May 12, 2019 at 10:02 pm #177697Hi 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 10May 13, 2019 at 12:42 pm #177720Reply 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?CogniumnoseParticipantPosts: 0Joined: 26/04/2019May 13, 2019 at 2:25 pm #177728Reply To: Hi new to forum
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 Adamssar78ModeratorPosts: 2,246Joined: 05/03/2015May 13, 2019 at 5:17 pm #177730Reply 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 DystrophyMay 13, 2019 at 9:19 pm #177732Reply 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)ModeratorPosts: 1,002Joined: 20/09/2010
You must be logged in to reply to this topic.