My daughter has just turned 6 yrs and has developed late onset tiptoe walking over the past 18 mnths and pes cavus feet. Prior to this she had normal gait. We have seen a paediatrician, who has diagnosed mild spastic diplegic cerebral palsy. She also had kinase levels taken as her grandfather had some form of muscular dystrophy (he died around 60 yrs old) - but this came back normal. Is it possible to diagnose c.p. from just a clinical examination , as I know many other conditions appear similar. She has not been offered an MRI / EMG - would it be reasonable to exect this? Also, could it still possibly be a muscular dystrophy type condition if kinase levels are normal?
I would appreciate your views on this very much. Many thanks.
p.s. she has seen a physio who gave stretching exersises - but she struggled to do them + now cannot do the heel walking exersise.
First of all, keep in mind that I am unable to diagnose you because I am unable to examine you, this forum is for educational purposes.
I share your concern that other conditions besides cerebral palsy (CP) can present with toe walking. With the symptoms of inability to heel walk, and pes cavus an alternative condition is possible charcot-marie tooth (CMT) neuropathy. As you suggest there are many different forms of muscular dystrophies [MD](although this is not a typical presentation of MD, which is large calf muscles and weakness with standing from a sitting position) and many genetic and protein test are available. That being said, tests such as MRI and EMG are not easily obtained in children. They often (almost always) require general anesthesia to complete the test, which is not without its own risk. I would recommend that you see a pediatric neurologist in a major academic center who will be able to decide which tests to send and if a EMG/MRI is indicated. If the EMG/MRI is decided on, then it can often be done on the same day, under the same anesthesia.
I hope this has been helpful.
Not a Dr, but in your shoes as a parent of a same aged girl I would be pushing for a more thorough evaluation. It sounds like her toe walking has probably shortened her muscles which is why she is probably no longer able to do the heel walking. Having said that, it would be worth taking her to a pediatric neurologist and probably an orthopedic specialist to rule out any other physical reasons for her change in gait.
I am not a doctor and I cannot advise you on your child. Often times we are faced with these particle absolutes and it is awful.
The situation with tip-toe walking is actually a common presentation in children with MD.
But-MD is hereditary, in many cases.
I have heard of certain types of MD that do have normal or slightly elevated levels of kinase in their blood, not all of them have sky high kinase levels. For instance, not only do I have CF, but a rare type of dystrophy, my kinase levels are normal. There are so many types of MD out there, just google muscular dystrophy and you will see that there are many many types with their own characteristics with different age onsets, symptoms etc... Has your daughter ever had a muscle biopsy? Alot of info can be gathered just from that, as well as EMG to see if it is nerve related or muscle related. Do you know what kind of MD your dad had? I am not saying that your daughter has MD, but more diagnostics needs to be done for sure to see what the exact cause of her symptoms are. I wish you luck as far as finding an answer. Sunny
Hi - many thanks for the comments. We saw the paediatrician last week + her muscles are a lot tighter + foot deformity is getting worse. She is booked to have an MRI and for Botox injections to the leg. The drs still think it is cerebral palsy, but I'm not 100% convinced as the symptoms only appeared in last 18 months. My feeling is it could be a form of charcot-marie-tooth (from what I've read on the net) we don't know the form of MD her grandfather had - he was my husband's father + he did not know him.
Many thanks for taking the time to share your comments - I appreciate it.
My daughter is now booked for an MRI under GA. She is also going to have Botox injections in her legs. If she did have CMT and not cerebral palsy, would the Botox have a beneficial effect?
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