122Re: Number of People with Centronuclear Myopathy
- Oct 21, 2003Thanks 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.
--- In Myotubular_Myopathy@yahoogroups.com, redscootee@w... wrote:
> 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
> 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
> there may be quite a few more people who aren't registered with
> found one clinical article that states that 198 different mutations
> X-linked myotubular myopathy have been described in the scientific
> literature--that's 198 families really, because each mutation
> different. It's likely that there would be more than one person in
> of these families affected (that's usually how they know its
> so I'd guess at least 400 cases of the X-linked type.
> I couldn't find a good incidence figure (number
> 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 E. Hesterlee, Ph.D.
> Director of Research Development
> Muscular Dystrophy Association
> 3300 E. Sunrise Drive
> Tucson, AZ 85718
> (520) 529-5433
> -----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
> Sharon, I got an email from Toni in England wondering how many
> there were with Centronuclear Myopathy/ Myotubular Myopathy. One
> on the list had mentioned 200, Can you tell me where we might find
> if this information is accurate? Thanks for your help. pat <a
> href="http://www.wtv-zone.com/mdaww/indexzep1.html">Wide World of
- << Previous post in topic Next post in topic >>