Query over Muscular Dystrophy

[AtWitsEnd21]

My DS is 20m. He has been walking since about 11m. He never crawled or cruised, bum shuffles around. He has recently made a lot of progress in his gross motor skills but still cannot pull up to stand. To get up he has always just cried and put his arms up and we lift him. We saw a physio recently and we discussed his progress and she was happy that, although he is delayed, he will get there with pulling to stand. He can kick a ball, stand from sitting, run, walk on inclines and use steps to get to a slide etc. but not able to pull up to stand.
We had previously been referred to a paediatrician who we saw today who is referring us on to a developmental clinic that focuses on motor skills. She mentioned they may want to do a blood test for muscular dystrophy. I am distraught. I did not expect this to be the outcome.
Can anyone whose toddler was diagnosed with muscular dystrophy describe their symptoms at this age? I’m in total shock.

I can imagine it came as a huge shock but it does sound as though maybe they are just ruling it out and not saying it definitely sounds like that?

Thank you for your kind reply. Yes the health centre nurse called me in the afternoon to tell me not to panic that the clinic deals with lots of other issues and her gut was telling her it is not MD. DS had chronic reflux as a baby and never crawled or cruised, we are hoping the deficits in his motor skills are because he missed these steps and the associated muscle development. That being said I am still distraught. I can’t think of anything else

I only know one child diagnosed with MD and if it’s of any help he couldn’t do half of the things your DS can at that age

Really I can’t thank you enough for taking the time to offer that reassurance. DS is progressing all the time and can do so much I was so shocked at the suggestion of MD.

OP, I’m really not an expert but I would think it to be highly unusual for a 20 month old to run, climb, kick a ball and have muscular dystrophy. I went down that rabbit hole and that’s not how any of the kids with the condition were described as toddlers.

That’s exactly what I thought. He really doesn’t fit the profile. Obviously he has some kind of motor delay or deficit in that he cannot get up to stand but I genuinely felt like the paediatrician didn’t want to hear about the progress in that area he has made in the last two/three months she just kept telling me he is way way behind in getting up to stand. He was unable to stand up from a step at the initial appointment, he can do that easily now. He was very unsure on uneven terrain and now he seeks it out. He couldn’t get in and out of his little tykes car he can now. Surely there is a broader picture to consider!

Is the blood test to rule out any conditions as well as MD?

She wasn’t clear, she said the clinic would discuss it when we meet them

@AtWitsEnd21 its horrible you’re going through this but I honestly think you can put that worry out of your mind. The bum shuffling signals low core tone or general low tone to me but nothing serious like a degenerative disease. He’s progressing and not regressing and that’s very important here.

Thanks for that. He actually pulled up to stand independently using furniture for the very first time yesterday! I couldn’t and still can’t quite believe it! It’s such a big step for him! I know he is still quite a bit behind and I have always felt he may have some kind of hypotonia or hyper mobility in his hips but the fact that he has gained another skill gives me some comfort.

That is such great news @AtWitsEnd21!

Thank you, we were so delighted. There’s so much cross over between benign motor delays and more serious conditions but im hoping this signals the former is more likely

My son was similar... walked at 24 m. Overally delays in all motor skills. We were referred to the neuromuscular clinic (used to be at the Hammersmith in London, now moved) and he was tested for Muscular Dystrophy and other muscle disorders.
They might want to do a muscle biopsy... this sounds scary but it really really is a tiny punch hole biopsy. DS2's came back mildly abnormal but non specific.

He gradually just made progress in his own time... he had hypotonia and hypermobility of unknown cause and mild muscle weakness. He did have orthopaedic boots and splints for quite a few years, but in time he could run (albeit awkwardly..he's also very dyspraxic), and while he's never going to be an athelete he has no major issues... and only wears orthotic inserts now!

I’m so glad to hear your DS made such great progress! That must have been such a worrying time for you.
DS has made huge progress this week, he is kneeling to play for short periods and is now pulling to stand using furniture. Still running around as usual. I hope he continues to make progress such that when the appointment comes around they will be less concerned.

I just want to update the thread in case any other desperate parent googles muscular dystrophy mumsnet as I did.

DS was assessed today in the neuro disability clinic. Unbeknownst to us the paediatrician had made an urgent referral for suspected muscular dystrophy. He was almost immediately assessed as being absolutely fine. He has caught up beautifully over the summer, they suspect he was just on his own motor developmental path. There were a lot of raised eye brows as to why we were even there. A wonderful outcome.