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Re: [Myotubular_Myopathy] Q's about CNM/MTM - Also a question for Abbie

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  • Toni Abram
    No problem Jenna. Regarding what you say about Allie s case seeming unlike a lot of the boys with x-linked - I think this is quite possible and it does not
    Message 1 of 17 , Jan 7, 2008
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      No problem Jenna.
       
      Regarding what you say about Allie's case seeming unlike a lot of the boys with x-linked - I think this is quite possible and it does not mean she is not x-linked.  I agree it is difficult to work it out and I think you might go round in circles trying.  :-)
       
      I think I have posted this before but you may see more similarities with Keely, who is an x-linked manifesting carrier, see http://www.centronuclear.org.uk/theinformationpoint/keely.html.  If you are interested, I could see if I could put you in touch with Keeley's mum.
       
      There is also some information at http://www.muscular-dystrophy.org/about_your_condition/manifesting_carriers/index.html and in issue 31, page 9 of Target magazine, see http://www.muscular-dystrophy.org/information_resources/publications/target_md.html to go with Connie's information.
       
       
      Toni xx
       
       
       
       
      ----- Original Message -----
      Sent: Sunday, January 06, 2008 8:58 PM
      Subject: Re: [Myotubular_Myopathy] Q's about CNM/MTM - Also a question for Abbie

      Thank you Toni. I've already sent blood and muscle
      samples to Beggs Laboratory but I guess that's all I
      can do for now. Although it was muscle that I sent was
      from Allie's first biopsy when it was poorly cut. It
      had to be redone. I'm not sure yet what I want to do
      with the remaining muscle from the second muscle
      biopsy. I asked her neurologist if I could send it to
      beggs Lab but she didn't think it would be a good
      idea. She wanted to keep it just in case they needed
      to use it for further testing in the future.

      ~Jenna~

      --- Toni Abram <toni.abram1@ btopenworld. com> wrote:

      > Hello Jenna
      >
      > If you want to find out more about genetic testing,
      > see
      >
      http://centronuclea r.org.uk/ theinformationpo int/genetic_ testing.html
      >
      >
      > Toni xx
      >
      >
      > ----- Original Message -----
      > From: Abbie harrison
      > To: Myotubular_Myopathy @yahoogroups. com
      > Sent: Sunday, January 06, 2008 2:01 PM
      > Subject: Re: [Myotubular_ Myopathy] Q's about
      > CNM/MTM - Also a question for Abbie
      >
      >
      >
      > Jenna,
      > From what I was told, CNM/MTM are the same
      > thing. You can find out which type she has through
      > genetic testing. For Kaylee, it was a process of
      > elimination. They are not 100% sure that she has
      > the recessive, which is ARMTM, but they seriously
      > doubt that she has the dominant, since dominant
      > seems to appear later in life and get worse as it
      > goes. Now I am not an expert, but that is what I
      > was told. Truth be told, they do not even know
      > where Kaylee's came from. There is not history on
      > either side of the family so they actually believe
      > hers was a spontaneous mutation. Your best bet on
      > finding out would be to speak with a geneticist. I
      > hope this helps.
      > Abbie
      >
      > jennaleigh85 <jennaleigh85@ yahoo.com> wrote:
      > Can anybody tell me what the difference between
      > Centronuclear Myopathy and
      > Myotubular Myopathy is? I can't seem to find a
      > straight answer. I plan on asking my
      > daughters neurologist but her next appointment
      > isn't for awhile and well, I'm very
      > curious.
      > Also, how do you find out whether it's the
      > dominant or recessive form and how do
      > they differ?
      > If anyone knows answers to any of these
      > questions please let me know! Meanwhile
      > I'll be googling it on the internet.
      > Abbie, ARMTM? Does that stand for autosomal
      > recessive myotubular myopathy? If
      > so,how did you find that out?
      > Sorry for the 20 questions guys,
      >
      > Love you all! Thanks for the support!
      >
      > ~Jenna & Allie~
      >
      >
      >
      >
      >
      >

      ____________ _________ _________ _________ _________ _________ _
      Never miss a thing. Make Yahoo your home page.
      http://www.yahoo. com/r/hs

    • patsarah2006
      There is primarily one testing center in the US that tests for MTM1 and that is the University of Chicago. I spoke with the genetic counselor from there last
      Message 2 of 17 , Jan 7, 2008
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        There is primarily one testing center in the US that tests for MTM1 and
        that is the University of Chicago. I spoke with the genetic counselor
        from there last summer. She said they diagnose about 10 positive MTM1
        cases per year for about the last 10 years. Sarah
      • Jenna Winn
        Tony, Thank you for showing me Keelys story! I was SHOCKED to see the similarities! If I wrote out Allie s story it would sound very much the same. I thought
        Message 3 of 17 , Jan 7, 2008
        • 0 Attachment
          Tony,
          Thank you for showing me Keelys story! I was SHOCKED
          to see the similarities! If I wrote out Allie's story
          it would sound very much the same. I thought that
          Allie would be more likely have the recessive form but
          now I'm really not so sure. You are right, I'm going
          around in circles. It's time for me to just relax and
          wait for the x-linked test results to come back. If
          you could get me in contact with Keely's mom that
          would be great! I'd love to hear from her!
          ~Jenna~

          --- Toni Abram <toni.abram1@...> wrote:

          > No problem Jenna.
          >
          > Regarding what you say about Allie's case seeming
          > unlike a lot of the boys with x-linked - I think
          > this is quite possible and it does not mean she is
          > not x-linked. I agree it is difficult to work it
          > out and I think you might go round in circles
          > trying. :-)
          >
          > I think I have posted this before but you may see
          > more similarities with Keely, who is an x-linked
          > manifesting carrier, see
          >
          http://www.centronuclear.org.uk/theinformationpoint/keely.html.
          > If you are interested, I could see if I could put
          > you in touch with Keeley's mum.
          >
          > There is also some information at
          >
          http://www.muscular-dystrophy.org/about_your_condition/manifesting_carriers/index.html
          > and in issue 31, page 9 of Target magazine, see
          >
          http://www.muscular-dystrophy.org/information_resources/publications/target_md.html
          > to go with Connie's information.
          >
          >
          > Toni xx
          >
          >
          >
          >
          > ----- Original Message -----
          > From: Jenna Winn
          > To: Myotubular_Myopathy@yahoogroups.com
          > Sent: Sunday, January 06, 2008 8:58 PM
          > Subject: Re: [Myotubular_Myopathy] Q's about
          > CNM/MTM - Also a question for Abbie
          >
          >
          > Thank you Toni. I've already sent blood and muscle
          > samples to Beggs Laboratory but I guess that's all
          > I
          > can do for now. Although it was muscle that I sent
          > was
          > from Allie's first biopsy when it was poorly cut.
          > It
          > had to be redone. I'm not sure yet what I want to
          > do
          > with the remaining muscle from the second muscle
          > biopsy. I asked her neurologist if I could send it
          > to
          > beggs Lab but she didn't think it would be a good
          > idea. She wanted to keep it just in case they
          > needed
          > to use it for further testing in the future.
          >
          > ~Jenna~
          >
          > --- Toni Abram <toni.abram1@...>
          > wrote:
          >
          > > Hello Jenna
          > >
          > > If you want to find out more about genetic
          > testing,
          > > see
          > >
          >
          >
          http://centronuclear.org.uk/theinformationpoint/genetic_testing.html
          > >
          > >
          > > Toni xx
          > >
          > >
          > > ----- Original Message -----
          > > From: Abbie harrison
          > > To: Myotubular_Myopathy@yahoogroups.com
          > > Sent: Sunday, January 06, 2008 2:01 PM
          > > Subject: Re: [Myotubular_Myopathy] Q's about
          > > CNM/MTM - Also a question for Abbie
          > >
          > >
          > >
          > > Jenna,
          > > From what I was told, CNM/MTM are the same
          > > thing. You can find out which type she has
          > through
          > > genetic testing. For Kaylee, it was a process of
          > > elimination. They are not 100% sure that she has
          > > the recessive, which is ARMTM, but they
          > seriously
          > > doubt that she has the dominant, since dominant
          > > seems to appear later in life and get worse as
          > it
          > > goes. Now I am not an expert, but that is what I
          > > was told. Truth be told, they do not even know
          > > where Kaylee's came from. There is not history
          > on
          > > either side of the family so they actually
          > believe
          > > hers was a spontaneous mutation. Your best bet
          > on
          > > finding out would be to speak with a geneticist.
          > I
          > > hope this helps.
          > > Abbie
          > >
          > > jennaleigh85 <jennaleigh85@...> wrote:
          > > Can anybody tell me what the difference between
          > > Centronuclear Myopathy and
          > > Myotubular Myopathy is? I can't seem to find a
          > > straight answer. I plan on asking my
          > > daughters neurologist but her next appointment
          > > isn't for awhile and well, I'm very
          > > curious.
          > > Also, how do you find out whether it's the
          > > dominant or recessive form and how do
          > > they differ?
          > > If anyone knows answers to any of these
          > > questions please let me know! Meanwhile
          > > I'll be googling it on the internet.
          > > Abbie, ARMTM? Does that stand for autosomal
          > > recessive myotubular myopathy? If
          > > so,how did you find that out?
          > > Sorry for the 20 questions guys,
          > >
          > > Love you all! Thanks for the support!
          > >
          > > ~Jenna & Allie~
          > >
          > >
          > >
          > >
          > >
          > >
          >
          >
          >
          __________________________________________________________
          > Never miss a thing. Make Yahoo your home page.
          > http://www.yahoo.com/r/hs
          >
          >
          >



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