Are there things that can help like sports and physio in the same way they help with classic CP?

Physio, stretching and exercise really helps. My daughter does a lot of horse riding, which builds up her core strength and works her hamstrings and calf's. Swimming is really good too. It's the 'use it or lose it' rule so keeping active is really important. AFOs can help if your daughter is a toe walker, but they are a bit awkward to wear.

Looking back my DD had symptoms from birth, but it only really got noticable when she started trying to walk and it didn't go so well. She's nearly 12 now and mobility wise has been the same for the last couple of years 😊

My ds was ex with cerebral palsy.

He actually has hereditary spastic paraplegia.

It's quite rare and presents in the pure form as diplegic cerebral palsy does.

In the complex form it can cause problems in all muscles. My ds has worse left side but affects his whole body.

There is a genetic screen for 88 of the genes that cause it but you can also be clinically diagnosed.

We noticed my ds had problems with his hands from a young age but noticed his muscles more from when he turned 5. Got worse but not noticeable to the point anyone listened to me until he was 10/11.

Then he got contracture in his arms, hyper reflexes, crossed abductor reflex, spasticity in his legs which caused a lot of stiffness etc.

He was diagnosed as autistic at 10 and they put a lot of it down to that

He has been tested for dystonia (negative) and also epilepsy as his muscle spasms at night looked like seizures and his jerks like myoclonic seizures (again negative)

His fault is on BSCL2 gene.

The diagnosis of MS is unlikely to be wrong as it can be seen on MRI scans.

Requesting the genetic screen for hsp will be helpful to you?
But genetics takes time
Focus on things which help like horse riding swimming as pp said

@Toddlerteaplease do you mean my grandma’s diagnosis of MS? Apparently her doctor wasn’t very good and missed things, I know my mum mentioned something about it and that’s how her stroke and disability got so severe. I guess also in those days, perhaps it wasn’t advanced so generic disorders misdiagnosed as MS or CP like they often are today? So my fear is my daughter has the same genetic disorder that wasn’t diagnosed in my grandma.

@itsgettingwierd your DS is the swimmer isn’t he? He copes so well with it. Sounds like there are so many genetic disorders, I don’t even know how we would find out how it would affect my DD even if they found out - perhaps it’s sort of ‘proof is in the pudding’?! Does it usually continue to progress throughout lives or plateau, I have so many questions but equally don’t know what I’d even do with the answers!
@Embracelife I think you’re right and that’s all I can do isn’t it. I have to find some way of not living in fear for her and wishing I could not just find out, but fix it before it progresses!

Yes he's the swimmer!

He does cope well because this is how he remembers life. For him it has got progressively worse over the years and he now has very limited movement in his feet and his legs are stiffer. He also gets very bad spasms where his leg gets stuck bent!

He takes it in his stride though. I think we worry about our children more than they do because for them it's their normal.

@AnnabelleQ If she is affected in one leg only I would say its far more likely she had a minor stroke pre birth, as this causes a unilateral picture. As its only a leg it would be very mild, a more severe picture would be the whole of one side. This is non progressive and improves with physio, and probably would be nothing more than a slight limp and may even become undetectable. I Think most genetic causes are a much more complicated picture than the simple one you outline and more likely to involve the whole body or both limbs. Strokes are pretty common

A full micro array would be around 5k. So beyound mist peoples means. My kids have a unique duplication so even though we know there is a genetic issue, no one else has it so no real idea what it means beyound what that gene does

@itsgettingwierd yes I’m worrying so much about her now!

@DaisyandSimeon oh I hope you’re right, I had heard that about unilateral being more likely to be CP. I just want to know what we’re dealing with!

@IncessantNameChanger sorry what’s a micro array? Genetic testing? One thing I’m aware of is the genetic testing might not even show anything IF it shows a genetic disorder - as in, how it will affect her, how progressive it will be, what to expect and when?

Yes micro array is a type of genetic testing.

I would honestly try not to worry too much.

Your dd will always know she's walked that way and it most likely won't have too much affect on her day to day.

Plus I think people are far more accepting of varying gaits now a days than when we were younger. And they are much more open to asking questions.

Yes micro array is the more in depth genetic testing so it goes down to micro ( in the thousands) of duplication, deletions and transposition. It's more in depth than just whole chromosome issues and issues that are bigger in size ( millions ) like fragile X.

My boys have have have micro duplication but it doesnt give us any solid answers except its incurable and they can pass it on so will need IVF pdg if they want to have kids.