Hi everyone, and thanks for filling in, Sharon!

Well, I managed to fall down last week and break my
leg...specifically, the upper portion of the tibia.  I think that
having lost a little flexibility in my knee might have contributed, so
i'm reminded of the importance of maintaining flexibility.

Anyway, surgery to repair the break seems to have been successful, and
I'm now recovering.  SInce it's hard enough to get around on two legs,
let alone being told not to put weight on one of them for the next two
months, I'm in a rehabilitation facility for the time being. The idea
is to maintain strength and flexibility so that when the bone is
healed I'll be able to resume walking.

Will let you know how this goes

Brad

> To that end, I'd like to ask about the cpk test. I've read
> conflicting views on the levels. Some have said that higher levels
> mean more muscle damage and others say this to be untrue. I know
I've also read that the number is very low at "end stages" . What's
the scoop?

CK (or CPK) is a muscle enzyme which leaks into the bloodstream when
muscles are damaged.  This can be caused by MD, although there are
many other possible causes as well.  Among the forms of MD which
typically show very high levels of CK are dystrophin deficiency
(Duchenne MD/Becker MD), sarcoglycan deficiencies (Limb girdle MD
types 2C, 2D, 2E, and 2F) and dysferlin deficiency (LGMD type
2B/Miyoshi myopathy)  Because most of these types of MD tend to show
fairly rapid progression, it seems like a lot of people seem to make
the association between higher CK levels and more severe disease.

Dysferlin deficiency is an exception to this rule, it has very high CK
levels but a slow progression.  Probably the common denominator is
that the sarcoglycans and dysferlin form part of the cell membrane of
muscle fibers (so it makes sense that the membrane would be easily
damaged if it's missing one of these) while dystrophin is indirectly
attached to the cell membrane.

the drop in CK in the "end stages" refers to patients who have very
little muscle left in their bodies, so there's not much muscle to leak
out CK.  This phenomenon doesn't appear to be relevant to dysferlin
deficiency, since patients retain a fair amount of muscle function for
decades after symptoms first appear.

So probably CK tends to get overplayed.  It's a good clinical
indication that there is a problem in the muscles, but it isn't
specific to MD, or to a particular type of MD.  ALthough there may be
some disagreement about this, the CK level probably shouldn't be taken
as a quantitative measure of how the muscles are doing.

Hi again folks and thanks for the greeting Sharon! Please forgive me
for not pointing out that my name is Dave and I am the inquisitive
type. To that end, I'd like to ask about the cpk test. I've read
conflicting views on the levels. Some have said that higher levels
mean more muscle damage and others say this to be untrue. I know I've
also read that the number is very low at "end stages" . What's the
scoop?

Welcome New Guy--

Brad Williams is usually online to greet newcomers to this list, but he has been
incapacitated recently (I understand that he is on the mend and should be back
soon).  I'm MDA's Director of Research Development and I can try to answer any
questions you might have on dysferlin deficiency research.  Otherwise, Brad is
really the expert!

Best Wishes,
Sharon Hesterlee

Sharon E. Hesterlee, Ph.D.
Director of Research Development
Muscular Dystrophy Association
3300 E. Sunrise Drive
Tucson, Arizona 85718

shesterlee@...
Phone: 520- 529-5433
Fax:     520- 529-5454


>Hi ! I've been diagnosed with type 2b for about a year now and I hope
>to learn as much as possible. Info is sparse on 2b and myoshi. I did
>learn quite a bit from Mr. Williams Dysferlin site though. I must say
>I do admire folks as dedicated and thorough as he seems. I don't have
>much to contribute yet but I'll try. Thanks!



[Non-text portions of this message have been removed]

Hi ! I've been diagnosed with type 2b for about a year now and I hope
to learn as much as possible. Info is sparse on 2b and myoshi. I did
learn quite a bit from Mr. Williams Dysferlin site though. I must say
I do admire folks as dedicated and thorough as he seems. I don't have
much to contribute yet but I'll try. Thanks!

Welcome to the group, Kendra. I can definitely relate to the thoughts
and feelings you express.  I imagine you are kind of overwhelmed right
now trying to come to terms with the diagnosis. Do write if you have
any questions/concerns.

Best wishes,
Brad

I am so glad to know that you all are here.
This has been such a long, emotionally and physically draining ordeal
for me and my family.  I was told 2 weeks ago that I suffer from
dysferlin dysfunction.  You would think that I would know a little
more since I am being seen by Johns Hopkins physicians and the
researchers at National Institutes of Health in Bethesda, MD.  And
this was my second muscle biopsy and the last one was done on 11/5/01.
I have had to make up my own treatment.
I too was diagnosed with PM in 1999.  The drugs almost killed me.
I am not sure what I should or should not do.  I am not even really
sure of how I feel.  No one really understands, since we look like
everyone else, except when we fall and can't get up. ( At least in my
case)

Thanks for being here and I thank God I found you,
Kendra
29 yo
Baltimore, MD

I just came across the following abstract, which reports a way of
diagnosing dysferlin deficiency from a blood sample.  The caution is
that this test still needs to be checked out in other laboratories,
and will probably take a while to become more widely available.  I
think it is a significant advance, though, to be able to diagnose
patients without requiring a muscle biopsy.  Dr. Brown's lab was one
of the two that first discovered the dysferlin gene.

***********
"A novel, blood-based diagnostic assay for limb girdle muscular
dystrophy 2B and miyoshi myopathy." Ann Neurol 2002 Jan;51(1):129-33

Ho M, Gallardo E, McKenna-Yasek D, De Luna N, Illa I, Brown Jr RH.

Day Laboratory for Neuromuscular Research, Massachusetts General
Hospital, Harvard Medical School, Charlestown, Massachusetts.

Limb girdle muscular dystrophy 2B and Miyoshi myopathy were recently
found to be allelic disorders arising from defects in the dysferlin
gene. We have developed a new diagnostic assay for limb girdle
muscular dystrophy 2B and Miyoshi myopathy, which screens for
dysferlin expression in blood using a commercially available
monoclonal antibody. Unlike current methods that require muscle biopsy
for immunodiagnosis, the new method is simple and entails a
significantly less invasive procedure for tissue sampling. Moreover,
it overcomes some of the problems associated with the handling and
storage of muscle specimens. In our analysis of 12 patients with limb
girdle muscular dystrophy 2B or Miyoshi myopathy, the findings
obtained using the new assay are fully consistent with the results
from muscle immunodiagnosis.

PMID: 11782994

Welcome to the group, BillG.  I appreciate how frustrating it must be
awaiting a diagnosis--it certainly was for me.  From what I've read
and also heard from researchers, many if not most, people with
dysferlin deficiency are originally diagnosed with polymyositis and
are put on prednisone, to no avail.  Having the protein test available
allows for the first time, a real diagnosis to be made.  The next step
of course is understanding the pathology and devising treatments.

Best wishes,
Brad

Just wanted to say Hi to everyone here.

I'm not sure yet but we are testing for LGMD Type2B. I've had a
diagnosis of Polymyositis since 1997 and saw a specialist at Stanford
University who thinks I may have MD.

This board seems quiet. Hopefully it will pick up again soon.

Regards,
BillG
Camarillo, CA
36 y.o.

I am a final year student at Brighton University (UK), studying social
science. For my dissertation I am investigating how individuals with
Muscular Dystrophy percieve themselves in their dreams. I would be
grateful if you could answer my questionnaire.

You can get a copy of the questionnaire by contacting Vicki at the
following email peggy122@...

Thankyou for you help

Helen Fletcher.

Hi Vikram,

Welcome to the group.  As far as the prognosis of Miyoshi myopathy
goes, the symptoms are progressive, although rather slowly.  Typically
patients have a significant degree of disability 15 or 20 years after
the symptoms first become noticable.  Most people are able to walk to
some extent for at least 20 years after the onset of symptoms. (group
members--say something if your experience disagrees with this
assessment!)

I've never come across any statement made in the medical literature
that Miyoshi can be fatal.  The major life-threatening complications
in muscular dystrophy are 1) that it affects the heart 2) it affects a
person's ability to breathe.  To the best of my knowledge, neither of
these has been reported in connection with Miyoshi (nor in the type of
LGMD caused by dysferlin deficiency).

It is true that there is no treatment available at the moment.  There
are, however, several research projects going on in different
countries which are likely to lead to clinical trials within the next
few years. The primary rationale behind this newsgroup and the
dysferlin website ( http://www.dysferlin.org ) is to increase
awareness, facilitate contacts, and ultimately speed up the whole
process of getting to treatments.

Best wishes to you and your brother,
Brad

Hello,

My name is Vikram. My brother in India is suffering from Miyoshi
myopathy since 1996. Several docs have tried and given up on any kind
of treatment. We were told its a slow death !!. Is it true ?

Thanks,
Vikram

the dysferlin website has a new address: http://www.dysferlin.org  the
site still exists on the previous address for the moment (if the
server is functioning, which it hasn't been most of the last week,
which is why I got a new host!).

I just updated the Research page with titles of papers accepted to the
World Muscle Society conference next month.  There are 8 papers on
dysferlin (the conference web page is
http://www.genetics.utah.edu/wms6/program.html):

G.P.2.2      The earliest lesions in dysferlinopathy.  D. Selcen, A.G.
Engel.

G.P.2.3      The sarcolemmal proteins dysferlin and caveolin-3
interact in skeletal muscle.  C. Matsuda, Y.K. Hayashi, M.
Ogawa, M. Aoki, K. Murayama, I. Nishino, I. Nonaka, K. Arahata, R.H.
Brown Jr.

G.P.2.4      Dysferlinopathy: different pathological features and
clinical course in 30 patients.  M. Fanin, R. Padoan, C. Angelini.

G.P.2.5      Characterization of the dysferlin muscle promoter.  R.
Harrison, S. Laval, R. Bashir, K. Bushby.

G.P.2.6      A new mutation in Miyoshi myopathy with vacuoles: case
report.  L. Negrão, M. Rosário Santos, A. Geraldo, O.
Rebelo, E. Vieira.

G.P.2.7      Screening of dysferlin mutations in LGMD Brazilian
patients.  F. Paula, M. Vainzof, E.S Moreira, M.R.
Passos-Bueno, M. Zatz.

G.P.2.8      Secondary changes in dysferlin expression.  J.A. Gray, R.
Harrison, S. Keers, E. Vafiadaki, R. Pogue, C. Pollitt, J.
Colomer, A. Lasa, K.M.D. Bushby, L.V.B Anderson.

B.P.1.10      Identification of a novel muscle gene interacting with
dysferlin.  E. Vafiadaki, S. Laval, J.
Brown, R. Bashir, K. Bushby.

Hi everyone;

The following is a "preview" of a new pamphlet on distal MD being
prepared by the US MDA.  This was sent to me by Sharon Hesterlee, who
invites comments on any points that may need clarification.

********
Hi Brad,

I'm in the process of editing and rewriting some parts of our new
"Rare Dystrophies" pamphlet, which includes the distal muscular
dystrophies.  I wonder if you would be willing to take a look at my
information (posted at the end of this message) and give me some
feedback.  Also, did you say you started an email list for distal MD?
  If so, please feel free to post it there as well.  People are welcome
to email me directly with comments.

Thanks!

Sharon

Sharon E. Hesterlee, Ph.D.
Director of Research Development
Muscular Dystrophy Association
3300 E. Sunrise Drive
Tucson, Arizona 85718

shesterlee@...
Phone: 520- 529-5433
Fax:     520- 529-5454


Distal Muscular Dystrophy

First described in 1902, distal muscular dystrophy is the name of a
group of disorders that primarily affect distal muscles--those muscles
that are farthest away from the trunk of the body such as those in the
hands, feet lower arms or lower legs.  Although muscle weakness is
usually first detected in the distal muscles, with time, other muscle
groups may become affected as well. Intellect and fertility are not
affected in these diseases.

The distal muscular dystrophies are caused by many different genetic
defects, not all of which are currently known.  Also, some of the
distal muscular dystrophies that appear to have different symptoms and
have been given different names based on these symptoms, may actually
be caused by defects in the same gene.

Your own form of distal muscular dystrophy may or may not fit into one
of these categories.  Many of these diseases can vary from one person
to the next and, in some cases, researchers are still in the process
of sorting out what symptoms are linked to a particular genetic
defect.

What are the types of distal muscular dystrophy?

Welander's distal myopathy: This form of distal muscular dystrophy
follows a dominant pattern of inheritance and usually has a late onset
at between 40-50 years.  Upper extremities tend to be affected first,
then lower.  The degree of muscle weakness involved can range from
benign to severe.  Although its cause isn't yet known, the disorder
may be linked to the dysferlin gene--the same gene that's defective in
Miyoshi myopathy and limb-girdle muscular dystrophy 2B.

Finnish/Markesbery distal myopathy: Markesbery muscular dystrophy
follows a dominant pattern of inheritance with weakness starting after
age 40 in the lower extremities and progressing slowly to the upper
extremities and trunk muscles.  Cardiac problems can be a feature.
Finnish muscular dystrophy (also called "tibial" muscular dystrophy),
can be severe or benign and typically affects only people of Finnish
descent.  Those with only one defective gene experience mild weakness
of the tibial leg muscles later than age 40.  Those with two defective
genes experience progressive weakness starting in childhood and may
lose the ability to walk by age 30.  Finnish distal myopathy and
Markesbery distal myopathy are linked to the same region of chromosome
2 and may be caused by defects in the same gene.

Miyoshi distal myopathy: This disorder is inherited in a recessive
manner and involves weakness in the lower extremities, especially in
the gastrocnemius muscle.  Symptoms usually begin between 15 and 30
years of age.  The genetic defect that causes Miyoshi myopathy has
been mapped to the gene for a protein of unknown function called
"dysferlin."  Defects in the dysferlin gene can also cause limb-girdle
muscular dystrophy 2B, which has a completely different pattern of
muscle weakness.   People with the exact same genetic defect in their
dysferlin gene can have either disease, and it isn't known what
determines which pattern of symptoms a person gets.

Nonaka distal myopathy:  Usually found in families of Japanese
descent, this form of distal muscular dystrophy is inherited in
recessive manner and symptoms begin between ages 20 and 40.   The
anterior lower leg muscles (those in the front of the leg) are
typically affected first, but the disease may progress to affect upper
arm and leg muscles and neck muscles.  The quadriceps muscles tend to
remain strong.  The disease has been linked to chromosome 9 and may be
caused by a defect in the same gene that causes a different disease,
recessive hereditary inclusion body myositis.

Gower's distal myopathy: This disorder is inherited in a dominant
fashion and has its onset from childhood to 25 years of age.  Weakness
is first seen in the leg and neck muscles and progresses slowly to
include upper leg muscles, hands and more neck muscles.  The disorder
has been linked to chromosome 14.

Hereditary inclusion body myositis (HIBM): This disorder can be
inherited either as a dominant or a recessive disease.  Onset of the
recessive form is in the 2nd or 3rd decade and muscle weakness appears
in the distal muscles (those farthest away from the trunk) and in the
proximal muscles (those nearest the trunk).  The dominant form has its
onset at 25 to 40 years and weakness occurs in the distal and proximal
limb muscles with slow progression. In both forms of HIBM the muscle
tissue, as seen in thin cross sections, is characterized by the
presence of tiny protein-rimmed holes called "vacuoles."

Distal myopathy with vocal cord and pharyngeal weakness: This disorder
is inherited in a dominant manner and has been linked to chromosome 5
in the same region as the gene that's defective in limb-girdle
muscular dystrophy type 1A.  Symptoms first appear between 35 and 57
years of age and include weakness of the hands, legs or voice.
Difficulty in swallowing, "dysphagia," may be a feature (see "problems
and solutions" under OPMD, p. , for more information on dysphagia).

Problems and solutions in Distal Muscular Dystrophies:

Lower limb weakness:  Weakness of the lower limb muscles may make
walking or standing from a sitting position difficult.  In some cases,
a type of brace called an "orthosis" that is worn over the shoe and
lower or upper leg can help with leg weakness.  Eventually, a
wheelchair may be needed for
traveling long distances.

Arm weakness:  Your MDA clinic can refer you to an "occupational
therapist" who will help you get the most out of your arm muscles in
performing day-to-day activities.  Often, the occupational therapist
can recommend specific devices that may augment grip strength or help
you elevate your arms to better perform activities such as brushing
your teeth or hair.

This was originally a reply to Jamal's message (13), but I
(also) neglected to select the option to send it to the board:

There is a website, rehabinfo.net, for a group at UC Davis called the
Rehab. Research and Training Center. They have a link to a paper
titled The Role of Exercise in Neuromuscular Disease, in which the
author notes that although research is lacking, strength and aerobic
exercises might be helpful, but require caution. Maybe a lot of hits
on the website would encourage some research!

(the first time I sent this message back to the author only and not to
the board)  Oops!

Hi Jamal;

Your question is very good one, and I've been asked that by other
people recently.  Unfortunately there isn't a lot of
well-substantiated medical information about exercise, physical
therapy, etc. in LGMD.  Most of the information out there seems to be
about Duchenne MD, and it seems to be left up to us to figure out how
it might apply to other forms of MD.

Now that several forms of LGMD have been genetically characterized, I
would hope that some better information might become available in the
next few years.

Some information about exercise is given on the MDA's "ask the
experts" page on lgmd:

http://www.mdausa.org/experts/ask_lgmd.html

the file is pretty long, so you might want to use the "find in page"
feature in the "edit" menu of your browser to look for "exercise".

My experience, and those of other people I've talked to, suggests that
while exercise won't significantly help muscles that are affected, it
won't hurt either if done in moderation.  Also, since many types of
LGMD affect only specific muscles, strengthening other muscles which
aren't affected can help make up some of the loss of function.

You probably want to consult a physical therapist (if possible one who
has had other patients with muscular dystrophy) to come up with
exercises that would be beneficial.  This depends very much on your
condition and which muscles are affected in your particular case.

Best wishes,
Brad

While I realize that this forum is about dysferlin, I have a question
about LGMD -- which I have.
Does anyone know if there are any sort of exercises that might either
stave off further development of LGMD or which may simply be good for
people dealing with it? I have difficulty standing from a seated
position and wondered if there was any sort of exercise that I might
do to help me with it.

As I discovered yesterday, the default in sending a reply to a
message is to send it only to the author of the original message, not
the group.  To send it to the group, you have to choose
dysferlin@yahoogroups.com on the "to:" line on the reply window.


I have set the group options to not allow file attachments.  I have
done this because some other groups have had viruses spread around in
the form of e-mail attachments.  If somebody has a file they want to
post as an attachment, let me know and I will change the group
settings to allow this.
s

Hi Suzi, nice to hear from you!

Your diagnosis story sounds quite difficult.  I was somewhat fortunate
in that, although some doctors I had consulted while I was trying to
get a diagnosis thought that I might have had polymyositis, nobody
actually put me on any steroids or immunosuppressants for it.  I was
eventually put on prednisone and azathioprin by Robert Griggs of the
University of Rochester, although he was almost sure I had Miyoshi.
At the time Dr. Griggs was involved in the first large-scale clinical
trial of prednisone on Duchenne MD, and he wanted to see whether it
might help Miyoshi also.  After a couple months it was clear that it
didn't, so we stopped.

I do hope that the word gets out among neurologists to look into
dysferlin deficiency before putting everyone who has inflammation in a
muscle biopsy on steroids and immunosuppressants!

Best wishes,
Brad

Hi, I'm Suzi from Surrey, England.

I was originally diagnosed approximately 7-8 years ago with
Polymyositis.  After high dose steroids, Cyclosporin and a course of
Sandoglobulin (please excuse the poor spelling) it was decided that I
had Inclusion Body Myositis because I had not responded to
treatment.  Eventually, after approximately 3 years & a different
consultant, I was told I had Miyoshi.  I now see Dr Rose at Kings
College Hospital, London & I believe that I am involved in the
Dysferlin research at Newcastle (although I have not heard from them
in over 2 years & am trying to contact them at the moment to get a
more definate diagnosis.

Feel free to contact me if you want to speak to a fellow sufferer!

Brad:
> I thought I would see what experiences others have had...
>
> When I first started to have symptoms (20 years ago) it seemed to be
> very difficult to find a neurologist who had any idea what to make of
> my symptoms. Also, my muscle biopsy seemed to confuse people: there
> were some inflammatory characteristics, which led people to think for
> several years that I might have polymyositis instead of a muscular
> dystrophy.  After having read the recent literature, it turns out
> that inflammation is a typical characteristic of dysferlin
> deficiency, and that patients are often misdiagnosed as a result.
>
> Have things improved significantly in the past 20 years in terms of
> getting a correct diagnosis?

Hi Brad, and also to the rest of the group. For those who don't know me
(who I guess is everyone except Brad), I'm a student doing research
into dysferlin deficiency at a lab attached to an Australian hospital.
We've only been studying dysferlin deficiency for about a year, since
we got hold of the first reliable diagnostic tests (antibodies to the
dysferlin protein).

I sincerely hope that the accuracy of diagnosis has improved
dramatically in the last two decades. Although there is still a lot we
don't know about muscular dystrophies, our increasing understanding of
the genes involved in the various conditions has made laboratory
diagnosis a lot more reliable. Whereas five years ago our lab would not
have been able to diagnose LGMD-2B or Miyoshi myopathy with any real
confidence, we can now make a diagnosis right down to the level of the
actual causative genetic mutation.

I hope that these advances in technology have made things better for
patients of muscular dystrophy, and I'd be very interested in hearing
the experiences of members of this group with respect to diagnosis.


Daniel MacArthur.

_____________________________________________________________________________
http://messenger.yahoo.com.au - Yahoo! Messenger
- Voice chat, mail alerts, stock quotes and favourite news and lots more!

I thought I would see what experiences others have had...

When I first started to have symptoms (20 years ago) it seemed to be
very difficult to find a neurologist who had any idea what to make of
my symptoms. Also, my muscle biopsy seemed to confuse people: there
were some inflammatory characteristics, which led people to think for
several years that I might have polymyositis instead of a muscular
dystrophy.  After having read the recent literature, it turns out that
inflammation is a typical characteristic of dysferlin deficiency, and
that patients are often misdiagnosed as a result.

Have things improved significantly in the past 20 years in terms of
getting a correct diagnosis?

Brad

thanks to María José for leading
me to the site of the upcoming
XVII World Congress of Neurology, to be held in London, 17-22 June
The conference webpage is
http://www.concorde-uk.com/wcn-2001/

There are a couple presentations on dysferlin in particular:

36.03 Dysferlinopathy: Evolution of Muscle Involvement by CT Scan
	 M. Vlak , C. Angelini

LB007 Clinical and Genetic Studies of Two Japanese Families with
Limb-Girdle Muscular Dystrophy 2B and Miyoshi Myopathy
	 H. Ueyama , T. Kumamoto, H. Horinouchi, S. Fujimoto, T. Tsuda

as well as some on muscular dystrophy in general.  The abstracts are
not (yet) available on the web pages.  The site says they will be on
the opening day of the conference; I'm not sure whether this means to
the public or only to registered attendees.

hi!

I'm the second spanish in this group (It's not a bad average). I'm
afected by a muscular dystrofhy since i was a child. Now I'm 29 years
old and I haven't a definitive diagnostic but in the last months my
doctor talked me about a dysferlyn deficiency, maybe a "miyoshi
myopathy". Nowadays I don't use a wheelchair but I have too many
problems for walking long distances and, of course, I don't want to
hear anything about stairs.I don't know so much about dysferlin but I
want to collaborate with you in all I can do, and of course I would
be very happy to receive news of all of you.

Than you!

PD: Sorry for my englih

Juan

Thanks so much for organizing this group. I suffer from LGMD. I've
noticed problems since 1993, but it wasn't until last year that
doctors were able to diagnose me and figure out what was going on. I
am 44 and am gradually losing my ability to climb stairs, and walking
is becoming difficult.
Please feel free to e-mail me with any questions or comments you may
have, and let me know if there's anything I can do to help my
condition -- or even to get around better.
Thanks again for creating this very important group.

At the American Academy of Neurology Meeting  May 5-11, 2001 there
were several papers on muscular dystrophies caused by dysferlin
deficiency.  Abstracts can be read by going to this link

http://www.aan.com/public/2001Mtg/sciproghm.htm

and clicking on the Abstracts-on-line link on the page.  You have to
get a username and password to read the abstracts (this is free,
however, and you don't have to give any personal information--it takes
all of 30 seconds). Then search for "dysferlin". You will get 7 hits,
six of which are papers actually focused on dysferlin deficiency.

I would list the titles here, except that before you can get to the
search page, you get a page of copyright warnings.  So just to be safe
I'll wait until I get around to writing the AAN to ask their
permission.

This is another indication that a lot of research is going on in
several countries, which hopefully will lead to treatments in the
not-too-distant future.

I too am striken with 'dysferlin deficiency', and am very happy to
see this newsgroup for us and all others....Godspeed with wellness
and strength to us all....feel free to contact me via email...take
care, all!

Hi!
I have been diagnosed with LGMD and live in Spain.I haven't a
definitive diagnosis.I would be happy to share with you information.
I've read about dysferlin. I hope to be able to contribute something
to the group.
Thank you for your dedication to providing information and friendship.
María José.

I began to have symptoms of dysferlin deficiency in 1981, and was
given a laboratory diagnosis in 2000, after a protein test became
available.  Also in 2000, I began searching for information about
dysferlin deficiency and discovered there was a lot more known than I
had realized.  As a result of this I put together a website to
summarize the current knowledge on dysferlin and the forms of muscular
dytrophy associated with it.  The site
(http://sites.netscape.net/dysferlin/) went online in March 2000.
Since then I have received e-mails and guestbook entries from a number
of patients, and have shared my experiences and tried to answer their
questions.  I have realized that while the website serves a very
useful purpose, it might be desirable to also have an open forum for
others to share information and ask questions.  Having seen several
other forums on various types of muscular dystrophy which have been
very successful, I'm convinced a group focused on dysferlin deficiency
can work as well.  Thanks for stopping by!