Category Archives: Management of Myotonic Dystrophy

This category describes the management of myotonic dystrophy

New Novel Drug – Testing in Myotonic Dystrophy – Isis

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Recently Isis Pharmaceuticals gave a talk at the myotonic dystrophy foundation conference in San Fransisco, CA. This talk including just information that had been publicly given out previously. However, one of the lead researchers in the Myotonic Dystrophy field commented that this new drug that Isis is pursuing in collaboration with Biogen could be the “Fountain of Youth Drug”. The basic mechanism of antisense technology, if aging is caused by cell clogging with these proteins that are not being released to proper area. This could be a hug huge blockbuster drug that would exceed everyone potential.

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Diagnosis and Treatment

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I came across this very interesting article from the UK about the diagnosis and treatment of Myotonic Dystrophy DM. This is a more technical article on the disease and may be good for your doctor to review. Management of Myotonic Dystrophy 2010. This article is from 2010. For the most current medical information on Myotonic dystrophy visit the MDF website. This article I think gives a good overview of the subject.

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DM1 Muscle Issues Cured in Mouse Model

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Exciting news. This summer researchers at ISIS Pharmaceuticals were able to treat and Cure DM1 in a mouse model (A mouse model is a mouse that has been genetically altered to have the symptoms of DM1) This is really exciting news. The treatment seemed to work well and was by injection. The injection seemed to work long term as well. Next they will most likely use a Monkey and then if that is successful with Humans! This is 5-8 years off and will need millions of dollars of research.

The payoff for these companies will be huge though. With over 42,000 people in North America alone the market size is roughly $1 Billion for the USA. If the injections prove successful a once a year or 2x per year injection would lead to a low-cost of goods sold and high profitability. Worldwide at $20,000 per dose this is about a $17Billion dollar market.

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Researchers Narrowing Mechanism of Brain Problems in Myotonic Dystrophy

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Many of us in the Myotonic Dystrophy World find that among the most significant factors affecting us are related to brain function. Depression, Lack of Motivation, Apathy, Indifference, and Loss of executive function makes living much less tolerable. In a nutshell these changes create Terrible problems socially and emotionally. Now researchers have identified the issue that they think causes the disease. The good news is that the mechanism for the brain looks like the mechanism for many of the other issues as well. It’s the same as for muscle and other tissues. So if a cure is found in the future it will not just help with heart and muscle it may help with the most devastating issues that of the Brain as well. At the Recent MDF conference in San Fransisco one potential therapy in early stages may work not only in muscle but if injected into the Spinal fluid might help with brain issues.

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Wonderful Conference in San Fransisco

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The conference in San Fransisco was awesome. Loved every minute of it. Met some wonderful people. I got to the conference on the Thurs night. It was an awesome night. Saw Molly white the new executive director she and Amy were running ragged trying to keep everything together. Had a chance to talk with a number of families that night you had come across country for the conference.

Unfortunately I came down sick that night. maybe some food I should not have eaten. I went to an Afghan Restaurant and maybe that did it. Anyway I was able to come and see the first session Cardiac issues which was a lot of fun and very informative.The next session was DM Care and the Advocate’s Role, Dr. Cynthia Gagnon. This was an excellent presentation. She at the end went over the importance of a nurse advocate in working with DM patients. Cynthia is from Canada and they have many resources available in Quebec to help. They are working on the new checklist for management of myotonic dystrophy which is part of an international consortium. Some thoughts here:

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