My main question is: No Gower's sign= no Duchenne?

My son is 5 1/2, and we are waiting to see the pediatric neurologist.  Originally, when I brought him to the orthopedic specialist, I thought I would just be told he had something odd going on with his feet, and maybe he'd need braces or surgery.  When the ortho referred us to neurology, I started reading.  I realize now, without even having been tested yet, that my son has some form of muscle or nerve disease. It is undeniable.  Through lots of scary and painful reading, I am 95% positive that I will be told my son has either Duchenne, or Charcot-Marie Tooth.

He shows a lot of early signs of Duchenne. It's breaking my heart.  However, one sign that he does not seem to show, at least not at this time, is a positive Gower's sign.  He stands up with only slightly more effort than my healthy 7 year old daughter, and definitely doesn't "walk his hands up his legs".  He pushes off his thighs once to get that final "oomph" to stand up straight, but my daughter seems to do that too, so I think that's normal.

The signs that he shows seem to be shared by both Duchenne and CMT; easily fatigued when walking, trips and falls CONSTANTLY, foot drop, obvious foot and ankle weakness to where his left foot/ankle is beginning to collapse and deform by turning inward and walking on the edge, can't jump more than a few inches off the ground, collapses when he tries to jump on the trampoline....grabs the railing for dear life when going down the stairs (but he CAN walk up the stairs still without holding on.  He seems tired, but does it with little trouble), leg pain, pain when you tap on his achilles tendon....

So, my question to parents out there is, although I know nobody here (not even me... or Google.. I know...I'm making myself crazy) can diagnose my son,

      can you tell me if ANYBODY here had a child diagnosed with Duchenne who did NOT have a positive Gower's sign, or is that an easy way to rule out Duchenne?

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The Gower's movement doesn't seem to show up right away in all boys.  From the boys I've met, Duchenne seems to affect different boys at a different pace.  I'm only guessing, but it may be due to the underlying cause of the defect in the dystrophin gene - mutation, deletion, stop codon, etc.

My son didn't show it for a while, but now that he's 8, we see it more and more...  :(

I know it's extremely difficult, but I would wait until you have a discussion with the neurologist and further testing can be done.  While we waited for our son's diagnosis, I spent countless sleepless nights trying to find the answer on the Internet, but it only made me crazy.

I have prayed that God will give you strength and patience while you wait for the results.  I also pray that your son will not have Duchenne, but if he does, you have found a wonderful 'family' of support here at PPMD.

Hi Jackie,

Our son's Gower movement was that final "oomph" push that you describe so well. He never walked his hands up his legs. And when he started steroids he actually improved in strength enough to lose the Gower sign for a few years (7-10) before it returned. Though he had some earlier symptoms and I had taken him to 3 specialists, he was only diagnosed at 6 1/2., so there is wide variation between the boys, as Keith & Jill have stated. Try to stop researching on the net until you have a real reason because it does make one a little cuckoo and saps energy.

DMD, CMT, whatever will B will B. Godspeed to you and yours, Jackie. My thoughts are with you, it's so hard to wait.


Thank you, you're both very kind. It is so hard to just wait when it takes so long to even get to see the neuro... And sometimes, I think, a mama just knows. I don't 'know' exactly what, but as I watch him through "I'm referring you to a neurologist" eyes, my heart doesn't fear, my heart just sinks. Because its so obvious, I don't know how I could have thought it was an issue that was isolated to his feet.

Thank you for your kind replies. I'm trying to breathe, relax, and accept that it's going to be a long road until I know what my little guy is facing. If nothing else, this is making me see my own actions through a different lens-- being 'too busy' to play Legos or snuggle longer at night is no longer something I can allow in myself as a mama. I can't believe it ever was.
Thank you for giving me your time and your thoughts and prayers. Mine are with you, too.

hi Jackie. I have 3 years old son. He never showed Gowers sign and he was active. Never had some neuro muscular signs also. But his liver enzimes and CPK were very high, that was the reason to do genetic test for DMD. As we got the result we were shock.He has DMD But I am not a carrier. If yous son  deosnt have a Gower it doesn't mean he has not a DMD. Did you check his CPK?

They will be checking it when he sees the neuro. I will find out when the neuro appt is when I get a hold if them tomorrow. Originally they couldn't get us in until FEB.... But the ortho said he'd personally call and get us in sooner.
The neuro office called me on Friday, I assume to get us in sooner, but I missed the call. Argh...
Everyone is different. You're right, you can't diagnose your son..

You need a CPK, which any lab can do and give you an answer in 4 hours. Ask the orthopedic guy, or your family care doc to write a test order if you can't get into the neuro soon.

Good luck.

Thanks, Keith.  The neuro office called and said that the ortho asked them to put him in the next available urgent care slot, so he'll be seen on Thursday.  Hopefully I can get some more direction then.

       I know the only reply you would like is your son is fine, and hopefully he is. I have 2 sons with dmd. The first diagnosed 6 years ago and the second 2 months ago. The first showed gower's the second did not. any help i can be to you please don't be afraid to contact me.    best of luck  Bob

Thank you, Bob. At this point, all we know is that it is not Duchenne. They still suspect a form of genetic degenerative muscle or nerve disease, but have ruled out Duchenne based on the CK results.
I wish this were a quicker process. I just want to know what he's in for, and if we need to watch my baby for anything too.
It must have been quite hard for you to accept that not one, but two of your sons face Duchenne. I suppose if anything, this reminds us how previous our children are, and to treasure them completely.

    I wish the best of luck to you and your child. Anything I can do .... please don't hesitate.

Thank you. And love and strength and prayers to you and your boys.

My 2 year old is diagnosed with duchenne he does not have gowers sign however my 3 year old does and always has.

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