Hi,

Honestly, I don't know if real statistics incidence or prevalence
focused on dyferlinopathies were studied. It may be a research
subject still going on, right now, while researchers are collecting
informations and patient are ABLE to be diagnosed.
If something is, aren't you thinking that the NIH might help?
(usually government like survey) You might ask/ suggest them about it?

These are so rare diseases. The clinical patterns are so variable,
and the diagnostic tools facilities are so recent (2000). The
difficulties for the researchers is to diagnose, especially for the
sporadic cases whereas the disorder is known to have a recessive
autosomic hereditary. --and certainly, more difficult it is to count.
More, the misknowledge of the physicians doesn't help because it's
often considered like a researcher affair.
Most of the time people are misdiagnosed, and dysferlin deficiency
are noticed fortuitous.
In France, it is so rare that we call it an orphan disease.

If Brad is refering to the Eymard studies in 2000? On 21 patients
with Myoshi type based on clinical criterions as a distal myopathy,
only 5 of them were linked to chromosome 2 and I don't know if they
were tested with the dysferlin test after.

Surfing on the internet and in the literature, what you can find is
some very vague and blurred figures showing our ignorance.
The only thing, I'm sure is, in all cases, those figures are wrong
because more and more people will be diagnosed with the advancement
of the technology.

This is what I found

The prevalence in the world of:
LGMD –all foms included-- is estimated : 1/100 000.

LGMD 2B/ Miyoshi Myopathy = dysferlinopathies would represent 1% of
the recessive LGMD which % is less than 10 %, rate of the dominant
LGMD.
It also represents 1/3 of the distal myopathies.( well yeah 7/21)


So the half thousand is not very far...and yes statistics should be
needed.

Phalevi