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Glycogen storage

Posted , 3 users are following.

kurt19299
kurt19299

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.

0 likes, 9 replies

9 Replies

  • andrewwakelin
    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.

    • andrewwakelin
      andrewwakelin kurt19299

      Posted

      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
    will24 kurt19299

    Posted

    i have a muscle disorder and for me the process was elevated ck levels, elevated potassium levels, and eleavted liver test, which appeared to be releated to muscles. which was followed up with an EMG which showed a problem, then another EMG from a more trained specalist which also showed their may be a problem, then finaly a muscle biopsy which ended up showing multi-minicore myopathy and not a metabolic disorder like the doctor though.
    • will24
      will24 kurt19299

      Posted

      daily acid reflux all my life, history of breathing problems with colds in childhood, muscle spams out of the blue in childhood, and progressive muscle weakness, fatigue that last 4 or 5 years which is what prompted me to try and find help. swollowing problems, eye weakness, sinuses clogging etc.
    • will24
      will24

      Posted

      also episdoes of raised ck ( between 1000-5000)
    • kurt19299
      kurt19299 will24

      Posted

      This sounds exactly like what im going through.. doctors cant pick up on anything though
    • kurt19299
      kurt19299 will24

      Posted

      My list of symptoms and tests that have been done is quite long haha
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