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Help Please: is it possible to have 100s of CTG repeats without it being DM1?
Long story short, last year (2019) after 2 years of progressive symptoms affecting my muscles I was finally tested for muscular dystrophy. My EMG test showed some signs of muscle damage (I’m really not sure how much) and DNA tests for both DM 1 & 2 were done.
Both tests state that a “Diagnosis of DM is very unlikely”, HOWEVER, on the fine print of the DM1 Results Form is says that “CTG repeats of more than 100s were found but cannot be categorized”. Does anyone actually know what this means?
It’s been six months since I got these results & I’m still four months away from getting into the Neuro Muscular Clinic & having the report looked at by someone who specializes in this field. I’m in a small town & both my local GP & the Neurologist (who does not specialize in neuromuscular diseases) I saw can’t give me an answer to these test results.For the last few months I’ve been trying to believe that a DM1 diagnosis is unlikely but I was back in the hospital over the holidays with symptoms that seem very much to follow the progression of DM1.
Neither my local doctors or all my searches on Google are giving me any sort of understanding on this. If anyone has had a similar experience or knows something about “uncategorized CTG repeats” & what it means, I would be really grateful.
Thank you so much!
BekahReply To: Help Please: is it possible to have 100s of CTG repeats without it being DM1?Hello and welcome to the forum with a very specific problem, which does also illustrate the difficulty we all face in getting a specific diagnosis.
My own searches turned up quite a few explanatory offerings, which is helped by removing the s from the 100. However, I am very much against using Mr Google as a diagnostic source as many folk would misinterpret the findings. I will point you in the direction of one entry but I would caution you strongly to read this with your GP so he/she can give some insight to your own particular problem.https://en.wikipedia.org/wiki/Trinucleotide_repeat_disorder
Mike
So many love songs, so little love.
Reply To: Help Please: is it possible to have 100s of CTG repeats without it being DM1?Hello and welcome to the forum with a very specific problem, which does also illustrate the difficulty we all face in getting a specific diagnosis.
My own searches turned up quite a few explanatory offerings, which is helped by removing the s from the 100. However, I am very much against using Mr Google as a diagnostic source as many folk would misinterpret the findings. I will point you in the direction of one entry but I would caution you strongly to read this with your GP so he/she can give some insight to your own particular problem.https://en.wikipedia.org/wiki/Trinucleotide_repeat_disorder
Mike
So many love songs, so little love.
Reply To: Help Please: is it possible to have 100s of CTG repeats without it being DM1?Hi Mike! Thank you for following up with this! It’s most appreciated! I’ll definitely be looking into this further.
Reply To: Help Please: is it possible to have 100s of CTG repeats without it being DM1?When I was diagnosed with Becker MD in 2003, the first thing the consultant said was “don’t go home and look at the internet!”, which of course I did lol.
Reply To: Help Please: is it possible to have 100s of CTG repeats without it being DM1?Strange that one Ranald. I was told exactly the opposite as my GP said they knew nothing about it. Perhaps because I had clinical experience so they accepted I could use the internet effectively. I still say that Dr google can be harmful.
Mike
So many love songs, so little love.
Reply To: Help Please: is it possible to have 100s of CTG repeats without it being DM1?My GP took the blood sample, I was diagnosed at the Neurology clinic at my local hospital. The two consultants that jointly delivered my diagnosis were genetics and neurology consultants. I’m quite sure my GP knew next to nothing about MD too.
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