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.

Sorry I meant genetic, should have proofread the title! Thanks

We've edited your thread title now, OP.

I don't know about genetic disorders but I do know that the baby's brain can suffer from reduced blood flow in utero sometimes so that may be the case for your DD if she wasn't premature and didn't have anything happen at birth. Will she be getting an MRI?

Thanks, I am going out of my mind with worry and just hoping it’s CP! So we haven’t had the MRI yet due to waiting lists, but I wondered about paying for genetic testing whilst waiting to hopefully write off more progressive genetic disorders?

Hi @AnnabelleQ
I have commented on your previous threads as I have CP
Genetic links of Cerebral Palsy really is incredibly rare, so I certainly don't think you need to proceed with this
and I understand in DD's case no factors have been identified( prematurity or birth injury for example) This is often the case, and an MRI may, or may not produce evidence anyway.
Please be assured you are doing everything possible to help your DD,, whatever her examinations show, she is still DD. Although I do understand how anxious you are.
Best wishes to you

Hi @uncomfortablydumb53 I can’t believe I’ve gone from worrying about CP to hoping that is is CP! She wasn’t premature though, she didn’t have a difficult birth, so I can’t work out how the CP damage could have occurred. That isn’t to say it didn’t without an obvious cause, but it’s made me so worried that it’s the more rare and worrying explanation of a progressive genetic disorder. I was reassuring myself that CP is more common BUT someone has to be the person with the more rare cause. I’m wondering about genetic testing, especially if the MRI doesn’t reveal CP damage, but then I guess this might not give me the peace of mind I am hoping for and instead awful news!

Have they ruled out dystonia? Its a common neurological movement disorder but many medical staff seem not to have heard of it.
www.dystonia.org.uk/what-is-dystonia

DD has very mild cerebral palsy. She was born at 36 weeks but a healthy weight/no birth injury etc.
It was probably caused by a momentary lack of oxygen to the brain but wouldn't have a clue when it happened.

Hey, I think you’re getting yourself into a state about something that most likely won’t happen. It’s totally not a criticism, and many of us may well react the same way in your situation, but I think it’s something you should talk to someone about. Perhaps your GP or Health visitor may be the best place to start. Sometimes we get swept along with the practicalities of being a parent that we forget we also need help from time to time.
Your DD may, or may not, have CP, she may have some other condition, there may never be a cause / diagnosis found. However, she’s your wonderful daughter whom you love and whom loves you. I hope you find some answers to your questions x

Thanks @Thelnebriati no we haven’t had anything ruled out yet so thanks. Only just starting the diagnosis process now. I’m terrified to be honest!

@Tralalalala21 thanks - oh I so hope it’s CP too. Once I found out that was non progressive, it took a while but I thought right, she’s got this, we can handle it. Now I’m in this horrible limbo land wondering if it’s something worse and almost can’t bear to progress with diagnosis yet can’t deal with this anxiety of waiting for appointments either!

Thanks @Soontobe60 you are right, I am struggling with this. I don’t know if anyone can help though other than reassurance it isn’t anything that will be progressive. My grandma had MS which I am now questioning - she really struggled with it and it was very severe by the time I knew her, so I’m wondering if genetic testing would have shown it wasn’t actually MS but instead potentially the same thing causing my daughter’s emerging spasticity. I think a diagnosis would massively help but only better than this current anxiety if it shows something non progressive?!

Large scale genetic testing is not a simple and therefore probably an expensive process. They test on multiple levels, not just the simple ones used during pregnancy.

How old is she and what form does the spasticity take? Is it one sided only, or legs only? Any other issues, like hearing or eye problems?

I'd say wait for the MRI. I think genetic testing is also a long process if they are searching for a needle in a haystack. But yes, some genetic causes do present with CP like symptoms

@DaisyandSimeon thanks, I was about to say I guess it’s the price of peace of mind but then actually it isn’t necessarily at all and could be quite the opposite! There is no cure for hereditary spasticity disorders so it isn’t like there is an urgency from that point of view.
She’s 5, she has spasticity affecting one leg. I don’t think she has any other issues at the moment.

Oh and it’s hypertonia, so she tip toe walks often on that side and the calf is more rigid/tight, plus she has a slightly smaller calf/foot/leg length on that side.

From what you’ve described I very much doubt it’s MS. My SIL has it, she was diagnosed aged about 35, is now 55. She only stopped working when she was 50.

@AnnabelleQ my daughter has an extremely rare genetic condition that presented like cerebral palsy when she was born. I am happy to message you about our story, but not something I want to post on forum as some parts are very personal and some things may be distressing for parents to be.

@Soontobe60 yes I don’t think it’s MS, sorry, I think perhaps my grandma’s MS was actually a hereditary spasticity disorder but she wouldn’t have been genetically tested. And much like my daughter now potentially having CP, these can both seem like what they are but actually be progressive genetic disorders.

@Seasidevibes yes please message me x

Speaking as a parent rather than a medic It is vanishingly unlikely it's a genetic condition of another origin if she is now 6, and there is a recognised gait pattern with spastic cp( I have it)
You could seek a private MRI and appointment if you discover the wait is incredibly long

My Ds has ventricularmegaly. They said before he was born he may appear like a child with CP. He actually doesn't but that could explain it. It only got picked up for us at 36 week scan so if you only had the two usual ones it could have been missed? Would be a good outcome for you

HSP tends to present very bilaterally and fairly symmetric, your daughter sounds unilaterally affected so I would think HSP is unlikely. Also a very very typical CP gait presentation. Hope that helps a bit

I’ve tried to send a message to you @AnnabelleQ but it’s not sending? Will try again later once I’ve tucked kids up in bed.

I pm'd you earlier @AnnabelleQ

@Seasidevibes I’ve sent you a pm in case it works to reply to one, thanks

@Thefrenchconnection1 thanks I’ve never heard of that, I will Google. It does sound like it could be lots of different things, so hard to know how to diagnose for sure?!

@piglywigly89 oh really, I hadn’t heard that! Is that all types of HSP do you know? DD’s definitely only seems to be affecting one leg!