congenital myopathy

Hi, am looking for advice re my daughter at 18 months who is not able to walk or stand unsupported, apart from for a few seconds. She was late to crawl at 13 months and has been diagnosed with low tone with a view to a myopathy. A very placid but cautious baby, all her other skills are good - fine motor and language is excellent, about 170 words so far. Saw a Paed at 15 months and he suggested to give her more time. We see him again in 3 weeks but I feel we need some direction re physio and how to help her. He said if it is a myopathy then it is nerve related so physio does not help that much?
We cant get an appt witha paed physio for another month but Id appreciate advice till then. I worry we are doing little while we wait, although of course we are encouraging her as much as possible. She says"walk" and likes to walk while you hold her hands, but her feet are splayed and so wobbly and if you let go she crumbles to the floor.
Grateful for your thoughts
:)

hi
first of all you dont have to worry "to" much about the dalayed walking. some childs need a bit longer. if you have the feeling that the muscle tone is decreased you should definately consult a physio. physiotherapy is able to increase the muscle tone and also to improve motor skills etc. a good physio also might find out other conditions or reasons for the dalying.
for example has your kid ever had problems with the cervical spine, i.e. kiss syndrome or torticollis myogenens. sometimes pain can cause problems with the development. also hip joint should be clear of any malformations.
but most important is to find a good physio who can sort out the problem. from my experience its better than most physicians!! sorry doc´s!!
good luck and all the best for your kid!!

Hi there

I'd be a little more proactive than just seeing a physio - I'd be considering a new paediatrician if I were receiving advice like that. My interpretation of what your paediatrician said may be awry, but it's my understanding that he was saying if the physiotherapist can't address the underlying pathology, then seeing one is a waste of time?? If that were so, then most of my career has been a waste of time! Ouch!!

I do agree with wutti that an appointment with a paediatric physio is a great idea at this stage and I don't think that another month or so with no therapy is going to be worth getting worried about. However, it is my understanding that if a kid has low tone that any positive alterations to that tone brought about by physiotherapy will be transient at best.

Now, you did mention about your child's motivation and ability to walk with hands held, but I would like to ask does she do any independent standing at all? Either with couch support or without. And, is she cruising yet?? (ie, sideways walking around the furniture)

Hi, thanks for your advice so far.
Yes, she is standing and leaning on the couch heaps and cruising around the furniture all the time. She can stand for a few seconds alone but thats all. Her motivation is still good..she often says "walk?" and wants you to hold her hands while she walks. If you let her hands go, she falls straight away though. Her feet are at such an angle that they are not flat enough to walk steadily on.
We see the paed again in 1 week but have made an appt with a paed physio also in 2 weeks..

hi,
i think what you need is a clear and exact diagnosis of your child's condition. there are a lot of myopathies that differ in their course progression. and diagnosis is half the way to treatment.
go to see the doctor and ask him to be clear and exact, there are certain tests to do to determine if somebody has a certain condition. And whatever the myopathy turns out to be a physical therapist can absolutely help.
good luck

Hi!
The only way to diagnose a congenital myopathy is with a muscular biopsy and a DNA analysis. If these have not been done yet, your child is just diagnosed as low tone.
Congenital myopathy is a muscular disease located on the muscle's fibers, and is not evolutive. It means that some muscles are weak and will remain so all her life. They can't be strengthened and there is no known cure for it. The treatment will consist in maintaining the trophicity of these muscles (hot/cold bath to increase the blood flood, massages), and their length as they will tend to tighten.
Low tone would benefit of a treatment including sensory integration and selective strenghtening, and neurodevelopmental techniques.
For these reasons, it is very important that you get a definitive diagnosis for your child.
At this stage what I would suggest for your child would be:
1 Baby massage
2 A pair of little boots with a stiff counter to help her stabilize her feet/ankle while standing
3 High kneeling with or without support, walking on knees
4 Pool (the water must be at least 30° or use a wet suit), swimming will help the blood flood, coordination and strenghtening if possible, use an appropriate support.

All these will help your child to progress while awaiting for the diagnosis, whatever it is.

Hi if I can chip in from a Physiotherapist / Feldenkrais practitioner perspective. Your posting warmed me, because of your comment that your daughter asks to 'walk'. Wanting to do something is a powerful place to be. She sounds very motivated, and if she want to do something, I'm sure she will, in her own time.

However, it maybe she doesn't have the buidling blocks in place to accomplish walking independently. We all go through developmental stages and steps, and a tour of the internet will swiftly enable you as a parent to identify where she is at. Can she roll over? Sit independently? Crawl? Is she weak all over? or are her legs weaker than her arms? Does she cruise the furniture? Is one side weaker? Does she has some toys that you can buy easily on the net to help her? Like this site

or like this rocker horse


From your comments I am not sure if you are a Physiotherapist, or here seeking advice.
However, as a parent, I do know that all children are different and have their own specialisms, not all of which need strong muscles. It sounds from your comments that she is beginning to speak, which is quite early, so perhaps she will have an area of specialism to compensate for her otherwise not so great side. She will still be exploring, but maybe she is exploring more with her cognitive aspects. Movement enables us to fall down, and go to touch things we want to, it raises visual field, opens us to a bigger world,

Just a tip, wherever you are in the World, you will almost certainly be able to find a Physiotherapist, who is also a Feldenkrais practitioner, and you may wish to explore this slightly different empowering approach. However, there are also many Feldenkrais Practs, who are not Physiotherapists, and all will have something to give.
Feldenkrais practitioners work with the entire individual and not the 'condition'
Good luck

Hi.
A lot of very good information given here. I like the one about Water. swimming for an 18 month old is hard!!! i would suggest speaking to a physio that works with the Halliwick method. Theres so much to be achieved with this therapy and the results are very good.....eg improvement in ballance -because the body falls slower against the water resistance, the brain has longer to react and this in turn has an effect out of water, Muscle lengthening and strenthening, coordination training and a hell of a lot more.
Try this one-in Water your little girl can stand on your knees with light support from you starting with her shoulders under water, then over a period of time slowly raise her out a fraction and allow her during this movement to ballance herself. when you feel her losing it, lower her back down untill she gathers herself again. move nice and slow so that she dosn't panic. at first it's best to support her lightly under the arms. when shes got used to the exercise lower your hands to her waist, then hips, Thighs and knees. When her ballance has improved you can experiment by raising one of your Knees and sinking the other a cm or so to simulate uneven ground.
This is a very usefull exercise that you can do youself but i would go along with everything else thats been written and get a definate diagnosis.
good luck and happy parenthood.
tony