Discussions By Condition: Muscle conditions

Need help with McArdle's diagnosis

Posted In: Muscle conditions 3 Replies
  • Posted By: lila10272
  • October 21, 2006
  • 03:03 AM

I hope someone on here can help me or have experienced this disease.

I have a 7 year old daughter that a year 1/2 ago started experiencing acy mucles in her legs arms and neck.Nothing major just aggravation. Had her checked and her ck levels were 60000 and her liver enzymes were 450. she was then diagnosed with rhabdomyolysis. This has been going on off and on now with elevated ck levels from 500-35000..
no worsening pains just same symptoms but are not everyday complaints.

we were referred to a genetic specialist who did a genetic test and said she had gsd v known as mcardles disease..everything i have read says she would get these horible cramps when doing any exercise but thats not our case.

she can perform normal in gym with no complaints ride bicycles with no complaints and then sometimes she will complain they hurt a little but never enough to cry.

last week she did no exercise beside normal recess at school,had no illness but came home complaining her arms neck stomach and legs were hurting but still went about playing. we went ahead and had her checked because she told us several times they ached but not severe and her ck levels were 34800 and her ckmb levels were 51.

is there any diagnosis similar to mcardles disease that could cause this or is this normal for mcardles

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3 Replies:

  • I am a 25year old male. I have the same thing...I have seen 6 doctors and been hospitilized for potential kidney failure caused by high CK, but I have had no luck finding a DR that will diagnose me. My insurance will not keep paying if there is no diagnosis. I am in the same boat as your Daughter.Ethan
    Anonymous 42789 Replies Flag this Response
  • I am 28 and have McArdles Syndrome.For info seehttp://www.agsd.org.uk/http://www.agsd.org.uk/index.php?option=com_content&task=view&id=17&Itemid=38you should find this usefyl.The good news is is that both of you have been diagnosed relatively young and therefore have a better longterm outlook.Good luck.This may also be usefulhttp://members.aol.com/itsgumby/
    Anonymous 42789 Replies Flag this Response
  • I also have McArdles I found out when I was 16 with a muscle biopsy. There are some Dr.s here is Springfield, Il. at SIU Medical Center that know about this all to well. I'm now 38 year's old and I have 3 kids. I don't where you live but if you are near here. Dr. Schnider I think is the kids Doc. The main number is 1-217-788-3000 for infromation. Sorry don't have the number off hand for you. Hope this can help. If you want ask any question at all you can reach me at Gypsymom4kids@aol.com. I've been threw it all with this disease. I might be able to help. The best thing is to get to a doctor to get this confrimed. I wish all of you the best of luck.
    Anonymous 42789 Replies Flag this Response
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