Famous and Well Known People that May Have Myotonic Dystrophy

 

Autosomal dominant Incidence 1:8,000, Congenital form 1/8000

Myotonic dystrophy is characterised by a wasting and weakness of muscles in the arms and legs. The face often develops a mask-like expression, typically with eye drooping (ptosis), though symptoms can vary considerably. A number of historical figures may have been affected by this disease.

It has been suggested that the pharaoh Akhenaton, of the Eighteenth dynasty of Egypt, had MD. Reigning from around 1350 BC artistic representations of him portray a strikingly bizarre appearance, with a long face, thin and hollow cheeks, a half-open mouth and lowered eyelids known as ptosis.

 

 

 

 

 

Another  symptom of myotonic dystrophy are the development of cataracts. Interestingly, a late relative of Claude Monet when presenting with cataracts, also to mild muscle weakness, was found to have a myotonic dystrophy mutation, leading one to suspect the cataracts of Monet himself may well have been a manifestation of this disease.

 

The Greek military commander and national hero Alexander Ypsilantis (1792-1828) has been suggested to have suffered from myotonic dystrophy. His portrait on a stamp shows drooping eyelids, severe weakness and atrophy of the face muscles. His younger brother Demetrious, also a hero in the struggle for independence against the Turks, suffered from the similar ailment as well as other brothers and ancestors of his.

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Researchers Narrowing Mechanism of Brain Problems in Myotonic Dystrophy

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

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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