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122Re: Number of People with Centronuclear Myopathy

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  • Toni Louise Abram
    Oct 21, 2003
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      Thanks Pat, this is really useful - it is good to hear from you.

      I was asked this question a couple of weeks ago by Michael McGrath -
      (he has Muscular Dystrophy and is getting ready to walk to the South
      Pole - he has already walked to the North Pole) but I think it is
      good for me to know this kind of stuff - I think people like to know,
      there is so little that the doctors seem to be able to tell us that
      anything is good.

      I posted a message on the MDA USA Ask the Experts page a few weeks
      ago but I might try emailing MDA UK too.

      How are you getting on - I was experiencing some serious computer
      problems around the time we last corresponded and I think I lost
      touch with a few people, so I am pleased to have found them here.

      Thanks once again Pat.

      Take care of you.


      Toni xx

      http://tonilouise.tripod.com



      --- In Myotubular_Myopathy@yahoogroups.com, redscootee@w... wrote:
      > Toni,
      > I sent an email to Sharon and here is what she got back to me with.
      > Nothing exact but at least an idea. Is there a place you could
      check the
      > stats for GB?
      > As you will see she says "hi".
      > take care pat
      >
      > Hi Pat,
      > We have about 300 people registered with us in the U.S., but I
      suspect
      > there may be quite a few more people who aren't registered with
      MDA. I
      > found one clinical article that states that 198 different mutations
      for
      > X-linked myotubular myopathy have been described in the scientific
      > literature--that's 198 families really, because each mutation
      listed is
      > different. It's likely that there would be more than one person in
      each
      > of these families affected (that's usually how they know its
      familial),
      > so I'd guess at least 400 cases of the X-linked type.
      > I couldn't find a good incidence figure (number
      affected/100,000/year),
      > so its almost impossible to calculate the number of people
      > worldwide--all those living in places with less than stellar medical
      > facilities will likely go without a diagnosis.
      > I hope this is helpful, and please tell Toni I said "hi"!
      > Best Wishes,
      > Sharon
      > Sharon E. Hesterlee, Ph.D.
      > Director of Research Development
      > Muscular Dystrophy Association
      > 3300 E. Sunrise Drive
      > Tucson, AZ 85718
      > (520) 529-5433
      > shesterlee@m...
      >
      >
      > -----Original Message-----
      > From: redscootee@w... [mailto:redscootee@w...]
      > Sent: Monday, October 20, 2003 11:43 AM
      > To: shesterlee@m...; redscootee@w...
      > Subject: Number of patients with Centronuclear Myopathy/ Myotubular
      > Myopathy
      > Sharon, I got an email from Toni in England wondering how many
      patients
      > there were with Centronuclear Myopathy/ Myotubular Myopathy. One
      person
      > on the list had mentioned 200, Can you tell me where we might find
      out
      > if this information is accurate? Thanks for your help. pat <a
      > href="http://www.wtv-zone.com/mdaww/indexzep1.html">Wide World of
      MD</a>
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