Millikenweb for Myotonic Dystrophy Information and Support

Myotonic Dystrophy Foundation

The Myotonic Dystrophy Foundation has a new website.

Check it out at this link.

http://www.myotonic.com/go/mdf/

adult Myotonic Musclar Dystrophy

I am a 40 yr old woman who meant a 33 yr old man who has MMD. We have only been dating for 3 months. He was diganoised with MMD when he was 27 yrs old. I didn't realize he had this disease until he told me 2 1/2 wks ago. It took the wind out of me.

I am afraid of developing a more deeper relationship with this person because of his disease. I am sooooo afraid I will go into my golden yrs being his nurse, in debt up to my eye balls, and wking until the day I die. But then on the other hand he's one of the nicest/kindest/most giving man I have ever meant.

His MMD is in his neck, arms and legs. He has digestive problems, he has trouble sleeping at night and he has to take a pill to keep him awake during the day.

Please if anyone has any info. on Adult Mytonic Musclar Dystrophy, could you share any info and what might be ahead....

Thanks

Eleanor

Myotonic Dystrophy Conference in Los Angeles

  meeting
Event Date: Saturday, September 16, 2006  Start Time: 09:00 AM
End Date: Sunday, September 17, 2006  Ending Time: 11:00 AM

Annual Myotonic Dystrophy Conference.

A way to reverse myotonic dystrophy in mice found

US scientists have found a way to reverse myotonic dystrophy in mice.

The therapy targets a particular kind of toxic molecule to "silence" its presence in the diseased muscle.

The University of Virginia team showed the treatment fully restored heart and skeletal muscle function in mice.

In myotonic dystrophy, like the other types of MD, faulty DNA is to blame for the abnormalities that occur.

Read more about this story on the BBC NEWS website

Click this link.

http://news.bbc.co.uk/1/hi/health/5223314.stm

UF scientists reverse muscle contractions in mouse model of muscular dystrophy

GAINESVILLE, Fla.—University of Florida scientists have used gene therapy to eliminate disabling muscle contractions in a mouse model of the most common form of adult-onset muscular dystrophy.

The inherited disorder, known as myotonic dystrophy, is found in one of every 8,000 people and causes skeletal muscles to lose the ability to relax once they contract.

“One of the principal manifestations of the disease is myotonia, or muscle hyperexcitability,” said Maurice Swanson, the paper’s senior author and a professor of molecular genetics and microbiology at UF’s College of Medicine and the UF Genetics Institute. “So when patients with myotonic dystrophy contract one of the muscles in their arm, it’s very difficult for them to release that contraction.”

The muscles progressively weaken and eventually waste away. The disease also affects the heart muscle and is associated with irregular heart rhythms that can lead to sudden death. It also can result in cataracts, premature hair loss and mild to moderate mental retardation.

The work, to be published this week in the Proceedings of the National Academy of Sciences, builds on previous research at UF and the University of Rochester School of Medicine and Dentistry that revealed myotonic dystrophy is caused by malfunctioning genes that block the action of key proteins in cells, including one known as the muscleblind protein. These proteins, which help muscle and eye cells mature, stick to warped copies of RNA molecules that build up in a cell’s nucleus and prevent the proteins from working properly.

In the current study, supported by grants from the Muscular Dystrophy Association and the National Institutes of Health, UF researchers used mice that carry the mutated genes and develop the muscle problems characteristic of myotonic dystrophy.

The scientists equipped the adeno-associated virus, or AAV—a safe and widely used vector in gene therapy—to express extra copies of the muscleblind protein. They then injected it into a muscle in the shin in the mutant mice.

“We simply tried to correct some of problems that arise by flooding the muscle with extra copies of the muscleblind protein,” Swanson said. “We were able to correct the myotonia as early as four weeks after injection, and at 23 weeks it was completely eliminated in the muscle that was injected with AAV carrying this muscleblind protein.”

Another six mice were in the control group and received injections of green fluorescent protein. Their muscle function did not improve.

In effect, patients with myotonic dystrophy retain many of the newborn versions of all the proteins the body makes, Swanson said.

“We all know newborn muscle is very different than adult muscle,” he said. “It’s not just that adults have more muscle, but in adults, proteins are being expressed that have changed between the time we were newborns to the time we became adults. That transition to adult proteins is prevented in myotonic dystrophy.

“Basically, these fetal forms of proteins that are expressed during embryonic and neonatal life are present in adult myotonic dystrophy patients and are incompatible with adult function of muscle,” he added. “The reason that’s true is muscleblind proteins are factors that regulate this transition from newborn to adult proteins. The muscleblind proteins’ responsibility in cells is to make that transition, to force the production of the adult proteins.”

In the next phase of the research, the scientists plan to inject the gene therapy solution directly into the bloodstream.

“Myotonic dystrophy patients want all their muscles corrected, not just one,” Swanson said. “One way to get around this problem is to try systemic injections in this mouse model. We’d like to correct all abnormal muscle contractions, not just in a specific muscle group.

“About 30 percent of myotonic dystrophy patients succumb to heart problems, so theoretically systemic injections might also prevent that,” he added.

Scientists eventually hope to find out whether correcting myotonia early by restoring normal levels of functioning muscleblind protein might prevent at least some of the muscle loss that characterizes the adult-onset disease. But researchers are years away from testing the gene therapy approach in people.

“Basically we have to make sure everything works correctly in mice before we can proceed to human trials,” Swanson said. “That’s a long way off.”

Dr. Stephen Tapscott, a professor of neurology at the University of Washington and a researcher at the Center on Human Development and Disability at the Fred Hutchinson Cancer Research Center in Seattle, called the findings “an important advance for developing therapies for myotonic dystrophy.”

“The demonstration that muscleblind can be delivered to diseased muscle and reverse the disease process in this mouse model achieves an important landmark step that will inform future preclinical and, ultimately, clinical studies in myotonic dystrophy,” he said.

Until now it was difficult to even contemplate a way of treating the disease because it is extraordinarily complex, said Dr. John Day, a professor of neurology at the University of Minnesota School of Medicine, but the research has identified a common element that underlies many of the disease’s different features.

“A means of delivering the treatment to humans still needs to be developed, but this now provides proof of principle that the approach is effective in this important mouse model,” Day said. “For the first time this really raises the hope of people suffering from this common form of muscular dystrophy that a treatment could someday be forthcoming that will address the many serious components of this disease.”

Credits

Contact Melanie Fridl Ross, ufcardiac@aol.com, 352-690-7051

Happy Birthday Nicholas

birthdays
Event Date: Wednesday, July 19, 2006
End Date: Wednesday, July 19, 2006

Happy 2nd. Birthday Nicholas from MOM and Dad.

Nicholas walking

See a short windows Media clip of Nicholas talking his first steps.
Mom and Dad are so proud!!!!!!!

Cure Myotonic Dystrophy Ribbons

Myotonic Dystrophy Chat

  On-Line Chats
Event Date: Monday, June 12, 2006  Start Time: 08:30 PM
End Date: Monday, June 12, 2006  Ending Time: 10:00 PM

Join Us for a weekly chat starting this Tue. june 12th at 8:30 pm Eastern time. We will be setting up this chat room every Tue. Stop by and say hi.

http://millikenweb.com/phpopenchat-3.0.2/index.php

Road Rally for the MDSG ''Myotonic Dystrophy Support Group''

Hay gang, I had to post this info about a friend of mine in the UK. He put together a team for a fundraiser rally. My friend Dave, host of the http://myotonicdystrophyforum.org/ will be raising money for the MDSG “Myotonic Dystrophy Support Group”. Please check this out.

Thanks jerry.

Team JamItUpYourPipe.com are taking part in CzechWrecks which starts on the 1st September, it's a rally with a difference, all the cars have to cost LESS than £100 (British Pound sterling) or about $185.00 . The Event starts from the UK and ends up in Prague covering 1500 miles in 4 days. We'll be raising money for the MDSG - The Myotonic Dystrophy Support Group and at the same time having a bit of fun. If you want to sponsor us please email me.

I am accepting donations for the Myotonic Dystrophy Support Group in return for advertising space on the car. You would be responsible for either supplying your graphics or providing us with a detailed specification of what you want and you would be expected to cover the cost of production. As a guide standard text graphics start at £10 (British Pound sterling) or about $18.50 per sticker and rise to a max of around £30 (British Pound sterling) or about $55.00 for a large area (110x30) and colour dependant.

We'll even wear your company shirt for a donation of £10 (British Pound sterling) or about $18.50 (minimum) per day plus shirt, heck I'll even where your underwear for a donation.......well I might.

We have limited space on the car so its first come first serve. As our first sponsor has set a president, graphic space will start at donations around the £10* (British Pound sterling) or about $18.50 mark for a single small area. £100* (British Pound sterling) or about 185.00 minimum for a large space on both sides of the car.

The car is shown on our team site with all advertising space that is available (Coded), if there are enough interested sponsors you will be asked to bid for the spaces, the highest bidder will get their graphics exactly where they want them on the car. As this is for charity and I am going for as much money as possible, until dimensions and donations are finalised/agreed** for your graphics you may be outbid for space. Please also note that once we have agreed a figure for a donation this will be taken as a final and binding pledge. If you have any questions please feel free to contact me. Our site can be found at www.JamItUpYourPipe.com.