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  • pinksarah21
    Hi guys. Patrick and I have been working with Maggie Wahl, the Medical and Science Editor at the MDA to get some news out about CNM/MTM. We have success!
    Message 1 of 4 , Oct 4, 2006
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      Hi guys. Patrick and I have been working with Maggie Wahl, the
      Medical and Science Editor at the MDA to get some news out about
      CNM/MTM. We have success! Here is the recent publication:

      http://www.mdausa.org/research/060928cnm_mtm.html

      Spectrum of Severity Suggested In
      Myopathies With Central Nuclei

      Mice bred without genes for the protein known as gamma-actin develop
      a muscle disease that resembles human centronuclear myopathy (CNM),
      a muscle disorder characterized by weakness and misplacement of cell
      nuclei toward the center of the fiber, according to researchers at
      the University of Wisconsin and the University of Maryland. In
      humans, the gamma-actin gene is located on chromosome 17.

      Researchers coordinated by MDA grantee James Ervasti, now at the
      University of Minnesota-Twin Cities (although he performed this work
      while at the University of Wisconsin-Madison) published their
      findings in the September issue of Developmental Cell.

      The findings may add to the diversity of genetic mutations and
      protein abnormalities that underlie CNM, which, until recently, was
      considered to be synonymous with myotubular myopathy (MTM), so named
      in the 1960s because the muscle fibers' appearance superficially
      resembles that of immature fibers called myotubes.

      In 1997, mutations in the gene for myotubularin, on the X
      chromosome, were identified as the underlying problem in MTM, now
      generally thought of as a severe form of CNM.

      Last year, a team that included Alan Beggs, an MDA research grantee
      at Children's Hospital in Boston, identified mutations in the gene
      for dynamin 2, on chromosome 19, as a cause of dominantly inherited
      (only one gene mutation can produce disease symptoms) CNM. This form
      of the disease is generally somewhat milder than the X-linked,
      myotubularin-related form.

      So far, no human patients with gamma-actin-related CNM have been
      identified, although Ervasti and colleagues write that their
      findings "support the screening of genetically undiagnosed patients
      for [gamma-actin] mutations."
    • Wendy
      I saw Anne today and she has asked me to post this message on her behalf. I m happy to continue passing on messages to Anne - as I think it keeps her spirits
      Message 2 of 4 , Oct 4, 2006
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        I saw Anne today and she has asked me to post this message on her behalf. I’m happy to continue passing on messages to Anne – as I think it keeps her spirits up and gives her a lot of strength.  For those of you who are wondering what this is about, very sadly, Anne’s little boy Tom had a major setback about a month ago with cardiac and respiratory failure but was fortunately revived quite quickly by a paramedic team.  Take care, Wendy.

         <

        (Message over 64 KB, truncated)

      • DARLENE MILLER
        Hi Wendy, Let Anne know we are thinking and praying for Tom and her. We know how she feels, but there is hope and each day shows signs of improvement. A
        Message 3 of 4 , Oct 4, 2006
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          Hi Wendy,
           
          Let Anne know we are thinking and praying for Tom and her. 
          We know how she feels, but there is hope and each day shows
          signs of improvement.  A finger moving, an eye blinking, etc.  it
          is progress, no matter how small.  Connor had 4 cardiac arrest
          in one month.  He was totally wiped out.  Doctors had no hope. 
          We kept the faith and hope alive.  It has been 4 months since
          his last cardiac arrest and other people are finally seeing the
          improvements we have seen all along.  I guess what I'm trying to
          say is not matter what other people/doctors say, no matter
          how slow the progress is, things will get better with time.  Doctors
          always tell us they don't know how much time the boys have.  I
          say they have all the time in the world.  They always look at me
          funny, but you can't put a time frame on improvement and no two
          kids are the same.  As I can tell you with Kyle and Connor.  They
          have the same disease, but do things at different progressions.
          What one is strong in the other is weak.   Only time can heal what
          needs healing.  OK, I'm starting to ramble.  Again, let Anne know
          they are in our thoughts and prayers. 
           
          Take care,
          Darlene
             
          ----- Original Message -----
          From: Wendy
          Sent: Wednesday, October 04, 2006 3:31 PM
          Subject: [Myotubular_Myopathy] Message from Anne

          I saw Anne today and she has asked me to post this message on her behalf. I’m happy to continue passing on messages to Anne – as I think it keeps her spirits up and gives her a lot of strength.  For those of you who are wondering what this is about, very sadly, Anne’s little boy Tom had a major setback about a month ago with cardiac and respiratory failure but was fortunately revived quite quickly by a paramedic team.  Take care, Wendy.

          Dear All,

          Thank you so much for all your good wishes and kind words, passed onto me by Wendy.  Sorry not to have been in touch personally but I have taken the decision not to turn on my computer during this period of full-on nursing with Tom.  Sadly, Tom is still extremely frail and has only regained the muscles of breathing and coughing – he can’t even move much more than a finger yet – and this was a boy who a month ago was zooming round the place on his trike.  We hope this is just a matter of time, but there are many questions unanswered and lots of setbacks as well as slow improvement.  Tom needs such gentle care and all our time and we just look forward to getting our cheeky, funny, happy little boy back soon.  Meanwhile, we just watch, wait and pray.  We will keep you posted and thanks again for all your love and best wishes.

          Anne, Andrew, Sophie and Tom Lennox (UK)

        • pinksarah21
          Wendy, Please let Anne know that we will keep her, Tom, and their family in our thoughts and prayers. Here s hoping for a smooth recovery. -Pat and Sarah (New
          Message 4 of 4 , Oct 4, 2006
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            Wendy, Please let Anne know that we will keep her, Tom, and their
            family in our thoughts and prayers. Here's hoping for a smooth
            recovery. -Pat and Sarah (New Jersey, USA)
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