- 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:
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,
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."
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)
- 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 showssigns of improvement. A finger moving, an eye blinking, etc. itis progress, no matter how small. Connor had 4 cardiac arrestin one month. He was totally wiped out. Doctors had no hope.We kept the faith and hope alive. It has been 4 months sincehis last cardiac arrest and other people are finally seeing theimprovements we have seen all along. I guess what I'm trying tosay is not matter what other people/doctors say, no matterhow slow the progress is, things will get better with time. Doctorsalways tell us they don't know how much time the boys have. Isay they have all the time in the world. They always look at mefunny, but you can't put a time frame on improvement and no twokids are the same. As I can tell you with Kyle and Connor. Theyhave the same disease, but do things at different progressions.What one is strong in the other is weak. Only time can heal whatneeds healing. OK, I'm starting to ramble. Again, let Anne knowthey are in our thoughts and prayers.Take care,Darlene----- Original Message -----From: WendySent: Wednesday, October 04, 2006 3:31 PMSubject: [Myotubular_Myopathy] Message from Anne
I saw Anne today and she has asked me to post this message on her behalf. Im 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, Annes 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.
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 cant 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)
- 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)