Glycogen storage
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Hi all new to the group,22yr old male and was just wondering what symptoms you have had to be diagnosed with glycogen storage disorder or disease.. and what tests were ran to confirm diagnosis as i am having multiple symptoms but the dr wont test me as he says its a rare thing and nothing to worry about. If you would like to know my symptoms just ask as its a long list haha thanks.
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andrewwakelin kurt19299
Posted
There are both liver GSDs and muscle GSDs, which are you thinking as they are very different. I have the most common (but still ultra rare) muscle types - McArdle Dsease (GSD5). These days it can usually be diagnosed by DNA testing from a blood sample. You could try reading the page "Could my problems be due to McArdle disease" on the web site of the AGSD-UK. A Google search should find it.
kurt19299 andrewwakelin
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andrewwakelin kurt19299
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It is best to read the page I referred to, but for me from age about 4 it was my legs getting heavy and within a minute or two being completly immobile. This happened when walking, especialy up hill or playing with friends. Muscle cramps, aching legs at night. Occasional very severe episodes with extreme muscle pain, locked up muscles and dark urine. Raised CK (a.k.a. CPK) from 1,000 to 100,000 (nemal amage <200 iu/L).
will24 kurt19299
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