Baby with muscular disease,. Please help

[Georgebooboo]

Hi, I took my nine month old to a pedatrisian yesterday and he says he has some form of muscle disease. His fine motor skills seem fine, grabbing toys, passing from hand to hand and babbling momma and dadda. How we he cannot sit up unaided and is classed as wobbly. I've been referred to a specialist next week and for full blood tests. The Internet has scared the crap out of me. Anyone with any experience if this please could I have your advice., so scared I might lose him

Again I have no experience but offering a hand to hold as it must be an extremely scary time for you.

Are you sure the paediatrician said he actually HAS a muscle disease? I would have thought it more likely he wants to look into it as a possibility at this stage, not an absolute certainty. My ds1 couldn't sit up unaided at 9 months. He runs about fine, now - has a mild connective tissue disorder, not a muscle disorder, but it means he has slightly low muscle tone and loose joints and needed a few years of physiotherapy to build up enough strength to support his joints and catch up physically. He had blood tests to rule out muscular dystrophy. Spinal muscular atrophy was also vaguely considered but ruled out pretty quickly. His fine motor skills were always fine, but his gross motor abilities and gross motor planning were off!... He's an active, fit 9-year old, now. Still useless at sport, but has neat handwriting!

Thank u for your replies . Rabbit stew.. The peaditrician said he has some form of muscle disease as his head and arms are floppy and he should have been lifting his head by three months. I have to go for blood tests on Monday which take six weeks and see a specialist for these types of problems next Friday. He said there are so many problems it could be and be has no idea if is on the serious or slight scale. His fine motor skills are fine, he can hold things, pass them from hand to hand and babbles. He's so rolling and lifting his head. I'd this anything like your little one ?? X

Er...I'm not a doctor but I'm fairly sure that the paediatrician can't diagnose any kind of muscle disease based solely on the observation that your DS has floppy arms and couldn't lift his head at 3 months.

I know it'll be he'll waiting for the test results - I also suggest you stay away from Dr Google!

Thinking of you and hoping it turns out to be nothing.

Ds had tests for spinal muscular atrophy and various degenerative muscle disorders, but this was after several assessments by paeds and physios.

He sat initially at 12 months, but not steadily for several months after that, he didn't roll until he was about 18 months, and couldn't lift his head until he was well over 3 months. He had no interest in toys, didn't grasp anything, and was very floppy, especially in the trunk and arms. The low muscle tone extended to his chest, his swallow and the motility of his bowel.

Our paed was very reluctant to be specific about what he was testing for, but because ds was hospitalised several times with chest problems, some of the tests were rushed through.

I am surprised that your paed described it as a muscle disease, and hope it might be because it is not his speciality?

Hope you don't have to wait too long for test results. Are you seeing a physio?

Hi georgeboo, please please stay away from google he is not your friend.

I do have experience of what you are going through but really don't want to worry or alarm you until you know for sure it is a muscle disease. The doctor should not have said what he "thinks" it could be that was very unprofessional of him/her and damn right stupid.

Wait for the specialist doctor appointment and blood test results before you panic, as a previous poster said every baby is different and will develop differently at a different rate .... Pm me if you want to talk x

At 9 months, my ds1 still had a bit of head lag when pulled by his arms from lying to sitting (nothing too alarming, though, but his head definitely couldn't keep up with the rest of his body), and if you put him on his front he could lift his head and shoulders up a little way for very short periods, before getting very upset and letting his face press into the carpet. At 3 months he definitely still needed to support his head when I picked him up from lying down.

He had a tendency for quite a long time (until nearly 2) to sit with his head tilted back and slightly to the side, as though stacking it on his shoulders to help support it - resulted in doctors mistaking him for having a stiff neck and possible meningitis when he was ill, but actually his head and neck were like that all the time! It was somewhat annoying that this posture didn't bother people when he was well, but freaked them out if combined with a temperature. He could, however, sit unsupported for relatively short periods of time from 10 or 11 months and had a beautifully straight back when he did (and weird neck position...) - he'd just tire rather quickly and then fling himself backwards. Once on his back, he couldn't roll over or get back up to sitting. The muscle weakness was really concentrated around his shoulder girdle, neck and hips, being areas where the hypermobility was most marked, so caused by that rather than the muscles themselves. He was no good with toys that need bashing, but good with fine motor control - a bit unusual, really. Maybe it is more marked in your ds, or concentrated in different areas? What did the paediatrician mean by him having weak arms? Can he not lift them up to play with things above his head when in the cot? My ds could definitely do that.

Or at least, I think he could!... I didn't get the sense his whole arm was weak, anyway, just that he didn't feel solid when you picked him up under the armpits. Anyway, a neuromuscular specialist confirmed that the pattern of muscle weakness he presented with fitted with other children she had seen who had connective tissue issues, not muscle problems and a few years of physio proved her right - he can build up and retain muscle strength.

(pps I meant, he still needed his head to be supported at 3 months old, or it would flop back).

Thanks for all the replies . He described my son as being floppy. He can roll over into his front and lift his head, he tries to craw with his legs but hasn't got there yet. When he sits in his bouncer he bashes his legs up and down to make it work but doesn't seem to weight bear when you try and stand him up. He can grab things with his hands and yes he lifts them above his head and swaps them from hand to hand. His head is still wobbly though and he doesn't feel that supported when u lift him under his arms. Don't know if this explains it anymore x

Sounds like classic low muscle tone to me, which can be caused by loads of different things, including hypermobility, as per my ds. If he doesn't get lots of chest infections or have problems swallowing and chewing food, I would try not to let the paediatrician's incautious words worry you too much. Your ds is only 9 months - mine couldn't sit up at all, then, and was several months off sitting up securely, and he couldn't even roll over until the physio taught him at 15 months, or crawl until the physio taught him a few months after that. He can now ride a bike, run, hop, skip, jump and annoy for England!

Did he check your ds's reflexes and comment on those?

I think he said the reflexes were ok but I'm not one hundred percent sure as there was so much to take in. He doesn't seem to have any problem eating and weaning wasn't too difficult. I'm hoping its something that can be helped with physio and not something serious as u always think the worst x

Try and push for physio input asap, stretches, standing frames and swimming will help develop muscles quickly.

By the way, low muscle tone is not the same thing as muscle weakness. Low muscle tone is more like a slowness of the muscles to respond to a stimulus or stretch. It is often associated with hypermobility or muscle weakness, but is not entirely the same thing as either of those. Hence, it is not always part of a physical muscle disorder: oddities in connective tissue or the way the messages travel between muscles and brain can cause it, sometimes it's part of a whole range of issues and sometimes it's something that turns out to be not much at all in the long run, nobody finds any cause and it ceases to be considered an issue. Sometimes it continues to be an issue, but still no-one knows what caused it: there are literally thousands of possibilities. In the long run, appropriate physiotherapy, as GettingAnnoyed suggested, is the best treatment regardless of cause.

Thanks rabbitstew.. I think it's just the worry that it's something serious. If I hadn't of seen them I eould of thought there was nothing wrong with him and he was just a little slow at sitting and building his strength . From what u remember when u went through the process was there any suggestion any of the illnesses would mean you would lose the little one? I can cope with anything but that x

It's extremely unlikely your ds has an illness that will result in you losing him. There are a huge number of far more likely and far less serious possible causes of his delays. The doctors will rule out the most easily diagnosed serious conditions first, though, not because they are the most likely but because they are the most serious and easy to rule out! They will then work their way through the myriad more likely, but harder to pinpoint possible causes. In the meantime, physiotherapy works and helps - you might not get a diagnosis for years, if you ever get one (and in the meantime, physio might have made the early issues and need for any kind of "diagnosis" irrelevant).

Thanks so much for your reply xx

I agree with everyone else who suggests that you try not to guess what the paed was alluding to when "muscle disease" was mentioned - I don't think saying something that vague was very fair to you to be honest.

My daughter has one of the "nasty" diseases, and the short answer I can give you is whatever it is or is not, you will get through. It may not be easy, and there will times you are positive you'll lose your mind, but you will survive.

Diagnostically, you can expect blood tests, possibly things like MRI, maybe even muscle, nerve and skin biopsies. They might want to do a test called an EMG - it is very unpleasant, and I strongly recommend you make sure that the results of the test have the potential to change his treatment before you agree to it. Neuromuscular consultants like to use it as a matter of course, but it is very hard on the child.

I hope you get answers, but as many of the other mums here can say, often the answer is "well, we know what it's NOT".

Thanks for replying bee mom. We went for the blood tests today and that was unpleasant in itself as they could get veins in either arm. They did mention that test but I won't be agreeing to it. Can I ask what your experienced if u don't mind please?

Should read could not..

Glad the bloods are over it was horrible😞anyone have any idea if a cvs test that was clear would negate a lot of the muscle diseases?

I know this is an old forum, but George, I was wondering how it turned out for you? My daughter has similar problems and we are waiting for the sma results.