• Posted by Susan on April 8, 2021 at 3:44 pm

    Hello, my name is Susan and my husband is currently being tested. His symptoms began several years ago, as an adult, and is progressively getting worse. So far, the genetic testing they have done, gave no answers, his EMG came back normal, yet, his specialist still feels he may have something going on. My husbands symptoms include recurrent rhabdomyolosis, muscle cramping, twitching, weakness, which usually comes on after any type of exercise. Heat intolerance, and more I can’t think of. If the genetic tests come back normal, and EMG, and he also had a muscle biopsy, is that it then? I really don’t see what more they can do for him.
    thank you all in advance. I feel so awful and helpless for everyone. Thank You

    Pete Barron replied 3 years, 3 months ago 2 Members · 1 Reply
  • 1 Reply
  • Pete Barron

    April 9, 2021 at 3:00 pm

    Hello Susan,

    Check to see if your husband was checked for Myotonic Dystrophy type 2. Type 1 is very common, so is often tested for, but type 2 (which I have) is on a different chromosome, which is often overlooked. The state of modern medicine is that they have to test for every specific thing. There is no wholistic genetic screening to rule something out.

    It’s helpful to know what we have so we can predict the progression even if there is no cure or good treatment. MS should also be looked at as the symptoms are similar. Good luck on your search!

    I was undiagnosed for many years before I found out what I have. I had given up testing for finding what I have and just kept testing through trial and error for what helped me and what made things worse. By the time I was tested for the proper chromosomal abnormality, I had a whole list of things that helped or didn’t that fit nicely into the profile when I finally got it. My primary Doc at the time told me that many things are never diagnosed correctly and that to find out what worked and what didn’t was often more helpful.

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