Guest guest Posted May 14, 2002 Report Share Posted May 14, 2002 Does anyone know if it is possible to have a blood test to diagnose type 3. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted May 15, 2002 Report Share Posted May 15, 2002 CMT type 3, also called Dejerine-Sottas syndrome (DSS), is caused by point mutations in the same genes that cause other types of CMT, such as: - PMP 22 (CMT 1A) - P0 (CMT 1B) - Periaxin (CMT 4F) - EGR 2 (CMT 1D) Therefore blood tests for these genes can diagnose the majority of CMT3 cases (not all of them, because there is also one more CMT3 gene on locus 8q23-q24 that has not yet been identified). Best regards, Paolo Vinci, M.D. > > > OUR VISION at is at work with meaning, followed by action! > > We define VISION as = Vitality Inherent in Stewardship with Informational > Originality relating to the Neuromuscular Disease (CMT). > > Charcot Marie Tooth Universal Services - that's - for you! > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted June 24, 2004 Report Share Posted June 24, 2004 , I am trying to find the articles on Type 3/Type 1. Hang on. As for " what does all this mean " - regarding changes - well genetic research is finding more and more types and mutations of known types and it is hard for me to keep abreast of all of this. (I am not a geneticist, and reading some of the technical research on genes makes my head spin!) I guess what this means is this is good - but perhaps somewhat confusing, as CMT seems to be harder to pin down exactly, like when I was diagnosed - then there weren't even Type 1 and Type 2. It was 'just CMT'! So this also means, great strides in research have been made and they continue! ~ Gretchen Quote Link to comment Share on other sites More sharing options...
Guest guest Posted June 25, 2004 Report Share Posted June 25, 2004 Hey Gretchen: No rush I know you will post the info when you find it and have a chance to notify us. Yes, I was in the same boat as you, there was no types when they diagnosed me some years, and years ago. I still don't know my type, but since there is no cure YET!! it doesn't really matter. Docs speculate I have type 3 or 4 so your post peaked my interest. Thanx for all info that you do post, and keep it coming. I have learned more here in about 2 years then all the years I visited my docs. Take care to all. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted June 25, 2004 Report Share Posted June 25, 2004 and Gretchen, I'll go you one better. The first three diagnoses I received from neurologists with excellent credentials listed me as " peripheral neuropathy of unknown origin. " I kept looking for a Neurologist that " knew more " than the others until I was finally referred to the Mayo Clinic in Rochester Minnesota, where Dr. Dyck (?), who writes many of the books on our conditions resides. To make a long story short, I left there with a diagnosis of " inherited peripheral neuropathy, " possibly Charcot-Marie-Tooth Disease or Guillon Barre (sure glad it wasn't the latter). It wasn't until three years ago that I was finally informed that my official designation was CMT type 2. Quote Link to comment Share on other sites More sharing options...
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