MD-List : Messages : 19833-19862 of 22639

New genetic test developed at Emory advances detection and diagnosis of muscular dystrophy
Wednesday, 27 June 2007

By Emory University

A new genetic test targeting the most common types of muscular dystrophy--those caused by mutations in the dystrophin gene--is far quicker with greater accuracy and sensitivity than existing tests. It can be used to confirm clinical diagnoses, to test female family members who may be carriers, and to perform prenatal testing.

The test was developed by Michael Zwick, PhD, and Madhuri Hegde, PhD, assistant professors in the Department of Human Genetics and the Emory Genetics Laboratory in the Emory University School of Medicine.

Muscular dystrophy includes more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms are seen in infancy or childhood, while others may not appear until middle age or later.Duchenne muscular dystrophy (DMD) is the most common form of muscular dystrophy and primarily affects boys. It is caused by absence of dystrophin, an important muscle protein involved in maintaining the strength of muscle fibers.

According to the National Institute of Neurodegenerative Diseases and Stroke (NINDS), DMD onset is between 3 and 5 years, with rapid progression. Most boys are unable to walk by age 12 and later need a respirator to breathe. Girls in these families have a 50 percent chance of inheriting and passing the defective gene to their children. Becker muscular dystrophy, which is similar to Duchenne but less severe, results from faulty or not enough dystrophin.

As currently implemented the new test, called Em Dystrophin, detects 99 percent of mutations in the dystrophin gene including deletions, duplications and point mutations.

The Em Dystrophin test uses a new kind of microarray technology that contains the entire sequence of the dystrophin gene, the largest known gene in humans, on a chip the size of a microscope slide. The test initially detects deletions and duplications, then microarray-based resequencing is used to rapidly identify subtle genetic variations that may cause muscular dystrophy.

The Em Dystrophin test confirms clinical diagnosis of Duchenne and Becker muscular dystrophy in a male and characterizes the type and size of the mutation. Women with a family history of Duchenne or Becker who are at risk to be carriers can be tested, then, if found to be carriers, can have prenatal testing.

Previously, access to prenatal testing was limited for some women when the affected male relative was not available for testing. The Em Dystrophin test greatly improves access to prenatal and carrier testing for women without the need to test a male relative, in a rapid timeframe, according to Vanessa Rangel Miller, MS. In addition to improved testing, the Emory Genetics Laboratory, Parent Project Muscular Dystrophy, leading researchers and clinicians are working together to develop a database for mutations and clinical data.

Our new genetic test, along with new therapies currently in clinical trials, is a very positive development for muscular dystrophy patients and their families, says Dr. Hegde.

In the last five years DMD research has accelerated, resulting in more knowledge about the role of the dystrophin gene and an increased understanding about what happens to a muscle cell lacking the dystrophin protein. Researchers around the world are investigating a number of different treatment strategies, all with the goal of slowing or stopping muscle degeneration. Several clinical trials are underway and many others are in development, including testing of an oral medication intended to circumvent mutations in the dystrophin gene and increase normal gene expression.

According to Dr. Hegde, about 13 percent of mutations in the dystrophin gene are nonsense mutations--point mutations in a sequence of DNA that can result in mistakes in gene expression and nonfunctional proteins. New data published online in the current edition of the journal Nature show that PTC124, an investigational new drug designed to bypass dystrophin nonsense mutations and restore a functional protein, was effective in a preclinical (animal) model of Duchenne muscular dystrophy (DMD). (www.clinicaltrials.gov).

Moody friends. Drama queens. Your life? Nope! - their life, your story.
Play Sims Stories at Yahoo! Games.

Reply | Forward | Messages in this Topic (1)

#19861

From: "bdevergillo" <bdevergillo@...>
Date: Fri Jun 29, 2007 2:15 pm
Subject: Re: Ghostwise

bdevergillo

Offline

Okay,  thanks so much.  Sometimes trying to pick out the best product
is just so overwhelming.

Beverly

--- In MD-List@yahoogroups.com, JoyceGlass@... wrote:
>
> Beverly, Hillrom will help you with billing your  insurance.
>
>
>
> ************************************** See what's free at
http://www.aol.com.
>

#19860

From: JoyceGlass@...
Date: Fri Jun 29, 2007 9:51 am
Subject: Re: Re: Ghostwise

JoyceGlass@...

Beverly, Hillrom will help you with billing your insurance.

See what's free at AOL.com.

#19859

From: JoyceGlass@...
Date: Fri Jun 29, 2007 9:50 am
Subject: Re: Re: Ghostwise

JoyceGlass@...

Beverly, my son has a SilkAir mattress overlay. You might want to contact Hillrom Customer Service and ask them to have a representative go to your house to discuss your options. That is what we did.

The SilkAir Mattress overlay ( or Silkair low airloss therapy) is an air mattress that goes over the mattress on the hospital bed. It has a motor that you turn on that inflates the mattress with air. The air pressure can be regulated. The overlay mattress can be folded up and taken with you when you travel in the van. We have done it many times.

Hillrom is also very good about coming out to fix anything. We have only had to contact them once in ten years.

Another nice thing about Hillrom is that if you are traveling out of state you can rent a mattress from them and they will deliver it to your hotel and set it up for you and pick it up when you are leaving. We have also done that many times.

Here is Hillrom's customer service phone number: 1-800-638-2546

See what's free at AOL.com.

#19858

From: "bdevergillo" <bdevergillo@...>
Date: Fri Jun 29, 2007 1:29 pm
Subject: Re: Ghostwise

bdevergillo

Offline

Joyce
Adele,

We need to purchase a new mattress for our son and in looking at the
Hillrom site, there are many different mattresses.  What specific
mattress (or item #) would you recommend on that site?

Thanks for your help.

Beverly


--- In MD-List@yahoogroups.com, "Adele" <jasona65@...> wrote:
>
> There are plenty of good mattress out there.  It's more a matter of
what
> comfortable for your son.  Jason uses an continious low air loss
mattress
> from Hillrom.
>
>
>
> Adele
>
>
>
>   _____
>
> From: MD-List@yahoogroups.com [mailto:MD-List@yahoogroups.com] On
Behalf Of
> SKumbera@...
> Sent: Thursday, June 28, 2007 10:02 AM
> To: MD-List@yahoogroups.com
> Subject: Re: [MD-List] Ghostwise
>
>
>
> do you know if there is a better mattress than roho?
>
>
>
>
>
>   _____
>
> See what's free at AOL.com <http://www.aol.com?
ncid=AOLAOF00020000000503> .
>

#19857

From: "Adele" <jasona65@...>
Date: Thu Jun 28, 2007 3:34 pm
Subject: RE: Ghostwise

navymom2josh

Online Now

There are plenty of good mattress out there. It’s more a matter of what comfortable for your son. Jason uses an continious low air loss mattress from Hillrom.

Adele

From: MD-List@yahoogroups.com [mailto:MD-List@yahoogroups.com] On Behalf Of SKumbera@...
Sent: Thursday, June 28, 2007 10:02 AM
To: MD-List@yahoogroups.com
Subject: Re: [MD-List] Ghostwise

do you know if there is a better mattress than roho?

See what's free at AOL.com.

#19856

From: "Melinda" <mseiuli05@...>
Date: Thu Jun 28, 2007 3:14 pm
Subject: Re: please help

tikioohaha

Offline

My son was diagnosed when he was 3 months old and we did a genetic
study. There can be different flaws in the x chromosome that makes
some treatment options not available. When the ptc drug first came
out i brought it to my neurologists attention, and because my son
has an exon deletion he is not a candidate for the treatment. The
exon is what translates proteins to make new muscle, but with a
deletion, his body doesnt even know to make new muscle.


--- In MD-List@yahoogroups.com, "Mastercraft Technical Services"
<elainemts@...> wrote:
>
> charles,
>
> They have done the CVS test and have told me that I have passed
some of the good X and some of the Bad x asnd that this is very
rare, I have to wait for another 3 week to find out about
amniocentisus nothing has been clarified and i am very worried
>   ----- Original Message -----
>   From: Charles D. Rhodes
>   To: MD-List@yahoogroups.com
>   Sent: Sunday, June 24, 2007 9:23 PM
>   Subject: Re: [MD-List] please help
>
>
>
>   Hi,
>
>   DMD is caused by a flaw in the X chromosome of our DNA.  A
female has 2 X chromosomes and a male has an X and a Y chromosome.
You will pass on one of your X chromosomes to your future children.
Only one of your X chromosomes is effected with DMD so, if you have
a boy, he will have a 50 percent chance of having DMD.  Also, if you
have a girl, she will have a 50 percent chance of being a carrier of
DMD.
>
>   I hope this clarifies this for you.
>
>   Charles
>     ----- Original Message -----
>     From: query121
>     To: MD-List@yahoogroups.com
>     Sent: Saturday, June 23, 2007 7:18 AM
>     Subject: [MD-List] please help
>
>
>     I have been told I am a carrier my brother had duchene
muscular
>     distrophy and I need to know if my baby will definitely have
this they
>     have done the tests and told me its a boy and i have the gene
what do I
>     do now
>

#19855

From: JoyceGlass@...
Date: Thu Jun 28, 2007 10:18 am
Subject: Re: talk

JoyceGlass@...

My son uses the SilkAir mattress overlay from Hillrom. It is very comfortable and your medical insurance should pay for it. www.Hillrom.com

See what's free at AOL.com.

Reply | Forward | Messages in this Topic (2)

#19854

From: SKumbera@...
Date: Thu Jun 28, 2007 10:07 am
Subject: talk

SKumbera@...

do you know if there is a better mattress than roho?

See what's free at AOL.com.

Reply | Forward | Messages in this Topic (2)

#19853

From: SKumbera@...
Date: Thu Jun 28, 2007 10:02 am
Subject: Re: please help

SKumbera@...

do you know if there is a better mattress than roho?

See what's free at AOL.com.

#19852

From: SKumbera@...
Date: Thu Jun 28, 2007 10:03 am
Subject: Re: Re: PPMD Conference

SKumbera@...

do you know if there is a better mattress than roho?

See what's free at AOL.com.

#19851

From: SKumbera@...
Date: Thu Jun 28, 2007 10:03 am
Subject: Re: Re:meiosis (was Re: please help)

SKumbera@...

do you know if there is a better mattress than roho?

See what's free at AOL.com.

Reply | Forward | Messages in this Topic (3)

#19850

From: SKumbera@...
Date: Thu Jun 28, 2007 10:01 am
Subject: Re: Re: PPMD Conference

SKumbera@...

do you know if there is a better mattress than roho?

See what's free at AOL.com.

#19849

From: SKumbera@...
Date: Thu Jun 28, 2007 10:02 am
Subject: Re: please help

SKumbera@...

do you know if there is a better mattress than roho?

See what's free at AOL.com.

#19848

From: SKumbera@...
Date: Thu Jun 28, 2007 10:01 am
Subject: Re: Ghostwise

SKumbera@...

do you know if there is a better mattress than roho?

See what's free at AOL.com.

#19847

From: SKumbera@...
Date: Thu Jun 28, 2007 9:59 am
Subject: Re: Ghostwise

SKumbera@...

do you know if there is a better mattress than roho?

See what's free at AOL.com.

#19846

From: "Adele" <jasona65@...>
Date: Thu Jun 28, 2007 3:05 am
Subject: RE: Re: PPMD Conference

navymom2josh

Online Now

Dee, I’m sorry you are missing this one also. One of these years you’ll get to come. This is going to be my first medical conference. Jason is a speaker at this one. He’s on a panel of DMD “experts”.

Adele

From: MD-List@yahoogroups.com [mailto:MD-List@yahoogroups.com] On Behalf Of newspirit41
Sent: Wednesday, June 27, 2007 7:28 PM
To: MD-List@yahoogroups.com
Subject: [MD-List] Re: PPMD Conference

I wish I could go to this...but I'm hosting my HS homecoming reunion at
that same time, and since it is in Philly and we have family in that
area, we probably would stay with them. Another PPMD i'm missing. If it
was only one week earlier or 1 week later! lol!

--- In MD-List@yahoogroups.com, "Joanne" <Joanne.Wechsler@...> wrote:
>
> Hi,
> Is anyone looking to share a room at PPMD Conference with another mom?
> Joanne
>

#19845

From: "Lanae Squires" <lmssquires@...>
Date: Thu Jun 28, 2007 12:38 am
Subject: Re:meiosis (was Re: please help)

freckeledscr...

Offline

Make every IM count. Download Messenger and join the i�m Initiative now. It�s free.

Hi, I just got the Quest magazine and there is an article on this very topic. If you don't get the Quest magazine you can access it on the main MD web site at www.MDAUSA.org

Never underestimate the power of a kind word or smile

Reply | Forward | Messages in this Topic (3)

#19844

From: "newspirit41" <newspirit41@...>
Date: Wed Jun 27, 2007 11:27 pm
Subject: Re: PPMD Conference

newspirit41

Offline

I wish I could go to this...but I'm hosting my HS homecoming reunion at
that same time, and since it is in Philly and we have family in that
area, we probably would stay with them. Another PPMD i'm missing. If it
was only one week earlier or 1 week later! lol!

--- In MD-List@yahoogroups.com, "Joanne" <Joanne.Wechsler@...> wrote:
>
> Hi,
> Is anyone looking to share a room at PPMD Conference with another mom?
> Joanne
>

#19843

From: "J.P." <redmaple01ca@...>
Date: Wed Jun 27, 2007 11:22 pm
Subject: Ghostwise

redmaple01ca

Offline

Ghostwise is a 27 years old man with Duchenne Muscular Dystrophy
that you can find on Youtube.

just click on the following link:

http://www.youtube.com/watch?v=J6VgdtcfO_M

or copy and paste

You will find him on Youtube as Ghostwise

He has several interesting videos on Youtube.

He appears to be a celebrity on Youtube and an inspiring one.

ONe video of him titled Impressed shows him typing.


In May he won the right to appear in a TV commercial that will be
shown at the superbolw.

This young man has  a dream, and is pursuing it.

cheers, J.P.

#19842

From: "Joanne" <Joanne.Wechsler@...>
Date: Wed Jun 27, 2007 1:13 pm
Subject: PPMD Conference

jowechsler

Offline

Hi,
Is anyone looking to share a room at PPMD Conference with another mom?
Joanne

#19841

From: "Rich Clingman" <NewRich@...>
Date: Tue Jun 26, 2007 5:32 pm
Subject: meiosis (was Re: please help)

bachniv

Offline

While I've never heard of "partially" passing on DMD, I believe that when chromosomes are dividied & rejoined during "meiosis" to produce egg & sperm, *portions* of genes can be passed. This is, for example, why children can have hair color different than either of the parents.

I'm no biologist, but I'd guess that while "each boy has a 50% chance of inheriting DMD," there's a slight variance from "50%" as portions of genes are combined and new genetic errors are introduced.

Rich

PS: Here are some references about meiosis & cell division. I haven't really looked at them so I don't know how valuable or accurate they are...

http://www.biologylessons.sdsu.edu/classes/lab8/lab8.html

http://anthro.palomar.edu/biobasis/bio_2.htm

----- Original Message -----

From: Adele

To: MD-List@yahoogroups.com

Sent: Tuesday, June 26, 2007 10:07 AM

Subject: RE: [MD-List] please help

Sorry, but I�m having a little problem understanding what they have told you. My knowledge of genetics are little basic, but I�ve be under the idea that you pass the whole gene to you offspring, not part of one and part of another.

Let us know what they find out when you have the amnio done. Like I said, you either have the baby, or you don�t. Either way, it�s a very tough decision to make. Saying prayers for you.

Adele

From: MD-List@yahoogroups.com [mailto:MD-List@yahoogroups.com] On Behalf Of Mastercraft Technical Services
Sent: Tuesday, June 26, 2007 11:03 AM
To: MD-List@yahoogroups.com
Subject: Re: [MD-List] please help

charles,

They have done the CVS test and have told me that I have passed some of the good X and some of the Bad x asnd that this is very rare, I have to wait for another 3 week to find out about amniocentisus nothing has been clarified and i am very worried

----- Original Message -----

From: Charles D. Rhodes

To: MD-List@yahoogroups.com

Sent: Sunday, June 24, 2007 9:23 PM

Subject: Re: [MD-List] please help

Hi,

DMD is caused by a flaw in the X chromosome of our DNA. A female has 2 X chromosomes and a male has an X and a Y chromosome. You will pass on one of your X chromosomes to your future children. Only one of your X chromosomes is effected with DMD so, if you have a boy, he will have a 50 percent chance of having DMD. Also, if you have a girl, she will have a 50 percent chance of being a carrier of DMD.

I hope this clarifies this for you.

Charles

----- Original Message -----

From: query121

To: MD-List@yahoogroups.com

Sent: Saturday, June 23, 2007 7:18 AM

Subject: [MD-List] please help

I have been told I am a carrier my brother had duchene muscular
distrophy and I need to know if my baby will definitely have this they
have done the tests and told me its a boy and i have the gene what do I
do now

Reply | Forward | Messages in this Topic (3)

#19840

From: "Adele" <jasona65@...>
Date: Tue Jun 26, 2007 5:07 pm
Subject: RE: please help

navymom2josh

Online Now

Sorry, but I’m having a little problem understanding what they have told you. My knowledge of genetics are little basic, but I’ve be under the idea that you pass the whole gene to you offspring, not part of one and part of another.

Let us know what they find out when you have the amnio done. Like I said, you either have the baby, or you don’t. Either way, it’s a very tough decision to make. Saying prayers for you.

Adele

From: MD-List@yahoogroups.com [mailto:MD-List@yahoogroups.com] On Behalf Of Mastercraft Technical Services
Sent: Tuesday, June 26, 2007 11:03 AM
To: MD-List@yahoogroups.com
Subject: Re: [MD-List] please help

charles,

They have done the CVS test and have told me that I have passed some of the good X and some of the Bad x asnd that this is very rare, I have to wait for another 3 week to find out about amniocentisus nothing has been clarified and i am very worried

----- Original Message -----

From: Charles D. Rhodes

To: MD-List@yahoogroups.com

Sent: Sunday, June 24, 2007 9:23 PM

Subject: Re: [MD-List] please help

Hi,

DMD is caused by a flaw in the X chromosome of our DNA. A female has 2 X chromosomes and a male has an X and a Y chromosome. You will pass on one of your X chromosomes to your future children. Only one of your X chromosomes is effected with DMD so, if you have a boy, he will have a 50 percent chance of having DMD. Also, if you have a girl, she will have a 50 percent chance of being a carrier of DMD.

I hope this clarifies this for you.

Charles

----- Original Message -----

From: query121

To: MD-List@yahoogroups.com

Sent: Saturday, June 23, 2007 7:18 AM

Subject: [MD-List] please help

I have been told I am a carrier my brother had duchene muscular
distrophy and I need to know if my baby will definitely have this they
have done the tests and told me its a boy and i have the gene what do I
do now

#19839

From: "Mastercraft Technical Services" <elainemts@...>
Date: Tue Jun 26, 2007 3:02 pm
Subject: Re: please help

query121

Offline

charles,

----- Original Message -----

From: Charles D. Rhodes

To: MD-List@yahoogroups.com

Sent: Sunday, June 24, 2007 9:23 PM

Subject: Re: [MD-List] please help

Hi,

DMD is caused by a flaw in the X chromosome of our DNA. A female has 2 X chromosomes and a male has an X and a Y chromosome. You will pass on one of your X chromosomes to your future children. Only one of your X chromosomes is effected with DMD so, if you have a boy, he will have a 50 percent chance of having DMD. Also, if you have a girl, she will have a 50 percent chance of being a carrier of DMD.

I hope this clarifies this for you.

Charles

----- Original Message -----

From: query121

To: MD-List@yahoogroups.com

Sent: Saturday, June 23, 2007 7:18 AM

Subject: [MD-List] please help

I have been told I am a carrier my brother had duchene muscular
distrophy and I need to know if my baby will definitely have this they
have done the tests and told me its a boy and i have the gene what do I
do now

#19838

From: "Brian & Karen Wolf" <bkwolf@...>
Date: Mon Jun 25, 2007 11:53 pm
Subject: Re: please help

sbcbwolf

Offline

Depending on how far along you are there is another test calls a CVS that is fairly invasive but can be done earlier than an amnio – you should check with a geneticist through your OBGYN. Good luck!

The therapies and possible cures are right around the corner if you decide to keep the baby and he is positive for DM, there are plenty of resources to help you though everything.

#19837

From: ILuvMere@...
Date: Mon Jun 25, 2007 2:42 pm
Subject: Re: please help

iluvmere2003

Offline

I believe the unborn baby can now be tested. If he has DMD/BMD, then you may either have a son with the disorder or choose to abort. Either way, it's a horrible choice to make but at least you will know one way or the other. I was in your shoes 28 years ago when I became pregnant. I had amniocentesis, which indicated my baby was a girl. My husband and I were spared that choice, but I remember the fear before we knew the sex of the baby. I am sure you will receive some very valuable advice from others who have made the choice you are facing.

Carol

See what's free at AOL.com.

#19836

From: Chris Coulson <robinc1961@...>
Date: Mon Jun 25, 2007 2:52 am
Subject: Re: please help

robinc1961

Offline

Hi there,
      The best advice that I can give u is to stay in
very close contact with ur DR. as they will know what
to tell u to do or at least u would be able to tell u
where to go to possiably find out if he does.
                                   Chris

--- query121 <elainemts@...> wrote:

> I have been told I am a carrier my brother had
> duchene muscular
> distrophy and I need to know if my baby will
> definitely have this they
> have done the tests and told me its a boy and i have
> the gene what do I
> do now
>
>
>
>
> Yahoo! Groups Links
>
>
>
>
>

________________________________________________________________________________\
____
Be a better Globetrotter. Get better travel answers from someone who knows.
Yahoo! Answers - Check it out.
http://answers.yahoo.com/dir/?link=list&sid=396545469

#19835

From: "knuckles 145" <knuckles145@...>
Date: Sun Jun 24, 2007 10:05 pm
Subject: Re: please help

knuckles145us

Offline

I think the amniocentesis test can tell you if he for sure has DMD or not. I am a carrier of DMD (didn't find out until my son was diagnosed with it) and our family fits the odds. My older son does not have it and my younger son does.

Beth M.

On 6/24/07, Adele <jasona65@...> wrote:

He there. If you are a confirmed carrier of Duchenne, then each one of your sons has a 50% chance of having DMD. Each one of your girls has an 50% chance of being a carrier. I do not know if they can test the fetus to see if it has DMD or not. This you will need to talk to a doctor about. The only options you have at this point is to either have the baby and hope for the best or have an abortion. I wish there was better news to give you.

Adele

From: MD-List@yahoogroups.com [mailto:MD-List@yahoogroups.com] On Behalf Of query121
Sent: Saturday, June 23, 2007 10:19 AM
To: MD-List@yahoogroups.com
Subject: [MD-List] please help

I have been told I am a carrier my brother had duchene muscular
distrophy and I need to know if my baby will definitely have this they
have done the tests and told me its a boy and i have the gene what do I
do now

#19834

From: "Adele" <jasona65@...>
Date: Sun Jun 24, 2007 8:50 pm
Subject: RE: please help

navymom2josh

Online Now

He there. If you are a confirmed carrier of Duchenne, then each one of your sons has a 50% chance of having DMD. Each one of your girls has an 50% chance of being a carrier. I do not know if they can test the fetus to see if it has DMD or not. This you will need to talk to a doctor about. The only options you have at this point is to either have the baby and hope for the best or have an abortion. I wish there was better news to give you.

Adele

From: MD-List@yahoogroups.com [mailto:MD-List@yahoogroups.com] On Behalf Of query121
Sent: Saturday, June 23, 2007 10:19 AM
To: MD-List@yahoogroups.com
Subject: [MD-List] please help

I have been told I am a carrier my brother had duchene muscular
distrophy and I need to know if my baby will definitely have this they
have done the tests and told me its a boy and i have the gene what do I
do now

#19833

From: dragonflylili@...
Date: Sun Jun 24, 2007 4:48 pm
Subject: Re: please help

lushuss_lili

Offline

have your baby and love him no matter what...

See what's free at AOL.com.