Viewing 6 posts - 1 through 6 (of 6 total)
  • #177697
    Hi new to forum

    Hello I was diagnosed with muscular dystrophy at age 9 showed symptoms of muscular dystrophy they thought I had Duchene but test came negative Becker’s negative and limb girdle negative I’m 28 years old wheelchair bound.. with an undiagnosed form of muscular dystrophy is this possible? Really sucks not knowing at least which one you have.. can you guys recommend any other test I should do? Or maybe another muscle biopsy would help .. last one I did was at 10

    Bill55
    Participant
    Posts: 0
    Joined: 12/05/2019
    #177720
    Reply To: Hi new to forum

    Hi Bill that must be frustrating not knowing. There are advances happening all the time. I was diagnosed as a teen but not told what type (didn’t think I’d ever know) but things advanced and I found out when I was in 20s

    Hopefully others will come on with advice, maybe someone leading in the field research wise? That’s how I found out. Are there any neuromuscular clinics you could go to near you?

    :welcome:

    Cogniumnose
    Participant
    Posts: 0
    Joined: 26/04/2019
    #177728
    Reply To: Hi new to forum

    Hi Bill55

    I know it may not be much comfort but it is certainly not unusual to still be undiagnosed. Aged 5 I received a broad diagnosis of CMD and it took til I was 38 to have the sub-type identified genetically. Are you under a specialist hospital?

    A learning experience is one of those things that say, “You know that thing you just did? Don’t do that.” - Douglas Adams

    sar78 sar78
    Moderator
    Posts: 2,246
    Joined: 05/03/2015
    #177730
    Reply To: Hi new to forum

    Yes I have my neurologist she recently tested my blood for limb girdle but it was negative.. I’m actually in NY was thinking of getting a second opinion maybe might help.. Cause now there are more than 30 types of muscular Dystrophy

    Bill55
    Participant
    Posts: 0
    Joined: 12/05/2019
    #177732
    Reply To: Hi new to forum

    I too was diagnosed at around 9 with an MD. I had a few titles till finally in late 20s early 30s they retested old muscle samples they had stored before they had to destroy them (hospital was getting demolished and Dr was retiring) I was then diagnosed with CMD Rigid spine SEPN1 and everything ell into place. my life long symptoms all made sense.

    Its worth asking the question. Do they still have your samples in storage. can it be retested with modern techniques.

    when you where 9 they will have had less documented cases. With link able resources and technology. advances in computers etc. they have bigger databases to compare our gene faults. They may simply not have been others with your exact gene fault when you where 9. my diagnosis at 9 was “An MD peculiar only to me”

    """""""What doesn't kill you makes you stronger""""""

    Cat (Mod) Cat (Mod)
    Moderator
    Posts: 1,002
    Joined: 20/09/2010
    #177733
    Reply To: Hi new to forum

    Yeah thank you for that .. I’m gonna try and see if I can get a second opinion might be better off .. hopefully can lead to something

    Bill55
    Participant
    Posts: 0
    Joined: 12/05/2019
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